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
TMEM240_chr1_1529778_1545624	1543725	C C	CCTCTGTC others(295): Show CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03579.hp2 NA20300.hp2 HG03486.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0166 a0001c0001t0002g0038 a0001c0001t0001g0166 a0001c0001t0002g0038	3	428	0.0070	302	c.-33 others(313): Show c.-3380_-3379insAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGGAGTG GCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGGAGTG GCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGAG	TMEM240	ENSG00000205090.10	transcript	ENST00000378733.9	protein_coding		3102		chr1	TogoVar
TMEM242_chr6_157284025_157328519	157311088	A A	AGCCTCAT others(295): Show AGCCTCATCATACTGCCCCAGTGTGCACTCAGCCTCATCATACTACGCCA GTGTGCGCTCACCTGGCCTTATCATAATGCCCCAGTGTGCGCTCACCTGG TCTCATCATAGTGCCCCAGTGTGCGCTGACCTAGCCTCTTCATAGTGTCC CAGTGTGCACTCAACTAGCCTCATCAGAGTGTCCCAGTGTGCGCTCACCT AGCCTCATCATACTGCCCCAGTGTGCACTCACCAAGCCTCCTCATAGTGC CGGAGTGTGCACTCACCTAGCCTCATCACAGTGTCCCAGTGGGCGCTCAC CCG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	344	0.0029	302	c.327 others(319): Show c.327+7693_327+7694insCGGGTGAGCGCCCACTGGGACACTGTGA TGAGGCTAGGTGAGTGCACACTCCGGCACTATGAGGAGGCTTGGTGAGTG CACACTGGGGCAGTATGATGAGGCTAGGTGAGCGCACACTGGGACACTCT GATGAGGCTAGTTGAGTGCACACTGGGACACTATGAAGAGGCTAGGTCAG CGCACACTGGGGCACTATGATGAGACCAGGTGAGCGCACACTGGGGCATT ATGATAAGGCCAGGTGAGCGCACACTGGCGTAGTATGATGAGGCTGAGTG CACACTGGGGCAGTATGATGAGGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM51_chr1_15148747_15225478	15170144	C C	CTGTCATA others(295): Show CTGTCATAATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19030.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0009 a0001c0007 a0001c0009	a0001c0007t0014 a0001c0009t0027 a0001c0007t0014 a0001c0009t0027	a0001c0007t0014g0036 a0001c0009t0027g0190 a0001c0007t0014g0036 a0001c0009t0027g0190	2	298	0.0067	302	c.-26 others(323): Show c.-267+16206_-267+16207insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACT GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCGCGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAATGTCATAATTATTTTT	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM51_chr1_15148747_15225478	15225218	G G	GGGGGAGG others(295): Show GGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGGGGAGGGGAGGGAGGG GGAGGGGAGGGAGAGGGAAGGGAGGGGAGGGAGGGGGAAGGGAGGGGAGG GAGGGGGAGGAAAGCAGAGGGGATGGGAGGAGGAGGGGGAGGGGACAGGA GGGAAGTGAGGGGGAGGGGATGTGAGGGGGGAGGGAGAGGGGAGGGGGAA GGGGAGGGTGAGGGAGGGGGAGGGGAGGGAGGGAGTGGGGGGAGGGAGTG GGGGAGGGGAGAGGGGGAGGGGAGGGAGTGGGGGAGAGGGGGAGGGGAGG GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0267 a0001c0002t0003g0267	1	298	0.0034	302	c.54 others(313): Show c.5475_*5476insGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGG GGAGGGGAGGGAGGGGGAGGGGAGGGAGAGGGAAGGGAGGGGAGGGAGGG GGAAGGGAGGGGAGGGAGGGGGAGGAAAGCAGAGGGGATGGGAGGAGGAG GGGGAGGGGACAGGAGGGAAGTGAGGGGGAGGGGATGTGAGGGGGGAGGG AGAGGGGAGGGGGAAGGGGAGGGTGAGGGAGGGGGAGGGGAGGGAGGGAG TGGGGGGAGGGAGTGGGGGAGGGGAGAGGGGGAGGGGAGGGAGTGGGGGA GAGGGGGAGGGGAGGGGA	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding		4741		chr1	TogoVar
TOP3A_chr17_18266428_18319994	18298363	C C	CCCGTCCG others(295): Show CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCAGCCGGCCGCCCCGTCCGGGAGGGAGGTGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTAGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAAGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGTCCCTCTGCCCGGCCAGC CGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG02809.hp2 others(5): Show HG01891.hp1 HG02559.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0018 a0001c0005 a0001c0018	a0001c0005t0009 a0001c0005t0025 a0001c0005t0026 others(1): Show a0001c0005t0009 a0001c0005t0025 a0001c0005t0026 a0001c0018t0027	a0001c0005t0009g0004 a0001c0005t0009g0106 a0001c0005t0009g0107 others(3): Show a0001c0005t0009g0004 a0001c0005t0009g0106 a0001c0005t0009g0107 a0001c0005t0025g0109 a0001c0005t0026g0105 a0001c0018t0027g0108	8	388	0.0206	302	c.990 others(319): Show c.990+1195_990+1196insAGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGACTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCCGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGG	TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	9/18			chr17	TogoVar
TPD52_chr8_80029745_80176564	80072685	G G	GCGTGTAT others(295): Show GCGTGTATATACATGTACACATAGATATGCGTGTATATACATGTACACAT AGATATGCGTGTATATACATGTACACATAGATATGCGTGTATATACATGT ACACATAGATATGCGTGTATATACATGTACACATAGATATGCGTGTATAT ACATGTACACATAGATATGCGTGTATATACATGTACACATAGATATGCGT GTATATACATGTACACATAGATATGCGTGTATATACATGTACACATAGAT ATGCGTGTATATACATGTACACATAGATGTGTGTATATACATGTACACAT AGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	228	0.0044	302	c.20- others(317): Show c.20-8093_20-8092insTCTATGTGTACATGTATATACACACATCTA TGTGTACATGTATATACACGCATATCTATGTGTACATGTATATACACGCA TATCTATGTGTACATGTATATACACGCATATCTATGTGTACATGTATATA CACGCATATCTATGTGTACATGTATATACACGCATATCTATGTGTACATG TATATACACGCATATCTATGTGTACATGTATATACACGCATATCTATGTG TACATGTATATACACGCATATCTATGTGTACATGTATATACACGCATATC TATGTGTACATGTATATACACG	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TPO_chr2_1408463_1548673	1422296	C C	CGCAGGCG others(295): Show CGCAGGCGCCTCTCCTGGACCGACCTCGTGCAGGCGCCTCTCCTGGACCG ACCTCGTGCAGGCGCCGCGCTGGACAGACCTCGTGCAGGTGCCGCGCTGG ACAGACCTCGTGCAGGCGCCTCTCCTGGACCGACCTCGTGCAGACGCCGC GCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACCGACCTCGTGCAGGC GCCGCGCTGGACTGACCTCGTGCAGGTGCCGCGCTGGACAGACCTCGTGC AGGCGCCTCTCCTGGACCGACCTCGTGCAGACGCCGCGCTGGACAGACCT CGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0010	1	130	0.0077	302	c.95- others(315): Show c.95-730_95-729insCGACCTCGTGCAGGCGCCTCTCCTGGACCGAC CTCGTGCAGGCGCCGCGCTGGACAGACCTCGTGCAGGTGCCGCGCTGGAC AGACCTCGTGCAGGCGCCTCTCCTGGACCGACCTCGTGCAGACGCCGCGC TGGACAGACCTCGTGCAGGCGCCTCTCCTGGACCGACCTCGTGCAGGCGC CGCGCTGGACTGACCTCGTGCAGGTGCCGCGCTGGACAGACCTCGTGCAG GCGCCTCTCCTGGACCGACCTCGTGCAGACGCCGCGCTGGACAGACCTCG TGCAGGCGCCTCTCCTGGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507587	G G	GTATCTAC others(295): Show GTATCTACATGTGTACACATGTGTATACGTATACATGTGTACACATGTGT ATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACACATGT GTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACACAT GTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTATGTATGTGTATATATGT ATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	388	0.0026	302	c.-23 others(319): Show c.-23+2460_-23+2461insTATACATATATACACATACATACATGTG TACACATGTATACGTATACACATGTGTACACATGTATACGTATACACATG TGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACACA TGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACA CATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATA CACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTAGATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097525	A A	ACATATAC others(295): Show ACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATAT ACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGC GTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGT ATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATAC ATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATAC ACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGT GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA19006.hp1 NA18978.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0267 a0001c0001t0003g0053 a0001c0001t0003g0267	2	334	0.0060	302	c.-47 others(313): Show c.-4745_-4744insCACACGCGTGTATATGTATATACACACGCGTGTA TATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTA TATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACA CACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCG TGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATA TGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATA TACACACGCGTGTATATG	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4719		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097648	T T	TACATATA others(295): Show TACATATACACGCGTGTGTATATACATATACACGCGTGCGTATATACATA TACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCG TATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	334	0.0030	302	c.-48 others(313): Show c.-4868_-4867insGTATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATACGCACGCGTGTATAT GTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATAT ACACACGCGTGTATATGT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4842		chr20	TogoVar
TTLL8_chr22_50013575_50063298	50028908	C C	CCCCATCA others(295): Show CCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTAAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAG ACCCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCC TCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAA AGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	224	0.0045	302	c.225 others(321): Show c.2251+1521_2251+1522insTCTTTACGAGTGTGTGTGGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGACGGTGTGATGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870469	A A	ACACACAC others(295): Show ACACACACCACACCCCACACACACCACACACACCACACACACCACACACC CCCCACACACCACACCCCACACACACCACACACCCCACACACACATCACA TACCCCACACACCACACACCCCACACACACCACACACCCCCCACACACCA CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACACCCCACACACACCACACAAACCACACACCCTACACACCCCACAC ACACCACACACACACATCACATACCACACACACATCACATACCACACACA AAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	338	0.0030	302	c.35 others(321): Show c.35+21741_*35+21742insACCACACCCCACACACACCACACACA CCACACACACCACACACCCCCCACACACCACACCCCACACACACCACACA CCCCACACACACATCACATACCCCACACACCACACACCCCACACACACCA CACACCCCCCACACACCACACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACACCCCACACACACCACACAAACCACAC ACCCTACACACCCCACACACACCACACACACACATCACATACCACACACA CATCACATACCACACACAAACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(295): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG03942.hp2 NA18906.hp2 others(3): Show HG01358.hp1 HG03942.hp2 NA18906.hp2 NA18947.hp1 NA19080.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0033 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0137 a0001c0001t0001g0162 a0001c0001t0001g0165	6	320	0.0188	302	c.-38 others(313): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(295): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	320	0.0031	302	c.-38 others(313): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(295): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	320	0.0031	302	c.-38 others(313): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370515	G G	GCGTGTGT others(295): Show GCGTGTGTGTATGCGTGTGTATATGTGTGTGTGTATGTGTGTGTGTATGT GTGTATATGTGTGTGTATGTGTGTATGTGTGTATATGTGTGTGTATGTGT GTGTGTATATGCGTGTGTATATGTGTATGTGTGTGTATGTGTGTGTATAT GTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGT GTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTGTGTATGT GTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGT GTA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0392 a0002c0002t0005g0392	1	468	0.0021	302	c.-6- others(317): Show c.-6-3200_-6-3199insCGTGTGTGTATGCGTGTGTATATGTGTGTG TGTATGTGTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTATGTGTG TATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGTGTATGTG TGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTATGTG TGTGTATGTGTGTGTATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTA TATGTGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATATGTGTGTG TATGTGTGTGTATGTGTGTGTA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UNC5C_chr4_95157504_95553973	95196786	A A	ATATATAT others(295): Show ATATATATTATATTTATGTAATATATAATATATATATTATATTTATGTAA TATATAATATATATTTATATATTATATTTATGTAATATATAATATATATT TATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATA TATAATATATATTTATATATTATATTTATGTAATATATAATATATATTTA TATATTATATTTATGTAATATATAATATATATTTATATATTATATTTATG TAATATATAATATATATTTATATATTATATTTATGTAATATATAATATAT ATT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0010 a0001c0005t0019g0010	1	204	0.0049	302	c.213 others(321): Show c.2136+5944_2136+5945insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAAATATATATTATATATTACATAAATATAATATATAA ATATATATTATATATTACATAAATATAAATATATATTATATATTACATAA ATATAATATATAAATATATATTATATATTACATAAATATAATATATATAT TATATATTACATAAATATAATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UQCC1_chr20_35297578_35416973	35361225	T T	TAAAAAGT others(295): Show TAAAAAGTTTGAAAACCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAAAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01081.hp1 HG01257.hp1 others(38): Show HG00558.hp2 HG01081.hp1 HG01257.hp1 HG01515.hp2 HG01517.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02132.hp2 HG02280.hp2 HG02451.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18961.hp1 NA18983.hp2 NA18994.hp2 NA19004.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0145 a0001c0001t0002g0104 a0001c0001t0002g0105 others(38): Show a0001c0001t0001g0145 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0153 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0007g0151 a0001c0001t0008g0149	41	256	0.1602	302	c.464 others(319): Show c.464+5331_464+5332insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTTTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGGTTTTCAAACTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	6/9			chr20	TogoVar
USP28_chr11_113792875_113880572	113842663	A A	ACTATCTT others(295): Show ACTATCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTCAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0286 a0001c0002t0001g0286	1	364	0.0028	302	c.269 others(317): Show c.269-896_269-895insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAGATAG	USP28	ENSG00000048028.12	transcript	ENST00000696973.1	protein_coding	3/25			chr11	TogoVar
VCX2_chrX_8164944_8176267	8169109	C C	CCTCCCCA others(295): Show CCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCCTCTT CCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCTC CTCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCT CCCCCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCC TCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCA CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	302	c.92 others(311): Show c.922_*923insAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGAGGTGTGTGGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		834		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169327	C C	CCTCTTCC others(295): Show CCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCT CCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTCCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCT CTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCC CACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCTCACACACCACCGCTTCCTCCCTCCCTCCCTCCCTCCCC ACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0063 a0002c0001t0003g0063	1	115	0.0087	302	c.70 others(311): Show c.704_*705insTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGT GTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		616		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169657	T T	TCCCCCCT others(295): Show TCCCCCCTCCCCTCCCTCCCTCCCCACACACCACCTCCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCTCTTCCTCCCTCCCCACACACCACCTCTTCCTCCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCCTCTTCCTCCCTCCCTCCCCTCCCCACACACCACCTCTTCCTCC CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0001 a0012c0029t0001	a0012c0029t0001g0057 a0012c0029t0001g0057	1	115	0.0087	302	c.37 others(311): Show c.374_*375insGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGGAGGGA GGGAGGAAGAGGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGGAGGTGGTGTGTGGGGAGGG AGGGAGGGGAGGGGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		286		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467381	A A	AAGAGGTG others(295): Show AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	271	0.0037	302	c.99 others(311): Show c.998_*999insAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		872		chrX	TogoVar
VCX_chrX_7838171_7849143	7844337	A A	AGGGAGGG others(295): Show AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	341	0.0029	302	c.32 others(311): Show c.321_*322insGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		195		chrX	TogoVar
WDR72_chr15_53508741_53764663	53638668	T T	TAAAATAT others(295): Show TAAAATATCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCA CGAGGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0182 a0001c0002t0064g0182	1	316	0.0032	302	c.196 others(323): Show c.1963-22426_1963-22425insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGATATTTT	WDR72	ENSG00000166415.15	transcript	ENST00000360509.10	protein_coding	14/19			chr15	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(295): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TAATATATTTTTAAATATATATTATATATAATATATATTTAAAAATATAT TATATAAATATATTTTAAAATATGTATTATATATAAATATATTTTTAAAT ATATATTATATATAAATATATTTTTAAATATATATTATATATAAATATAT TTTTAAATATATATTATATATAAATATATTTTTAAATATATATTATATAT AAATATATTTTTAAATATATATTATATATAAATATATTTTTAAATATATA TTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0248 a0001c0001t0060g0248	1	394	0.0025	302	c.39+ others(317): Show c.39+1335_39+1336insTAATATATATTTAAAAATATATTTATATAT AATATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATAT TTATATATAATATATATTTAAAAATATATTTATATATAATATATATTTAA AAATATATTTATATATAATATATATTTAAAAATATATTTATATATAATAC ATATTTTAAAATATATTTATATAATATATTTTTAAATATATATTATATAT AATATATATTTAAAAATATATTATATATAATATATATTTAAAAATATATT ATATAAATATATTTTTATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZC3H12B_chrX_65029826_65512887	65450493	G G	GTACATAT others(295): Show GTACATATGTATATATGTATATATGTATATATATACATGTATACATATGT ATATATGTATACATATGTATATATGTATATATGTATAAATATACATATGT ATATATATGTATATATGTATACATATGTATATATACATATGTATATATAT GTATATATGTATACATATGTATATATACATATGTATATATATGTATATAT GCATATATACATATGTATATATATGTATATATGTATACATATGTATATAT ATGTATATATGTATACATATGTATATATATGTATATATGCATATATATAC ATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02145.hp1 HG01167.hp1 HG01169.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0161	3	165	0.0182	302	c.-15 others(323): Show c.-156-38152_-156-38151insACATATGTATATATGTATATATGT ATATATATACATGTATACATATGTATATATGTATACATATGTATATATGT ATATATGTATAAATATACATATGTATATATATGTATATATGTATACATAT GTATATATACATATGTATATATATGTATATATGTATACATATGTATATAT ACATATGTATATATATGTATATATGCATATATACATATGTATATATATGT ATATATGTATACATATGTATATATATGTATATATGTATACATATGTATAT ATATGTATATATGCATATATATACATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370846	T T	TATATACA others(295): Show TATATACATCATATATCACACATATGATATATACATCATATATCACACAT ATGATATACATCATATATCACACATATGATATACATCATATATCACACAT ATGATATACATCATATATCACACATATGATATACATCATATATCACACAT ATGATATACATCATATATCACACATATGATATACATCATATATCACACAT ATGATATATATCATATATCACACATATGATATATATCATATATCACACAT ATGATATATATCATATATCACACATATGATATATATCATATATCACACAT ATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	350	0.0029	302	c.-36 others(313): Show c.-3626_-3625insATATACATCATATATCACACATATGATATATACA TCATATATCACACATATGATATACATCATATATCACACATATGATATACA TCATATATCACACATATGATATACATCATATATCACACATATGATATACA TCATATATCACACATATGATATACATCATATATCACACATATGATATACA TCATATATCACACATATGATATATATCATATATCACACATATGATATATA TCATATATCACACATATGATATATATCATATATCACACATATGATATATA TCATATATCACACATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3522		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317946	A A	ACCCCCCC others(295): Show ACCCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCGCCCAGACA CAGAGATGGAAAGACCACACCCCCCCCAGACACAGAGATGGAAAGACCAC ACACCCCCAGACACAGAGATGGAAAGACCACACACCCCCCCCAGACACAG AGATGGAAAGACCACACACCCCCAGACACAGAGATGGAAAGACCACACCC CCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCAGACACAGAG ATGGAAAGACCACACCCCCCACACACACAGAGATGGAAAGACCACACACC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	282	0.0036	302	c.50 others(313): Show c.5080_*5081insCCCCCCCCCCAGACACAGAGATGGAAAGACCACA CACCCCGCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACAG AGATGGAAAGACCACACACCCCCAGACACAGAGATGGAAAGACCACACAC CCCCCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACACAGAGAT GGAAAGACCACACCCCCCCCCAGACACAGAGATGGAAAGACCACACCCCC CCCCCAGACACAGAGATGGAAAGACCACACCCCCCACACACACAGAGATG GAAAGACCACACACCCCC	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4786		chr10	TogoVar
ZNF543_chr19_57315472_57335770	57319211	T T	TATACATA others(295): Show TATACATATACATACATATATACATATATACATATACATACATATATACA TATATACATATACATACATATATACATATATATACATATACATACATATA TACATATATACATATACATACATATACATACATATATACATATACATACA TATACATACATATATATACATATATACATATACATACATATATACATATA TATACATATACATACATATATATACATATATATACATATACATACATATA TATACATATATATACATATACATACATATATACATATATATACATATACA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	460	0.0022	302	c.-16 others(313): Show c.-1643_-1642insATACATATACATACATATATACATATATACATAT ACATACATATATACATATATACATATACATACATATATACATATATATAC ATATACATACATATATACATATATACATATACATACATATACATACATAT ATACATATACATACATATACATACATATATATACATATATACATATACAT ACATATATACATATATATACATATACATACATATATATACATATATATAC ATATACATACATATATATACATATATATACATATACATACATATATACAT ATATATACATATACATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1260		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319211	T T	TATACATA others(295): Show TATACATATACATACATATATACATATATACATATACATACATATATACA TATATACATATACATACATATATATACATATATATACATATACATACATA TATACATATATACATATACATACATATACATACATATATACATATACATA CATATACATACATATATATACATATATACATATACATACATATATACATA TATACATATACATACATATATATACATATATATACATATACATACATATA TATACATATATATACATATACATACATATACATACATATATACATATACA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	460	0.0022	302	c.-16 others(313): Show c.-1643_-1642insATACATATACATACATATATACATATATACATAT ACATACATATATACATATATACATATACATACATATATATACATATATAT ACATATACATACATATATACATATATACATATACATACATATACATACAT ATATACATATACATACATATACATACATATATATACATATATACATATAC ATACATATATACATATATACATATACATACATATATATACATATATATAC ATATACATACATATATATACATATATATACATATACATACATATACATAC ATATATACATATACATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1260		chr19	TogoVar
ZNF732_chr4_265675_310474	299366	T T	TATGTGTA others(295): Show TATGTGTATATATATACACATATATACACATATGTGTATATATATACACA TATATACACATATGTGTATATATATACACATATATACACATATGTGTATA TATATACACATATATACACATATGTGTATATATATACACATATATACACA TATGTGTATATATATACACATATATACACATATGTGTATATATATATACA CATATATACACATATGTGTATATATATACACATATATACACATATGTGTA TATATATATACACATATATACACATGTGTATATATATATACACATATATA CAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	326	0.0031	302	c.4-3 others(315): Show c.4-3212_4-3211insGTGTATATATGTGTATATATATATACACATGT GTATATATGTGTATATATATATACACATATGTGTATATATGTGTATATAT ATACACATATGTGTATATATGTGTATATATATATACACATATGTGTATAT ATGTGTATATATATACACATATGTGTATATATGTGTATATATATACACAT ATGTGTATATATGTGTATATATATACACATATGTGTATATATGTGTATAT ATATACACATATGTGTATATATGTGTATATATATACACATATGTGTATAT ATGTGTATATATATACACAT	ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding	1/3			chr4	TogoVar
ZSWIM3_chr20_45852614_45884122	45866822	G G	GAAAGGAA others(295): Show GAAAGGAAAATGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19084.hp2 NA18946.hp1 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0166 a0001c0003t0002g0169 a0001c0003t0002g0166 a0001c0003t0002g0169	2	386	0.0052	302	c.155 others(319): Show c.155+8854_155+8855insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAGGAAAATGC	ZSWIM3	ENSG00000132801.7	transcript	ENST00000255152.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr20	TogoVar
AAGAB_chr15_67195667_67259661	67208153	G G	GAGAAAGG others(296): Show GAGAAAGGGGATATACTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCG CCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CAAGAGGCGGAGCTTGCAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCT TGGGCGAAAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0235 a0001c0001t0005g0235	1	380	0.0026	303	c.715 others(318): Show c.715+408_715+409insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCACTCTTTCGCCCAAGCTGGACTGCAGTGGCGCTATCCCG GCTCACTGCAAGCTCCGCCTCTTGGGTTCATGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCGGCTAATTT TTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGTATATCCCCTTTCT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	7/9			chr15	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(296): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	303	c.-10 others(314): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACVR2A_chr2_147840029_147935822	147892494	A A	AAACTTTT others(296): Show AAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC CAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG02897.hp1 others(3): Show HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 others(3): Show a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0192 a0001c0002t0006g0120 a0001c0002t0006g0121	6	338	0.0178	303	c.56- others(318): Show c.56-3798_56-3797insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCAACTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147892494	A A	AAACTTTT others(296): Show AAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC CAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18957.hp2 NA19077.hp1 HG00323.hp1 NA18957.hp2 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0103 a0001c0002t0001g0127 a0001c0002t0001g0075 a0001c0002t0001g0103 a0001c0002t0001g0127	3	338	0.0089	303	c.56- others(318): Show c.56-3798_56-3797insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCAACTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADARB2_chr10_1172313_1742525	1326822	G G	GGCCCAGC others(296): Show GGCCCAGCGCCTCCCCACTGCACAGCGCCTCCCCACGGCCCAGCGCCTCC CCACGGCCCAGCGCCTCCCCACTGCACAGCGCCTCCCCACGGCCCAGCGC CTCCCCACGGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCCCA GCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACTG CCCAGCGCCTCCCCACTGCACAGCGCCTCACTGCACAGCGCCTCCCCACT GCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCC CACT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0035 a0002c0002t0021g0035	1	106	0.0094	303	c.107 others(324): Show c.1077+36205_1077+36206insAGTGGGGAGGCGCTGGGCAGTGGG GAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCAG TGAGGCGCTGTGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCC GTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTG GGCAGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGC GCTGTGCAGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTGGGCCGTGGGG AGGCGCTGTGCAGTGGGGAGGCGCTGGGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADCY4_chr14_24313359_24340071	24325222	G G	GCTTTGGG others(296): Show GCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAAGG GCCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01123.hp1 others(21): Show HG00733.hp2 HG01109.hp1 HG01123.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02615.hp2 HG02723.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03710.hp2 NA18980.hp2 NA18983.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0003t0004	a0001c0001t0001g0194 a0001c0001t0001g0246 a0001c0001t0002g0066 others(15): Show a0001c0001t0001g0194 a0001c0001t0001g0246 a0001c0001t0002g0066 a0001c0001t0003g0034 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0263 a0001c0001t0004g0269 a0001c0001t0004g0271 a0001c0001t0004g0273 a0001c0001t0006g0311 a0001c0002t0001g0230 a0001c0003t0004g0057 a0001c0003t0004g0301 a0001c0003t0004g0303	24	438	0.0548	303	c.182 others(320): Show c.1823+154_1823+155insTGGCCCTTATCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGT GGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAG	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	14/24			chr14	TogoVar
ADCY4_chr14_24313359_24340071	24325222	G G	GCTTTGGG others(296): Show GCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAAGG GCCA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG02622.hp2 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0304 a0001c0003t0004g0305 a0001c0003t0004g0304 a0001c0003t0004g0305	2	438	0.0046	303	c.182 others(320): Show c.1823+154_1823+155insTGGCCCTTATCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGT GGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAG	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	14/24			chr14	TogoVar
AGGF1_chr5_77025404_77070234	77042984	G G	GGGGCGGC others(296): Show GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCG GACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp2 HG01258.hp1 others(2): Show HG01099.hp2 HG01256.hp2 HG01258.hp1 HG03017.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0359 a0001c0002t0006g0360 a0001c0002t0006g0361 others(2): Show a0001c0002t0006g0359 a0001c0002t0006g0360 a0001c0002t0006g0361 a0001c0002t0006g0362 a0001c0002t0006g0363	5	438	0.0114	303	c.870 others(320): Show c.870+3281_870+3282insAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGGGC	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATAGTATA others(296): Show ATAGTATATATATTCTATATACAGAATATATATACTATATATATTCTATA TATAGAATATATATACTATATATATTCTATATATAGAATATATATACTGT ATATATATATATATATTCTGTATATAGAATATATATAGTATATATATTCT GTATATAGAATATATATACTATATATATTCTGTATATAGAATATATATAC TATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATA GAATATATATACTATATATATTCTGTATATAGAATATATATACTATATTA ATTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03017.hp2 HG00323.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0070 a0001c0001t0003g0220 a0001c0001t0001g0070 a0001c0001t0003g0220	2	236	0.0085	303	c.409 others(322): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGTA TATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAGA ATATATATAGTATATATATTCTATATACAGAATATATATACTATATATAT TCTATATACAGAATATATATATATATATACAGTATATATATTCTATATAT AGAATATATATAGTATATATATTCTATATATAGAATATATATAGTATATA TATTCTGTATATAGAATATATATACTA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
ANGPTL4_chr19_8359155_8379370	8363566	T T	TCTTTTCT others(296): Show TCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGT TCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGC TCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCC CGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01934.hp1 HG03225.hp2 others(2): Show HG01891.hp1 HG01934.hp1 HG03225.hp2 HG03471.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0093 a0003c0003t0001g0096 a0003c0003t0001g0019 a0003c0003t0001g0093 a0003c0003t0001g0096	5	408	0.0123	303	c.-75 others(312): Show c.-756_-755insCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCC GCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGAGCCCGGC	ANGPTL4	ENSG00000167772.12	transcript	ENST00000301455.7	protein_coding		588		chr19	TogoVar
ANKLE2_chr12_132720503_132766832	132759031	T T	TGCAGAGT others(296): Show TGCAGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCACGCAGAG TGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCAC CCCAGGGCACCCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCCGGGG CACCCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCCGGGGCACCCAC GTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCA GAGTGGATCACGCAGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGA TCAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	350	0.0029	303	c.181 others(320): Show c.181+2586_181+2587insGTGATCCACTCTGCCACGTGGGTGCCCC GGGGTGCCACTCTGCGTGATCCACTCTGCCACGTGGGTGCCCCGGGGTGC CACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACTCT GCGTGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCTGCGTGAT CCACTCTGCCACGTGGGTGCCCTGGGGTGCCACTCCGCAGCGATCCTCTC TGCCACGTGGGTGCCCCGGGGTGCCACTCTGCGTGATCCACTCTGCCACG TGGGTGCCCCGGGGTGCCACTCTGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(296): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0317 a0002c0008t0001g0317	1	370	0.0027	303	c.494 others(318): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
ARHGAP24_chr4_85470150_86007666	85781574	T T	TAAAAAAA others(296): Show TAAAAAAATACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCCGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp1 HG01884.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0017 a0001c0001t0001 a0001c0008t0017	a0001c0001t0001g0008 a0001c0008t0017g0057 a0001c0001t0001g0008 a0001c0008t0017g0057	2	108	0.0185	303	c.268 others(322): Show c.268+59612_268+59613insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCCGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATAC	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP24_chr4_85470150_86007666	85781574	T T	TAAAAAAA others(296): Show TAAAAAAATACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG04115.hp1 HG04199.hp1 others(1): Show HG02486.hp1 HG04115.hp1 HG04199.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 a0001c0002 a0001c0003 a0001c0007	a0001c0002t0013 a0001c0003t0001 a0001c0007t0003 a0001c0002t0013 a0001c0003t0001 a0001c0007t0003	a0001c0002t0013g0029 a0001c0003t0001g0004 a0001c0003t0001g0020 others(1): Show a0001c0002t0013g0029 a0001c0003t0001g0004 a0001c0003t0001g0020 a0001c0007t0003g0044	4	108	0.0370	303	c.268 others(322): Show c.268+59612_268+59613insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATAC	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ATG5_chr6_106179476_106330760	106251644	A A	AGGGAGGG others(296): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGA GGGAGGGAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGA GAGGGAGGGGGAGAGGGAGGGAGGGAGAGAGGGAGAGGGAGAGGGAGGGG GAGAGAGGGAGGGAGGGTAAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGA GGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGG GAGAGAGGGAGGGTGGGGGAGGGAGGGAGGGAGGGGGAGGGAGGGAGGGA GGGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02129.hp2 NA18942.hp1 HG00621.hp2 HG02129.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0331 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0331	3	358	0.0084	303	c.479 others(320): Show c.479-3401_479-3400insCCCCTCCCTCCCTCCCTCCCCCTCCCTC CCTCCCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCC TCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTC CCTCTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCTCTCCCTCTC TCCCTCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTC TCTCCCCCTCCCCCTCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGC CTCCCTCCCTCCCTCCCTCCCTCCC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATG5_chr6_106179476_106330760	106251644	A A	AGGGAGGG others(296): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGA GAGAGGGAGGGAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGG GAGAGAGGGAGGGGGAGAGGGAGGGAGGGAGAGAGGGAGAGGGAGAGGGA GGGGGAGAGAGGGAGGGAGGGTAAGAGAGGGAGAGAGGGAGGGGGAGAGA GGGAGGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGGAGAAAGGAGGGGGA GGGGGAGAGAGGGAGGGTGGGGGAGGGAGGGAGGGGGAGGGAGGGAGGGA GGGG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	358	0.0028	303	c.479 others(320): Show c.479-3401_479-3400insCCCCTCCCTCCCTCCCTCCCCCTCCCTC CCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCCTCCC TCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTCCCTC TCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCTCTCCCTCTCTCCC TCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCTC CCCCTCCCCCTCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCC CTCCCTCCCTCCCTCCCTCCCTCCC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(296): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCCACCCCCCA CCTCCCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCACCCAC CTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCAC CCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCC CACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCC CCCACCCCCACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCC ACCC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0095 a0001c0001t0010g0095	1	254	0.0039	303	c.39+ others(320): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCCA CCCCCCACCTCCCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCAC CTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCC CCACCCCCCCACCCCCACCCCCCACCCCCCACCTCCCCCCACCCCCCACC TCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar

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