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
TBC1D22A_chr22_46757650_47180693	46859552	T T	TGTGCTCC others(353): Show TGTGCTCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGCGCAGTG CCGTGCCCCTTCCCGGGACCAGAATCCTTTGTTGATAGAGGTCCGCGCAG TGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCA GTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCA CAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGC GCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCG CGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTC CGCGCAGTGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp1 HG00558.hp1 HG00741.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0014 a0002c0003t0003 a0001c0001t0014 a0002c0003t0003	a0001c0001t0014g0065 a0002c0003t0003g0028 a0001c0001t0014g0065 a0002c0003t0003g0028	2	112	0.0179	360	c.638 others(379): Show c.638-19097_638-19096insTCCTTCCCGGGACCAGAATCCTTTTC GATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTG TTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTT TTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCT TTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859552	T T	TGTGCTCC others(353): Show TGTGCTCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGCGCAGTG CCGTGCCCCTTCCTGGGACCAGAATCCTTTGTTGATAGAGGTCCGCGCAG TGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCA GTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCA CAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGC GCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCG CGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTC CGCGCAGTGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01496.hp1 others(9): Show HG00642.hp1 HG00642.hp2 HG01496.hp1 HG01884.hp1 HG02257.hp1 HG02717.hp1 HG02723.hp2 HG02976.hp1 HG03130.hp1 HG03486.hp1 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0008 a0001c0001t0001g0057 a0001c0001t0001g0074 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0057 a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0037 a0001c0001t0003g0063 a0001c0001t0008g0044 a0001c0001t0010g0004 a0001c0001t0011g0106	12	112	0.1071	360	c.638 others(379): Show c.638-19097_638-19096insTCCTTCCCGGGACCAGAATCCTTTTC GATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAGAATCCTTTG TTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTT TTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCT TTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859706	T T	TGTGCTCC others(353): Show TGTGCTCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGCGCAGTG CCGTGCCCCTTCCTGGGACCAGAATCCTTTGTTGATAGAGGTCCGCGCAG TGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCA GTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCA CAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGC GCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCG CGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTC CGCGCAGTGCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	112	0.0089	360	c.638 others(379): Show c.638-18943_638-18942insTCCTTCCCGGGACCAGAATCCTTTTC GATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAGAATCCTTTG TTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTT TTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCT TTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859956	G G	GCAGTGCC others(353): Show GCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCC GCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTC CGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGT CCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGAGG TCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAGAATCCTTTGTTGATAGA GGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAG AGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGAT AGAGGTCCGCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	112	0.0089	360	c.638 others(379): Show c.638-18691_638-18690insCGTGCCCCTTCCCGGGACCAGAATCC TTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAG AATCCTTTGTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGAC CAGAATCCTTTTTTGATAGAGGTCCGCACAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859956	G G	GCAGTGCC others(353): Show GCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCC GCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTC CGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGT CCGCGCAGTGCTGTGCTCCTTCCCGGGACCAGAATCCTTTTCGATAGAGG TCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAGAATCCTTTGTTGATAGA GGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAG AGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGAT AGAGGTCCGCA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	112	0.0089	360	c.638 others(379): Show c.638-18691_638-18690insCGTGCCCCTTCCCGGGACCAGAATCC TTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCTCCTTCCCGGGACCAGA ATCCTTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAG AATCCTTTGTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGAC CAGAATCCTTTTTTGATAGAGGTCCGCACAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82848817	T T	TCTGCTGC others(353): Show TCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTC TCCACCTCGATGTCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCC CCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTG TGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCTTCTCCACCT CGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTTGATGTCCCCCGCT CTGCCTGCTGTGTCTTCTCACCTCGATGTCCCCCTCTGCCTGCTGCGTCT TCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATG TCCCCCTCTGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	318	0.0031	360	c.131 others(381): Show c.1319-21341_1319-21340insTCTGCCTGCTGCGTCTTCTCCACC TCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTC TGCCTGCTGTGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCT TCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTTGATG TCCCCCGCTCTGCCTGCTGTGTCTTCTCACCTCGATGTCCCCCTCTGCCT GCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCC ACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCC CTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBXAS1_chr7_139824264_140025293	139950658	T T	TCCCTCGC others(353): Show TCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	270	0.0037	360	c.451 others(377): Show c.451-2705_451-2704insGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGG ACCCCCTCGCCCTCCATCTACGGGACCCCCTC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(353): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	270	0.0037	360	c.451 others(377): Show c.451-2558_451-2557insCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACC CCCTCGCCCTCCATCTACGGGACCCCCTCGCC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(353): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCTTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	270	0.0037	360	c.451 others(377): Show c.451-2664_451-2663insTCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCTTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950856	G G	GCCCTCCA others(353): Show GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCACCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCACCCTCCATCTA CGGGACCCCCTCACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	270	0.0037	360	c.451 others(377): Show c.451-2476_451-2475insGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACC CCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCC CTCACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCACCCTCCATCTACGGGACCCCCTCACC CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCACCCT CCATCTACGGGACCCCCTCGCCCTCCATCTAC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF4_chr18_55217185_55593192	55478830	G G	GCAACAAA others(353): Show GCAACAAACAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	122	0.0082	360	c.146 others(379): Show c.146-14694_146-14693insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAACTGTTTGTTG	TCF4	ENSG00000196628.20	transcript	ENST00000354452.8	protein_coding	3/19			chr18	TogoVar
TENM4_chr11_78647829_79446030	79139275	T T	TATATATT others(353): Show TATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAA ATATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTAT ATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAA TATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAA ATATATAAAATATATATTATATTTCTATAAATATATAAAACATATATTAT ATTTCTATAAATATATAAAACATATATTATATTTCTATAAATATATAAAA CATATATTATATTTCTATAAATATATAAAACATATATTATATTTCTATAA ATATATAAAAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0005 a0001c0001t0020g0005	1	94	0.0106	360	c.-66 others(377): Show c.-66+9434_-66+9435insGTTTTATATATTTATAGAAATATAATAT ATGTTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGA AATATAATATATGTTTTATATATTTATAGAAATATAATATATGTTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTATAGA AATATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATAT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139562	G G	GAAATATA others(353): Show GAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAATATATATTATATTTATAGAAATATATAAAATATATATTATATTTATA GAAATATATAAAATATATATTATATTTATAGAAATATATAAAATATATAT TATATTTATAGAAATATATAAAATATATATTATATTTATAGAAATATATA AAATATATATTATATTTATATAAATATATAAAATATATATTATATTTATA TAAATATATAAAATATATATTATATTTATATAAATATATAAAATATATAT TATATTTATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0016 a0008c0015t0016	a0008c0015t0016g0084 a0008c0015t0016g0084	1	94	0.0106	360	c.-66 others(377): Show c.-66+9147_-66+9148insATATAAATATAATATATATTTTATATAT TTATATAAATATAATATATATTTTATATATTTATATAAATATAATATATA TTTTATATATTTATATAAATATAATATATATTTTATATATTTCTATAAAT ATAATATATATTTTATATATTTCTATAAATATAATATATATTTTATATAT TTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATATATA TTTTATATATTTCTATAAATATAATATATATTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTTCTATAAATATAATATATGTTTTATATAT TTCTATAAATATAATATATGTTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1273530	C C	CCCCACGA others(353): Show CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGAT CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACATCAGA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	392	0.0026	360	c.228 others(379): Show c.2287-1251_2287-1250insTCTGATGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGATCGGTCACAGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACATCA others(353): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCACACATCA GACCCCTGTGACCGATCACCATCCACAGTCACCACACATCAGACCCCACG ACTGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATC CACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	392	0.0026	360	c.228 others(379): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACT GTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGGCC others(353): Show CCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	206	0.0049	360	c.443 others(379): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACACCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGGCC others(353): Show CCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02258.hp2 others(5): Show HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02630.hp2 HG02895.hp1 HG03139.hp1 HG04115.hp2 NA20300.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0011 a0001c0001 a0003c0003 a0009c0011	a0001c0001t0001 a0003c0003t0001 a0009c0011t0001 a0001c0001t0001 a0003c0003t0001 a0009c0011t0001	a0001c0001t0001g0090 a0003c0003t0001g0109 a0003c0003t0001g0128 others(5): Show a0001c0001t0001g0090 a0003c0003t0001g0109 a0003c0003t0001g0128 a0003c0003t0001g0145 a0003c0003t0001g0151 a0009c0011t0001g0139 a0009c0011t0001g0141 a0009c0011t0001g0152	8	206	0.0388	360	c.443 others(379): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACACCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGGCC others(353): Show CCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	206	0.0049	360	c.443 others(379): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACACCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THBS3_chr1_155190588_155212897	155190952	G G	GTCCGGGG others(353): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTG GAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGG GGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACAC CGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCC GAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCT CTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGG CCGGCCTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA18747.hp1 NA20300.hp1 HG03516.hp2 NA18747.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0002 a0001c0001t0001g0006	3	298	0.0101	360	c.48 others(371): Show c.4888_*4889insGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCA GCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCAC CGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCC CGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGC AGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGC CCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTG TCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCA GCCCACGGTGTCACCTCGGCCCCGGA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4635		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191012	G G	GTCCGGGG others(353): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTG GAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGC GGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACAC CGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCC GAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCT CTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	360	c.48 others(371): Show c.4828_*4829insGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCA GCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCAC CGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCC CGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGC AGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGC CCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTG TCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCA GCCCACGGTGTCACCTCGGCCCCGGA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4575		chr1	TogoVar
TLL2_chr10_96359608_96518926	96415731	C C	CTCTTTCT others(353): Show CTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCC TTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTTTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0026 a0001c0001t0014g0026	1	256	0.0039	360	c.924 others(377): Show c.924-2416_924-2415insAAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGACAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAAGGAGACAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAAAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM120B_chr12_121707752_121787068	121747311	A A	ACTGGGGT others(353): Show ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0173 a0001c0001t0071g0173	1	314	0.0032	360	c.189 others(377): Show c.189-1002_189-1001insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747958	C C	CTGGGGTA others(353): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTA GAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTA GAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0242 a0002c0002t0004g0242	1	314	0.0032	360	c.189 others(375): Show c.189-368_189-367insTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM178B_chr7_141069064_141485380	141337153	C C	CACCACCA others(353): Show CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCACCACCACCATCATC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCAGCATCACCA CCATCACCACCACCACCACCACCATCACCACCAGCATCACCACCATCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCAC CACCACGACCACCACCAGCATCACCACCATCACCACCATCACCACCACCA CCACCATCACT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 NA20300.hp1 HG02572.hp1 HG02647.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0009 a0001c0002t0026 a0001c0001t0008 a0001c0001t0009 a0001c0002t0026	a0001c0001t0008g0004 a0001c0001t0009g0078 a0001c0002t0026g0041 a0001c0001t0008g0004 a0001c0001t0009g0078 a0001c0002t0026g0041	3	80	0.0375	360	c.497 others(381): Show c.497-100451_497-100450insCCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCAGCATCACCACCATCACCACCACCACCACCACCATCACC ACCAGCATCACCACCATCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCACGACCACCACCAGCATCACCACCA TCACCACCATCACCACCACCACCACCATCACTACCA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TP73_chr1_3647516_3741201	3706328	T T	TGGGGAGA others(353): Show TGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGG AGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCTGGGAGAGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCTGGGAGAGGGGTAATAGGG ACAATCACGGTGCCCGCCGCAGGCCCTGGGAGAGGGGTAATAGGGACAAT CACGGTGCCCGCCGCAGGCCCTGGGAGAGGGGTAATAGGGACAATCACGG TGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCC GCCGCAGGCCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	358	0.0028	360	c.187 others(377): Show c.187-1170_187-1169insAGGGGTAATAGGGACAATCACGGTGCCC GCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGC AGGCCCTGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCC CTGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCTGGG AGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCTGGGAGAGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGG ACAATCACGGTGCCCGCCGCAGGCCCGGGGAG	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3706335	A A	AGGGGTAA others(353): Show AGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGG TAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATA GGGACAATCACGGTGCCCGCTGCAGGCCCTGGGAGAGGGGTAATAGGGAC AATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCA CGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTG CCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGC CGCAGGCCCTGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAG GCCCGGGGAGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0156 a0001c0003t0006g0156	1	358	0.0028	360	c.187 others(377): Show c.187-1095_187-1094insTGCAGGCCCTGGGAGAGGGGTAATAGGG ACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAAT CACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGG TGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCC GCCGCAGGCCCTGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGC AGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCC CGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGG AGGGGGGTAATAGGGACAATCACGGTGCCCGC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPO_chr2_1408463_1548673	1522370	C C	CGCCACCG others(353): Show CGCCACCGTGCCCTCACAGTCTCTCTACCCCACACCTGCCTGCCACCGTG CCCTCGCAGTCTCTCTTCCCCACACCTGCCTGCCACCGTGCCCTCACAGT CTCTCTACCCCACACCTGCCTGCCACCGTGCCCTCGCAGTCTCTCTTCCC CACACCTGCCTGCCACCGTGCCCTCACAGACTCTCTTCCCCACACCTGCC TGCCACCGTGCCCTCACAGACTCTCTACCCCACACCGGCCCGCCACCGTG CCCTCACAGTCTCTCTACCCCACACCTGCCTGCCACCGTGCCCTCGCAGT CTCTCTTCCCCACACCTGCCTGCCACCGTGCCCTCGCAGTCTCTCTTCCC CACACCTGCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0004 a0007c0020t0004	a0007c0020t0004g0018 a0007c0020t0004g0018	1	130	0.0077	360	c.261 others(379): Show c.2618+5486_2618+5487insTCTCTCTACCCCACACCTGCCTGCCA CCGTGCCCTCGCAGTCTCTCTTCCCCACACCTGCCTGCCACCGTGCCCTC ACAGACTCTCTTCCCCACACCTGCCTGCCACCGTGCCCTCACAGACTCTC TACCCCACACCGGCCCGCCACCGTGCCCTCACAGTCTCTCTACCCCACAC CTGCCTGCCACCGTGCCCTCGCAGTCTCTCTTCCCCACACCTGCCTGCCA CCGTGCCCTCGCAGTCTCTCTTCCCCACACCTGCCTGCCACCGTGCCCTC ACAGTCTCTCTACCCCACACCTGCCTGCCACCGTGCCCTCGCAGTCTCTC TTCCCCACACCTGCCTGCCACCGTGCCCTCACAG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1530316	C C	CCCGATGT others(353): Show CCCGATGTGTGCAACACCCCCAAGTCCCCCCCACTGTGAGCAACCACCCC AGTCCCCCCACAGTGTGCAAACACCCCACATCTCCCCCACTGTGAGCAAA ACCACAAATCCCCCCAGTGTGTGCAACCTCCTCAATTCCCCCCACTGTGT GCAACCCCCCAAATGCCCCCCAATGTGAGCAACCCCCCCAAATCAACATG CTGTGTGAAACCTCAAATCCCCCAACTGTGTGCAACCTCCCCAAATCCCC TCCACTGTGTGCAACCTCAAGTCCGCCACTGTGTGCAACCCCCGCAAATC CTCCCAGTGTTCGCAACCTCCTCAAATCCTCTCACTGTGTGCAACCTTCT CAAATCCCACG	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18612.hp2 HG00423.hp1 NA18612.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0096 a0003c0006t0004g0097	2	130	0.0154	360	c.261 others(381): Show c.2619-10278_2619-10277insCCGATGTGTGCAACACCCCCAAGT CCCCCCCACTGTGAGCAACCACCCCAGTCCCCCCACAGTGTGCAAACACC CCACATCTCCCCCACTGTGAGCAAAACCACAAATCCCCCCAGTGTGTGCA ACCTCCTCAATTCCCCCCACTGTGTGCAACCCCCCAAATGCCCCCCAATG TGAGCAACCCCCCCAAATCAACATGCTGTGTGAAACCTCAAATCCCCCAA CTGTGTGCAACCTCCCCAAATCCCCTCCACTGTGTGCAACCTCAAGTCCG CCACTGTGTGCAACCCCCGCAAATCCTCCCAGTGTTCGCAACCTCCTCAA ATCCTCTCACTGTGTGCAACCTTCTCAAATCCCACG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TPSD1_chr16_1251069_1264008	1258679	C C	CTGAGCCC others(353): Show CTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCCCTGC TCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCCTCCCCTTTCTTGAG CCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCCAT CCTGGGCCCCCCTCCCCCTTTCTTGAGCCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCC CTCCCCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0041	a0002c0002t0041g0002 a0002c0002t0041g0002	1	270	0.0037	360	c.31 others(369): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC CCTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCCTCCCCTTTC TTGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCC CCCATCCTGGGCCCCCCTCCCCCTTTCTTGAGCCCCCCTCCCCCACCCTG AGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCC TTTCTTGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCC TCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCA GCCCCCTCCCCTTTCTTGAGCCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIM46_chr1_155168849_155189970	155189785	G G	GTCCGGGG others(353): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTG GAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGG GGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACAC CGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCC GAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCT CTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	348	0.0029	360	c.55 others(371): Show c.5595_*5596insTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGG CGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGG GCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGT GACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCG GGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGC CTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCC CGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGG CGGTGGAGCCCGGGGCCGGCCTGCTC	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4816		chr1	TogoVar
TRPC6_chr11_101446564_101589007	101558314	T T	TATGTATA others(353): Show TATGTATACATGTATACGGGTATACATGTATATATGTATACATGTATACG GGTATACATGTATATATGTATACATGTATACGGGTATACATGTATATATG TATACATGTATACGGGTATACATGTATATATGTATACATGTATACGGGTA TACATGTATATATGTATACATGTATACGGGTATACATGTATATATGTATA CATGTATATGGGTATACATGTATATATGTATACATGTATATGGGTATACA TGTATATATGTATACATGTATATGGGTATACATGTATACATGTATACATG TATATGGGTATACATGTATACATGTATATGGGTATACATGTATACATGTA TATGGGTATAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0232 a0001c0002t0004g0232	1	252	0.0040	360	c.170 others(379): Show c.170+25019_170+25020insGTATACCCATATACATGTATACATGT ATACCCATATACATGTATACATGTATACCCATATACATGTATACATGTAT ACATGTATACCCATATACATGTATACATATATACATGTATACCCATATAC ATGTATACATATATACATGTATACCCATATACATGTATACATATATACAT GTATACCCGTATACATGTATACATATATACATGTATACCCGTATACATGT ATACATATATACATGTATACCCGTATACATGTATACATATATACATGTAT ACCCGTATACATGTATACATATATACATGTATACCCGTATACATGTATAC ATATATACATGTATACCCGTATACATGTATACAT	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TRPC6_chr11_101446564_101589007	101558386	C C	CATGTATA others(353): Show CATGTATACGGGTATACATGTATACATGTATACATGTATACGGGTATACA TGTATACATGTATACATGTATACGGGTATACATGTATACATGTATACATG TATACGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTA TACATGTATACATGTATACGGGTATACATGTATACATGTATACATGTATA CGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTATACA TGTATACATGTATACGGGTATACATGTATACATGTATACATGTATATGGG TATACATGTATACATGTATATGGGTATACATGTATACATGTATATGGGTA TACATGTATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0227 a0001c0001t0006g0227	1	252	0.0040	360	c.170 others(379): Show c.170+24947_170+24948insATATACATGTATACCCATATACATGT ATACATGTATACCCATATACATGTATACATGTATACCCATATACATGTAT ACATGTATACATGTATACCCGTATACATGTATACATGTATACATGTATAC CCGTATACATGTATACATGTATACATGTATACCCGTATACATGTATACAT GTATACATGTATACCCGTATACATGTATACATGTATACATGTATACCCGT ATACATGTATACATGTATACATGTATACCCGTATACATGTATACATGTAT ACATGTATACCCGTATACATGTATACATGTATACATGTATACCCGTATAC ATGTATACATGTATACATGTATACCCGTATACAT	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TRPC6_chr11_101446564_101589007	101558386	C C	CATGTATA others(353): Show CATGTATACGGGTATACATGTATACATGTATACATGTATACGGGTATACA TGTATACATGTATACATGTATACGGGTATACATGTATACATGTATACATG TATACGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTA TACATGTATACATGTATACGGGTATACATGTATACATGTATACATGTATA CGGGTATACATGTATACATGTATACATGTATATGGGTATACATGTATACA TGTATACATGTATATGGGTATACATGTATACATGTATATGGGTATACATG TATACATGTATATGGGTATACATGTATACATGTATACATGTATATGGGTA TACATGTATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0243 a0001c0001t0006g0243	1	252	0.0040	360	c.170 others(379): Show c.170+24947_170+24948insATATACATGTATACCCATATACATGT ATACATGTATACATGTATACCCATATACATGTATACATGTATACCCATAT ACATGTATACATGTATACCCATATACATGTATACATGTATACATGTATAC CCATATACATGTATACATGTATACATGTATACCCGTATACATGTATACAT GTATACATGTATACCCGTATACATGTATACATGTATACATGTATACCCGT ATACATGTATACATGTATACATGTATACCCGTATACATGTATACATGTAT ACATGTATACCCGTATACATGTATACATGTATACATGTATACCCGTATAC ATGTATACATGTATACATGTATACCCGTATACAT	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TRPM7_chr15_50552158_50691797	50564251	A A	AATAAAAT others(353): Show AATAAAATAAAATAACATAACATAACATAACATAACATAACATAACATAA CATAACATAAAATAACATAAAATAACATAAAATAACATAAAATAACATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAACATAAAATAA CATAAAATAACATAAAATAACATAACATAAAATAACATAACATAAAATAA CATAACATAAAATAACATAACATAAAATAACATAACATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAACATAAAATAA CATAACATAAAATAACATAACATAAAATAACATAACATAAAATAACATAA AATAACATAAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0297 a0002c0003t0003g0298 a0002c0003t0003g0297 a0002c0003t0003g0298	2	352	0.0057	360	c.546 others(379): Show c.5468-2444_5468-2443insGTTATGTTATTTTATGTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATG TTATTTTATGTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATTTTATG TTATTTTATGTTATTTTATGTTATTTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATTTTATTTTAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TRPM7_chr15_50552158_50691797	50564256	A A	AATAAAAT others(353): Show AATAAAATAACATAACATAACATAACATAACATAACATAACATAACATAA AATAACATAAAATAACATAAAATAACATAAAATAACATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAACATAAAATAACATAAAATAA CATAAAATAACATAAAATAACATAACATAAAATAACATAACATAAAATAA CATAACATAAAATAACATAACATAAAATAACATAACATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAACATAAAATAA CATAACATAAAATAACATAACATAAAATAACATAACATAAAATAACATAA AATAACATAAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0306 a0002c0003t0003g0308 a0002c0003t0003g0306 a0002c0003t0003g0308	2	352	0.0057	360	c.546 others(379): Show c.5468-2449_5468-2448insGTTATGTTATTTTATGTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATG TTATTTTATGTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATT TTATGTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATG TTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATTTTAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TRPM7_chr15_50552158_50691797	50564256	A A	AATAAAAT others(353): Show AATAAAATAACATAACATAACATAACATAACATAACATAACATAACATAA CATAAAATAACATAAAATAACATAAAATAACATAAAATAACATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAACATAAAATAACATAAAATAA CATAAAATAACATAAAATAACATAACATAAAATAACATAACATAAAATAA CATAACATAAAATAACATAACATAAAATAACATAACATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAACATAAAATAA CATAACATAAAATAACATAACATAAAATAACATAACATAAAATAACATAA AATAACATAAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0300 a0002c0003t0003g0300	1	352	0.0028	360	c.546 others(379): Show c.5468-2449_5468-2448insGTTATGTTATTTTATGTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATG TTATTTTATGTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATT TTATGTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATT TTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATTTTAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TRPM7_chr15_50552158_50691797	50564261	A A	AATAACAT others(353): Show AATAACATAACATAACATAACATAACATAACATAACATAACATAACATAA CATAACATAAAATAACATAAAATAACATAAAATAACATAAAATAACATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAACATAA AATAACATAAAATAACATAACATAAAATAACATAACATAAAATAACATAA CATAAAATAACATAACATAAAATAACATAACATAAAATAACATAACATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAACATAAAATAA CATAACATAAAATAACATAACATAAAATAACATAACATAAAATAACATAA AATAACATAAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19000.hp1 NA18612.hp1 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0056 a0002c0003t0008 a0002c0003t0056	a0002c0003t0008g0293 a0002c0003t0056g0311 a0002c0003t0008g0293 a0002c0003t0056g0311	2	352	0.0057	360	c.546 others(379): Show c.5468-2454_5468-2453insGTTATGTTATTTTATGTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATGTTATT TTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATTTTATGTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATTTTATG TTATTTTATGTTATTTTATGTTATTTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATGTTAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TUBGCP2_chr10_133273635_133313872	133292343	A A	ACCGTCCG others(353): Show ACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCGTCCGTGTCCCC CGTGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCACGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGT CCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCG TCCGTGTCCCCCGTGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCACGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCCGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	284	0.0035	360	c.121 others(377): Show c.1214+155_1214+156insACACGGGGGACACGGAGGGACATGGGGG ACACGGACGGTGCGTGCTGCCCTCTCCCGTACAGGTAGGGCTCCCCGGGA CACAGGGACACGGAGGGACACGGGGGACACGGACGGTGCGTGCTGCCCTC TCCCGTACAGGTAGGGCTCCCCGGGACACGGGGACACGGGGGACACGGAG GGACATGGGGGACACGGACGGTGCGTGCTGCCCTCTCCCGTACAGGTAGG GCTCCCCGGGACACAGGGACACGGAGGGACACGGGGGACACGGACGGTGC GTGCTGCCCTCTCCCGTACAGGTAGGGCTCCCCGGGACACGGGGACACGG GGGACACGGAGGGACATGGGGGACACGGACGG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UBE2D2_chr5_139556339_139633434	139597067	A A	AAATAATA others(353): Show AAATAATAAACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGGGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATAATAAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	226	0.0044	360	c.25- others(375): Show c.25-3295_25-3294insGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGGGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATAATAATAATAATAAAC	UBE2D2	ENSG00000131508.17	transcript	ENST00000398733.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
ULK4_chr3_41241599_41967103	41891246	G G	GGGGGAAG others(353): Show GGGGGAAGGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGA AGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACGGGA GGGGGAAAGAAGGGACGGGAGGGGGGAAGGAAGGGACAGGAGGGGGAAGG AAGGGACAGGAGGGGGAAAGAAGGGACGGGAGGGGGAAGGAAGGGACGGG AGGGGGAAGGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAG AAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAGGAAGGGACAGG AGGGGGAAGGAAGGGACAGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAG AAGGGACGGGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0025 a0007c0007t0001g0025	1	72	0.0139	360	c.157 others(379): Show c.1577+4271_1577+4272insTCCCGTCCCTTCTTTCCCCCTCCCGT CCCTTCTTTCCCCCTCCTGTCCCTTCCTTCCCCCTCCTGTCCCTTCCTTC CCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGT CCCTTCTTTCCCCCTCCCGTCCCTTCCTTCCCCCTCCCGTCCCTTCCTTC CCCCTCCCGTCCCTTCTTTCCCCCTCCTGTCCCTTCCTTCCCCCTCCTGT CCCTTCCTTCCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTT CCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCG TCCCTTCTTTCCCCCTCCCGTCCCTTCCTTCCCC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
UNC5A_chr5_176805559_176885898	176859301	G G	GGCTGCTA others(353): Show GGCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGC TAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTACA ATGTCCTTGCTAGAGGGCATGGCTGCTAGAATGCCCTTGCTAGAGGGCAT AGCTGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGCCCTTGC TAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTACA ATGTCCTTGCTAGAGGGCATGGCTGCTAGAATGCCCTTGCTAGAGGGCAT AGCTGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGCCCTTGC TAGAGGGCATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0188 a0003c0003t0001g0188	1	268	0.0037	360	c.71- others(375): Show c.71-3281_71-3280insTCCTTGCTAGAGGGCATAGCTGCTAGAATG TCCTTGCTAGAGGGCATAGCTGCTACAATGTCCTTGCTAGAGGGCATGGC TGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAG AGGGCATAGCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATG TCCTTGCTAGAGGGCATAGCTGCTACAATGTCCTTGCTAGAGGGCATGGC TGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAG AGGGCATAGCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATG CCCTTGCTAGAGGGCATAGCTGCTAGAATG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
USH1C_chr11_17488900_17549416	17527112	A A	ACCTGCTC others(353): Show ACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG CTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCC CCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCC CTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC TCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCT CCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCAC CGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCA TGGAGTACTGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	360	0.0056	360	c.497 others(373): Show c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGG GCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGG GGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC AGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC AGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTAC TCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT GACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG TGGGAGGGAGGGAGGGCGGGGGAGCAGG	USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding	5/26			chr11	TogoVar
VCX2_chrX_8164944_8176267	8169723	C C	CCCTCCCT others(353): Show CCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCC TCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACAC ACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0011 a0005c0006t0002g0011	1	115	0.0087	360	c.30 others(369): Show c.308_*309insAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		220		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532871	A A	ACCTCCTC others(353): Show ACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCC TCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCCTCTTCC CCCCTCCCTCCCCACACACCTCCTCTTCCCCCCTCCCTCCCCACACACCT CCTCTTCCCCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCC TCACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCT CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0024 a0024	a0024c0020 a0024c0020	a0024c0020t0003 a0024c0020t0003	a0024c0020t0003g0035 a0024c0020t0003g0035	1	74	0.0135	360	c.87 others(369): Show c.873_*874insAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGGGGAA GAGGAGGTGTGTGGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGA GGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		746		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(353): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	408	0.0025	360	c.53+ others(375): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(353): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	408	0.0025	360	c.53+ others(375): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VWA5B2_chr3_184224585_184247329	184235770	C C	CCATGTGT others(353): Show CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02572.hp1 HG02717.hp2 others(9): Show HG00735.hp1 HG02572.hp1 HG02717.hp2 HG02970.hp1 HG03540.hp1 HG03831.hp1 NA18944.hp2 NA18977.hp1 NA18997.hp1 NA18999.hp1 NA19030.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0002 a0002c0002t0002 a0002c0003t0002	a0002c0002t0002g0006 a0002c0003t0002g0048 a0002c0002t0002g0006 a0002c0003t0002g0048	12	342	0.0351	360	c.110 others(377): Show c.1102-377_1102-376insGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGTCATGT	VWA5B2	ENSG00000145198.15	transcript	ENST00000691901.1	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDR45B_chr17_82609562_82653444	82624354	C C	CGGGTTCA others(353): Show CGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATG GGCACCCGCCACCACATCCAGCTAAGTTTTGTATGTTTAGTAGAGATGAG GTTTCACCACGTTGACCAGGATGCTCTCTATCTCCTGACCTCGTGATCCG CCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGC CCGGCCGACTGTTCTGTCTTGACTGTGACGGTGGCTACACAACTGTTTAC AATGACGGAAATTTATTGAAGTTTTTTTTTTTTTTTGAGATAGAGTCTTG CTCTATCGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAAC CTCTACCTCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG01255.hp1 HG02895.hp1 HG02897.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0011 a0001c0001t0001g0231 a0001c0001t0001g0232	4	382	0.0105	360	c.427 others(377): Show c.427+1034_427+1035insAGGAGGTAGAGGTTGCAGTGAGCCGAGA TCACACCATTGCACTCCAGCCTGGGCGATAGAGCAAGACTCTATCTCAAA AAAAAAAAAAAACTTCAATAAATTTCCGTCATTGTAAACAGTTGTGTAGC CACCGTCACAGTCAAGACAGAACAGTCGGCCGGGCGCAGTGGCTCACGCC TGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGCGGATCACGAGGTCAGG AGATAGAGAGCATCCTGGTCAACGTGGTGAAACCTCATCTCTACTAAACA TACAAAACTTAGCTGGATGTGGTGGCGGGTGCCCATAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATTGCTTGAACCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	5/9			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82624354	C C	CGGGTTCA others(353): Show CGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATG GGCACCCGCCACCACATCCAGCTAAGTTTTGTATGTTTAGTAGAGATGAG GTTTCACCACGTTGACCAGGATGCTCTCTATCTCCTGACCTCGTGATCCG CCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGC CCGGCCGATTGTTCTGTCTTGACTGTGACGGTGGCTACACAACTGTTTAC AATGACGGAAATTTATTGAAGTTTTTTTTTTTTTTTGAGATAGAGTCTTG CTCTATCGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAAC CTCTACCTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG03471.hp1 others(2): Show HG01891.hp2 HG02630.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0340 a0001c0001t0001g0353 a0001c0001t0001g0354 others(2): Show a0001c0001t0001g0340 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0006g0085	5	382	0.0131	360	c.427 others(377): Show c.427+1034_427+1035insAGGAGGTAGAGGTTGCAGTGAGCCGAGA TCACACCATTGCACTCCAGCCTGGGCGATAGAGCAAGACTCTATCTCAAA AAAAAAAAAAAACTTCAATAAATTTCCGTCATTGTAAACAGTTGTGTAGC CACCGTCACAGTCAAGACAGAACAATCGGCCGGGCGCAGTGGCTCACGCC TGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGCGGATCACGAGGTCAGG AGATAGAGAGCATCCTGGTCAACGTGGTGAAACCTCATCTCTACTAAACA TACAAAACTTAGCTGGATGTGGTGGCGGGTGCCCATAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATTGCTTGAACCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	5/9			chr17	TogoVar
WDR81_chr17_1719704_1743585	1739628	A A	AGCCTGAT others(353): Show AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC GGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAGGCAGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG03471.hp2 others(2): Show HG02622.hp2 HG02647.hp2 HG03471.hp2 NA19030.hp1 NA20300.hp1	a0001 a0019 a0001 a0019	a0001c0013 a0001c0069 a0019c0056 a0001c0013 a0001c0069 a0019c0056	a0001c0013t0003 a0001c0069t0003 a0019c0056t0003 a0001c0013t0003 a0001c0069t0003 a0019c0056t0003	a0001c0013t0003g0002 a0001c0013t0003g0057 a0001c0069t0003g0002 others(1): Show a0001c0013t0003g0002 a0001c0013t0003g0057 a0001c0069t0003g0002 a0019c0056t0003g0002	5	431	0.0116	360	c.19 others(371): Show c.1943_*1944insGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAGGCGGCCTGATGCGGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAGGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1044		chr17	TogoVar

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