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
SYK_chr9_90796819_90903549	90884880	T T	TGTGTGTA others(352): Show TGTGTGTATATACATATACACACATATGTGTGTATATACATATATACATA TATACATATATACATATATACACATATGTGTACATATGTGTATATATACA TATATATACACATATATATGTATATATACACATATGTGTACATATGTGTA TATATACATATATACACATATATATGTATATATACACATATGTGAATATA TATGTGTTATATATACACATATGTGTATATGTATATATGTATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATATAACA CATATATATACACATATGTGTATATATACATATATACATATACACATATG TGTATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG00733.hp2 others(11): Show HG00597.hp2 HG00673.hp2 HG00733.hp2 HG02523.hp2 HG03688.hp2 HG03942.hp1 NA18942.hp2 NA18949.hp2 NA18951.hp2 NA18955.hp2 NA18977.hp2 NA18992.hp1 NA18998.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0001c0001t0020 a0001c0002t0003 a0001c0002t0016 a0001c0002t0025 a0001c0010t0016	a0001c0001t0002g0103 a0001c0001t0002g0201 a0001c0001t0002g0305 others(11): Show a0001c0001t0002g0103 a0001c0001t0002g0201 a0001c0001t0002g0305 a0001c0001t0003g0074 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0204 a0001c0001t0007g0341 a0001c0001t0016g0070 a0001c0001t0020g0145 a0001c0002t0003g0280 a0001c0002t0016g0076 a0001c0002t0025g0069 a0001c0010t0016g0190	14	376	0.0372	359	c.158 others(378): Show c.1582-2869_1582-2868insGTGTGTATATACATATACACACATAT GTGTGTATATACATATATACATATATACATATATACATATATACACATAT GTGTACATATGTGTATATATACATATATATACACATATATATGTATATAT ACACATATGTGTACATATGTGTATATATACATATATACACATATATATGT ATATATACACATATGTGAATATATATGTGTTATATATACACATATGTGTA TATGTATATATGTATATATACACATATGTGTATATATACATATATACATA TACACATATGTGTATATATAACACATATATATACACATATGTGTATATAT ACATATATACATATACACATATGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TGTGTGTA others(352): Show TGTGTGTATATACATATACACACATATGTGTGTATATACATATATACATA TATACATATATACATATATACACATATGTGTACATATGTGTATATATACA TATATATACACATATATATGTATATATACACATATGTGTACATATGTGTA TATATACATATATACACATATATATGTGTATATACACATATGTGAATATA TATGTGTTATATATACACATATGTGTATATGTATATATGTATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATATAACA CATATATATACACATATGTGTATATATACATATATACATATACACATATG TGTATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	376	0.0027	359	c.158 others(378): Show c.1582-2869_1582-2868insGTGTGTATATACATATACACACATAT GTGTGTATATACATATATACATATATACATATATACATATATACACATAT GTGTACATATGTGTATATATACATATATATACACATATATATGTATATAT ACACATATGTGTACATATGTGTATATATACATATATACACATATATATGT GTATATACACATATGTGAATATATATGTGTTATATATACACATATGTGTA TATGTATATATGTATATATACACATATGTGTATATATACATATATACATA TACACATATGTGTATATATAACACATATATATACACATATGTGTATATAT ACATATATACATATACACATATGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYTL3_chr6_158645054_158769871	158704814	A A	AGTGACAG others(352): Show AGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCTGGGGAC AGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGG CAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGG GCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCGG GGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCG GGGCAGGGTGACAGTGAGGGCTATAAGGCCACATAGGGCAGGAGGGACCT GGGGACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGAC CCAGGGCAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0273 a0003c0004t0001g0273	1	292	0.0034	359	c.395 others(376): Show c.395-2374_395-2373insTGGGGACAGGGTGACAGTGAGGGCTGTA AGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAGGGCTGT AAGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAGGGCTG TAAGGCCACATAGGGCAGGAGGGACCCGGGGCAGGGTGACAGTGAGGGCT GTAAGGCCACATAGGGCAGGAGGGACCCGGGGCAGGGTGACAGTGAGGGC TATAAGGCCACATAGGGCAGGAGGGACCTGGGGACAGGGTGACAGTGAGG GCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAG GGCTGTAAGGCCACATAGGGCAGGAGGGACC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAFA4_chr3_68726766_68937547	68781188	C C	CAAGAAAG others(352): Show CAAGAAAGGTCCTAAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	316	0.0032	359	c.131 others(378): Show c.131-28171_131-28170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCC GCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGACTTAGGACCTTTCTT	TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5			chr3	TogoVar
TBC1D22A_chr22_46757650_47180693	46858982	T T	TAGTGCCG others(352): Show TAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGC GCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCG CGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCC GCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGT CCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGAGG TCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAG GTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAG AGGTCCGCGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	112	0.0089	359	c.638 others(378): Show c.638-19666_638-19665insCGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATC CTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAA TCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAG AATCCTTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCA GAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCCTTTTTTGATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859172	T T	TGATAGAG others(352): Show TGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTT TCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTT TTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCC TTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATC CTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAG AATCCTTTTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	112	0.0089	359	c.638 others(378): Show c.638-19461_638-19460insTGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAA TCCTTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAG AATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGAC CAGAATCCTTTTCGATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860348	T T	TTTTCCAT others(352): Show TTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATC GTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAG AATCCTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACC AGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGAC CAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGG ACCAGAATCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0065 a0001c0001t0014g0065	1	112	0.0089	359	c.638 others(378): Show c.638-18302_638-18301insCCATAGAGGTCCGCGCAGTGCTGTGC CCCTTCCCGGGACCAGAATCGTTTTCCATAGAGGTCCGCGCAGTGCCGTG CCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCTG TGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCT GTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTG CTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGT GCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCA GTGCTGTGCCCCTTCCCGGGACCAGAATCCTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF12_chr15_56913644_57294853	57170712	A A	ATATAATA others(352): Show ATATAATATATAATATATAATATATATTATATAAAATATATATATATAAT ATATAATATATAATATATATTATATAAAATATATATATATAATATATTAT ATATAATATATATTATATATATTTATATATAATATATATATATAATATAT ATAATATATATAATATATATTATATATATATTATATATAATATATATATT ATATATATATTATATATAATATATATATTATATATTATATATAATATATA TATAATATATATATTATATATAATATATATAATATATATTATATATAATA TAATATAATATATATATTATATATATTATTATATATATTATATATAATAT ATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0267 a0001c0001t0009g0267	1	330	0.0030	359	c.390 others(376): Show c.390+4246_390+4247insTATAATATATAATATATAATATATATTA TATAAAATATATATATATAATATATAATATATAATATATATTATATAAAA TATATATATATAATATATTATATATAATATATATTATATATATTTATATA TAATATATATATATAATATATATAATATATATAATATATATTATATATAT ATTATATATAATATATATATTATATATATATTATATATAATATATATATT ATATATTATATATAATATATATATAATATATATATTATATATAATATATA TAATATATATTATATATAATATAATATAATATATATATTATATATATTAT TATATATATTATATATAATATATATATATAT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	6/20			chr15	TogoVar
TCF25_chr16_89868592_89916379	89907833	C C	CCCAGCTC others(352): Show CCCAGCTCCCACCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCTCCTC CCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCC CACCTCCCTCCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCC ACCTCCCAGCTCCAACCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCA CCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCTC CTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCCCAGCTCCCACC TCTCTCCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCT CCCAGCTCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	300	0.0033	359	c.179 others(376): Show c.1799+511_1799+512insCCAGCTCCCACCTCCCAGTTCCCACCTC CCAGCTCCCACCTCCCTCCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCC CAGTTTCCACCTCCCAGCTCCCACCTCCCTCCTCCCTCCTCCCAGCTCCC GGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCACCTCCCA ACTCCCTCCTCCCACCCCCCACCTCCCACCTCCCAGTTTCCACCTCCCAG CTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCACC TCCCACCTCCCAGCTCCCACCTCTCTCCTCCCTCCTCCCAGCTCCCGGCT CCCACCTCCCAGTTTCCACCTCCCAGCTCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17			chr16	TogoVar
TERT_chr5_1248167_1300068	1273520	A A	ACACATCA others(352): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC TGTGACCGATCACCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACTGCCAT CCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0347 a0001c0001t0002g0347	1	392	0.0026	359	c.228 others(378): Show c.2287-1241_2287-1240insGTGACTGTGGATGGCAGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGGCC others(352): Show CCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGATCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02647.hp1 others(3): Show HG01243.hp1 HG02257.hp1 HG02647.hp1 HG02723.hp1 HG03579.hp1 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0009 a0003c0024 a0003c0003 a0003c0009 a0003c0024	a0003c0003t0001 a0003c0009t0001 a0003c0024t0001 a0003c0003t0001 a0003c0009t0001 a0003c0024t0001	a0003c0003t0001g0156 a0003c0009t0001g0021 a0003c0009t0001g0023 others(3): Show a0003c0003t0001g0156 a0003c0009t0001g0021 a0003c0009t0001g0023 a0003c0009t0001g0024 a0003c0009t0001g0025 a0003c0024t0001g0108	6	206	0.0291	359	c.443 others(378): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCTGATCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGGCC others(352): Show CCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCCTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19001.hp2 HG00558.hp2 NA19001.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0017c0034 a0001c0001 a0017c0034	a0001c0001t0001 a0017c0034t0001 a0001c0001t0001 a0017c0034t0001	a0001c0001t0001g0206 a0017c0034t0001g0192 a0001c0001t0001g0206 a0017c0034t0001g0192	2	206	0.0097	359	c.443 others(378): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGAGGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGGCC others(352): Show CCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp2 HG00738.hp1 others(40): Show HG00140.hp2 HG00621.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01517.hp2 HG02056.hp2 HG02074.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03834.hp2 HG04199.hp1 NA18747.hp1 NA18906.hp1 NA18981.hp1 NA18985.hp2 NA18986.hp2 NA19000.hp1 NA19043.hp1 NA19066.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0012 a0013	a0001c0001 a0002c0002 a0002c0016 others(6): Show a0001c0001 a0002c0002 a0002c0016 a0002c0029 a0003c0003 a0007c0007 a0007c0014 a0012c0018 a0013c0039	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(7): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0016t0001 a0002c0029t0001 a0003c0003t0001 a0007c0007t0002 a0007c0014t0002 a0012c0018t0001 a0013c0039t0001	a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0121 others(40): Show a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0121 a0001c0001t0001g0163 a0001c0001t0001g0164 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0004g0176 a0002c0016t0001g0081 a0002c0016t0001g0096 a0002c0029t0001g0185 a0003c0003t0001g0126 a0003c0003t0001g0154 a0007c0007t0002g0003 a0007c0007t0002g0004 a0007c0007t0002g0005 a0007c0007t0002g0006 a0007c0014t0002g0007 a0007c0014t0002g0008 a0007c0014t0002g0009 a0012c0018t0001g0168 a0012c0018t0001g0182 a0013c0039t0001g0124	43	206	0.2087	359	c.443 others(378): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGGCC others(352): Show CCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCTGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	206	0.0049	359	c.443 others(378): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCCCAGATGGGGCGGCTGGCAGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THEG_chr19_356747_381026	377283	C C	CCCCGTGT others(352): Show CCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTC CCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCA GCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0235	1	370	0.0027	359	c.-13 others(370): Show c.-1314_-1313insAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGG GGAGAGGCTGGGTGGGGCACACGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1258		chr19	TogoVar
THEMIS_chr6_127703200_127906058	127746919	A A	ATATTATT others(352): Show ATATTATTATATAATTATATTATATATAATTATATATTATTATATAATTA TATTATATATAATTATATATTATTATATAATTATATTATATATAATTATA TATTATTATATAATTATATTATATATAATTATATATTATTATATAATTAT ATTATATATAATTATATATTATTATATAATTATATTATATATAATTATAT ATTATTATATAATTATATTATATATAATTATATATTATTATATAATTATA TTATATATAATTATATATTATTATATAATTATATTATATATAATTATATA TTATTATATAATTATATTATATATAATTATATATTATTATATAATTATAT TATATATAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	223	0.0045	359	c.175 others(380): Show c.1759-27097_1759-27096insATTATATATAATATAATTATATAA TAATATATAATTATATATAATATAATTATATAATAATATATAATTATATA TAATATAATTATATAATAATATATAATTATATATAATATAATTATATAAT AATATATAATTATATATAATATAATTATATAATAATATATAATTATATAT AATATAATTATATAATAATATATAATTATATATAATATAATTATATAATA ATATATAATTATATATAATATAATTATATAATAATATATAATTATATATA ATATAATTATATAATAATATATAATTATATATAATATAATTATATAATAA TATATAATTATATATAATATAATTATATAATAATA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(352): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCAGA GAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0428 a0001c0001t0001g0428	1	444	0.0023	359	c.227 others(378): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTCTCTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM120A_chr7_75981831_75999595	75988765	A A	AGAAGGCC others(352): Show AGAAGGCCGGGTAGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCAGGTGGGGGGGTGGAGG GGAAGAAGGCCGGGTAGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGCTGG AGGGGAAGGCCAGGTGGGGGGCTGGAGGGGAAGGCCAGGTGGGGGGGTGG AGGGGAAGAAGGCCGGGTAGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGC TGGAGGGGAAGGCCAGGTGGGGGGGTGGAGGGGAAGAAGGCCGGGTAGGG GGGTGGAGGAGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGG GGGTGGAGGG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	368	0.0027	359	c.378 others(374): Show c.378-250_378-249insCCCTCCACCCCCCCACCCGGCCTTCCCCTC CACCCCCCCACCCGGCCTTCTCCTCCACCCCCCTACCCGGCCTTCTTCCC CTCCACCCCCCCACCTGGCCTTCCCCTCCAGCCCCCCACCCGGCCTTCTC CTCCACCCCCCTACCCGGCCTTCTTCCCCTCCACCCCCCCACCTGGCCTT CCCCTCCAGCCCCCCACCTGGCCTTCCCCTCCAGCCCCCCACCCGGCCTT CTCCTCCACCCCCCTACCCGGCCTTCTTCCCCTCCACCCCCCCACCTGGC CTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTCCACCCCCCCACCCGGC CTTCTCCTCCACCCCCCTACCCGGCCTTC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM14A_chr6_52666113_52691588	52672314	C C	CAAGAGAA others(352): Show CAAGAGAAGATCGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAAATACA AAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	426	0.0024	359	c.-17 others(376): Show c.-17+1085_-17+1086insCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAA ATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTG CAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAGAAGATCGCAGG	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMX4_chr20_7972346_8024761	8013046	T T	TAAGAATT others(352): Show TAAGAATTTAGAAACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	346	0.0029	359	c.177 others(376): Show c.177-2732_177-2731insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCAGTTTCTAAATTCTT	TMX4	ENSG00000125827.9	transcript	ENST00000246024.7	protein_coding	1/7			chr20	TogoVar
TOP1MT_chr8_143304324_143339880	143321641	C C	CCACACAC others(352): Show CCACACACACGCACGCCACGCACGCACGCCACGCACACATGCCACACACG CACGCCACACACAGGTATGCCACACACGCACGCCATAAACACAGGCATGC CATACACACGCACGCCACACACGCACGCCACACACACACACGCTACACAC ACACGCACGCTACACACACACGCCACACACACGCCACACACACAGGCACG CCACACACACACAGGCACGCCACACGCACGCCACACACGCATGCCACACA CACGCACGCCACACACGCATGCCACACACAGCCACGCCACACACACACGC CACACACACACAGGCACGCCACACACGCACGCCACACACACGCATGCCAC ACACACGCCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19007.hp1 NA19063.hp2 others(1): Show HG00597.hp2 NA19007.hp1 NA19063.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0248 a0001c0001t0001g0282 a0001c0001t0001g0033 a0001c0001t0001g0248 a0001c0001t0001g0282	4	430	0.0093	359	c.961 others(374): Show c.961-256_961-255insTGGCGTGTGTGTGGCATGCGTGTGTGTGGC GTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGTGGC TGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGTGTGGCATGCGTGTGTGG CGTGCGTGTGGCGTGCCTGTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGT GTGTGTGGCGTGTGTGTGTAGCGTGCGTGTGTGTGTAGCGTGTGTGTGTG TGGCGTGCGTGTGTGGCGTGCGTGTGTATGGCATGCCTGTGTTTATGGCG TGCGTGTGTGGCATACCTGTGTGTGGCGTGCGTGTGTGGCATGTGTGCGT GGCGTGCGTGCGTGGCGTGCGTGTGTGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRAPPC10_chr21_44007309_44111552	44023337	T T	TGTAACCA others(352): Show TGTAACCATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	254	0.0039	359	c.68- others(374): Show c.68-8742_68-8741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCGTAACCATTTTC	TRAPPC10	ENSG00000160218.13	transcript	ENST00000291574.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
TULP4_chr6_158307465_158516828	158491456	T T	TCCCTTCC others(352): Show TCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0073 a0001c0022t0073	a0001c0022t0073g0220 a0001c0022t0073g0220	1	268	0.0037	359	c.163 others(378): Show c.1631+1724_1631+1725insCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	9/13			chr6	TogoVar
WDPCP_chr2_63114559_63593477	63575461	A A	ATATACAC others(352): Show ATATACACTGTATATACAGTGTATACACTGTATATACAGTATATATACTG TATATACAGTGTATGCACTGTATATACAGTATATATACTGTATATACAGT GTATGCACTGTATATACAGTATATACTGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTAT GCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAGTATATA CAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTATATAC AGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACT GTATATACAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	216	0.0046	359	c.75+ others(376): Show c.75+12735_75+12736insCTGTATATACAGTGCATACACTGTATAT ACTGTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACA CTGTATATACTGTATATACAGTGCATACACTGTATATACTGTATATACAG TGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACTGT ATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTA TATACAGTATATACTGTATATACAGTGCATACACTGTATATACAGTATAT ATACTGTATATACAGTGCATACACTGTATATACAGTATATATACTGTATA TACAGTGTATACACTGTATATACAGTGTATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
ZC3HAV1_chr7_139038515_139114720	139101478	G G	GCCTTTGC others(352): Show GCCTTTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCTGCACTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCG TCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAAT GAGAAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTC TCCGACCGGCAGCCACTCCGTCAGGGAGGGAGGTGGGGGTCAGCCCGGCC AGCCGCCCCGCCCGGGAGGGAGGTGGGAGTCAGTCCCTGCCCGGCCGCCG CCCTGTCCGGAGGGTGGGGGGCGCCTCTGCCCAGCCGCCCCTTCTGGGAA GTGAGGAGCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG03209.hp1 others(3): Show HG02615.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 NA19030.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0002 a0002c0001 a0002c0012 others(2): Show a0001c0002 a0002c0001 a0002c0012 a0006c0007 a0013c0035	a0001c0002t0002 a0001c0002t0046 a0002c0001t0069 others(3): Show a0001c0002t0002 a0001c0002t0046 a0002c0001t0069 a0002c0012t0015 a0006c0007t0058 a0013c0035t0014	a0001c0002t0002g0310 a0001c0002t0046g0308 a0002c0001t0069g0119 others(3): Show a0001c0002t0002g0310 a0001c0002t0046g0308 a0002c0001t0069g0119 a0002c0012t0015g0309 a0006c0007t0058g0307 a0013c0035t0014g0101	6	314	0.0191	359	c.308 others(376): Show c.308+7545_308+7546insGGCTCCTCACTTCCCAGAAGGGGCGGCT GGGCAGAGGCGCCCCCCACCCTCCGGACAGGGCGGCGGCCGGGCAGGGAC TGACTCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCTGACCCCCAC CTCCCTCCCTGACGGAGTGGCTGCCGGTCGGAGACGCTCCTCACTTCCCA GACGGGGCGGCTGCCGGGCGGAGGGGCTTCTCATTTCTCAGACGGGGCGG CTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCG GAGGGGCTCCTCACTTCTCAGACAGTGCAGCCGGGCAGAGACGCTCCTCA CCTCCCAGACGGGGTCGCGGCCGGGCAAAGG	ZC3HAV1	ENSG00000105939.14	transcript	ENST00000242351.10	protein_coding	1/12			chr7	TogoVar
ZKSCAN4_chr6_28236697_28257269	28257213	T T	TAAGAAAG others(352): Show TAAGAAAGGAATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATG GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0019 a0002c0002t0005g0019	1	420	0.0024	359	c.-52 others(370): Show c.-5234_-5233insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTCATTCCTTTCTT	ZKSCAN4	ENSG00000187626.9	transcript	ENST00000377294.3	protein_coding		4945		chr6	TogoVar
ZNF16_chr8_144925358_144955880	144946606	T T	TGGGCCCG others(352): Show TGGGCCCGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCCTGTACCC TGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCTGCTGTGGGGCTGTG TCCTGCTGTGGGCCCGTGTCCTGCTGTGGGGCCTGTGTCCTGCTGTGGGG CCTGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCTGCTGT GGGGCTGTGTCCTGCTGTGGGCCCGTGTCCTGCTGTGGGCCTGTGTCCTG CTGTGGGGCCTGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTAC CCTGCTGTGGGCCTGTGTCCTGCTGTTGGGCCTGTGTCCTGCTGTGGGGC TGTGTCCTGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG01934.hp1 others(13): Show HG00438.hp1 HG00639.hp2 HG01934.hp1 HG01943.hp2 HG02074.hp1 NA18945.hp2 NA18953.hp1 NA18956.hp2 NA18993.hp2 NA19007.hp1 NA19010.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0011c0015 a0001c0002 a0011c0015	a0001c0002t0001 a0011c0015t0001 a0001c0002t0001 a0011c0015t0001	a0001c0002t0001g0004 a0001c0002t0001g0063 a0001c0002t0001g0064 others(9): Show a0001c0002t0001g0004 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0194 a0011c0015t0001g0072	16	404	0.0396	359	c.-9- others(372): Show c.-9-392_-9-391insCCAGGACACAGCCCCACAGCAGGACACAGGCC CAACAGCAGGACACAGGCCCACAGCAGGGTACAGGCCCACAGAAGGGTAT GGCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAGGCCCACAGCAGG ACACGGGCCCACAGCAGGACACAGCCCCACAGCAGGGTACAGGCCCACAG AAGGGTATGGCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAGGCCC CACAGCAGGACACGGGCCCACAGCAGGACACAGCCCCACAGCAGGGTACA GGCCCACAGAAGGGTATGGCCCACAGCAGGGTACAGGCCCCACAGCAGGA CACAGGCCCACAGCAGGACACGGGCCC	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF365_chr10_62369369_62407450	62371316	A A	ATATCATA others(352): Show ATATCATATATATGATATATATCTCATATATATCATATATATGATATATA TCTCATATATATCATATATATGATATATATCTCATATATATATCATATAT ATGATATATATCTCATATATATATCATATATATGATATATATCTCATATA TATATCATATATATGATATATATCTCATATATATATCATATATATGATAT ATATCTCATATATATATCATATATATGATATATATCTCATATATATATCA TATATATGATATATATCTCATATATATATCATATATATGATATATATCTC ATATATATATCATATATATGATATATATCTCATATATATATCATATATAT GATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02572.hp2 HG02818.hp1 others(1): Show HG01106.hp2 HG02572.hp2 HG02818.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	4	350	0.0114	359	c.-31 others(370): Show c.-3156_-3155insTATCATATATATGATATATATCTCATATATATCA TATATATGATATATATCTCATATATATCATATATATGATATATATCTCAT ATATATATCATATATATGATATATATCTCATATATATATCATATATATGA TATATATCTCATATATATATCATATATATGATATATATCTCATATATATA TCATATATATGATATATATCTCATATATATATCATATATATGATATATAT CTCATATATATATCATATATATGATATATATCTCATATATATATCATATA TATGATATATATCTCATATATATATCATATATATGATATATATCTCATAT ATATATCATATATATGATATATATC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3052		chr10	TogoVar
ZNF778_chr16_89212703_89242141	89224967	T T	TAAGATGC others(352): Show TAAGATGCATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18995.hp1 NA18995.hp2 others(1): Show NA18945.hp2 NA18995.hp1 NA18995.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016	a0001c0001t0002g0146 a0001c0001t0004g0035 a0001c0001t0016g0035 others(1): Show a0001c0001t0002g0146 a0001c0001t0004g0035 a0001c0001t0016g0035 a0001c0001t0016g0119	4	434	0.0092	359	c.328 others(374): Show c.328+179_328+180insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGATGCATTCTGG	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCB11_chr2_168915781_169036324	168975400	T T	TATAAATA others(353): Show TATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATATA TATATTTATATATTTATAGATAAATATATAAATATATATATTTATATATT TATAGATAAATATATAAATATATAAATATTTATAGATAAATATATAAATA TATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATTTA TCTATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0212 a0001c0002t0005g0212	1	306	0.0033	360	c.130 others(379): Show c.1308+1176_1308+1177insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATAGATAAATATATAAATAT TTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTTAT CTATAAATATTTATATATTTATATATTTATCTATAAATATATAAATATAT ATATTTATATATTTATCTATAAATATATAAATATATATATATTTATATAT TTATCTATAAATATATAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1289765	T T	TCCCGTGT others(353): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCCCGTGTGTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	295	0.0034	360	c.37 others(371): Show c.3798_*3799insGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG GGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACG GGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCA GAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGG GGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGG GGACGGAGCAGAGACACGGGGGACGGGGCAGACACACGGGGGACGGAGCA GACACGGGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2625		chr1	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(353): Show GGAGGGAGAGGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0008 a0012c0029t0008	a0012c0029t0008g0046 a0012c0029t0008g0046	1	354	0.0028	360	c.523 others(379): Show c.523-13463_523-13462insAGAGGGAGACGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(353): Show GGAGGGAGAGGGAGAGGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0317 a0005c0008t0003g0317	1	354	0.0028	360	c.523 others(379): Show c.523-13463_523-13462insAGAGGGAGAGGGAGACGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100011336	G G	GGGAAGGA others(353): Show GGGAAGGAAAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAA GGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGA GGGAAGGAAAGGAGGAGGGACGGGAGGGAGAGAAGGAAAGGAGGGATGGG AGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0006 a0006	a0006c0060 a0006c0060	a0006c0060t0014 a0006c0060t0014	a0006c0060t0014g0025 a0006c0060t0014g0025	1	228	0.0044	360	c.259 others(381): Show c.2592-13748_2592-13747insTCTCCCTCCCTCCCATCCCTCCTT TCCTTCTCTCCCTCCCGTCCCTCCTCCTTTCCTTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCC CTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCC CATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCT CCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCC TTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS19_chr5_129455298_129743683	129578103	C C	CATATGCA others(353): Show CATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATA TGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTA CATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATG CATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACG TATACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATA CCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTA TATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACG TACATATACCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01934.hp2 HG02165.hp2 others(4): Show HG01261.hp1 HG01934.hp2 HG02165.hp2 HG03834.hp2 HG04228.hp1 NA18957.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0001 a0002c0002t0006	a0001c0001t0001g0138 a0001c0001t0001g0179 a0001c0001t0001g0192 others(4): Show a0001c0001t0001g0138 a0001c0001t0001g0179 a0001c0001t0001g0192 a0001c0001t0001g0196 a0002c0002t0001g0077 a0002c0002t0001g0100 a0002c0002t0006g0107	7	226	0.0310	360	c.137 others(381): Show c.1373-18118_1373-18117insGTACGTATACGTACATATACCTAT ATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGT ACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACAT ATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCAT GTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTAT ACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCT ATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATAT GTACGTATACGTACATATACCTATATGCATGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS7_chr15_78754206_78816464	78785998	T T	TGGCTCAC others(353): Show TGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCA GGCTCCTGAATAGCTGGGATTACAGGCGTCTGCCACCATGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGT CTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAAAAT GGAATTACAGGCATGAGCCACTGTGTCCGGCCTGCCATCTTGAATTCTTC ATATCTTTGACCTTGTGCCTTGTAAGCGAGGTCTATTTATTTTATGATTA TTATTATTTTTTGAGATGGAGTCTCACTCTGGCACAGGCTGGAGTGCAGC GGCGTAATTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(67): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02109.hp2 HG02622.hp2 HG02698.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18964.hp2 NA18966.hp1 NA18981.hp2 NA18992.hp2 NA18997.hp2 NA19002.hp1 NA19068.hp2 NA19081.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0005 a0006 a0008 others(16): Show a0005 a0006 a0008 a0010 a0021 a0023 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0059 a0063	a0005c0005 a0005c0047 a0005c0108 others(19): Show a0005c0005 a0005c0047 a0005c0108 a0006c0007 a0006c0119 a0008c0008 a0010c0113 a0021c0023 a0023c0046 a0036c0107 a0037c0110 a0038c0109 a0039c0111 a0040c0112 a0041c0118 a0042c0117 a0043c0116 a0044c0115 a0045c0114 a0046c0121 a0059c0074 a0063c0080	a0005c0005t0002 a0005c0005t0011 a0005c0047t0002 others(20): Show a0005c0005t0002 a0005c0005t0011 a0005c0047t0002 a0005c0108t0002 a0006c0007t0001 a0006c0119t0001 a0008c0008t0002 a0010c0113t0003 a0021c0023t0001 a0023c0046t0001 a0036c0107t0002 a0037c0110t0002 a0038c0109t0002 a0039c0111t0001 a0040c0112t0001 a0041c0118t0001 a0042c0117t0001 a0043c0116t0001 a0044c0115t0001 a0045c0114t0001 a0046c0121t0001 a0059c0074t0012 a0063c0080t0002	a0005c0005t0002g0007 a0005c0005t0002g0009 a0005c0005t0002g0116 others(61): Show a0005c0005t0002g0007 a0005c0005t0002g0009 a0005c0005t0002g0116 a0005c0005t0002g0118 a0005c0005t0002g0119 a0005c0005t0002g0120 a0005c0005t0002g0121 a0005c0005t0002g0122 a0005c0005t0002g0123 a0005c0005t0002g0124 a0005c0005t0002g0127 a0005c0005t0002g0137 a0005c0005t0002g0138 a0005c0005t0002g0143 a0005c0005t0002g0144 a0005c0005t0002g0173 a0005c0005t0002g0239 a0005c0005t0002g0240 a0005c0005t0011g0117 a0005c0047t0002g0139 a0005c0047t0002g0145 a0005c0108t0002g0125 a0006c0007t0001g0002 a0006c0007t0001g0008 a0006c0007t0001g0115 a0006c0007t0001g0126 a0006c0007t0001g0161 a0006c0007t0001g0162 a0006c0007t0001g0163 a0006c0007t0001g0164 a0006c0007t0001g0169 a0006c0007t0001g0170 a0006c0007t0001g0241 a0006c0119t0001g0171 a0008c0008t0002g0112 a0008c0008t0002g0128 a0008c0008t0002g0129 a0008c0008t0002g0130 a0008c0008t0002g0131 a0008c0008t0002g0133 a0008c0008t0002g0134 a0008c0008t0002g0135 a0008c0008t0002g0136 a0008c0008t0002g0140 a0008c0008t0002g0146 a0008c0008t0002g0243 a0010c0113t0003g0141 a0021c0023t0001g0004 a0021c0023t0001g0043 a0023c0046t0001g0153 a0023c0046t0001g0155 a0036c0107t0002g0142 a0037c0110t0002g0147 a0038c0109t0002g0113 a0039c0111t0001g0150 a0040c0112t0001g0149 a0041c0118t0001g0132 a0042c0117t0001g0166 a0043c0116t0001g0160 a0044c0115t0001g0148 a0045c0114t0001g0045 a0046c0121t0001g0044 a0059c0074t0012g0354 a0063c0080t0002g0305	70	380	0.1842	360	c.132 others(379): Show c.1322+2232_1322+2233insGAAATTACGCCGCTGCACTCCAGCCT GTGCCAGAGTGAGACTCCATCTCAAAAAATAATAATAATCATAAAATAAA TAGACCTCGCTTACAAGGCACAAGGTCAAAGATATGAAGAATTCAAGATG GCAGGCCGGACACAGTGGCTCATGCCTGTAATTCCATTTTTTGGGAGGCC GAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAC ATGGTGAAACCCCCTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGG TGGCAGACGCCTGTAATCCCAGCTATTCAGGAGCCTGAGGCAGGAGAATT GCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCC	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	8/23			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1326843	C C	CCAGCGCC others(353): Show CCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCA CTGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTC CCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCCCAGCG CCTCCCCACGGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACTGCCC AGCGCCTCCCCACGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCACT GCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCCC CACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCC TCCCCACTGCA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	106	0.0094	360	c.107 others(381): Show c.1077+36184_1077+36185insTGCAGTGGGGAGGCGCTGGGCAGT GGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGTG CCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGC TGTGCCGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAG GCGCTGGGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTGGGCCGTGG GGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCA GTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTG GGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(353): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACA CGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTG TACACACACACGTATATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACACGTATATACGTATACGTGTACACACACATA CACGTATATACGTATACGTGTACACACATATACACGTCTACGTGTACACA CATATACACGTCTACGTGTACACACATATACACGTATACGTCTACGTGTA CACACATATAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0045 a0003c0008t0045	a0003c0008t0045g0010 a0003c0008t0045g0010	1	169	0.0059	360	c.48- others(377): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACACGTATATACGT ATACGTGTACACACACATACACGTATATACGTATACGTGTACACACATAT ACACGTCTACGTGTACACACATATACACGTCTACGTGTACACACATATAC ACGTATACGTCTACGTGTACACACATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(353): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACA CGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTG TACACACACACGTATATATACGTATACGTGTACACACACACGTATATATA CGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACA CGTATATACGTATACGTGTACACACACATACACGTATATACGTATACGTG TACACACATATACACGTCTACGTGTACACACATATACACGTCTACGTGTA CACACATATAC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0012 a0004c0006t0012	a0004c0006t0012g0011 a0004c0006t0012g0011	1	169	0.0059	360	c.48- others(377): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATATACGTATACGTGTACACACACACGTATATACGT ATACGTGTACACACACACACGTATATACGTATACGTGTACACACACATAC ACGTATATACGTATACGTGTACACACATATACACGTCTACGTGTACACAC ATATACACGTCTACGTGTACACACATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581421	T T	TATACGTA others(353): Show TATACGTATACGTGTACACACATATATATACACGTATATATACGTATACG TGTACACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACATACACGTATATACGTATACGTGTACACACACATACA CGTATATACGTATACGTGTACACACACATACACGTATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATAC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0075 a0001c0001t0116g0075	1	169	0.0059	360	c.48- others(377): Show c.48-70577_48-70576insTACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACATACACGTATATACGTA TACGTGTACACACACATACACGTATATACGTATACGTGTACACACACATA CACGTATACACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATACACGTATACGTGTACACACATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AK3_chr9_4704556_4746202	4713947	C C	CACACCTC others(353): Show CACACCTCCACATATACACGCCTCCACATATACACGCCTCCACATATACA CACCTCCACATATACGCCTACACATATACGCCTACACATATACACCTCCA CATATACACCTCCACATATACACGCCTCCACATATACACGCCTCCACATA TACACACCTACACATATACACCTACACATATACACACCTACACATATACA CGCCTACACATACACGCCTACACATATACGCCTACACGTATACACCTACA CGTATACACCTCCACATATACACACCTCCACATATACACACCTCCACATA TACACACCTCCACATATACACACCTCCACATATACACCTCCACATATACA CCTCCACATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0027 a0001c0001t0011 a0001c0001t0027	a0001c0001t0011g0018 a0001c0001t0027g0239 a0001c0001t0011g0018 a0001c0001t0027g0239	2	462	0.0043	360	c.564 others(375): Show c.564-852_564-851insATATGTGGAGGTGTATATGTGGAGGTGTAT ATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATAT GTGGAGGTGTGTATATGTGGAGGTGTATACGTGTAGGTGTATACGTGTAG GCGTATATGTGTAGGCGTGTATGTGTAGGCGTGTATATGTGTAGGTGTGT ATATGTGTAGGTGTATATGTGTAGGTGTGTATATGTGGAGGCGTGTATAT GTGGAGGCGTGTATATGTGGAGGTGTATATGTGGAGGTGTATATGTGTAG GCGTATATGTGTAGGCGTATATGTGGAGGTGTGTATATGTGGAGGCGTGT ATATGTGGAGGCGTGTATATGTGGAGGTGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AKAP9_chr7_91935862_92115673	92064586	G G	GGCCTACG others(353): Show GGCCTACGGTCTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCTC TTTAGCCTAGGCCGGATTGCAGTGGCACAATCTCGGCTCACTGCAAGCTC CGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTT GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	306	0.0033	360	c.597 others(377): Show c.5978-628_5978-627insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCCC GCTCTTTAGCCTAGGCCGGATTGCAGTGGCACAATCTCGGCTCACTGCAA GCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGA CCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTACGGTCTGTTCTT	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	24/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKRD29_chr18_23593926_23667911	23615974	C C	CTATGTAT others(353): Show CTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC GTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC GTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0021 a0001c0001t0009g0021	1	352	0.0028	360	c.723 others(377): Show c.723+1757_723+1758insCGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar
ANKRD55_chr5_56094680_56238330	56172429	C C	CAAAAGAA others(353): Show CAAAAGAAAGGCATGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	308	0.0033	360	c.313 others(377): Show c.313-1627_313-1626insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCAGCATGCCTTTCTTTT	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	4/11			chr5	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(353): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	334	0.0030	360	c.838 others(375): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(353): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp1 HG00639.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0161 a0002c0002t0001g0157 a0002c0002t0001g0161	2	334	0.0060	360	c.838 others(375): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350015	G G	GGAAGGCA others(353): Show GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGA GGGAGGGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGCAGGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03017.hp2 NA18952.hp2 others(4): Show HG02155.hp1 HG03017.hp2 NA18952.hp2 NA18989.hp2 NA18999.hp2 NA19000.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0096 a0001c0001t0001g0142 others(4): Show a0001c0001t0001g0053 a0001c0001t0001g0096 a0001c0001t0001g0142 a0001c0001t0001g0188 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0244	7	334	0.0210	360	c.838 others(375): Show c.838-819_838-818insTCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCTCCTGCCTCCTTGCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350065	C C	CAGGGGAA others(353): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCAAGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	334	0.0030	360	c.838 others(375): Show c.838-869_838-868insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCTTGCCTTC CCCTCCCTCTCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350065	C C	CAGGGGAA others(353): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	334	0.0030	360	c.838 others(375): Show c.838-869_838-868insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCTCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(353): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	334	0.0030	360	c.838 others(375): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar

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