Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMOC2_chr6_168436184_168672992	168595248	C C	CGGGCATC others(350): Show CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCA CAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGG CCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGC CTCACAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19030.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0007t0005 a0001c0001t0006 a0001c0007t0005	a0001c0001t0006g0160 a0001c0007t0005g0050 a0001c0001t0006g0160 a0001c0007t0005g0050	2	180	0.0111	357	c.638 others(374): Show c.638-3550_638-3549insTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTC ACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAG GCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGG CCTCACAAGGGGCATCTTTCTAGAGGATC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS3_chr10_104636290_105270242	104807121	T T	TGGACTGT others(350): Show TGGACTGTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGACTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	134	0.0075	357	c.628 others(376): Show c.628-35657_628-35656insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGACTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCGGACTGTTGCTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPOCD1_chr1_31785422_31821022	31807407	A A	AGGGAGGG others(350): Show AGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAGGGGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGA GGGAGGGGGAGGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0075 a0003c0003t0001g0075	1	260	0.0039	357	c.138 others(376): Show c.1384-5703_1384-5702insCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCTCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCTCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SSPN_chr12_26190573_26239777	26204110	C C	CAGCAACC others(350): Show CAGCAACCTCAGTGACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCCGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	384	0.0026	357	c.279 others(374): Show c.279+8178_279+8179insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCCGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTAGCAACCTCAGTGACTCTT	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
STK17B_chr2_196128583_196176578	196153515	T T	TAGAAAAG others(350): Show TAGAAAAGTCCTAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp1 HG02559.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0143 a0001c0001t0001g0144	2	360	0.0056	357	c.335 others(374): Show c.335+2923_335+2924insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTTTTAGGACTTTTCT	STK17B	ENSG00000081320.11	transcript	ENST00000263955.9	protein_coding	3/7			chr2	TogoVar
STMN3_chr20_63634712_63658424	63641853	C C	CGCCCAGT others(350): Show CGCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGC CCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCCGCCCAGTGCCCC GCCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGC CCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTAGCCCCGCCCCCGCCCAGT GCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCC GCTCCGAGCTCCGCCCCGGCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTC CGCCCCGGCCCCGCCCCGGCCCAGTGCCCCGCCCCCTGCTAGCCCTGTCC CCGCCCCG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	388	0.0026	357	c.483 others(372): Show c.483+254_483+255insCGGGGCGGGGACAGGGCTAGCAGGGGGCGG GGCACTGGGCCGGGGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCC GGGGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGC AGGGCTAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCTAGG GCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAG GCAGGGGGCGGGGCACTGGGCGGGGGGCGGGGCACTGGGCGGGGGGCGGG GCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAG CAGCAGGCAGGGGGCGGGGCACTGGGC	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TTATATAT others(350): Show TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATAATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATAATATAACTATA TATTATATATAATATATATATTATATATAATATAACTATATATTATATAT AATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01261.hp1 HG01346.hp1 others(4): Show HG01074.hp2 HG01261.hp1 HG01346.hp1 HG01952.hp1 HG02698.hp2 HG02886.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0203 others(4): Show a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0017g0200	7	268	0.0261	357	c.73 others(368): Show c.7318_*7319insTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATAATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATAATATAACTATATATTATATATAATATATATATTATATATAATATAA CTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
TCF12_chr15_56913644_57294853	57082532	T T	TAAGAATA others(350): Show TAAGAATATAGCTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0231 a0001c0001t0026g0231	1	330	0.0030	357	c.223 others(374): Show c.223-9243_223-9242insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAATATAGCTAC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TERT_chr5_1248167_1300068	1272798	C C	CACGACCG others(350): Show CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC TGCCATCCAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0366 a0001c0001t0002g0366	1	392	0.0026	357	c.228 others(374): Show c.2287-519_2287-518insAGGGTCTGATGTGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTTGGTCCCGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGGATGGCAGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273645	A A	AACCGCCA others(350): Show AACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCACCATCCACAGTCACCACACATCAG ACCCCACG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	392	0.0026	357	c.228 others(376): Show c.2287-1366_2287-1365insCGTGGGGTCTGATGTGTGGTGACTGT GGATGGTGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEMIS_chr6_127703200_127906058	127746921	A A	ATTATTAT others(350): Show ATTATTATATAATTATATTATATATAATTATATATTATTATATAATTATA TTATATATAATTATATATTATTATATAATTATATTATATATAATTATATA TTATTATATAATTATATTATATATAATTATATATTATTATATAATTATAT TATATATAATTATATATTATTATATAATTATATTATATATAATTATATAT TATTATATAATTATATTATATATAATTATATATTATTATATAATTATATT ATATATAATTATATATTATTATATAATTATATTATATATAATTATATATT ATTATATAATTATATTATATATAATTATATATTATTATATAATTATATTA TATATAAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	223	0.0045	357	c.175 others(378): Show c.1759-27099_1759-27098insATTATATATAATATAATTATATAA TAATATATAATTATATATAATATAATTATATAATAATATATAATTATATA TAATATAATTATATAATAATATATAATTATATATAATATAATTATATAAT AATATATAATTATATATAATATAATTATATAATAATATATAATTATATAT AATATAATTATATAATAATATATAATTATATATAATATAATTATATAATA ATATATAATTATATATAATATAATTATATAATAATATATAATTATATATA ATATAATTATATAATAATATATAATTATATATAATATAATTATATAATAA TATATAATTATATATAATATAATTATATAATAA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
TH_chr11_2158929_2176815	2161592	A A	AGGACCCC others(350): Show AGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCTCAGACCC CTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCC CTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC AGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0104 a0001c0002t0005g0104	1	388	0.0026	357	c.26 others(368): Show c.2640_*2641insCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCTGGGGACAGGGGTCTGAGGACAGGGGTGTGGGGAC AGGGGTCCTGGGGACAGGGGTCC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2336		chr11	TogoVar
TM2D2_chr8_38983808_39001509	38998778	T T	TGAAAGAA others(350): Show TGAAAGAACATGACTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG03017.hp2 HG02040.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0040 a0001c0001t0002g0002 a0001c0001t0002g0040	2	432	0.0046	357	c.-23 others(368): Show c.-2340_-2339insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCAAGTCATGTTCTTTC	TM2D2	ENSG00000169490.17	transcript	ENST00000456397.7	protein_coding		2270		chr8	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGAGCG others(350): Show GAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCAC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0042 a0004c0006t0002g0042	1	444	0.0023	357	c.227 others(376): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCC CTTCGCTCCTGTGCCCACTCCCTTCGCTCCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(350): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02258.hp1 HG02572.hp2 others(4): Show HG00558.hp2 HG02258.hp1 HG02572.hp2 HG03942.hp1 NA18946.hp1 NA19068.hp1 NA19077.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004	a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 others(3): Show a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0003c0003t0001 a0003c0003t0005 a0005c0004t0021	a0001c0001t0003g0154 a0001c0001t0004g0161 a0002c0002t0002g0076 others(4): Show a0001c0001t0003g0154 a0001c0001t0004g0161 a0002c0002t0002g0076 a0002c0002t0002g0077 a0003c0003t0001g0378 a0003c0003t0005g0370 a0005c0004t0021g0221	7	444	0.0158	357	c.227 others(376): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115681	G G	GGCGAAGG others(350): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0010 a0004c0006t0010	a0004c0006t0010g0057 a0004c0006t0010g0057	1	444	0.0023	357	c.227 others(376): Show c.2277+1587_2277+1588insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115828	G G	GGCGAAGG others(350): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0339 a0001c0001t0003g0339	1	444	0.0023	357	c.227 others(376): Show c.2277+1440_2277+1441insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115870	G G	GGCGAAGG others(350): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0059 a0002c0002t0013g0059	1	444	0.0023	357	c.227 others(376): Show c.2277+1398_2277+1399insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115891	G G	GGCGAAGG others(350): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	444	0.0023	357	c.227 others(376): Show c.2277+1377_2277+1378insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115912	G G	GGCGAAGG others(350): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0008 a0004c0011t0008	a0004c0011t0008g0151 a0004c0011t0008g0151	1	444	0.0023	357	c.227 others(376): Show c.2277+1356_2277+1357insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM179_chr14_104585864_104609772	104603541	G G	GGCTCACA others(350): Show GGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACA GAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGT GGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGT TCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAG GGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGG TGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCA CAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGG GTGGGTGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0094 a0001c0002t0003g0094	1	407	0.0025	357	c.305 others(372): Show c.305+895_305+896insTCACCCACCCCCTCTGTGAACCCACCCACC CCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGT GAGCCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCAC CCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACTCCC TCTGTGAACCCACCCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAA CCCACCCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCA CCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCACTCCCTCT GTGAACCCACCCACTCCCTCTGTGAGC	TMEM179	ENSG00000258986.7	transcript	ENST00000556573.6	protein_coding	1/3			chr14	TogoVar
TMEM45A_chr3_100487619_100582444	100506599	A A	ATAGCACT others(350): Show ATAGCACTTCCTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18966.hp2 NA18988.hp2 NA18947.hp2 NA18966.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	322	0.0093	357	c.-4+ others(374): Show c.-4+13687_-4+13688insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTAGCACTTCCTCTTTC	TMEM45A	ENSG00000181458.10	transcript	ENST00000323523.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TNR_chr1_175310194_175748595	175651084	C C	CCCCCACC others(350): Show CCCCCACCTCATTACTACCCCTCCCCATCTCATTACTCCCCCCCACCTCA TTACTACCCCTCCCCATCTCATTACTCCTCCTCCCCCATCTCATTACTAC CTGTCCCCCACCTCCTTACTACCCCTCCCCCACCTCATTACTACCCATCT CCCACCTCATTCCTCCTCCTCCCCACCTCATTACTACCCCTCTCCCACCT CATTACTACCCCTCCCCACCTCATTACTACTCCTCCCCATCTCATTACTA CCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACTACTCCTCCCCAT CTCATTACTACCCCTCCCCACCTCATTATTCCACCTTCCCCACCTCATTA CTACCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01071.hp1 others(38): Show HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01175.hp1 HG01243.hp2 HG01361.hp2 HG01978.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02165.hp1 HG02280.hp2 HG02615.hp1 HG02630.hp2 HG02735.hp1 HG02922.hp1 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18949.hp1 NA18953.hp1 NA18964.hp1 NA18983.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19007.hp2 NA19085.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0001c0003 a0001c0005 others(13): Show a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0042 a0001c0043 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0002c0027 a0003c0001 a0004c0017 a0004c0019 a0005c0011 a0005c0035	a0001c0002t0001 a0001c0002t0027 a0001c0002t0060 others(25): Show a0001c0002t0001 a0001c0002t0027 a0001c0002t0060 a0001c0003t0004 a0001c0003t0025 a0001c0005t0069 a0001c0009t0017 a0001c0042t0001 a0001c0043t0018 a0002c0004t0003 a0002c0006t0010 a0002c0007t0010 a0002c0007t0045 a0002c0008t0019 a0002c0027t0050 a0003c0001t0002 a0003c0001t0005 a0003c0001t0010 a0003c0001t0014 a0003c0001t0016 a0003c0001t0036 a0003c0001t0041 a0003c0001t0047 a0004c0017t0002 a0004c0019t0029 a0005c0011t0011 a0005c0011t0015 a0005c0035t0053	a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0047 others(38): Show a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0047 a0001c0002t0001g0131 a0001c0002t0027g0002 a0001c0002t0060g0048 a0001c0003t0004g0068 a0001c0003t0025g0001 a0001c0005t0069g0069 a0001c0009t0017g0035 a0001c0009t0017g0052 a0001c0042t0001g0125 a0001c0043t0018g0055 a0002c0004t0003g0012 a0002c0004t0003g0013 a0002c0004t0003g0014 a0002c0006t0010g0129 a0002c0007t0010g0024 a0002c0007t0045g0049 a0002c0008t0019g0096 a0002c0027t0050g0105 a0003c0001t0002g0029 a0003c0001t0002g0051 a0003c0001t0005g0034 a0003c0001t0005g0060 a0003c0001t0005g0123 a0003c0001t0005g0128 a0003c0001t0010g0118 a0003c0001t0014g0058 a0003c0001t0014g0059 a0003c0001t0016g0027 a0003c0001t0016g0054 a0003c0001t0036g0106 a0003c0001t0041g0025 a0003c0001t0047g0080 a0004c0017t0002g0021 a0004c0019t0029g0042 a0005c0011t0011g0026 a0005c0011t0015g0032 a0005c0011t0015g0057 a0005c0035t0053g0070	41	132	0.3106	357	c.-16 others(378): Show c.-165+92141_-165+92142insAGGGGTAGTAATGAGGTGGGGAAG GTGGAATAATGAGGTGGGGAGGGGTAGTAATGAGATGGGGAGGAGTAGTA ATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGTAGTAATGAGATGGGG AGGAGTAGTAATGAGGTGGGGAGGGGTAGTAATGAGGTGGGAGAGGGGTA GTAATGAGGTGGGGAGGAGGAGGAATGAGGTGGGAGATGGGTAGTAATGA GGTGGGGGAGGGGTAGTAAGGAGGTGGGGGACAGGTAGTAATGAGATGGG GGAGGAGGAGTAATGAGATGGGGAGGGGTAGTAATGAGGTGGGGGGGAGT AATGAGATGGGGAGGGGTAGTAATGAGGTGGGG	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTTAGGGA others(350): Show GTTAGGGAGGCCGGGTTAGGGAGCCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCC AGGGTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAG GCTGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	466	0.0022	357	c.49 others(368): Show c.4905_*4906insACCCCAGCCTCCCTAACCCCGGCCTCCCTACCCT GGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTA ACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTACCCTG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCC CTAACCCCGGCCTCCCTAACCCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG GCTCCCTAACCCGGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TPCN2_chr11_69043932_69095597	69077105	T T	TTGCCCTC others(350): Show TTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACTTGCCCTCCTGCCCTCC TGTTGTGTCTGTCCACTTTCCCTCCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGTTGTGTCTGTCCACT TGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACC TGCCCTCCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCACGTC CCTCCACC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0173 a0006c0007t0006g0173	1	404	0.0025	357	c.123 others(376): Show c.1231-1332_1231-1331insATGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTCCACTTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCC TCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCC ACCTGCCCTCCTGTTGTGTCTGTCCACTTGCCCTCCTGCCATGTCCCTCC ACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCC ACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCGT GTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCT CCTGCCATGTCCCTCCACCTGCCCTCCTGCC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPGS1_chr19_502497_524654	523485	G G	GGTGAGCA others(350): Show GGTGAGCACGGGCCGGGGGCTCAGCATTTCCAGTGAGCACGGGCCGGGGG CTCCGCAGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCGGCATTTCCG GTGAGCACGGGCCGGGGGCTCAGCGGCATTTCCGGTGAGCACGGGCTGGG GGCTGAGCATTTCAGTGAGCACGGGCCGGGGGCTCGGCATTTCCAGTGAG CACGGGCCGGGTGCTCCGCAGCATTTCCGGTGAGCACGGGCCGGGGGCTC AGCAGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCATTTCCGGTGAGC ACGGGCCGGGGGCTCAGCAGCATTTCCGGTAAGCACGGGCCGGGGGCTCA GCATTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	344	0.0029	357	c.40 others(368): Show c.4062_*4063insGTGAGCACGGGCCGGGGGCTCAGCATTTCCAGTG AGCACGGGCCGGGGGCTCCGCAGCATTTCCGGTGAGCACGGGCCGGGGGC TCAGCGGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCGGCATTTCCGG TGAGCACGGGCTGGGGGCTGAGCATTTCAGTGAGCACGGGCCGGGGGCTC GGCATTTCCAGTGAGCACGGGCCGGGTGCTCCGCAGCATTTCCGGTGAGC ACGGGCCGGGGGCTCAGCAGCATTTCCGGTGAGCACGGGCCGGGGGCTCA GCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCAGCATTTCCGGTAAGCA CGGGCCGGGGGCTCAGCATTTCA	TPGS1	ENSG00000141933.9	transcript	ENST00000359315.6	protein_coding		3832		chr19	TogoVar
TRAF6_chr11_36478769_36515272	36507397	T T	TCTACATG others(350): Show TCTACATGTACACATGTATACATGTATCTACATGTACACATGTATACATG TATACACGTGTATACGTATACACGTGTATACACGTGTATACGTGTACACG TGTATACACGTGTATACACGTGTATACGTGTATACACGTGTATACACGTG TATACGTGTATACACGTGTATACATGTATACGTGTATACGTGTGTATACA TGTATACGTGTATACGTGTGTATACATGTATACGTGTATACGTGTGTATA CATGTGTATATGTGTATACGTGTGTATACATGTGTATACGTGTATACGTG TGTATACATGTGTATATGTGTATACGTGTGTATACATGTGTATACGTGTA TACGTGTG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0321 a0001c0001t0011g0321	1	388	0.0026	357	c.-23 others(374): Show c.-23+2650_-23+2651insCACACGTATACACGTATACACATGTATA CACACGTATACACATATACACATGTATACACACGTATACACGTATACACA TGTATACACACGTATACACATATACACATGTATACACACGTATACACGTA TACATGTATACACACGTATACACGTATACATGTATACACACGTATACACG TATACATGTATACACGTGTATACACGTATACACGTGTATACACGTGTATA CACGTATACACGTGTATACACGTGTATACACGTGTACACGTATACACGTG TATACACGTGTATACGTATACACGTGTATACATGTATACATGTGTACATG TAGATACATGTATACATGTGTACATGTAG	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC9_chr8_139722725_140462744	140037951	G G	GAAAGCTG others(350): Show GAAAGCTGTATTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0047 a0001c0003t0020g0047	1	98	0.0102	357	c.255 others(378): Show c.2557-13873_2557-13872insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAACAATACAGCTTT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRIO_chr5_14138342_14515204	14347086	C C	CGGACCTG others(350): Show CGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGATCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG03486.hp2 HG02257.hp1 HG02258.hp2 HG03486.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0009 a0003c0012t0005g0010 a0003c0012t0005g0011 a0003c0012t0005g0009 a0003c0012t0005g0010 a0003c0012t0005g0011	3	198	0.0152	357	c.204 others(378): Show c.2046+10566_2046+10567insTCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRNAU1AP_chr1_28548085_28583545	28571786	A A	AAAAATAA others(350): Show AAAAATAAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATAAAAAAAATAAAAAA AATAAAAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	296	0.0034	357	c.694 others(370): Show c.694-68_694-67insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATAAAAAAAATAA AAAAAATAAAATAAAATAAAAAATA	TRNAU1AP	ENSG00000180098.9	transcript	ENST00000373830.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
TSPAN9_chr12_3072379_3291559	3198730	C C	CCAGCACA others(350): Show CCAGCACAGGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCAGC ACAGGTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACA GGTCACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGG CCACCACCAGCACAGCTCACCACCAGCACAGCTCACCACCAGCACAGGCC ACCACCAGCACAGGTCACCACCAGCACAGCTCACCACCAGCACAGCTCAC CACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGTCACCA CCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACC AGCACCAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0155 a0001c0001t0091g0155	1	288	0.0035	357	c.-17 others(374): Show c.-17-2423_-17-2422insGTCACCAGCACAGGCCACCACCAGCACA GGTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGT CACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCA CCACCAGCACAGCTCACCACCAGCACAGCTCACCACCAGCACAGGCCACC ACCAGCACAGGTCACCACCAGCACAGCTCACCACCAGCACAGCTCACCAC CAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGTCACCACCA GCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGC ACCATCAGCACAGGCCACCACCAGCACAG	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPEAR_chr21_44492893_44716572	44591864	T T	TGAGGGCG others(350): Show TGAGGGCGTGCAGGAGCTGGTGCAGCCTGATTGGCAGGGGCTGGGCTCAC AGACCGCCTGGCAGCAGGGGCTGGACACACAGCTCACACAGCTAGACTGC TGGCAGCACGAAGAGGAAATCCCAGAGCAGACAGGCTTGCAGCAGATGGG CACACAGCAGGCCTGCTGGCAGGGGGAGGAGGTGCAGCAAGCTGACTGGC AGCTAGACTGCTGGCAGCATGAAGAATCCCCACTGCAGACAGGCACACAG TACACAGGCTTGCAGCAGACAGTCTTGCAGCAGACGGGCACGCAGCAGGC CTGCTGGCAGGGGGAGGAGGCACAGCAAGCCAGCTGGCAGCTAGACTGCT GGCAGCAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	294	0.0034	357	c.83- others(374): Show c.83-23860_83-23859insGTGCTGCCAGCAGTCTAGCTGCCAGCTG GCTTGCTGTGCCTCCTCCCCCTGCCAGCAGGCCTGCTGCGTGCCCGTCTG CTGCAAGACTGTCTGCTGCAAGCCTGTGTACTGTGTGCCTGTCTGCAGTG GGGATTCTTCATGCTGCCAGCAGTCTAGCTGCCAGTCAGCTTGCTGCACC TCCTCCCCCTGCCAGCAGGCCTGCTGTGTGCCCATCTGCTGCAAGCCTGT CTGCTCTGGGATTTCCTCTTCGTGCTGCCAGCAGTCTAGCTGTGTGAGCT GTGTGTCCAGCCCCTGCTGCCAGGCGGTCTGTGAGCCCAGCCCCTGCCAA TCAGGCTGCACCAGCTCCTGCACGCCCTC	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11			chr21	TogoVar
TSPEAR_chr21_44492893_44716572	44591870	T T	TGTGCAGG others(350): Show TGTGCAGGAGCTGGTGCAGCCTGATTGGCAGGGGCTGGGCTCACAGACCG CCTGGCAGCAGGGGCTGGACACACAGCTCACACAGCTAGACTGCTGGCAG CACGAAGAGGAAATCCCAGAGCAGACAGGCTTGCAGCAGATGGGCACACA GCAGGCCTGCTGGCAGGGGGAGGAGGTGCAGCAAGCTGACTGGCAGCTAG ACTGCTGGCAGCATGAAGAATCCCCACTGCAGACAGGCACACAGTACACA GGCTTGCAGCAGACAGTCTTGCAGCAGACGGGCACGCAGCAGGCCTGCTG GCAGGGGGAGGAGGCACAGCAAGCCAGCTGGCAGCTAGACTGCTGGCAGC ACGAGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(65): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01975.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02165.hp1 HG02258.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 NA18612.hp2 NA18940.hp2 NA18949.hp2 NA18954.hp2 NA18955.hp1 NA18971.hp1 NA18977.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19077.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp1	a0000 a0001 a0004 a0000 a0001 a0004	a0000c0011 a0001c0001 a0001c0002 others(4): Show a0000c0011 a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0004c0018	a0000c0011t0025 a0001c0001t0001 a0001c0001t0002 others(10): Show a0000c0011t0025 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0024 a0001c0002t0008 a0001c0004t0010 a0001c0007t0020 a0001c0009t0001 a0004c0018t0013	a0000c0011t0025g0111 a0001c0001t0001g0007 a0001c0001t0001g0008 others(65): Show a0000c0011t0025g0111 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0226 a0001c0001t0002g0266 a0001c0001t0003g0293 a0001c0001t0004g0090 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0005g0028 a0001c0001t0005g0100 a0001c0001t0005g0246 a0001c0001t0006g0104 a0001c0001t0006g0183 a0001c0001t0006g0265 a0001c0001t0024g0285 a0001c0002t0008g0121 a0001c0004t0010g0148 a0001c0007t0020g0012 a0001c0009t0001g0098 a0004c0018t0013g0041	68	294	0.2313	357	c.83- others(374): Show c.83-23866_83-23865insGCCCTCGTGCTGCCAGCAGTCTAGCTGC CAGCTGGCTTGCTGTGCCTCCTCCCCCTGCCAGCAGGCCTGCTGCGTGCC CGTCTGCTGCAAGACTGTCTGCTGCAAGCCTGTGTACTGTGTGCCTGTCT GCAGTGGGGATTCTTCATGCTGCCAGCAGTCTAGCTGCCAGTCAGCTTGC TGCACCTCCTCCCCCTGCCAGCAGGCCTGCTGTGTGCCCATCTGCTGCAA GCCTGTCTGCTCTGGGATTTCCTCTTCGTGCTGCCAGCAGTCTAGCTGTG TGAGCTGTGTGTCCAGCCCCTGCTGCCAGGCGGTCTGTGAGCCCAGCCCC TGCCAATCAGGCTGCACCAGCTCCTGCAC	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11			chr21	TogoVar
TSPEAR_chr21_44492893_44716572	44591870	T T	TGTGCAGG others(350): Show TGTGCAGGAGCTGGTGCAGCCTGATTGGCAGGGGCTGGGCTCACAGACCG CCTGGCAGCAGGGGCTGGACACACAGCTCACACAGCTAGACTGCTGGCAG CACGAAGAGGAAATCCCAGAGCAGACAGGCTTGCAGCAGATGGGCACACA GCAGGCCTGCTGGCAGGGGGAGGAGGTGCAGCAAGCTGACTGGCAGCTAG ACTGCTGGCAGCATGAAGAATCCCCACTGCAGACAGGCACACAGTACACA GGCTTGCAGCAGACAGTCTTGCAGCAGACGGGCATGCAGCAGGCCTGCTG GCAGGGGGAGGAGGCACAGCAAGCCAGCTGGCAGCTAGACTGCTGGCAGC ACGAGGGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01175.hp1 HG00639.hp2 HG01071.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0110 a0001c0001t0001g0223 a0001c0001t0001g0021 a0001c0001t0001g0110 a0001c0001t0001g0223	3	294	0.0102	357	c.83- others(374): Show c.83-23866_83-23865insGCCCTCGTGCTGCCAGCAGTCTAGCTGC CAGCTGGCTTGCTGTGCCTCCTCCCCCTGCCAGCAGGCCTGCTGCATGCC CGTCTGCTGCAAGACTGTCTGCTGCAAGCCTGTGTACTGTGTGCCTGTCT GCAGTGGGGATTCTTCATGCTGCCAGCAGTCTAGCTGCCAGTCAGCTTGC TGCACCTCCTCCCCCTGCCAGCAGGCCTGCTGTGTGCCCATCTGCTGCAA GCCTGTCTGCTCTGGGATTTCCTCTTCGTGCTGCCAGCAGTCTAGCTGTG TGAGCTGTGTGTCCAGCCCCTGCTGCCAGGCGGTCTGTGAGCCCAGCCCC TGCCAATCAGGCTGCACCAGCTCCTGCAC	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11			chr21	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(350): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATTATATATTATTATATATAATATAATATATA TTATTATATATTATTATATATAATAATATATAATATATATTATTATATAT TATTATATATAATAATATAATATATATTATTATATATAATAATATAATAT ATATTATTATATATTATTATATATAATATAATATATATTATTATATATTA TTATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01258.hp1 HG04184.hp1 HG01074.hp2 HG01258.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0123 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0123	3	238	0.0126	357	c.392 others(374): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATATTATTATATATAATAATATATAATAATATATATTATATTATATATA ATAATATATAATAATATATATTATATTATATATAATAATATATAATAATA TATATTATATTATATATAATAATATATAATAATATATATTATATTATATA TAATAATATATAATAATATATATTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(350): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATTATATATTATTATATATAATATAATATATA TTATTATATATTATTATATATAATAATATATAATATATATTATTATATAT TATTATATATAATAATATAATATATATTATTATATATAATAATATAATAT ATATTATTATTTATTATTATATATAATATAATATATATTATTATATATTA TTATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19007.hp2 NA18612.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0075 a0001c0002t0001g0076	2	238	0.0084	357	c.392 others(374): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATAAATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATATTATTATATATAATAATATATAATAATATATATTATATTATATATA ATAATATATAATAATATATATTATATTATATATAATAATATATAATAATA TATATTATATTATATATAATAATATATAATAATATATATTATATTATATA TAATAATATATAATAATATATATTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UCN3_chr10_5359966_5379692	5369997	G G	GTGTGTGT others(350): Show GTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTATGTGTGTGT ATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTTCATGTGT ATGTGTGTAAGGTGTGTATGTGTGTGTGTGTATGTGTGTGTATGTGTGTG TATATGTGTGTGTATGTGTGTGTGTATGCGTGTGTATATGCGTGTGTATG TGTGTGTATGTGTGTATGTGTGTGTATATGTGCGTGTATATGTGTGTGTG TATGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTGTATATGTGCG TGTATATGTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTGTGTA TGTGTGTA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19001.hp2 NA19005.hp2 others(1): Show NA18968.hp1 NA19001.hp2 NA19005.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0402 a0001c0002t0005g0403 a0001c0002t0005g0404 others(1): Show a0001c0002t0005g0402 a0001c0002t0005g0403 a0001c0002t0005g0404 a0001c0002t0005g0405	4	468	0.0086	357	c.-6- others(372): Show c.-6-3711_-6-3710insATGTGTGTGTATGTGTGTGTGTATATGTGT GTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGT GTGTTCATGTGTATGTGTGTAAGGTGTGTATGTGTGTGTGTGTATGTGTG TGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGCGTGTGTATA TGCGTGTGTATGTGTGTGTATGTGTGTATGTGTGTGTATATGTGCGTGTA TATGTGTGTGTGTATGTGTGTATGTGTGTATATGTGTGTATATGTGTGTG TGTATATGTGCGTGTATATGTGTGTGTGTATGTGTGTATGTGTGTGTATA TGTGTGTGTGTATGTGTGTATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UMAD1_chr7_7635752_7884223	7678880	A A	AATATATA others(350): Show AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02451.hp2 HG02647.hp1 others(5): Show HG00733.hp2 HG02451.hp2 HG02647.hp1 HG02818.hp2 HG03669.hp1 NA18986.hp2 NA19010.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0029 a0001c0001t0071	a0001c0001t0001g0029 a0001c0001t0001g0114 a0001c0001t0002g0027 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0114 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0011g0040 a0001c0001t0013g0129 a0001c0001t0029g0233 a0001c0001t0071g0004	8	250	0.0320	357	c.82+ others(372): Show c.82+5428_82+5429insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678903	T T	TATAAATA others(350): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTA ATTTATAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	250	0.0040	357	c.82+ others(372): Show c.82+5455_82+5456insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATTTATATATTTAATTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678961	A A	AATATATA others(350): Show AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG01361.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0072 a0001c0001t0002 a0001c0001t0072	a0001c0001t0002g0037 a0001c0001t0072g0024 a0001c0001t0002g0037 a0001c0001t0072g0024	2	250	0.0080	357	c.82+ others(372): Show c.82+5509_82+5510insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678988	A A	AATATATA others(350): Show AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0197 a0001c0001t0012g0197	1	250	0.0040	357	c.82+ others(372): Show c.82+5536_82+5537insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF778_chr16_89212703_89242141	89224967	T T	TAAGATGC others(350): Show TAAGATGCATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18988.hp2 HG00673.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0037 a0001c0001t0004 a0001c0001t0037	a0001c0001t0004g0100 a0001c0001t0037g0099 a0001c0001t0004g0100 a0001c0001t0037g0099	2	434	0.0046	357	c.328 others(372): Show c.328+179_328+180insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGATGCATTCTGG	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(351): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCT AAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGATGGA TGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAA TGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGG TGGGATGGC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	357	0.0028	358	c.278 others(377): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTA TCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAGCCATCCC ACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACTC ATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCCACTCATTT ATCCATCCCACCCACTCATTTATCCATCCCACCTCATTTATGCATCCCAC CCACTCATTTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1289111	T T	TCCCGTGT others(351): Show TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	295	0.0034	358	c.44 others(369): Show c.4452_*4453insGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGG ACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGG CAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGG ACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACA CGGGGGACGGGGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3279		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289219	T T	TCCGTCCC others(351): Show TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0047 a0001c0013t0001g0047	1	295	0.0034	358	c.43 others(369): Show c.4344_*4345insGGCAGAGACACGGGACGGAGCAGGGACACGGGAC GGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGA GACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGG GGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGG GGACGGGGCAGAGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3171		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCCCGTGT others(351): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	295	0.0034	358	c.43 others(369): Show c.4300_*4301insACGGGGCAGGGACACGGGACGGGGCAGAGACACG GGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGAC GGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACTCGGGGGACGGGGCAGAGACACGGGACGGGG CAGAGACACGGGGGACGGGGCAGAGACTCGGGGGACGGAGCAGAGACACG GGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ADAMTS12_chr5_33518535_33896990	33596176	C C	CAAAAGTT others(351): Show CAAAAGTTACTTGGTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGA GATCGCGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0015 a0015	a0015c0059 a0015c0059	a0015c0059t0003 a0015c0059t0003	a0015c0059t0003g0222 a0015c0059t0003g0222	1	224	0.0045	358	c.252 others(375): Show c.2528-117_2528-116insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCT TTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTCAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCAAAACCAAGTAACTTTT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	16/23			chr5	TogoVar
AFF2_chrX_148495617_149005663	148581421	T T	TATACGTA others(351): Show TATACGTATACGTGTACACACATATATATACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACACGTATATACGTATACGTGTACACACACA TACACGTATATACGTCTACGTGTACACACATATACACGTCTACGTGTACA CACATATAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0013 a0001c0001t0048g0013	1	169	0.0059	358	c.48- others(375): Show c.48-70577_48-70576insTACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACACGTATATA CGTATACGTGTACACACACATACACGTATATACGTCTACGTGTACACACA TATACACGTCTACGTGTACACACATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(351): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCTCACCCTGCACCTCCCTCT CGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCT CCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCC CCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0036 a0005c0005t0008g0036	1	268	0.0037	358	c.-37 others(369): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCC CCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGC ACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCTCAC CCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATC CTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCC CCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(351): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT CACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCC TGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCT GCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCC CCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02965.hp1 HG03195.hp1 HG02886.hp2 HG02965.hp1 HG03195.hp1	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0001 a0004c0003 a0012c0018 a0001c0001 a0004c0003 a0012c0018	a0001c0001t0017 a0004c0003t0007 a0012c0018t0017 a0001c0001t0017 a0004c0003t0007 a0012c0018t0017	a0001c0001t0017g0264 a0004c0003t0007g0266 a0012c0018t0017g0265 a0001c0001t0017g0264 a0004c0003t0007g0266 a0012c0018t0017g0265	3	268	0.0112	358	c.-37 others(369): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCC CCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTA CCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCC TCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCC ACCTTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar

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