Datasets:

bolinas-dna
/

evals-traitgym_mendelian_v2_harness_254

chrom stringclasses 12 values	consequence_final stringclasses 21 values	pos int64 14.9k 249M	ref stringclasses 4 values	alt stringclasses 4 values	clinvar_id float64 41 4.09M ⌀	trait stringlengths 3 219 ⌀	source stringclasses 3 values	AF float64 0 1	consequence stringclasses 13 values	consequence_cre stringclasses 28 values	target bool 2 classes	AC float64 1.54k 152k ⌀	AN float64 25k 152k ⌀	exon_dist int64 0 2M	exon_closest_gene_id stringlengths 15 15	tss_dist int64 0 2M	tss_closest_gene_id stringlengths 15 15	consequence_group stringclasses 8 values	match_group int64 0 4.06k	subset stringclasses 8 values	context stringlengths 127 127	ref_completion stringlengths 127 127	alt_completion stringlengths 127 127
1	missense_variant	69,511	A	G	null	null	null	0.845715	missense_variant	missense_variant	false	70,558	83,430	0	ENSG00000186092	4,091	ENSG00000186092	missense_variant	228	missense_variant	CTTCTTTGGTGGGAGTGAGATGGTGATCCTCATAGCCATGGGCTTTGACAGATATATAGCAATATGCAAGCCCCTACACTACACTACAATTATGTGTGGCAACGCATGTGTCGGCATTATGGCTGTC	ACATGGGGAATTGGCTTTCTCCATTCGGTGAGCCAGTTGGCGTTTGCCGTGCACTTACTCTTCTGTGGTCCCAATGAGGTCGATAGTTTTTATTGTGACCTTCCTAGGGTAATCAAACTTGCCTGTA	GCATGGGGAATTGGCTTTCTCCATTCGGTGAGCCAGTTGGCGTTTGCCGTGCACTTACTCTTCTGTGGTCCCAATGAGGTCGATAGTTTTTATTGTGACCTTCCTAGGGTAATCAAACTTGCCTGTA
1	splice_donor_5th_base_variant	852,019	G	T	null	null	null	0.680992	splice_donor_5th_base_variant	splice_donor_5th_base_variant	false	103,109	151,410	71,903	ENSG00000187634	71,903	ENSG00000187634	splicing	305	splicing	CAAAAAACATAAACCCTTCATTCTTTCTCAAATAGGTTACATTAGTTATACACTCTGGAGGTGACTTGACCTGTCATTGTGAACAATTATTGCTCTTGGACGACCCAGGACATAGGCCAGCCAGTAC	GTACCCCAGTGTGTTGGAGAATCGCGCTCGGCTTCTTCCTCTGTGCTGAGTCATGAAAGTTGCCGGAGCAGGTGCAGTTACACAACCTCCAGGTAACATCACATGATCGTTCAAAAAATAATCATCC	TTACCCCAGTGTGTTGGAGAATCGCGCTCGGCTTCTTCCTCTGTGCTGAGTCATGAAAGTTGCCGGAGCAGGTGCAGTTACACAACCTCCAGGTAACATCACATGATCGTTCAAAAAATAATCATCC
1	tss_proximal	925,081	G	A	null	null	null	0.782299	intron_variant	pELS	false	118,800	151,860	68	ENSG00000187634	68	ENSG00000187634	tss_proximal	280	tss_proximal	GCCGCCCCTCCCTTCGCTGCCGGGACCCGCGGGCCCCGACCCCACCCCCTACCCGACTCGGACACCCGGGAGCCTCCGGCTCGGCCGAGGGGGCGCTGCAGCTCCAGGGCTGCGCGGGGACACCCCC	GCCGCGCGCGGAGGCCTCGGTGAACACGGACAGATCGCCCCCCGCTGCACCTCCCCCCAGCTTGGGCCACAGCGCTTGGGGCTCGCGGGCCGCTCCCTCCGCTCGGAAGGTCTCTGCGAGGCTCCTG	ACCGCGCGCGGAGGCCTCGGTGAACACGGACAGATCGCCCCCCGCTGCACCTCCCCCCAGCTTGGGCCACAGCGCTTGGGGCTCGCGGGCCGCTCCCTCCGCTCGGAAGGTCTCTGCGAGGCTCCTG
1	tss_proximal	925,628	G	C	null	null	null	0.790537	intron_variant	PLS	false	120,209	152,060	102	ENSG00000187634	102	ENSG00000187634	tss_proximal	276	tss_proximal	GTTAAAAAGTTCGGGACCTGAGCGGTGCGTGGTTCCGCGGTGGCCGCCTCTTCCTGCCGCGCAGGCCGAGGGTCCCGACGGCGCCGCTCACCGCTCCGGGACTCAGCCTTTCTGGGCCCGGCCTGCG	GTTCCCTCGGGGCCGGGGAGAGGGTGGAGCGCGGGAGGAGGGGCGCCGGGTGGGGACGCCCAGGCCCTTCGTCGGGGGAGGGCGCTCCACCCGGGCTGGAGTTGCAGAGCCCAGCAGATCCCTGCGG	CTTCCCTCGGGGCCGGGGAGAGGGTGGAGCGCGGGAGGAGGGGCGCCGGGTGGGGACGCCCAGGCCCTTCGTCGGGGGAGGGCGCTCCACCCGGGCTGGAGTTGCAGAGCCCAGCAGATCCCTGCGG
1	missense_variant	942,451	T	C	null	null	null	0.999836	missense_variant	missense_variant	false	151,999	152,024	0	ENSG00000187634	3,175	ENSG00000187634	missense_variant	249	missense_variant	CCGAGACGGACCGGGTAGGGGATTGCAAAGGGCCGGCTCGGACCGCCTCGGACCCCCCGACCCCGCGTTGTCCCCCTCCCCACCAGGCTACGGCTTCCTGCCCCCCGCGCAGGCGGAGATGTTCGCC	TGGCAGCAGGAGCTCCTGCGGAAGCAGAACCTGGCCCGGTAGGTGCGGGGAGGCGGGCGGGGCCGCGCGGCCCGGGAGGCGGCTGACCCGCGTCTGCCCCCGGCCCAGGCTGGAGCTGCCCGCCGAC	CGGCAGCAGGAGCTCCTGCGGAAGCAGAACCTGGCCCGGTAGGTGCGGGGAGGCGGGCGGGGCCGCGCGGCCCGGGAGGCGGCTGACCCGCGTCTGCCCCCGGCCCAGGCTGGAGCTGCCCGCCGAC
1	splice_polypyrimidine_tract_variant	948,245	A	G	null	null	null	0.999921	splice_polypyrimidine_tract_variant	splice_polypyrimidine_tract_variant	false	152,368	152,380	12	ENSG00000188976	8,969	ENSG00000187634	splicing	316	splicing	GCAGGACACACACCTGCAGGACCACAGGCAGCACCAGCTCCGGGAAGCCGATGCAGTGTGCCTGGCTGTGCAGGTACTCCAGGGTGAGGTCGTACAGCTGCTCCACCAGGCCGTCCTGAAGAGCAGG	AGAGAGGGCCGAGTGCATCAGGGAGAGGCTGGGGCTGGGCACTCAGGCCCCTTCCCCTCAGGCTGTCAGGGCAGCGCCATCTCCAGGGCACGGACTGCAAGGAAGGGGCTCCTGGGCCCCAGCCCTG	GGAGAGGGCCGAGTGCATCAGGGAGAGGCTGGGGCTGGGCACTCAGGCCCCTTCCCCTCAGGCTGTCAGGGCAGCGCCATCTCCAGGGCACGGACTGCAAGGAAGGGGCTCCTGGGCCCCAGCCCTG
1	missense_variant	953,279	T	C	null	null	null	0.934141	missense_variant	missense_variant	false	142,266	152,296	0	ENSG00000188976	5,976	ENSG00000188976	missense_variant	7	missense_variant	ACAGACGCAGGGCCCACCACTACCTTGAGGACGGGGCCAAGGAAAGTGTCCTTCTTGTGCCGGCAGACTCTGCTGAGGACCAGGAAAGCCAGCACCCGCAGAGACTCTTCCCCAGTGCTCCATACGA	TCACCATTCTCTGCAGAAGGTCAGACGTCACTGGTGGCCCCCCAGCCTCCTCAGCAGGGATGCCCCAGGGCCAGCACAGCCCTCCCCAGCCAGGCAAAGGCTCCCATGGCCACCAGCTCTTCCCAAA	CCACCATTCTCTGCAGAAGGTCAGACGTCACTGGTGGCCCCCCAGCCTCCTCAGCAGGGATGCCCCAGGGCCAGCACAGCCCTCCCCAGCCAGGCAAAGGCTCCCATGGCCACCAGCTCTTCCCAAA
1	splice_donor_region_variant	953,778	G	C	null	null	null	0.911333	splice_donor_region_variant	splice_donor_region_variant	false	138,446	151,916	3	ENSG00000188976	5,477	ENSG00000188976	splicing	320	splicing	CCTCTCTAGCCAAGCGGAGCCAGTGGAGTGTGGGCACCACCTGTGCCCTGGCCAGGAGTGGGATGTGGTGGGGGTAGCCGTGTGGCCCCCCGACCCCATGACAGACACAGGGAGGGGACTGGGCCAC	GAACCTTGAGCAGCATGCGGCACTGCTTGGGGAAGGTCAGGAAGCAGGGCACCAGCACGCTGATGTGCCGCAGCACGGCCGCCAACACCGTCGTCTCCGACAGACAGGACACCAGCTGGGGGCAGGA	CAACCTTGAGCAGCATGCGGCACTGCTTGGGGAAGGTCAGGAAGCAGGGCACCAGCACGCTGATGTGCCGCAGCACGGCCGCCAACACCGTCGTCTCCGACAGACAGGACACCAGCTGGGGGCAGGA
1	splice_donor_region_variant	953,779	A	C	null	null	null	0.911311	splice_donor_region_variant	splice_donor_region_variant	false	138,450	151,924	2	ENSG00000188976	5,476	ENSG00000188976	splicing	320	splicing	CTCTCTAGCCAAGCGGAGCCAGTGGAGTGTGGGCACCACCTGTGCCCTGGCCAGGAGTGGGATGTGGTGGGGGTAGCCGTGTGGCCCCCCGACCCCATGACAGACACAGGGAGGGGACTGGGCCACG	AACCTTGAGCAGCATGCGGCACTGCTTGGGGAAGGTCAGGAAGCAGGGCACCAGCACGCTGATGTGCCGCAGCACGGCCGCCAACACCGTCGTCTCCGACAGACAGGACACCAGCTGGGGGCAGGAG	CACCTTGAGCAGCATGCGGCACTGCTTGGGGAAGGTCAGGAAGCAGGGCACCAGCACGCTGATGTGCCGCAGCACGGCCGCCAACACCGTCGTCTCCGACAGACAGGACACCAGCTGGGGGCAGGAG
1	splice_region_variant	962,350	C	T	null	null	null	0.06915	splice_region_variant	splice_region_variant	false	10,527	152,234	4	ENSG00000187961	1,765	ENSG00000187961	splicing	336	splicing	TGACTCTGCTCGGCCCCTCCCAGTATGAACACTCAGCCCCCACCTGCTAACCCTCCCTCCTAGGCATCTTCAGGGCTCCCTGGGTCCACAGGACCCTCCCCAGATCTCAGGTCTGAGGACCCCCACT	CCCAGGTTCTGGAACTGGTCTCTAGCGACAGCCTGAACGTGCCTTCAGAGGAGGAGGTCTACCGAGCCGTCCTGAGCTGGGTGAAACACGACGTGGACGCCCGCAGGCAGCATGTCCCACGGGTGAG	TCCAGGTTCTGGAACTGGTCTCTAGCGACAGCCTGAACGTGCCTTCAGAGGAGGAGGTCTACCGAGCCGTCCTGAGCTGGGTGAAACACGACGTGGACGCCCGCAGGCAGCATGTCCCACGGGTGAG
1	synonymous_variant	962,358	C	T	null	null	null	0.099959	synonymous_variant	synonymous_variant	false	15,218	152,242	0	ENSG00000187961	1,773	ENSG00000187961	synonymous_variant	283	synonymous_variant	CTCGGCCCCTCCCAGTATGAACACTCAGCCCCCACCTGCTAACCCTCCCTCCTAGGCATCTTCAGGGCTCCCTGGGTCCACAGGACCCTCCCCAGATCTCAGGTCTGAGGACCCCCACTCCCAGGTT	CTGGAACTGGTCTCTAGCGACAGCCTGAACGTGCCTTCAGAGGAGGAGGTCTACCGAGCCGTCCTGAGCTGGGTGAAACACGACGTGGACGCCCGCAGGCAGCATGTCCCACGGGTGAGGCGCGGCC	TTGGAACTGGTCTCTAGCGACAGCCTGAACGTGCCTTCAGAGGAGGAGGTCTACCGAGCCGTCCTGAGCTGGGTGAAACACGACGTGGACGCCCGCAGGCAGCATGTCCCACGGGTGAGGCGCGGCC
1	missense_variant	973,858	G	C	null	null	null	0.670504	missense_variant	missense_variant	false	101,985	152,102	0	ENSG00000187583	345	ENSG00000187583	missense_variant	202	missense_variant	GGGGCTGCCCCAAGCCTGAGGTCTGTTCAGGCTCTGATGGGAGGTTGAGGTTCTGGGGGCCCCTGGCTGCCACCCAGGCCCCAGCCCTGGCTCTCCCTGCAGTTCCTCAGTGCCATGCAGAGTGCAC	GTGGACCCACGCCCTCGAGCCCACTCCCCTCGGTGCCTGTGTCTGTGCCTGCCTCTGACCCTCGCTCCTGCTCCTCCGGCCCCGCTGGCCCCTACTTGCTCTCCAAGAAGGGAGCCCTGCAGTCCAG	CTGGACCCACGCCCTCGAGCCCACTCCCCTCGGTGCCTGTGTCTGTGCCTGCCTCTGACCCTCGCTCCTGCTCCTCCGGCCCCGCTGGCCCCTACTTGCTCTCCAAGAAGGGAGCCCTGCAGTCCAG
1	missense_variant	973,929	T	C	null	null	null	0.215015	missense_variant	missense_variant	false	32,702	152,092	0	ENSG00000187583	416	ENSG00000187583	missense_variant	54	missense_variant	ACCCAGGCCCCAGCCCTGGCTCTCCCTGCAGTTCCTCAGTGCCATGCAGAGTGCACGTGGACCCACGCCCTCGAGCCCACTCCCCTCGGTGCCTGTGTCTGTGCCTGCCTCTGACCCTCGCTCCTGC	TCCTCCGGCCCCGCTGGCCCCTACTTGCTCTCCAAGAAGGGAGCCCTGCAGTCCAGAGCCGCTCAGAGACACCGGGGCTCAGCCAAGGATGGGGGGCCGCAGCCCCCAGACGCCCCTCAGCTTGTGA	CCCTCCGGCCCCGCTGGCCCCTACTTGCTCTCCAAGAAGGGAGCCCTGCAGTCCAGAGCCGCTCAGAGACACCGGGGCTCAGCCAAGGATGGGGGGCCGCAGCCCCCAGACGCCCCTCAGCTTGTGA
1	missense_variant	976,215	A	G	null	null	null	0.714611	missense_variant	missense_variant	false	108,801	152,252	0	ENSG00000187642	2,702	ENSG00000187583	missense_variant	170	missense_variant	CCCGGGCGAGGGCGGCACCTCGTCCTGCCCTGGGCGCCTGTGGTCGTCTCCTCATCCTGCATCTCCCTGGCCCGGGCCTGGCTCCTAGGAGCTGGGGCTGGGGCTGTGGCTGCGGCGCCCTTGCCCC	ACCTGCCGGCGGAAGTAGCGGATGGCAGAGATGGTGCCGACGTTGGCCAGCAAGGCTGCAAGAGAAGCACAGGCTCTTCTGAGGGCCAGCCTGGCTGTCGGCACCGTCTGCCCGCAAGACCCAGCCC	GCCTGCCGGCGGAAGTAGCGGATGGCAGAGATGGTGCCGACGTTGGCCAGCAAGGCTGCAAGAGAAGCACAGGCTCTTCTGAGGGCCAGCCTGGCTGTCGGCACCGTCTGCCCGCAAGACCCAGCCC
1	missense_variant	978,953	C	G	null	null	null	0.531233	missense_variant	missense_variant	false	80,808	152,114	0	ENSG00000187642	3,139	ENSG00000187642	missense_variant	11	missense_variant	CCTGGACAGTGTGTGCCTGGGATCTGGACGGGCTGTGGGATCCGAGAGCACGTACCTGCCCGTCTAAGAGCCAGGTGGAGCCGCTCTACCACGGCTGGCTTGAGGGGGGTCCCAGGCCCCGCCCCCT	CGGAGGCCGACCGGGGAGGCTCCAGGGCCTGCAGTGGGAGCGGGACAGCCGGCCCCAGCACGCCCTCAAGCCTGTCCTCCCCGAAGAAGAAGTGTTCATAGACCTCAGGGATGGAGATGGGCACGGG	GGGAGGCCGACCGGGGAGGCTCCAGGGCCTGCAGTGGGAGCGGGACAGCCGGCCCCAGCACGCCCTCAAGCCTGTCCTCCCCGAAGAAGAAGTGTTCATAGACCTCAGGGATGGAGATGGGCACGGG
1	missense_variant	979,472	G	C	null	null	null	0.501446	missense_variant	missense_variant	false	76,309	152,178	0	ENSG00000187642	2,620	ENSG00000187642	missense_variant	60	missense_variant	GGGCGAGGCAGGTGCTTGAGGATCCGAGGCTGGTGGGGCCGGGGCCCGACAGCCACAGCCTCCCAGGCTCCGGGCCCCCCGTGGGCCCCAGTTGCTGTCTGGGGGGCTGAGGGCCGGGCTGAGGCCT	GTCCTGAGCCTGGCTTATTGGGGCTGGGCCCAGCCACGGAGAAGCGCACTTTCTTCTTCCTGGGGACTTGGGTGAGACCCAGTGCGGGTGCCCCAGAGCAGCATCCGGGGGCCCCTGCTGAGGGCTC	CTCCTGAGCCTGGCTTATTGGGGCTGGGCCCAGCCACGGAGAAGCGCACTTTCTTCTTCCTGGGGACTTGGGTGAGACCCAGTGCGGGTGCCCCAGAGCAGCATCCGGGGGCCCCTGCTGAGGGCTC
1	missense_variant	979,496	T	C	null	null	null	0.966359	missense_variant	missense_variant	false	147,134	152,256	0	ENSG00000187642	2,596	ENSG00000187642	missense_variant	60	missense_variant	CGAGGCTGGTGGGGCCGGGGCCCGACAGCCACAGCCTCCCAGGCTCCGGGCCCCCCGTGGGCCCCAGTTGCTGTCTGGGGGGCTGAGGGCCGGGCTGAGGCCTGTCCTGAGCCTGGCTTATTGGGGC	TGGGCCCAGCCACGGAGAAGCGCACTTTCTTCTTCCTGGGGACTTGGGTGAGACCCAGTGCGGGTGCCCCAGAGCAGCATCCGGGGGCCCCTGCTGAGGGCTCAGACACAACCGCCTCCATCTCCAC	CGGGCCCAGCCACGGAGAAGCGCACTTTCTTCTTCCTGGGGACTTGGGTGAGACCCAGTGCGGGTGCCCCAGAGCAGCATCCGGGGGCCCCTGCTGAGGGCTCAGACACAACCGCCTCCATCTCCAC
1	missense_variant	999,842	C	A	null	null	null	0.457054	missense_variant	missense_variant	false	69,453	151,958	0	ENSG00000188290	138	ENSG00000188290	missense_variant	198	missense_variant	TGAGGGTTTTGAGCTGAGCGAGGCTCTCGTTAATACGCGCTCGGCGCCGCTTCTCCATGACCGGCTTGGAGGACTGCGGGTCGGGCACCGGCTGAGTCCCGCGTCCCTCCCGCCCCCCGGTCGCCCC	CCTCACGCCCGGCCGGGACCCCACCTTGCGGTGCTCGGCCGCGCTCCGGGGCTTGTCTGGGGTCCGGCTGGCGCTGGCCGGCGCTCCTGCCATCGGCGAGGCGCTCGGTTTCCCCGGCGTGTCTGCG	ACTCACGCCCGGCCGGGACCCCACCTTGCGGTGCTCGGCCGCGCTCCGGGGCTTGTCTGGGGTCCGGCTGGCGCTGGCCGGCGCTCCTGCCATCGGCGAGGCGCTCGGTTTCCCCGGCGTGTCTGCG
1	tss_proximal	1,000,291	C	G	null	null	null	0.172373	upstream_gene_variant	PLS	false	26,210	152,054	193	ENSG00000188290	118	ENSG00000188290	tss_proximal	268	tss_proximal	TTCTTTCCCACACTCGCCCCAGCCAATCGACGGCCGCGCTCCTCCCCCGCTCGCTGTCAGTCACGCCTCGGCTCCGGGCGCGGCCTCCGCGGGCGACAATGGCATGCGGGGCCCCCGCCCGCGCCCC	CCTCCGACACCGCTGGGGACAGGGCCGGGTGATCCCGCGCTCCCCGATGCAGCCGGGGCCGAGCAACGCGCCGGGAGGGGCCGCTGGGGGCGAACGGGGCCCGGGACCCCCGGGGCTGGGCGGAGTC	GCTCCGACACCGCTGGGGACAGGGCCGGGTGATCCCGCGCTCCCCGATGCAGCCGGGGCCGAGCAACGCGCCGGGAGGGGCCGCTGGGGGCGAACGGGGCCCGGGACCCCCGGGGCTGGGCGGAGTC
1	tss_proximal	1,000,335	C	T	null	null	null	0.176991	upstream_gene_variant	PLS	false	26,909	152,036	237	ENSG00000188290	162	ENSG00000188290	tss_proximal	269	tss_proximal	CCCCGCTCGCTGTCAGTCACGCCTCGGCTCCGGGCGCGGCCTCCGCGGGCGACAATGGCATGCGGGGCCCCCGCCCGCGCCCCCCTCCGACACCGCTGGGGACAGGGCCGGGTGATCCCGCGCTCCC	CGATGCAGCCGGGGCCGAGCAACGCGCCGGGAGGGGCCGCTGGGGGCGAACGGGGCCCGGGACCCCCGGGGCTGGGCGGAGTCTCGGGGCTCACTCTCCCGCCCAGGGGGCCGGGAGCCGGGGCTGG	TGATGCAGCCGGGGCCGAGCAACGCGCCGGGAGGGGCCGCTGGGGGCGAACGGGGCCCGGGACCCCCGGGGCTGGGCGGAGTCTCGGGGCTCACTCTCCCGCCCAGGGGGCCGGGAGCCGGGGCTGG
1	missense_variant	1,014,228	G	A	null	null	null	0.383614	missense_variant	missense_variant	false	58,393	152,218	0	ENSG00000187608	730	ENSG00000187608	missense_variant	239	missense_variant	TTCCAGCAGCGTCTGGCTGTCCACCCGAGCGGTGTGGCGCTGCAGGACAGGGTCCCCCTTGCCAGCCAGGGCCTGGGCCCCGGCAGCACGGTCCTGCTGGTGGTGGACAAATGCGACGAACCTCTGA	GCATCCTGGTGAGGAATAACAAGGGCCGCAGCAGCACCTACGAGGTACGGCTGACGCAGACCGTGGCCCACCTGAAGCAGCAAGTGAGCGGGCTGGAGGGTGTGCAGGACGACCTGTTCTGGCTGAC	ACATCCTGGTGAGGAATAACAAGGGCCGCAGCAGCACCTACGAGGTACGGCTGACGCAGACCGTGGCCCACCTGAAGCAGCAAGTGAGCGGGCTGGAGGGTGTGCAGGACGACCTGTTCTGGCTGAC
1	splice_region_variant	1,041,950	T	C	null	null	null	0.872728	splice_region_variant	splice_region_variant	false	132,028	151,282	5	ENSG00000188157	7,843	ENSG00000188157	splicing	341	splicing	GCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCG	TCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGG	CCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGG
1	splice_polypyrimidine_tract_variant	1,049,886	C	T	null	null	null	0.451946	splice_polypyrimidine_tract_variant	splice_polypyrimidine_tract_variant	false	68,450	151,456	16	ENSG00000188157	15,779	ENSG00000188157	splicing	318	splicing	GGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCC	CGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGG	TGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGG
1	splice_donor_5th_base_variant	1,051,820	C	T	null	null	null	0.786846	splice_donor_5th_base_variant	splice_donor_5th_base_variant	false	119,758	152,200	4	ENSG00000188157	17,713	ENSG00000188157	splicing	302	splicing	CCACGAGGCCCCACCCTCACCTGCCTATCTCACAGGGCTGGTGGAGAAGTCAGCGGGGGACGTGGATACCTTGGCCTTTGACGGGCGGACCTTTGTCGAGTACCTCAACGCTGTGACCGAGAGGTAA	CGTGCCATCCTCTGCTGGCTGTCGGTTCCATCTGTGCCCTCGGGGCGGGACACCGGACCCCCACACCAGGAGGGCCCAGGAGGGGACGGCCCGGTGCTGCCACCTCTGTCCTCCCGCCTCTCTCTCA	TGTGCCATCCTCTGCTGGCTGTCGGTTCCATCTGTGCCCTCGGGGCGGGACACCGGACCCCCACACCAGGAGGGCCCAGGAGGGGACGGCCCGGTGCTGCCACCTCTGTCCTCCCGCCTCTCTCTCA
1	missense_variant	1,071,842	G	T	null	null	null	0.119027	missense_variant	missense_variant	false	18,123	152,260	0	ENSG00000237330	2,463	ENSG00000237330	missense_variant	10	missense_variant	CGGGGACCGACTTCCAGTGGCTGCTGTGCCCTTGGGCCCCCCAGTGGGGGACGCCCCATGGAGCTGGGCGAGGGCGGCTGACCTGGGCAGAGGCTGCTGGCCCTAATTATCAGTCAGAGGCCCGAGG	GGGGAGGCGGCTGTGCTGGTGGCCGGGGGCCGGGGGGGCAGGGGCAGGCAGCGCAGGTTCCCGGTCTTGAGCGCGCACTGCACCGGCCAGAGTGCCACACAGAAGAGCATCAGCAGCAGGGCAGAGA	TGGGAGGCGGCTGTGCTGGTGGCCGGGGGCCGGGGGGGCAGGGGCAGGCAGCGCAGGTTCCCGGTCTTGAGCGCGCACTGCACCGGCCAGAGTGCCACACAGAAGAGCATCAGCAGCAGGGCAGAGA
1	missense_variant	1,072,052	G	A	null	null	null	0.499506	missense_variant	missense_variant	false	75,886	151,922	0	ENSG00000237330	2,253	ENSG00000237330	missense_variant	251	missense_variant	CGGCCAGAGTGCCACACAGAAGAGCATCAGCAGCAGGGCAGAGACCAGTGCCATGCGCCTCCAGTCCCTGCAGCGCGCCCAGCAGCGGGCCAGGCGGCCCCGGCGGGGGGCAGGGTCCCGGGCGGGC	GCGGGCGGCTCGGCAGGCTTGCTCAAACCCACGTCCACGCATACGAAACCGGGCTCGCGGCCAGGTGTGGTGGGCAGTGGCTGGCAGCACAGCTTGGTGCCCTCCAGCCACACAGGCTCCTCACGCC	ACGGGCGGCTCGGCAGGCTTGCTCAAACCCACGTCCACGCATACGAAACCGGGCTCGCGGCCAGGTGTGGTGGGCAGTGGCTGGCAGCACAGCTTGGTGCCCTCCAGCCACACAGGCTCCTCACGCC
1	5_prime_UTR_variant	1,116,304	A	C	null	null	null	0.12898	5_prime_UTR_variant	5_prime_UTR_variant	false	19,607	152,016	0	ENSG00000131591	51	ENSG00000131591	5_prime_UTR_variant	299	5_prime_UTR_variant	AAAGAAAACTACAACTCCCGGCGGCCCGCGCGAGAGCCGCCCTCGCCTGGTGGTACCATCGCGCGCGGCCGTGGGTGGGGCGCCGGGGCGGGGCGCGAAGCGCCCTGGGAAATGTAGTCCTAGAAGA	ACCAGCGCATGTCTCGGGTCCCTGACACGGAGGGACTACATTCCCCCGGATTCCTCGCGCGCCGGCTGCTTGGCGTTGCCGGGAGACGGGGCGGGGCGTCGTCGGGGTCTCCCGGGCGACCGCACAA	CCCAGCGCATGTCTCGGGTCCCTGACACGGAGGGACTACATTCCCCCGGATTCCTCGCGCGCCGGCTGCTTGGCGTTGCCGGGAGACGGGGCGGGGCGTCGTCGGGGTCTCCCGGGCGACCGCACAA
1	splice_donor_5th_base_variant	1,173,931	G	A	null	null	null	0.12086	splice_donor_5th_base_variant	splice_donor_5th_base_variant	false	18,398	152,226	4	ENSG00000162571	32	ENSG00000162571	splicing	301	splicing	CCATCCTCCGAAAACCCAAGCTCACCTCTGGGTTCCGGCTGGGTGGGGGTTGCCAGGAGACGGTTGCCAGGTCACCACTGTTGTTTCCTGGCCCAGGCTCCCAGGACCTTGTGGGCTGGGCAGGTAA	GAAGCGCCGGCGGCCACCAGCTGGGGTCCAGTGGGCTCGGCCCCGCCCTCCTACGCCCTGCCTGCGGGTCCCCTCGGGAGGCTGCTCAGGAGAGGAGGAGGCTGGGGAGGGGACTGGACAGGGATCG	AAAGCGCCGGCGGCCACCAGCTGGGGTCCAGTGGGCTCGGCCCCGCCCTCCTACGCCCTGCCTGCGGGTCCCCTCGGGAGGCTGCTCAGGAGAGGAGGAGGCTGGGGAGGGGACTGGACAGGGATCG
1	missense_variant	1,179,288	G	A	null	null	null	0.087532	missense_variant	missense_variant	false	13,331	152,298	0	ENSG00000162571	408	ENSG00000162571	missense_variant	202	missense_variant	GAGGGTCAGAGCGGCATCTTCCCTTCAGGGCCCTCGCCCGGGCACCCCCCGGCCAATGGACCACAGCTGCACCCGGTTCATCCACCGCCGGGGACCACCCACTCGGACCCGAGCCGGCTTCAAGAGG	GGCAAGAGGCCAAGGATCCAGCAGAGGCCTCGGGCTCGAGTCTCAGGTGAATAGAGCAGCCCTGGGTGGCCTCCTACCTCTCCAAGGCCAAGGCCTCCCTGGGACGGGTGCCCCATACCCAAGGAAG	AGCAAGAGGCCAAGGATCCAGCAGAGGCCTCGGGCTCGAGTCTCAGGTGAATAGAGCAGCCCTGGGTGGCCTCCTACCTCTCCAAGGCCAAGGCCTCCCTGGGACGGGTGCCCCATACCCAAGGAAG
1	missense_variant	1,180,851	T	C	null	null	null	0.176422	missense_variant	missense_variant	false	25,897	146,790	0	ENSG00000162571	1,153	ENSG00000162571	missense_variant	253	missense_variant	CCTCCAGGAGAGCAGCTGCTGTACCAGCTTCCCAACAACAAGCTCCTCACCACCAAGATCGGGCTGCTCAGCACCCTTCGGGGACGGGCACGGGCCATGAGCAAGGCCAGCAAGGTGCCGGGGGGGG	TCCAGGCCAGGTGAGTCTGCCCCTGCCCCTGCCCCCGTCCCTGCGCCCGCCCCTACGCCTGCCCCTGCCCCTGCCCCTGCACCCGCCCCACCCCTGCCCCTGCGCCCGCCCCTGCCCTTGCCCCTGC	CCCAGGCCAGGTGAGTCTGCCCCTGCCCCTGCCCCCGTCCCTGCGCCCGCCCCTACGCCTGCCCCTGCCCCTGCCCCTGCACCCGCCCCACCCCTGCCCCTGCGCCCGCCCCTGCCCTTGCCCCTGC
1	missense_variant	1,185,051	G	A	null	null	null	0.135852	missense_variant	missense_variant	false	20,675	152,188	0	ENSG00000162571	5,353	ENSG00000162571	missense_variant	83	missense_variant	TCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGAAGAGCCCTCTGTACATGCTGCTGAAGGAGCACACGGTGTGGAGCATGGAACACCTCAACCGCTACATCA	GTGACACGTTCTGGAAGGCCCGGGGCCTCGCCAAGGACTGGGTCTTCACCACCCTCAAGGTGCGTCCACTGTGCCCTCCAGTCTGGGAGTGAGATCCCTCGGGGCGGGGGTGTGTGGTCAGGCTGGG	ATGACACGTTCTGGAAGGCCCGGGGCCTCGCCAAGGACTGGGTCTTCACCACCCTCAAGGTGCGTCCACTGTGCCCTCCAGTCTGGGAGTGAGATCCCTCGGGGCGGGGGTGTGTGGTCAGGCTGGG
1	missense_variant	1,197,558	G	A	null	null	null	0.126761	missense_variant	missense_variant	false	19,233	151,726	0	ENSG00000162571	8,121	ENSG00000186891	missense_variant	200	missense_variant	GCACCAGACCTGGTGCTCGAGACCTTCCGGAAGAGCCTGCGCGGCCAGAAGATGTTGCCTCTGCTGTCCCAGCGCCGCTTCGTGCTCCTGCACAACGGTGAGGCCGACCCGCGGCCGCACCTGGGGG	GCTCGTGCAGCCTCCGCCGCTGGCCGCCCCTGCCCACCCGCCAGGCCAAGTCCTCCGGGCCACCCATGCCGCATGCCCCAGACCAGCCGGGCGCCCGCAGGCCTGCGCCACCTCCCTTGGTGCCGCA	ACTCGTGCAGCCTCCGCCGCTGGCCGCCCCTGCCCACCCGCCAGGCCAAGTCCTCCGGGCCACCCATGCCGCATGCCCCAGACCAGCCGGGCGCCCGCAGGCCTGCGCCACCTCCCTTGGTGCCGCA
1	missense_variant	1,211,863	A	C	null	null	null	0.082886	missense_variant	missense_variant	false	12,611	152,148	0	ENSG00000186827	2,289	ENSG00000186827	missense_variant	250	missense_variant	TGGTCCCTCCGGAGCAGGTACAGGGCCAGCAGGATGGCCAGGGGGCCCAGCAGCCCCAGCACCAGGCCCAGGCCCAGGATGGCGGCAACCGCACGGCCTGCAGGAAGGGGTCTGCTGGGTGGGGTCC	ACAGGAGGGGCCCCCATGCCGCCCTCCCCTTCTCCTATTCGGGTTGGGGGCCCCGCTGGGCTGGGCCAGGCGCCCTTACCCCCGGGGACCTCCACGGGCCGGGTGGAGGGTCCCTGTGAGGTTCTGG	CCAGGAGGGGCCCCCATGCCGCCCTCCCCTTCTCCTATTCGGGTTGGGGGCCCCGCTGGGCTGGGCCAGGCGCCCTTACCCCCGGGGACCTCCACGGGCCGGGTGGAGGGTCCCTGTGAGGTTCTGG
1	missense_variant	1,211,917	G	A	null	null	null	0.081076	missense_variant	missense_variant	false	12,335	152,142	0	ENSG00000186827	2,235	ENSG00000186827	missense_variant	251	missense_variant	CCCAGCACCAGGCCCAGGCCCAGGATGGCGGCAACCGCACGGCCTGCAGGAAGGGGTCTGCTGGGTGGGGTCCACAGGAGGGGCCCCCATGCCGCCCTCCCCTTCTCCTATTCGGGTTGGGGGCCCC	GCTGGGCTGGGCCAGGCGCCCTTACCCCCGGGGACCTCCACGGGCCGGGTGGAGGGTCCCTGTGAGGTTCTGGGCCAGGCTTCAGTGGGCTGGACAGTGATGGGCCTGGCCGGGGGGCCCTGGGTCT	ACTGGGCTGGGCCAGGCGCCCTTACCCCCGGGGACCTCCACGGGCCGGGTGGAGGGTCCCTGTGAGGTTCTGGGCCAGGCTTCAGTGGGCTGGACAGTGATGGGCCTGGCCGGGGGGCCCTGGGTCT
1	missense_variant	1,212,042	C	T	null	null	null	0.316989	missense_variant	missense_variant	false	48,202	152,062	0	ENSG00000186827	2,110	ENSG00000186827	missense_variant	46	missense_variant	CCGCTGGGCTGGGCCAGGCGCCCTTACCCCCGGGGACCTCCACGGGCCGGGTGGAGGGTCCCTGTGAGGTTCTGGGCCAGGCTTCAGTGGGCTGGACAGTGATGGGCCTGGCCGGGGGGCCCTGGGT	CTCCTGGGGCTGCGTGGCTGGGGGGTCCCTGTCCTCACAGATTGCGTCCGAGCTATTGCTGGCCGGCTGCAGGGTGTGCTTCCCAGCCAAGGTGCAGCTGTTGGGGAACAGGAGGTGTTGCTCAGGC	TTCCTGGGGCTGCGTGGCTGGGGGGTCCCTGTCCTCACAGATTGCGTCCGAGCTATTGCTGGCCGGCTGCAGGGTGTGCTTCCCAGCCAAGGTGCAGCTGTTGGGGAACAGGAGGTGTTGCTCAGGC
1	missense_variant	1,212,898	C	T	null	null	null	0.073733	missense_variant	missense_variant	false	11,224	152,224	0	ENSG00000186827	1,254	ENSG00000186827	missense_variant	231	missense_variant	CCTGTGGGGCAGGCACTTGCCCCCCATGGCTGGGTGGTGGGTTTGGCCTCTGGAAGCCCTCCCTGCCCACATCCCACCCGTGGGCCCTGACCCGGGAGCTCGGTCTTGAGGATGCCAGAGGAGGCAC	CGGTGGGGCCAGGTCCCTGCGGCCCACGGCCCATCTGCGTCACAGACAGCCGCTATGCACACCCCCAACCGCCGGCCGCAGCCACCGAGCTCACCAACTCCAGGCTTGTAGCTGTCCAGGGGCTGGG	TGGTGGGGCCAGGTCCCTGCGGCCCACGGCCCATCTGCGTCACAGACAGCCGCTATGCACACCCCCAACCGCCGGCCGCAGCCACCGAGCTCACCAACTCCAGGCTTGTAGCTGTCCAGGGGCTGGG
1	missense_variant	1,232,800	G	C	null	null	null	0.095046	missense_variant	missense_variant	false	14,367	151,158	0	ENSG00000176022	562	ENSG00000176022	missense_variant	68	missense_variant	TCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGA	GCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGC	CCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGC
1	missense_variant	1,233,177	G	C	60,487	C4017377:Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	clinvar	0	missense_variant	missense_variant	true	null	null	0	ENSG00000176022	939	ENSG00000176022	missense_variant	90	missense_variant	CACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGT	GCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTC	CCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTC
1	missense_variant	1,243,102	A	G	null	null	null	0.159369	missense_variant	missense_variant	false	24,116	151,322	0	ENSG00000184163	3,619	ENSG00000184163	missense_variant	241	missense_variant	CCAGTGCCCAGAGACCCCTGTGGCCTGTGAGCCCCTCCAAGGGTGGTCCGGGGGCTGCCGCCTGGAGCGGGGGCTGAGGTCACTCACGTGTGGCGCTGGCACAGGGACTCAATACAGATGAGAACAC	ACACCACGTCCCGGGCCCGCAGCCGGGCCTTGCCCTGCAGCTCACTGTGGTCTGCGGAGAGAGCCCTGGGGAGGGTGGTGCATGGGGGGCGGGGTGGGGGCTGGTGGGGAGGGGCTTCAGGGCACAC	GCACCACGTCCCGGGCCCGCAGCCGGGCCTTGCCCTGCAGCTCACTGTGGTCTGCGGAGAGAGCCCTGGGGAGGGTGGTGCATGGGGGGCGGGGTGGGGGCTGGTGGGGAGGGGCTTCAGGGCACAC
1	missense_variant	1,243,545	G	A	null	null	null	0.107998	missense_variant	missense_variant	false	16,436	152,188	0	ENSG00000184163	3,176	ENSG00000184163	missense_variant	249	missense_variant	ACACGGCACTGCCCCATCCGGCTCACCCACGTGCAGACTGGCAGAGAACTGGAAGATGCCGGACACGGGGGCCGTGAACCGACCCGAGGCCAGGCTCAGACCGGAGCCTCGCAGGAAGGCACCTTGG	GCAGCAGGCTGTGAGGGGCAGTGGGTGAGCGGCCAGCGCAGGGCCTGGCCCCCACCCCACAGACCCCGCCTGGGGAAGGTGCCTGCAACCGACAGCCCCTCACTCGGAGCAGCTCTCCCGGGACCCT	ACAGCAGGCTGTGAGGGGCAGTGGGTGAGCGGCCAGCGCAGGGCCTGGCCCCCACCCCACAGACCCCGCCTGGGGAAGGTGCCTGCAACCGACAGCCCCTCACTCGGAGCAGCTCTCCCGGGACCCT
1	splice_region_variant	1,257,135	A	G	null	null	null	0.08179	splice_region_variant	splice_region_variant	false	12,432	151,998	4	ENSG00000160087	10,412	ENSG00000184163	splicing	350	splicing	TCTATACTGCCCAGGGTGGGGCCCTTCTCCACCATGAAGCTCAGGAGCCCAGTCAGGATGGTGGAGACAGACCAGGCCGGGTTCCACGTGTCCGGGTGGAAATCCGTGATAGAAAGACACAGCCTGC	AAAACGGGGGCCCCGTCAGTGCACACTCCCCACCGCAGCCAGAAAGCCTCCGCGGCCCCTCCAGGCACCTTACCTGGTGTTGCACTTAAACCTCCCGTTGGGAGTGATCATATAGATACTGGGAGGT	GAAACGGGGGCCCCGTCAGTGCACACTCCCCACCGCAGCCAGAAAGCCTCCGCGGCCCCTCCAGGCACCTTACCTGGTGTTGCACTTAAACCTCCCGTTGGGAGTGATCATATAGATACTGGGAGGT
1	missense_variant	1,264,812	C	G	null	null	null	0.082021	missense_variant	missense_variant	false	12,474	152,082	0	ENSG00000160087	8,658	ENSG00000160087	missense_variant	195	missense_variant	ATTGCCTGAGGTCAGGAGTTCAACACCAGCCTGGGCAACACGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCAGCCATGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAG	CCAGGAGAATCGCTTGAACCTGGAAGACGGAGGTTGCAGTGAGCCGAGGTCACACCGCTGCACTCCAGCCTGAGTGACAGAAATAGTACTCAAAAGAAACTACTAATGGGATGACGTATAGTAATGT	GCAGGAGAATCGCTTGAACCTGGAAGACGGAGGTTGCAGTGAGCCGAGGTCACACCGCTGCACTCCAGCCTGAGTGACAGAAATAGTACTCAAAAGAAACTACTAATGGGATGACGTATAGTAATGT
1	missense_variant	1,285,621	A	G	null	null	null	0.061904	missense_variant	missense_variant	false	9,428	152,300	0	ENSG00000162572	1,487	ENSG00000162572	missense_variant	111	missense_variant	AGAAGGGCAAGTCTTCCCCTGAGCCCCAGACCCCACGCGGGGCGCATGGACACGCTACCGTACTTGCCTTTGGGTAGATCGCCTGGGCCTGTGGCTCCCCAGAGGCCCTGCCACCTGAAGGGATGGC	AGCACAGACCCACTCAGCACAACGCTGCCTGCAAACAGGGCCAGGTAGGGCCTGAGCACCCTGTTCTCTGAGTCCTGCTGCCCCAGCAGCCCAAACTCAAACTCAGCTCCAAGGCTACACTGAGACG	GGCACAGACCCACTCAGCACAACGCTGCCTGCAAACAGGGCCAGGTAGGGCCTGAGCACCCTGTTCTCTGAGTCCTGCTGCCCCAGCAGCCCAAACTCAAACTCAGCTCCAAGGCTACACTGAGACG
1	missense_variant	1,286,887	G	C	null	null	null	0.131143	missense_variant	missense_variant	false	19,890	151,666	0	ENSG00000162572	221	ENSG00000162572	missense_variant	157	missense_variant	CGTCCCAGGCCGAGTCCGGTCCTCCGCCATCTGGAGCTGCTGGACGAGTTTGCCAGGGAGAACATTGACTCCCTGTACAACGTCAACCTCAGCAAAGGCAGAGCCGCCCTCTCCGCCACTGTCCCCC	GCCACGAGCCCCCCTTCCACCTGGACCGGGAGATCCGTCTGCAGAGGCTGAGCCACTCGGGCAGCCGGGTCAGAGTGGGGTTCAGACTGGTGAGTGTCCCAGCCGGGGCCTGCAGCCATCAGGGCCT	CCCACGAGCCCCCCTTCCACCTGGACCGGGAGATCCGTCTGCAGAGGCTGAGCCACTCGGGCAGCCGGGTCAGAGTGGGGTTCAGACTGGTGAGTGTCCCAGCCGGGGCCTGCAGCCATCAGGGCCT
1	missense_variant	1,288,005	G	C	null	null	null	0.159786	missense_variant	missense_variant	false	24,258	151,816	0	ENSG00000162572	895	ENSG00000162572	missense_variant	256	missense_variant	GCCCAACCTGGGCTTTGGGGGGTGAGGGCAGGGCCCATGGAACTGAAGCGTCCCCTCCCAGGACGAGGTGCACCGGCTCGGGAGCCCCTACGGCCACTGCACCGCCGGCGGGGAAGGCGTGGAGGTG	GAGCTGCTACACAACACCTCCTACACCAGGCAGGTGAGGCTGGGCTGGCAGGGGGTGCGGGGGCAGGTGAGGCTGGGCTGGCCAGGGGGTGTGGGCGGGTGGAACGGGGGAGGGGTCTGGGAGAGTA	CAGCTGCTACACAACACCTCCTACACCAGGCAGGTGAGGCTGGGCTGGCAGGGGGTGCGGGGGCAGGTGAGGCTGGGCTGGCCAGGGGGTGTGGGCGGGTGGAACGGGGGAGGGGTCTGGGAGAGTA
1	missense_variant	1,291,377	G	A	null	null	null	0.073379	missense_variant	missense_variant	false	11,175	152,292	0	ENSG00000162572	4,267	ENSG00000162572	missense_variant	171	missense_variant	GCAGGTGCCGCAGCTGCTCTCGGCCATGGGCAGCCTCTGCAGCCTGTGGTTTGGGGCCTCCGTCCTCTCCCTCCTGGAGCTCCTGGAGCTGCTGCTCGATGCTTCTGCCCTCACCCTGGTGCTAGGC	GGCCGCCGGCTCCGCAGGGCGTGGTTCTCCTGGCCCAGAGCCAGCCCTGCCTCAGGGGCGTCCAGCATCAAGCCAGAGGCCAGTCAGATGCCCCCGCCTGCAGGCGGCACGTCAGATGACCCGGAGC	AGCCGCCGGCTCCGCAGGGCGTGGTTCTCCTGGCCCAGAGCCAGCCCTGCCTCAGGGGCGTCCAGCATCAAGCCAGAGGCCAGTCAGATGCCCCCGCCTGCAGGCGGCACGTCAGATGACCCGGAGC
1	missense_variant	1,291,509	G	A	null	null	null	0.069146	missense_variant	missense_variant	false	10,529	152,272	0	ENSG00000162572	4,399	ENSG00000162572	missense_variant	141	missense_variant	CCGGCTCCGCAGGGCGTGGTTCTCCTGGCCCAGAGCCAGCCCTGCCTCAGGGGCGTCCAGCATCAAGCCAGAGGCCAGTCAGATGCCCCCGCCTGCAGGCGGCACGTCAGATGACCCGGAGCCCAGC	GGGCCTCATCTCCCACGGGTGATGCTTCCAGGGGTTCTGGCGGGAGTCTCAGCCGAAGAGAGCTGGGCTGGGCCCCAGCCCCTTGAGACTCTGGACACCTGAACCAGACCTGCCAGGGCTGTGCGAT	AGGCCTCATCTCCCACGGGTGATGCTTCCAGGGGTTCTGGCGGGAGTCTCAGCCGAAGAGAGCTGGGCTGGGCCCCAGCCCCTTGAGACTCTGGACACCTGAACCAGACCTGCCAGGGCTGTGCGAT
1	splice_donor_region_variant	1,298,561	T	C	null	null	null	0.349757	splice_donor_region_variant	splice_donor_region_variant	false	46,724	133,590	5	ENSG00000131584	4,698	ENSG00000131584	splicing	324	splicing	GGGGATGTGGGGAGTCAGGCGGGGCCCATCCCAGGGCTGCTGTGACCCCTGCCCCCACCTGAGGACCCCACCCCCGCCTGAGGACCCCACCCCCGCCTAAGGACCCCGCCCCCACCTGAGGAAGGCC	TCTCACCGGTTCCATGTCTTGAAAGCGTTGCTGGCCCTCTTGAAGAGGTAGCCCTCCATCACCACCCCACTGGGCGCGTCCACGTCAAACTCCACTTTGGACTCATCGTAGGAGAAGTCCTGGGGGG	CCTCACCGGTTCCATGTCTTGAAAGCGTTGCTGGCCCTCTTGAAGAGGTAGCCCTCCATCACCACCCCACTGGGCGCGTCCACGTCAAACTCCACTTTGGACTCATCGTAGGAGAAGTCCTGGGGGG
1	missense_variant	1,313,807	G	A	null	null	null	0.546829	missense_variant	missense_variant	false	83,234	152,212	0	ENSG00000127054	4,985	ENSG00000169972	missense_variant	125	missense_variant	ACAGGAGACCGACGGGTGTGGATGTGCTGGCCGGCCCTGCCGCGGGCCTCACCATCGGTCCTGGGTTGTCAGCAAAAGCCCGGTCGAAGGCCTTGATGTGCTTGAACTCAAACATGTTCCTCTGCAC	GAAAGTCTTGCGGATCTTCTGGTTGGTCCAGGGGATGAACAGCTTGTAGTAGTGGTTGGCCTTCTCGGTCAGCCCCGTGGAGAAGTAGATGGGCACCTTCAGGTTCATGCGCTCCCTGGGGACCACC	AAAAGTCTTGCGGATCTTCTGGTTGGTCCAGGGGATGAACAGCTTGTAGTAGTGGTTGGCCTTCTCGGTCAGCCCCGTGGAGAAGTAGATGGGCACCTTCAGGTTCATGCGCTCCCTGGGGACCACC
1	missense_variant	1,319,063	G	A	null	null	null	0.759125	missense_variant	missense_variant	false	115,466	152,104	0	ENSG00000127054	5,566	ENSG00000127054	missense_variant	35	missense_variant	CCCTGCCCGGCAACACCCCGGGAGCTCCAGCGAGTCTCTGGCCGCTCCAAGCGCTCTGAGGGCACCAGCCTGTCCCACTCTGGCCATTTCAATGCCGCTCGGACAGAGCCTGGTGGGTTCATAAGCC	GGTGCATACCCCCACCCTGCACGTGCTCTCCCGGGTCGGCGCCCAGTCTGGTCTGGGACCCGCATCCTCGCGCTGACGCCTCCTGGTGTCCCCACGGTGCTGGACGCAAGAGTGAGGTGGGGTGGGC	AGTGCATACCCCCACCCTGCACGTGCTCTCCCGGGTCGGCGCCCAGTCTGGTCTGGGACCCGCATCCTCGCGCTGACGCCTCCTGGTGTCCCCACGGTGCTGGACGCAAGAGTGAGGTGGGGTGGGC
1	missense_variant	1,332,271	G	A	null	null	null	0.068832	missense_variant	missense_variant	false	10,479	152,240	0	ENSG00000169962	990	ENSG00000169962	missense_variant	254	missense_variant	GGCTGGAACTGGGTGGCCGCCCTGGGCAGCGACGACGAGTACGGCCGGCAGGGCCTGAGCATCTTCTCGGCCCTGGCCGCGGCACGCGGCATCTGCATCGCGCACGAGGGCCTGGTGCCGCTGCCCC	GTGCCGATGACTCGCGGCTGGGGAAGGTGCAGGACGTCCTGCACCAGGTGAACCAGAGCAGCGTGCAGGTGGTGCTGCTGTTCGCCTCCGTGCACGCCGCCCACGCCCTCTTCAACTACAGCATCAG	ATGCCGATGACTCGCGGCTGGGGAAGGTGCAGGACGTCCTGCACCAGGTGAACCAGAGCAGCGTGCAGGTGGTGCTGCTGTTCGCCTCCGTGCACGCCGCCCACGCCCTCTTCAACTACAGCATCAG
1	missense_variant	1,334,108	G	A	null	null	null	0.058868	missense_variant	missense_variant	false	8,966	152,308	0	ENSG00000169962	2,827	ENSG00000169962	missense_variant	59	missense_variant	GGTCGCACTGTGCACCTGGTACCTGGTGGCCTTCCCGCCGGAGGTGGTGACGGACTGGCACATGCTGCCCACGGAGGCGCTGGTGCACTGCCGCACACGCTCCTGGGTCAGCTTCGGCCTAGCGCAC	GCCACCAATGCCACGCTGGCCTTTCTCTGCTTCCTGGGCACTTTCCTGGTGCGGAGCCAGCCGGGCTGCTACAACCGTGCCCGTGGCCTCACCTTTGCCATGCTGGCCTACTTCATCACCTGGGTCT	ACCACCAATGCCACGCTGGCCTTTCTCTGCTTCCTGGGCACTTTCCTGGTGCGGAGCCAGCCGGGCTGCTACAACCGTGCCCGTGGCCTCACCTTTGCCATGCTGGCCTACTTCATCACCTGGGTCT
1	missense_variant	1,334,174	T	C	null	null	null	0.970365	missense_variant	missense_variant	false	147,839	152,354	0	ENSG00000169962	2,893	ENSG00000169962	missense_variant	66	missense_variant	GCCCACGGAGGCGCTGGTGCACTGCCGCACACGCTCCTGGGTCAGCTTCGGCCTAGCGCACGCCACCAATGCCACGCTGGCCTTTCTCTGCTTCCTGGGCACTTTCCTGGTGCGGAGCCAGCCGGGC	TGCTACAACCGTGCCCGTGGCCTCACCTTTGCCATGCTGGCCTACTTCATCACCTGGGTCTCCTTTGTGCCCCTCCTGGCCAATGTGCAGGTGGTCCTCAGGCCCGCCGTGCAGATGGGCGCCCTCC	CGCTACAACCGTGCCCGTGGCCTCACCTTTGCCATGCTGGCCTACTTCATCACCTGGGTCTCCTTTGTGCCCCTCCTGGCCAATGTGCAGGTGGTCCTCAGGCCCGCCGTGCAGATGGGCGCCCTCC
1	missense_variant	1,341,803	C	T	null	null	null	0.062192	missense_variant	missense_variant	false	9,471	152,286	0	ENSG00000107404	1,750	ENSG00000107404	missense_variant	111	missense_variant	CTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGG	CGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGG	TGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGG
1	non_coding_transcript_exon_variant	1,355,201	G	A	null	null	null	0.070936	non_coding_transcript_exon_variant	non_coding_transcript_exon_variant	false	10,717	151,080	42	ENSG00000162576	3,341	ENSG00000162576	non_coding_transcript_exon_variant	356	non_coding_transcript_exon_variant	CAGGTCAGAAGCGCGGGTGCGCCGCGCGCCACCGCCAGCACCTCCTTCTCGCCGTCCCAGTAGGCGGGGGTGGCCGGGGCTGCGGAGGGGGCGCGGTCAGCGGCGCGCGGGCCGGGGCGGCGGTCGA	GGGTCGAGGGGCGGGAGCTGGGGGGCGGGGGGGAAGCACTCACGGCCGTCGGTGACCTCCAGGCGGACGGCCAGGCTCTCGTAGAGGTGGCAGTAGTGATGGTGCAGGTTGCAGGTGTACAGCCCCG	AGGTCGAGGGGCGGGAGCTGGGGGGCGGGGGGGAAGCACTCACGGCCGTCGGTGACCTCCAGGCGGACGGCCAGGCTCTCGTAGAGGTGGCAGTAGTGATGGTGCAGGTTGCAGGTGTACAGCCCCG
1	splice_donor_region_variant	1,388,944	G	A	null	null	null	0.589507	splice_donor_region_variant	splice_donor_region_variant	false	89,466	151,764	878	ENSG00000221978	10,011	ENSG00000221978	splicing	321	splicing	TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCAACTGAGATCAGGAGTTCAAGACCAGTCTGACCAAAATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTCAGTGTGGTGGC	GGGTACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGACAGCGCCATTGCACTCCAGCCTGGGTAACAAGACAGAAACTCT	AGGTACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGACAGCGCCATTGCACTCCAGCCTGGGTAACAAGACAGAAACTCT
1	missense_variant	1,419,135	C	G	null	null	null	0.282739	missense_variant	missense_variant	false	43,017	152,144	0	ENSG00000235098	1,955	ENSG00000235098	missense_variant	124	missense_variant	GCCTCTTCCCTGATGTCCCCTCCAGGCAGGCAGCCTCAGCCAGAGAGCCTGGAAATCACTGGGGCGGTGGAGCCTGGAGCCTGCTGTCTGGCTCAGCCCGTGGACTCTATGCCCTCACACTCCTTCT	CCCCCCCTCCAAGTTCAGGCAGCGCCTGGGGCAGGTCCCCCTCAGGCATCTGGGCCACCTCGGCCCACTGCGTCCGCAGAGTGGGGCTGGCCCCTCGGCTCAGCAGAAGCCCCACGGTAGGCCCATG	GCCCCCCTCCAAGTTCAGGCAGCGCCTGGGGCAGGTCCCCCTCAGGCATCTGGGCCACCTCGGCCCACTGCGTCCGCAGAGTGGGGCTGGCCCCTCGGCTCAGCAGAAGCCCCACGGTAGGCCCATG
1	missense_variant	1,420,203	C	A	null	null	null	0.204664	missense_variant	missense_variant	false	29,987	146,518	0	ENSG00000235098	887	ENSG00000235098	missense_variant	256	missense_variant	CAGACCCAGCGCTGTGGCCCCCGCGCCATCCCGGGCGTCCACCCGCGCCCCGCGCGCCAGGAGGAAGCGCAGCGCCGCCCCGCGCCCCGCAGCGGCAGCCACGAGCAGGGCGCCGTCCAGGCCCGCG	CCGCCGGCCGCCAGCAGCTCCAGCACCGCCAGCCGCCCGCCCGCGGCCGCCCAGTGCGCCGCCGTCCAGCCGCGCGCGTCCTCCGCCTCCGCTGCCGCGGGTCCCGGGCCCGGAGCCTCCAGCAGGC	ACGCCGGCCGCCAGCAGCTCCAGCACCGCCAGCCGCCCGCCCGCGGCCGCCCAGTGCGCCGCCGTCCAGCCGCGCGCGTCCTCCGCCTCCGCTGCCGCGGGTCCCGGGCCCGGAGCCTCCAGCAGGC
1	5_prime_UTR_variant	1,421,170	A	G	null	null	null	0.242814	5_prime_UTR_variant	5_prime_UTR_variant	false	36,964	152,232	0	ENSG00000235098	78	ENSG00000235098	5_prime_UTR_variant	291	5_prime_UTR_variant	CCTCTGGCCTGCCCCCAGCCGTGTCCCAGGCCAACTGGAGCCCCCCATTCCAGTTACCACTTAGCCTTCAGAGGGGCTTGGCTCTGTTACCCAAGGGAGCTGGCTCAGGAGCTTTCTGCTCTGGCTG	AGGGTCCTCTGTAGACGGGTTCTGGCCGAGGCTCAGCCTGGTGACCCTCTTCACAAAATCCCTTCTGCAGGCTTTGGGGTGGAGTGTCTGCTGCTGAAAAGCTGAATGGTGGCAGCTTCAGCCTTGC	GGGGTCCTCTGTAGACGGGTTCTGGCCGAGGCTCAGCCTGGTGACCCTCTTCACAAAATCCCTTCTGCAGGCTTTGGGGTGGAGTGTCTGCTGCTGAAAAGCTGAATGGTGGCAGCTTCAGCCTTGC
1	tss_proximal	1,425,822	C	G	null	null	null	0.096906	upstream_gene_variant	PLS	false	14,735	152,054	48	ENSG00000205116	48	ENSG00000205116	tss_proximal	274	tss_proximal	AGCGGGGCTGGGGCTGGGACAGGGGGTGGGGGGCTGGCCTCCAGGTGGCAGCTACTGATGGGGCAGCTACCGGAGTCAAGCCCTTTGAAATGAGGTCTTTGTGTGGGGGAGCTGCAGCCCCGCCCGG	CACAGGGAGGGAGGCGGCCCCGGTGGGAAGGGCCCTGCAAGGCCTGCCCAGAGCACCAGGAGCTGGCTGGGGCTGGAGACTGGCGCTGCTGGAGCTGCAGCTGCCTGGCAGAGGGGAAACTGAGGTG	GACAGGGAGGGAGGCGGCCCCGGTGGGAAGGGCCCTGCAAGGCCTGCCCAGAGCACCAGGAGCTGGCTGGGGCTGGAGACTGGCGCTGCTGGAGCTGCAGCTGCCTGGCAGAGGGGAAACTGAGGTG
1	missense_variant	1,426,261	C	T	null	null	null	0.448022	missense_variant	missense_variant	false	67,999	151,776	0	ENSG00000205116	389	ENSG00000205116	missense_variant	5	missense_variant	GAGCAGGGGAGGGAGACGGAGGAGGAGGAGGGGGGAGGTGGTGCTTCCGACACAGCGCCCATGCTGCCCCGGGGACCTCCCGACCACCAGGCCTCAGCCCTGACGTGCCCAGGGTGGTCGGGGCCCC	CGCTGCTGCCCGGCCGGCTGCTGGCCGGGCTCCTGCTGCACCTCCTGCTGCCCGCCGCAGCCTTCCTGCTGGTGCTCCTGCCCGCGGCCGCCGTCGTCTACCTGGGATTCCTGTGCCACTCGAGGGT	TGCTGCTGCCCGGCCGGCTGCTGGCCGGGCTCCTGCTGCACCTCCTGCTGCCCGCCGCAGCCTTCCTGCTGGTGCTCCTGCCCGCGGCCGCCGTCGTCTACCTGGGATTCCTGTGCCACTCGAGGGT
1	missense_variant	1,452,384	G	A	null	null	null	0.190893	missense_variant	missense_variant	false	29,036	152,106	0	ENSG00000215915	2,469	ENSG00000215915	missense_variant	10	missense_variant	GTCCTGGCAGGACCAGGCTGCTGTGTCAAGGCCTCACCCTCAACCTGTTCTTGCTACGTGGCGTGGGTCTTTGTTTCCCTCCTGGTCACACCACTGCTTTCCCCACAGGGCGGCTGGCACCTTGTTT	GGGGAAGGATTCCGTGCCTTTGTGACAGACCGGGACAAAGTGACAGCCACGGTAAACATACTCATAAAACAGGGCTGGCAGGTGGCTGAGGGGCAGCATGTGGGGGCCTCCTGGAGCCACAGGTCCT	AGGGAAGGATTCCGTGCCTTTGTGACAGACCGGGACAAAGTGACAGCCACGGTAAACATACTCATAAAACAGGGCTGGCAGGTGGCTGAGGGGCAGCATGTGGGGGCCTCCTGGAGCCACAGGTCCT
1	exon_proximal	1,454,315	C	T	null	null	null	0.423585	intron_variant	CA_flank	false	64,207	151,580	29	ENSG00000215915	4,400	ENSG00000215915	splicing	335	splicing	GGATTCGGGGCTGGGAATTCGGGTTCCTGTGGGGCCAGCACACGGCCCTGTGCTTCTCCCTCAGGCGGAGAGAGGGTGGGGGCAGCCCCGTGCGTCTCCTGCTCTAGGAGGGAGGGACGGTGGGGGC	CGGTGCGCCAGTGCGGTGTCTCTGCTGCAGGTGGCTGGGCTGACGCTGCTGGCTGTCGGGGTCTACTCAGCCAAGAATGCGACAGCCGTCACTGGCCGCTACATCGAGGCTCGGCTGGGGAAGCCGT	TGGTGCGCCAGTGCGGTGTCTCTGCTGCAGGTGGCTGGGCTGACGCTGCTGGCTGTCGGGGTCTACTCAGCCAAGAATGCGACAGCCGTCACTGGCCGCTACATCGAGGCTCGGCTGGGGAAGCCGT
1	splice_region_variant	1,455,924	T	C	null	null	null	0.310022	splice_region_variant	splice_region_variant	false	46,902	151,286	7	ENSG00000215915	6,009	ENSG00000215915	splicing	352	splicing	CTGGAAGCACGGGTGCGCGACATCGCCATAATGACAAGGAACATCAAGAAGAACCGGGGCCTGTACAGGCACATCCTGCTGTACGGGCCACCAGGCACCGGGAAGACGCTGTTTGCCAAGGTGAGAG	TGCCTAGCTGAACAGGTGGGCCAGGGGCCGCTGGGGTCTCACCTGCCTGCAGGTGTCTGGGGGGCTCAGCTGCCTGGGGAATGGACCCCCCTTAGGCCTTTGCCCACCCTCGTGTAGGCTCAGGGTG	CGCCTAGCTGAACAGGTGGGCCAGGGGCCGCTGGGGTCTCACCTGCCTGCAGGTGTCTGGGGGGCTCAGCTGCCTGGGGAATGGACCCCCCTTAGGCCTTTGCCCACCCTCGTGTAGGCTCAGGGTG
1	missense_variant	1,486,611	G	A	null	null	null	0.249767	missense_variant	missense_variant	false	36,436	145,880	0	ENSG00000160072	14,826	ENSG00000160072	missense_variant	140	missense_variant	GCAGGCTTTGCAGAGGCAGAGGGAACATCTGTTCTGTCTCCCCTCACTCTTCTTGTCCAGAAACTCGCCCTGCACTCAGGCATGGACTACGCCATCATGACAGGCGGGGACGTGGCCCCCATGGGGC	GGGAAGGCGTGACCGCCATGCACAAGCTCTTTGACTGGGCCAATACCAGCCGGCGCGGGTGAGACGTCCCCACAGCATGCACCAGGCCCTTGGCTGCGGCCCAGCAGGCTGCCTTCTGGGAAGGGGG	AGGAAGGCGTGACCGCCATGCACAAGCTCTTTGACTGGGCCAATACCAGCCGGCGCGGGTGAGACGTCCCCACAGCATGCACCAGGCCCTTGGCTGCGGCCCAGCAGGCTGCCTTCTGGGAAGGGGG
1	missense_variant	1,495,605	C	T	null	null	null	0.060973	missense_variant	missense_variant	false	9,271	152,050	0	ENSG00000160072	16,556	ENSG00000197785	missense_variant	176	missense_variant	TCACTAGGCCACGGCATATGCCTCCAAGGACGGGGTCCTCACTGAGGCCATGATGGACGCCTGTGTGCAAGATGCTGTCCAGCAGTACCGACAGAAGATGCGCTGGCTGAAGGCGGAGGGGCCTGGG	CGCGGGGTCGAGCACCCCCTATCCGGAGTCCAAGGCGAGACCCTCACCTCATGGAGCCTGGCCACGGACCCCTCCTACCCCTGCCTTGCCGGCCCCTGCACATTTAGGATATGCTCCTGGATGGGGA	TGCGGGGTCGAGCACCCCCTATCCGGAGTCCAAGGCGAGACCCTCACCTCATGGAGCCTGGCCACGGACCCCTCCTACCCCTGCCTTGCCGGCCCCTGCACATTTAGGATATGCTCCTGGATGGGGA
1	missense_variant	1,512,312	G	A	null	null	null	0.084366	missense_variant	missense_variant	false	12,784	151,530	0	ENSG00000197785	136	ENSG00000197785	missense_variant	198	missense_variant	GGCGCGTGGAGGCTGCTCCCAGCCGCGCGCGAGTCAGACTCGGGTGGGGGTCCCGGCGGCGGTAGCGGCGGCGGCGGTGCGAGCATGTCGTGGCTCTTCGGCATTAACAAGGGCCCCAAGGGTGAAG	GCGCGGGGCCGCCGCCGCCTTTGCCGCCCGCGCAGCCCGGGGCCGAGGGCGGCGGGGACCGCGGGTTGGGAGACCGGCCGGCGCCCAAGGACAAATGGAGCAACTTCGACCCCACCGGCCTGGAGCG	ACGCGGGGCCGCCGCCGCCTTTGCCGCCCGCGCAGCCCGGGGCCGAGGGCGGCGGGGACCGCGGGTTGGGAGACCGGCCGGCGCCCAAGGACAAATGGAGCAACTTCGACCCCACCGGCCTGGAGCG
1	missense_variant	1,517,171	G	A	null	null	null	0.071944	missense_variant	missense_variant	false	10,685	148,518	0	ENSG00000197785	4,640	ENSG00000197785	missense_variant	4	missense_variant	TCTGCCCTCAGTGCAGTCCAAAAGGGGGTGTCCGGCCTCCCTCCCGGGGGGCCTTCGCGGGCTTCTGCTGGTGCTTCTGTGCCTGTGGGTCTGGATTCCTCCAGGGCCTGATCCTGGGTGCAGATGC	GGCTGGAAGCCCTGAGCCTGCTGCACACACTAGTCTGGGCATGGAGTCTCTGCCGTGCCGGAGCCGTGCAGACACAGGAGCGGCTGTCAGGCAGTGCCAGCCCTGAGCAAGTGCCAGCTGGTGAGTG	AGCTGGAAGCCCTGAGCCTGCTGCACACACTAGTCTGGGCATGGAGTCTCTGCCGTGCCGGAGCCGTGCAGACACAGGAGCGGCTGTCAGGCAGTGCCAGCCCTGAGCAAGTGCCAGCTGGTGAGTG
1	missense_variant	1,517,186	G	A	null	null	null	0.060468	missense_variant	missense_variant	false	8,788	145,332	0	ENSG00000197785	4,655	ENSG00000197785	missense_variant	4	missense_variant	GTCCAAAAGGGGGTGTCCGGCCTCCCTCCCGGGGGGCCTTCGCGGGCTTCTGCTGGTGCTTCTGTGCCTGTGGGTCTGGATTCCTCCAGGGCCTGATCCTGGGTGCAGATGCGGCTGGAAGCCCTGA	GCCTGCTGCACACACTAGTCTGGGCATGGAGTCTCTGCCGTGCCGGAGCCGTGCAGACACAGGAGCGGCTGTCAGGCAGTGCCAGCCCTGAGCAAGTGCCAGCTGGTGAGTGCTGTGCTCTGCAGGA	ACCTGCTGCACACACTAGTCTGGGCATGGAGTCTCTGCCGTGCCGGAGCCGTGCAGACACAGGAGCGGCTGTCAGGCAGTGCCAGCCCTGAGCAAGTGCCAGCTGGTGAGTGCTGTGCTCTGCAGGA
1	splice_donor_region_variant	1,522,905	A	G	null	null	null	0.225545	splice_donor_region_variant	splice_donor_region_variant	false	33,566	148,822	5	ENSG00000197785	1,049	ENSG00000197785	splicing	322	splicing	ACTCAGCCAAGAATGCCACGCTTGTCGCCGGCCGCTTCATCGAGGCTCGGCTGGGGAAGCCGTCCCTAGTGAGGGAGACGTCCCGCATCACGGTGCTTGAGGCGCTGCGGCACCCCATCCAGGTAGC	AGCGCAGGCCTGGCCCTCCCTGAGTGCAGTTCCTGGCTGAGTCCCTTCTGCCCCACGAGCACAGCCCACGCACACCCTCCCGTCCCTTCCCTTTCCCCGGATAACGGGCACCCGCACACTGCTTCAC	GGCGCAGGCCTGGCCCTCCCTGAGTGCAGTTCCTGGCTGAGTCCCTTCTGCCCCACGAGCACAGCCCACGCACACCCTCCCGTCCCTTCCCTTTCCCCGGATAACGGGCACCCGCACACTGCTTCAC
1	missense_variant	1,525,242	T	G	637,018	C5394137:Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	clinvar	0	missense_variant	missense_variant	true	null	null	0	ENSG00000197785	1,286	ENSG00000197785	missense_variant	231	missense_variant	CTGATGGGGCAGAGCCTGACCCCGTGGGGATCTGCCTGCTTGGCCTGCTCCTGCCGCGGCCGGACGCTGCTGTGGGCTGCTCCTGGTGTCACTCTCGCCCTGCTTGGCCTCCCTCTCGTTCACAGCC	TCCTGCTCTTTGTGGATGAAGCGGACGCCTTCCTTCGGAAGCGAGCCACCGTGAGTGTCACTAAGCCTCTGGCCACAATGGGGTGGTGGGGTGGGCACAGCCGTCTGCCTGGGCCAGGCTGCAGCCC	GCCTGCTCTTTGTGGATGAAGCGGACGCCTTCCTTCGGAAGCGAGCCACCGTGAGTGTCACTAAGCCTCTGGCCACAATGGGGTGGTGGGGTGGGCACAGCCGTCTGCCTGGGCCAGGCTGCAGCCC
1	tss_proximal	1,615,869	C	T	null	null	null	0.625189	intron_variant	PLS	false	94,276	150,796	35	ENSG00000197530	35	ENSG00000197530	tss_proximal	267	tss_proximal	CAGCCCCGGGCTGGACTCGGCGTAGGGTCCGCACGGGATGGGCTGGGGCTGCGCGCGCAGCGCCGCCGCGGGGCCTCCTGGGAGTTGTGGTCCGGCCACCCGCGCGGGACTCCAGCTCCCGGCAGGC	CTCGCGCGGCCCGGGGCCAGCGGCGCTGGGGTCGGCGCTGGGGTCGTCGTCCGGGCCGGGTGGGCTGCGGCGCGCGGCAGGCGCTCTGGCCTGGCCTGGCCGCCGCTGAGCAGTCGGGGCCGGTGGG	TTCGCGCGGCCCGGGGCCAGCGGCGCTGGGGTCGGCGCTGGGGTCGTCGTCCGGGCCGGGTGGGCTGCGGCGCGCGGCAGGCGCTCTGGCCTGGCCTGGCCGCCGCTGAGCAGTCGGGGCCGGTGGG
1	missense_variant	1,616,547	T	C	null	null	null	0.625015	missense_variant	missense_variant	false	95,076	152,118	0	ENSG00000197530	236	ENSG00000197530	missense_variant	131	missense_variant	GCCGGCGGGCAGCCCCGGGGGCAGACAGGCGACCGAGCCGCGGGTCGAGGTGCTAACTGTGCATCTTGGCATCTCCCCTCGGCCACAGGGTTGGAAGCCCAGCGAGGCTAGAGGCCAGTCCCAAAGT	TTCCAGGCATCAGGGCTGCAGCCCAGGAGCCTCAAGGCGGCCCGGCGGGCGACTGGACGGCCGGACAGGTGAGCTCTTGATCGTCCGCGGCCTGATAGTTTGCACTTGGCTCTCCCACTTTGGGGCT	CTCCAGGCATCAGGGCTGCAGCCCAGGAGCCTCAAGGCGGCCCGGCGGGCGACTGGACGGCCGGACAGGTGAGCTCTTGATCGTCCGCGGCCTGATAGTTTGCACTTGGCTCTCCCACTTTGGGGCT
1	missense_variant	1,640,423	C	T	null	null	null	0.074895	missense_variant	missense_variant	false	9,460	126,310	0	ENSG00000248333	7,219	ENSG00000189409	missense_variant	128	missense_variant	TTGGGCAGCTCCTGCTTGAGCTCGATGGGCGACAGGGCAGGGGAGTCGGGCACATAGTCGCCCTCTGTCAGGGCGCTGCTCTGCGGCGTTCCCTCACCCACTTCTTCCTCTGCTTCTTCACTCTCCC	CGGAATCTCGGTCGAACCGTGACTCTGGAACTGGAAAAGTTGAACCTAATTACGAAGCTAGGAGTAAGCAAGGATCATGAACCTCCTCCTGCCCCGGGGGCATCAAGCGCGTGGCAGGGCTGCCCCG	TGGAATCTCGGTCGAACCGTGACTCTGGAACTGGAAAAGTTGAACCTAATTACGAAGCTAGGAGTAAGCAAGGATCATGAACCTCCTCCTGCCCCGGGGGCATCAAGCGCGTGGCAGGGCTGCCCCG
1	missense_variant	1,641,819	C	T	null	null	null	0.279245	missense_variant	missense_variant	false	21,002	75,210	0	ENSG00000248333	8,615	ENSG00000189409	missense_variant	209	missense_variant	TGCTGCCGGTCTCCTCCTCCTCCTCTTCCTCTTCCTCCTCCTCCTCCTCTGATTCTTCACTGGTGCTCCCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCTTCCTCAGAACCTGAGCCTGATTC	CGCTGTAGAAAGACAGCAGAGCAGAGGGTGAACCTGGGCCTTCCTGGGCAGCAGTGGTCAAGGCCTTGGCCAGGCGGTTCCAGGTACCTGACGAGGACTCGGCCGAGCTGGTCTTCCTCTCGCTGTC	TGCTGTAGAAAGACAGCAGAGCAGAGGGTGAACCTGGGCCTTCCTGGGCAGCAGTGGTCAAGGCCTTGGCCAGGCGGTTCCAGGTACCTGACGAGGACTCGGCCGAGCTGGTCTTCCTCTCGCTGTC
1	missense_variant	1,668,373	C	T	null	null	null	0.547181	missense_variant	missense_variant	false	76,486	139,782	0	ENSG00000189339	9,360	ENSG00000248333	missense_variant	43	missense_variant	CCTTATAAAAATACCTAGATTTCTGGTCTCCTTTGTAAACAACCTGGACACACTCAACTCTTGGGAAGTTCCTCTGCTCACCTGAAAGTCACCGGGGAGATTTTCCCCATGAGGGCGTACGCCGTGA	CGCTCTGAAGGTGGAACAGGACTCCGTCTGTCAGAAGCAGCAGCACCACGTCCTGGTTGTAGCTGAAGCTCTTCCCACTCCTCCCGATCACTGGGACGTCCTATGTGGCAAACAAAAGGGTACTCTA	TGCTCTGAAGGTGGAACAGGACTCCGTCTGTCAGAAGCAGCAGCACCACGTCCTGGTTGTAGCTGAAGCTCTTCCCACTCCTCCCGATCACTGGGACGTCCTATGTGGCAAACAAAAGGGTACTCTA
1	missense_variant	1,668,449	A	G	null	null	null	0.790466	missense_variant	missense_variant	false	102,329	129,454	0	ENSG00000189339	9,436	ENSG00000248333	missense_variant	97	missense_variant	CTCACCTGAAAGTCACCGGGGAGATTTTCCCCATGAGGGCGTACGCCGTGACGCTCTGAAGGTGGAACAGGACTCCGTCTGTCAGAAGCAGCAGCACCACGTCCTGGTTGTAGCTGAAGCTCTTCCC	ACTCCTCCCGATCACTGGGACGTCCTATGTGGCAAACAAAAGGGTACTCTATCGGTTTCCATTTTCCATTTACTAATCATCCACCAAAAACGCCCAGCGCCACTCCTGCCCAGAAACTGGGTAAAGC	GCTCCTCCCGATCACTGGGACGTCCTATGTGGCAAACAAAAGGGTACTCTATCGGTTTCCATTTTCCATTTACTAATCATCCACCAAAAACGCCCAGCGCCACTCCTGCCCAGAAACTGGGTAAAGC
1	tss_proximal	1,692,957	T	G	null	null	null	0.753679	upstream_gene_variant	PLS_flank	false	78,672	104,384	161	ENSG00000189339	161	ENSG00000189339	tss_proximal	275	tss_proximal	TCAGCGTCCCCTCCCCCGTTGGTTCTGCTCGGGCCCTTCCACTGCAGGCCGACGGGGGTGGAAACACGCAGTTTTTTTTTTTTTTTTAAGGTCTAGGGTAACACGGGGCTTTTAAGTGCCTCTCCGC	TGCCGCCTGGTGGTCCAGCCCGGGCCGTTGCAGTGCAGCCACACGGGGAGGGACACGGCGCGCCGAGTGCTCCGGGCGGCCGCACGTTGGTTCCGCCCGGGCCGTTCCACTGCAGGCAGAGGGAGAG	GGCCGCCTGGTGGTCCAGCCCGGGCCGTTGCAGTGCAGCCACACGGGGAGGGACACGGCGCGCCGAGTGCTCCGGGCGGCCGCACGTTGGTTCCGCCCGGGCCGTTCCACTGCAGGCAGAGGGAGAG
1	missense_variant	1,707,486	C	T	null	null	null	0.168666	missense_variant	missense_variant	false	24,976	148,080	0	ENSG00000008128	14,690	ENSG00000189339	missense_variant	120	missense_variant	ACTCCGACTGCCAATGCGGACAGCGGCCCGGGGCGAGGGGAGGGCCTGACCTGCAGGGCCGGCAGGTACTTGGGCAGCTCCTGCTTGAGCTCGATGGGCAACAGGGCAGGGGAGTCGGGCACATAGT	CGCCCTCTGTCAGGGCGCTGCTCTGCGGCGTTCCCTCACCCACTTCTTCCTCTGCTTCTTCACTCTCCCCGGAATCTCGGTCGAACCGTGACTCTGGAACTGGAAAAGTTGAACCTAATTACGAAGC	TGCCCTCTGTCAGGGCGCTGCTCTGCGGCGTTCCCTCACCCACTTCTTCCTCTGCTTCTTCACTCTCCCCGGAATCTCGGTCGAACCGTGACTCTGGAACTGGAAAAGTTGAACCTAATTACGAAGC
1	missense_variant	1,707,555	C	T	null	null	null	0.25282	missense_variant	missense_variant	false	33,307	131,742	0	ENSG00000008128	14,759	ENSG00000189339	missense_variant	140	missense_variant	TTGGGCAGCTCCTGCTTGAGCTCGATGGGCAACAGGGCAGGGGAGTCGGGCACATAGTCGCCCTCTGTCAGGGCGCTGCTCTGCGGCGTTCCCTCACCCACTTCTTCCTCTGCTTCTTCACTCTCCC	CGGAATCTCGGTCGAACCGTGACTCTGGAACTGGAAAAGTTGAACCTAATTACGAAGCTAGGAGTAAGTAAGGATCATGAACCTCCTCCTGCCCCGGGGGCATCAAGCGCGTGGCAGGGCTGCCCCG	TGGAATCTCGGTCGAACCGTGACTCTGGAACTGGAAAAGTTGAACCTAATTACGAAGCTAGGAGTAAGTAAGGATCATGAACCTCCTCCTGCCCCGGGGGCATCAAGCGCGTGGCAGGGCTGCCCCG
1	splice_region_variant	1,708,173	T	C	null	null	null	0.066577	splice_region_variant	splice_region_variant	false	9,859	148,084	6	ENSG00000008128	14,657	ENSG00000008128	splicing	349	splicing	GGAGCGGCCAACGAATCAGGCGGCCTCCCAGACCCTGGCGTGCCCCACGCCGCGCAGGACCGGCTGTCTTAGGAGAGGGCTGCTGCACTCGGAGACAGACAAGGAGGGGGCTCTGTCTCCAGGGAGG	TTCTTACCAACCAAGAGGTGGTTTTCATTTTCTCGTTCTTCATCTTCACTCATTTCTTCCTCACTTACTTCTTCTGCAAGAGAAAGGAGGCGTCTGCTCAGACCAGCACCGGGGCGAGTGCTGCCAC	CTCTTACCAACCAAGAGGTGGTTTTCATTTTCTCGTTCTTCATCTTCACTCATTTCTTCCTCACTTACTTCTTCTGCAAGAGAAAGGAGGCGTCTGCTCAGACCAGCACCGGGGCGAGTGCTGCCAC
1	splice_region_variant	1,708,248	G	A	null	null	null	0.15397	splice_region_variant	splice_region_variant	false	21,986	142,794	2	ENSG00000008128	14,582	ENSG00000008128	splicing	349	splicing	AGGGCTGCTGCACTCGGAGACAGACAAGGAGGGGGCTCTGTCTCCAGGGAGGTTCTTACCAACCAAGAGGTGGTTTTCATTTTCTCGTTCTTCATCTTCACTCATTTCTTCCTCACTTACTTCTTCT	GCAAGAGAAAGGAGGCGTCTGCTCAGACCAGCACCGGGGCGAGTGCTGCCACAGGCAGGATGCGGGCTCCGCTTCAGCTAAGCAACAAGTGTTCCCAAGAATGGATATGGAGGCTGGGCGCGGTGGC	ACAAGAGAAAGGAGGCGTCTGCTCAGACCAGCACCGGGGCGAGTGCTGCCACAGGCAGGATGCGGGCTCCGCTTCAGCTAAGCAACAAGTGTTCCCAAGAATGGATATGGAGGCTGGGCGCGGTGGC
1	missense_variant	1,719,406	G	A	null	null	null	0.805802	missense_variant	missense_variant	false	121,278	150,506	0	ENSG00000008128	3,424	ENSG00000008128	missense_variant	245	missense_variant	AAGAAACCACACTTGAACATGATGTCAAAGAAAGTAAATGCTTCTGTACCCCCTTCTGCTGAATGGCTATGATGCCTACATTTTTCTTTTCTCTTTTCATCTTTTCTGTGATGAACTTTTTCTTTCC	GAGACATTTGCTGGGGTGGTTTGATGGCCAAAGAATCATCTTCTTCTCCTCTGAAATAAAACACAACAGCACTGCGTCATGCTTGAGAAAGTGCGGAAAAGCATCAGGCTATTATGAGGTTTTTTCA	AAGACATTTGCTGGGGTGGTTTGATGGCCAAAGAATCATCTTCTTCTCCTCTGAAATAAAACACAACAGCACTGCGTCATGCTTGAGAAAGTGCGGAAAAGCATCAGGCTATTATGAGGTTTTTTCA
1	missense_variant	1,754,601	G	T	null	null	null	0.305571	missense_variant	missense_variant	false	46,448	152,004	0	ENSG00000008130	2,666	ENSG00000008130	missense_variant	72	missense_variant	GGTCCTCATCCCTGGGACCGAAGTCGCCCCACCCTGGGCCCCTCACCGAGGCCGAGGCGCCTCCACTCACCTGGTACTGCATGGCCTGCTTCCCGACATCCATGTCCAGGCCTGCAGCCTGCGAGCC	GTTCTCACCCAGCCCATTGTGCACGGCCGTCTTCTTCCCCCGGAGCTCCTTCACCACCCTGACCTTCAGCCGACTCCGGAGAACAACAGCTGCGTTCCCTGAGGTCCAGCAGGAGTCAGAGGGCATG	TTTCTCACCCAGCCCATTGTGCACGGCCGTCTTCTTCCCCCGGAGCTCCTTCACCACCCTGACCTTCAGCCGACTCCGGAGAACAACAGCTGCGTTCCCTGAGGTCCAGCAGGAGTCAGAGGGCATG
1	splice_region_variant	1,765,220	A	G	null	null	null	0.823066	splice_region_variant	splice_region_variant	false	125,343	152,288	7	ENSG00000008130	6,644	ENSG00000008130	splicing	338	splicing	CTGGGCAAGGACCCAGCCTCACCTTCCGGATGCATCGACGCAGACTACTCAGGAGAATTCTTCATAATCGTTTTAAGAAAGAATATTATGAAATCAGACGAGAAAAAAAAGAGGAACCATCCCTCCC	AGTTGTACCTGAACTCCTTGGTGCTCCCCAGGGCGGGCGAGGCAGACAGGCTGCGAGACTTGGCCCGGCCCCGGATGGGGTGGTTGTAACTCCAGGTCTCATCGCCGTGGCAGGCCGAGCAGCAGTA	GGTTGTACCTGAACTCCTTGGTGCTCCCCAGGGCGGGCGAGGCAGACAGGCTGCGAGACTTGGCCCGGCCCCGGATGGGGTGGTTGTAACTCCAGGTCTCATCGCCGTGGCAGGCCGAGCAGCAGTA
1	missense_variant	1,804,508	C	T	1,315,581	C4310774:Intellectual disability, autosomal dominant 42	clinvar	0	missense_variant	missense_variant	true	null	null	0	ENSG00000078369	24,438	ENSG00000008130	missense_variant	40	missense_variant	GCTTGTGTCACTTGAAGCTTATGAACAAGGACAGGTACCTGTGTGTCCTGCCAGCTCACGACTCACGCGCACGTTCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCG	CAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACT	TAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACT
1	missense_variant	1,804,562	C	A	995,962	C4310774:Intellectual disability, autosomal dominant 42	clinvar	0	missense_variant	missense_variant	true	null	null	0	ENSG00000078369	24,492	ENSG00000008130	missense_variant	182	missense_variant	CTCACGACTCACGCGCACGTTCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAG	CGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAA	AGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAA
1	exon_proximal	1,806,456	G	A	null	null	null	0.070942	intron_variant	dELS	false	10,800	152,236	18	ENSG00000078369	25,828	ENSG00000078369	splicing	334	splicing	ACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAG	GGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACAC	AGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACAC
1	exon_proximal	1,806,461	C	T	null	null	null	0.071744	intron_variant	dELS	false	10,924	152,264	13	ENSG00000078369	25,823	ENSG00000078369	splicing	334	splicing	CGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAAT	CCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAA	TCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAA
1	missense_variant	1,806,503	A	T	224,715	C4310774:Intellectual disability, autosomal dominant 42\|C0023449:Acute lymphoid leukemia	clinvar	0.000007	missense_variant	missense_variant	true	null	null	0	ENSG00000078369	25,781	ENSG00000078369	missense_variant	147	missense_variant	TCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATG	ATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTT	TTAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTT
1	5_prime_UTR_variant	1,890,472	C	G	null	null	null	0.077158	5_prime_UTR_variant	5_prime_UTR_variant	false	11,483	148,824	70	ENSG00000078369	70	ENSG00000078369	5_prime_UTR_variant	292	5_prime_UTR_variant	GCCCGGCCCTCAAAGTCACCCCGATAGGCGGCCCGCGCGGGGGCTCCGGCCGCCGACACCGCCCCGCCTGCAGGCCCGCCCGGCCTTTGTTCTCGCGCCGCGGGCCCGAGAGCCACGTCCGGCTCCC	CACGCAGGGCCCGGCCCCGCCCGACCCGCGCCCCCGGGGCCCCGGCCGCCGCCACGGGAAGCGCCCGCGGCGCACACAACCCCGCACCCCGGTGCCGAAACTCGGCCCCCAGCCTTGGGCCTGGGAC	GACGCAGGGCCCGGCCCCGCCCGACCCGCGCCCCCGGGGCCCCGGCCGCCGCCACGGGAAGCGCCCGCGGCGCACACAACCCCGCACCCCGGTGCCGAAACTCGGCCCCCAGCCTTGGGCCTGGGAC
1	missense_variant	1,916,540	T	C	null	null	null	0.145954	missense_variant	missense_variant	false	22,091	151,356	0	ENSG00000169885	1,279	ENSG00000169885	missense_variant	231	missense_variant	GTCAGGCCGGTGCGGGTGTCCCCTGCAGACAGAGCGCCTGTCGGCTGAGCAGATCAAGGAGTACAAGGGAGTCTTTGAGATGTTCGACGAAGAGGGCAACGGGGAGGTGAAGACGGGGGAGCTGGAG	TGGCTCATGAGCCTGCTGGGTATCAACCCCACCAAGAGTGAGCTGGCCTCAATGGCCAAGGATGTGGACAGAGACAGTGAGCTCATGGCTGGAGTGGGGTGGGCAGCCTCGGGGGGGCCCTGGGTCA	CGGCTCATGAGCCTGCTGGGTATCAACCCCACCAAGAGTGAGCTGGCCTCAATGGCCAAGGATGTGGACAGAGACAGTGAGCTCATGGCTGGAGTGGGGTGGGCAGCCTCGGGGGGGCCCTGGGTCA
1	missense_variant	1,918,090	A	G	null	null	null	0.387298	missense_variant	missense_variant	false	58,874	152,012	0	ENSG00000178821	706	ENSG00000178821	missense_variant	257	missense_variant	GGCCCCAAGGAGAGGGCTGGGTTTCTGGGAGAGTGCTGGTCCTTCCTCTCTGGGCTTGGCCATCTTGACAGCTTCATCGTAGGAGGGTGGAGGCTCCGGGGTGTACAGGCTGTAGGCAGGAGGAGCC	ATGGAGTCCAGGTCCAGCTCCCCAAAGGGCAGGGGCAACCGCATGCCCAGTGGGTACTGCACGGAGCTGTAGGCTGCAGGGAACCAGAGTGGGTTCGTGGAGGCGGGCTTGGCATTTACCCCCGCCA	GTGGAGTCCAGGTCCAGCTCCCCAAAGGGCAGGGGCAACCGCATGCCCAGTGGGTACTGCACGGAGCTGTAGGCTGCAGGGAACCAGAGTGGGTTCGTGGAGGCGGGCTTGGCATTTACCCCCGCCA
1	missense_variant	1,918,091	T	C	null	null	null	0.143142	missense_variant	missense_variant	false	21,767	152,066	0	ENSG00000178821	705	ENSG00000178821	missense_variant	257	missense_variant	GCCCCAAGGAGAGGGCTGGGTTTCTGGGAGAGTGCTGGTCCTTCCTCTCTGGGCTTGGCCATCTTGACAGCTTCATCGTAGGAGGGTGGAGGCTCCGGGGTGTACAGGCTGTAGGCAGGAGGAGCCA	TGGAGTCCAGGTCCAGCTCCCCAAAGGGCAGGGGCAACCGCATGCCCAGTGGGTACTGCACGGAGCTGTAGGCTGCAGGGAACCAGAGTGGGTTCGTGGAGGCGGGCTTGGCATTTACCCCCGCCAT	CGGAGTCCAGGTCCAGCTCCCCAAAGGGCAGGGGCAACCGCATGCCCAGTGGGTACTGCACGGAGCTGTAGGCTGCAGGGAACCAGAGTGGGTTCGTGGAGGCGGGCTTGGCATTTACCCCCGCCAT
1	missense_variant	1,918,484	C	A	null	null	null	0.058594	missense_variant	missense_variant	false	8,921	152,252	0	ENSG00000178821	312	ENSG00000178821	missense_variant	131	missense_variant	CGGAGGCAGCAGAACCGGACACAACCAGCTGTGACACCACACAGCAGAAGCAGGAGGACCGCCAGCAGGATGAGCCTAGGAGAGCAAGGCTCTACCACTGGACTGACCCTCGGCCACCGGGCACCTG	CACCCTGGGGAATGTCGTGGCACAACCACCGAAGACAGGTTAACAGGATAAAAAGCAGACAATGTCTCTCCATGTCGGAGACCGCCGTGGCCAGAGCCTGGCCTCGGGCTGCTGGGCCTGCCCTGGC	AACCCTGGGGAATGTCGTGGCACAACCACCGAAGACAGGTTAACAGGATAAAAAGCAGACAATGTCTCTCCATGTCGGAGACCGCCGTGGCCAGAGCCTGGCCTCGGGCTGCTGGGCCTGCCCTGGC
1	missense_variant	1,923,107	C	T	null	null	null	0.161354	missense_variant	missense_variant	false	24,541	152,094	0	ENSG00000142609	3,827	ENSG00000178821	missense_variant	236	missense_variant	GGCACCTTCTTTGGAGATGGCTGGGTGGTCCGGATACAGCCCACCTGCAGCTCTCGGGTGGCAGGTGGGGCTGGCGTGTCTGTGTCAAACTGGATGTAGTCCAGGGTCACCAGGATGGGCCTCAGCT	CCTCAGCTTCTGGAGAGAGAGGGCCTGGCCGGGAGCTGGCTGGAGGGGTGTGGCCAGGGGAGCTGTTCAGGGTCAGGCTGAGGCATGGGGTGAGGCTGCAGCTGGACTCCTGAACTCTGGTTAGCAG	TCTCAGCTTCTGGAGAGAGAGGGCCTGGCCGGGAGCTGGCTGGAGGGGTGTGGCCAGGGGAGCTGTTCAGGGTCAGGCTGAGGCATGGGGTGAGGCTGCAGCTGGACTCCTGAACTCTGGTTAGCAG
1	synonymous_variant	1,923,880	C	T	null	null	null	0.157005	synonymous_variant	synonymous_variant	false	23,865	152,002	0	ENSG00000142609	4,600	ENSG00000178821	synonymous_variant	287	synonymous_variant	GCTTGCAGAGCCAGAGCCGCACCTTTTCAAAGAGCACCACCTGGAGCTTGTCGGAGAAGTAGAGGCTTTCGTGGTCGGGGCTGAAGGTGACAGTGAAGTCTTGTGTCTTCCCGGGGTCCATGACGCC	CTTGACGGGGGCCACGCTGAACACGCTCTGACCGTTGAGATTCTGCGTCCCTGCGGGTAGGGTGGGGTGCAGTTTGGCCTTCTCCACCTGCAATCACTGTCTGCCCTCCAAGCCTTGCTGCATAGAG	TTTGACGGGGGCCACGCTGAACACGCTCTGACCGTTGAGATTCTGCGTCCCTGCGGGTAGGGTGGGGTGCAGTTTGGCCTTCTCCACCTGCAATCACTGTCTGCCCTCCAAGCCTTGCTGCATAGAG
1	missense_variant	1,927,692	C	T	null	null	null	0.237234	missense_variant	missense_variant	false	36,090	152,128	0	ENSG00000142609	8,412	ENSG00000178821	missense_variant	214	missense_variant	GGCCTGGAGGGAAGCAGGTGGGGCAGCCCCTCCTGGACCCACCTGGGCCTCAGCTCCCGCTTCCGCATCTCCAGGACGTGGGGGACAGAGACTTTGAACAGCTTGTCGCGGTTCTGTGCTCGAAGAA	CGGAGAATGACAGTCCATGCAGGTCCTTCCTCTGGGGGGCCATATTCTTTCGGAACTGTGGGGGGAGCGACTGGCTGTGGGGCTGTGCAGGGCCCTAAACACAGCCAGCTGTGCCCCGTGGCTCCTC	TGGAGAATGACAGTCCATGCAGGTCCTTCCTCTGGGGGGCCATATTCTTTCGGAACTGTGGGGGGAGCGACTGGCTGTGGGGCTGTGCAGGGCCCTAAACACAGCCAGCTGTGCCCCGTGGCTCCTC
1	missense_variant	1,927,737	T	C	null	null	null	0.16305	missense_variant	missense_variant	false	24,824	152,248	0	ENSG00000142609	8,457	ENSG00000178821	missense_variant	211	missense_variant	GGCCTCAGCTCCCGCTTCCGCATCTCCAGGACGTGGGGGACAGAGACTTTGAACAGCTTGTCGCGGTTCTGTGCTCGAAGAACGGAGAATGACAGTCCATGCAGGTCCTTCCTCTGGGGGGCCATAT	TCTTTCGGAACTGTGGGGGGAGCGACTGGCTGTGGGGCTGTGCAGGGCCCTAAACACAGCCAGCTGTGCCCCGTGGCTCCTCTGCGGCCAGTGCGGGAACCGCGGGAGCCGCAGTTGGGATTGAATG	CCTTTCGGAACTGTGGGGGGAGCGACTGGCTGTGGGGCTGTGCAGGGCCCTAAACACAGCCAGCTGTGCCCCGTGGCTCCTCTGCGGCCAGTGCGGGAACCGCGGGAGCCGCAGTTGGGATTGAATG
1	missense_variant	1,930,143	C	T	null	null	null	0.389498	missense_variant	missense_variant	false	59,227	152,060	0	ENSG00000142609	10,863	ENSG00000178821	missense_variant	106	missense_variant	GTGGAGCTCCTGCTTCCCAGCCTGCATGTGGGGCCCACACCCACCTTTCCTGGCCACACGGTCCCCACTGAGGGCGAGATGGTGATAGGCGAGTCTGGGGGCAGCAGGAACTCGAAAGACGTGGGCC	CCATGGGAGAGGCGTCCTCTGAGCCAATGCGGGGCTTGGAGTGGGTCGGTGAGCTCATGCTCAGGTGAGAGTTGATGACGTACACTGTAGCCACGGAGGTGTCGTATAGGGCCGTGGCGGCAAACTT	TCATGGGAGAGGCGTCCTCTGAGCCAATGCGGGGCTTGGAGTGGGTCGGTGAGCTCATGCTCAGGTGAGAGTTGATGACGTACACTGTAGCCACGGAGGTGTCGTATAGGGCCGTGGCGGCAAACTT

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