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
YBEY_chr21_46281342_46302751	46293507	G G	GAGTCAGC others(213): Show GAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCATGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	404	0.0025	220	c.339 others(237): Show c.339+2045_339+2046insAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46293803	G G	GAGTCAGC others(213): Show GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGAAGTGAGT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0321	1	404	0.0025	220	c.339 others(237): Show c.339+2341_339+2342insAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CTGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46294480	G G	GCAAGTTA others(213): Show GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCTGGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	404	0.0025	220	c.340 others(237): Show c.340-1619_340-1618insGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294620	A A	ACAGCCAC others(213): Show ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCTGGAGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	404	0.0025	220	c.340 others(237): Show c.340-1527_340-1526insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294628	G G	GCAAGTTA others(213): Show GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCTGGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	404	0.0025	220	c.340 others(237): Show c.340-1471_340-1470insGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(213): Show GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCTGGAGTCA GCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	404	0.0025	220	c.340 others(237): Show c.340-1461_340-1460insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGG GACTCTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB8A_chr1_32534427_32610941	32539740	G G	GGCGCCGA others(213): Show GGCGCCGAGGCGAGCGGGCGCCATTTGCAGCCCGGGGCGCAGTGGCGGCG GCGGCGGCGCCGGCTCCGAGGGGCTGTGGGCGGCCACGGAGGAGGCGCGG GCGGCTGCGGCGGCGGCGGGCCCAGCCCGGGGCGGCGGCGGGCGTTGGTG GGCACCGGCTCCCGGCCGCCCCTCCCCGCGCCCGGCCGCGCCTCCCAGCC CGCGGGGCCGGCCCTTTCTGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG00639.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0297 a0001c0001t0036g0298 a0001c0001t0036g0297 a0001c0001t0036g0298	2	302	0.0066	220	c.-84 others(235): Show c.-84+173_-84+174insGAGGCGAGCGGGCGCCATTTGCAGCCCGGG GCGCAGTGGCGGCGGCGGCGGCGCCGGCTCCGAGGGGCTGTGGGCGGCCA CGGAGGAGGCGCGGGCGGCTGCGGCGGCGGCGGGCCCAGCCCGGGGCGGC GGCGGGCGTTGGTGGGCACCGGCTCCCGGCCGCCCCTCCCCGCGCCCGGC CGCGCCTCCCAGCCCGCGGGGCCGGCCCTTTCTGCGCGCC	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(213): Show GGAGGGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGG GGAGGGGAGGGAAGGAGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp1 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0038 a0001c0001t0001g0053	2	228	0.0088	220	c.103 others(239): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCT CCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCT CCTCCCCTCCCCTCTCCTCCTCTACCCTCTCCTTCCCTCCCCTCCCCTCC CCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCT CCTCCTCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(213): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGG AGAGGGTAGAGGAGGAGAGGGTAGAGGAGGAGAGGGTAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGAGGAGGAGAGGGGAGG GGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19066.hp1 NA18964.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0200 a0001c0001t0001g0065 a0001c0001t0001g0200	2	228	0.0088	220	c.103 others(239): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCT CCTCCTCTACCCTCTCCTCCTCTACCCTCTCCTCCTCTACCCTCTCCTTC CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCT CCTCCTCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(213): Show TATATATGTCCCATATCTATCTCATATATATATGTCCCATATATATCTAT CTCATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATAT ATATATCTCATATATATGTCCCATATATATATATCTCATATATATGTCCC ATATATATATATCTCATATATATGTCCCATATATATATATCTCATATATA TGTCCCATATATATATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	350	0.0029	220	c.-46 others(231): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATATGT CCCATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATAT ATATGTCCCATATATATATATCTCATATATATGTCCCATATATATATATC TCATATATATGTCCCATATATATATATCTCATATATATGTCCCATATATA TATATCTCATATATATGTCCCATATATATATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF430_chr19_21015657_21065050	21019539	A A	AATATATA others(213): Show AATATATATATAAATATATATAAATATATAAATATATATATAAATATATA TAAATATATAAATATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATATAAATATATATAAAAATATATATAAATATATA AATATATATATATAAATATATATAAATATATATAAATATATAAATATATA TATATAAATATATATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00642.hp1 others(6): Show HG00140.hp2 HG00323.hp2 HG00642.hp1 HG01123.hp1 HG01261.hp2 HG01978.hp2 HG03239.hp1 HG04199.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0109 a0001c0001t0001g0113 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117	9	298	0.0302	220	c.-12 others(231): Show c.-1262_-1261insATATATATATAAATATATATAAATATATAAATAT ATATATAAATATATATAAATATATAAATATATATATAAATATATATAAAT ATATAAATATATATATAAATATATATAAATATATAAATATATATAAAAAT ATATATAAATATATAAATATATATATATAAATATATATAAATATATATAA ATATATAAATATATATATATAAATATATATAAATAT	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		1117		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319237	C C	CATATACA others(213): Show CATATACATACATATACATACATATACATACATATATACATATACATATA TATACATATACATACATATACATACATATATATACATATACATACATATA CATACATATATACATATACATACATATACATACATATATACATATACATA CATATATATATACATATATATACATATACATACATATATACATATATATA CATATACATACATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02970.hp1 HG01884.hp2 HG02970.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0010 a0007c0007t0010	a0007c0007t0010g0016 a0007c0007t0010g0016	2	460	0.0044	220	c.-16 others(231): Show c.-1617_-1616insATATACATACATATACATACATATACATACATAT ATACATATACATATATATACATATACATACATATACATACATATATATAC ATATACATACATATACATACATATATACATATACATACATATACATACAT ATATACATATACATACATATATATATACATATATATACATATACATACAT ATATACATATATATACATATACATACATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1234		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(213): Show CATATATACATATATATACATATACATACATATATATACATATATATACA TATACATACATATATATACATATATATACATATACATACATATATATACA TATATATACATATACATACATATATATACATATATATACATATACATACA TATATATACATATATATACATATACATACATATATATACATATATATACA TATACATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18961.hp1 NA18971.hp1 others(3): Show NA18941.hp2 NA18961.hp1 NA18971.hp1 NA18989.hp1 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0112 a0001c0001t0001g0117 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0007g0116	6	460	0.0130	220	c.-13 others(231): Show c.-1395_-1394insATATATACATATATATACATATACATACATATAT ATACATATATATACATATACATACATATATATACATATATATACATATAC ATACATATATATACATATATATACATATACATACATATATATACATATAT ATACATATACATACATATATATACATATATATACATATACATACATATAT ATACATATATATACATATACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF644_chr1_90910304_91027035	90950307	G G	GAGGGGAG others(213): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	314	0.0032	220	c.45- others(235): Show c.45-8999_45-8998insTTTCTTTTCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZSCAN5A_chr19_56216303_56319839	56237978	C C	CACACACA others(213): Show CACACACACGGACACATGGACACACACATGAACACATGGACACACACATA AACACATGGACACACACGAACACACACCTACACACACGTGGACACACACG GACACATGGACACACACGAACACATGGACACACACACGGGGACACACACG GACACACACAGAGACACACACGGACACATGGAAACACACGAACACACACC CACACCCCCACACACACACGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00621.hp1 others(57): Show HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG01106.hp2 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 NA18950.hp2 NA18956.hp2 NA18957.hp1 NA18968.hp2 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA19000.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19064.hp1 NA19065.hp2 NA19086.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0003t0001 a0001c0008t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0028 a0001c0001t0001g0061 a0001c0001t0001g0062 others(57): Show a0001c0001t0001g0028 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0254 a0001c0001t0001g0262 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0310 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0346 a0001c0001t0001g0354 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0189 a0001c0001t0003g0004 a0001c0001t0010g0360 a0001c0003t0001g0041 a0001c0003t0001g0081 a0001c0003t0001g0092 a0001c0008t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0293 a0003c0004t0001g0124 a0003c0004t0001g0180 a0003c0004t0001g0338	60	362	0.1658	220	c.-12 others(241): Show c.-127-12806_-127-12805insCCGTGTGTGTGTGGGGGTGTGGGT GTGTGTTCGTGTGTTTCCATGTGTCCGTGTGTGTCTCTGTGTGTGTCCGT GTGTGTCCCCGTGTGTGTGTCCATGTGTTCGTGTGTGTCCATGTGTCCGT GTGTGTCCACGTGTGTGTAGGTGTGTGTTCGTGTGTGTCCATGTGTTTAT GTGTGTGTCCATGTGTTCATGTGTGTGTCCATGTGTCCGTGTGTGT	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56237978	C C	CACACACA others(213): Show CACACACACGGACACATGGACACACACATGAACACATGGACACACACATA AACACATGGACACACACGAACACACACCTACACACACGTGGACACACACG GACACATGGACACACACGAACACATGGACACACACACGGGGACACATACG GACACACACAGAGACACACACGGACACATGGAAACACACGAACACACACC CACACCCCCACACACACACGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	362	0.0028	220	c.-12 others(241): Show c.-127-12806_-127-12805insCCGTGTGTGTGTGGGGGTGTGGGT GTGTGTTCGTGTGTTTCCATGTGTCCGTGTGTGTCTCTGTGTGTGTCCGT ATGTGTCCCCGTGTGTGTGTCCATGTGTTCGTGTGTGTCCATGTGTCCGT GTGTGTCCACGTGTGTGTAGGTGTGTGTTCGTGTGTGTCCATGTGTTTAT GTGTGTGTCCATGTGTTCATGTGTGTGTCCATGTGTCCGTGTGTGT	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56237978	C C	CACACACA others(213): Show CACACACACGGACACATGGACACACACATGAACACATGGACACACACATA AACACATGGACACACACGAACACACACCTACACACATGTGGACACACACG GACACATGGACACACACGAACACATGGACACACACACGGGGACACACACG GACACACACAGAGACACACACGGACACATGGAAACACACGAACACACACC CACACCCCCACACACACACGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18906.hp1 HG02886.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0347 a0001c0001t0001g0146 a0001c0001t0001g0347	2	362	0.0055	220	c.-12 others(241): Show c.-127-12806_-127-12805insCCGTGTGTGTGTGGGGGTGTGGGT GTGTGTTCGTGTGTTTCCATGTGTCCGTGTGTGTCTCTGTGTGTGTCCGT GTGTGTCCCCGTGTGTGTGTCCATGTGTTCGTGTGTGTCCATGTGTCCGT GTGTGTCCACATGTGTGTAGGTGTGTGTTCGTGTGTGTCCATGTGTTTAT GTGTGTGTCCATGTGTTCATGTGTGTGTCCATGTGTCCGTGTGTGT	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ADAP1_chr7_892900_959680	905411	G G	GGAGAAAG others(214): Show GGAGAAAGGGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGA GAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAAAAAGGAGA AAGGGAAAAGAGAAAGGGAAAGGAGAAAGGGAAAAGAGAAAGGAGAAAGG AGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAG AAAGGGAAAGGAGAAAGGGAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	14	0.0714	221	c.389 others(236): Show c.389-240_389-239insTTTCCCTTTCTCCTTTCCCTTTCTCCTTTC TCCTTTCTCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTC CTTTCTCTTTTCCCTTTCTCCTTTCCCTTTCTCTTTTCCCTTTCTCCTTT TTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCT CCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCCCTTTCTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
AHRR_chr5_316714_443285	420817	C C	CCACGCAG others(214): Show CCACGCAGCACGCCCAGACCCACGCACGCAGCCACCCACCCACGCAGCAC GCCCAGACCCACGCACGCAGCCACCCACCCACGCAGCACGCCCAGACCCA CGCACGCAGCCACCCACCCACGCAGCACGCACAGACCCACGCACGCAGCA CGCACAGACCCACGCACGCAGCCACCCACCCACGCAGCACGCACAGACCC ACGCAGCACGCACAGACCCACG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	268	0.0037	221	c.442 others(238): Show c.442-1904_442-1903insACGCCCAGACCCACGCACGCAGCCACCC ACCCACGCAGCACGCCCAGACCCACGCACGCAGCCACCCACCCACGCAGC ACGCCCAGACCCACGCACGCAGCCACCCACCCACGCAGCACGCACAGACC CACGCACGCAGCACGCACAGACCCACGCACGCAGCCACCCACCCACGCAG CACGCACAGACCCACGCAGCACGCACAGACCCACGCACGCAGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	424182	G G	GGTGCTGA others(214): Show GGTGCTGAGCTCTGTGCACCCTGTGATGGTGTGAGGGTGTTAACCCATGT GTCTCTGGTGGGTGGGAGAGGGCCGGTGCTGAGCTCTGTGCACCCTGTGA TGGTGTGGGGGCTTTAACCCACGTGTCTCTGGTGGGTGGGAGAGGGCTGG GCATGAGCTCTGTGCACCCTGTGATGGTGTGAGGGTGTTAACCCATGTGT CTCTGGTGGGGGGGCGAGGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0039 a0005c0005t0039	a0005c0005t0039g0250 a0005c0005t0039g0250	1	268	0.0037	221	c.708 others(236): Show c.708+206_708+207insTGCTGAGCTCTGTGCACCCTGTGATGGTGT GAGGGTGTTAACCCATGTGTCTCTGGTGGGTGGGAGAGGGCCGGTGCTGA GCTCTGTGCACCCTGTGATGGTGTGGGGGCTTTAACCCACGTGTCTCTGG TGGGTGGGAGAGGGCTGGGCATGAGCTCTGTGCACCCTGTGATGGTGTGA GGGTGTTAACCCATGTGTCTCTGGTGGGGGGGCGAGGGCCG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	424182	G G	GGTGCTGA others(214): Show GGTGCTGAGCTCTGTGCACCCTGTGATGGTGTGAGGGTGTTAACCCATGT GTCTCTGGTGGGTGGGAGAGGGCCGGTGCTGAGCTCTGTGCACCCTGTGA TGGTGTGGGGGCTTTAACCCAGGTGTCTCTGGTGGGTGGGAGAGGGCTGG GCATGAGCTCTGTGCACCCTGTGATGGTGTGAGGGTGTTAACCCATGTGT CTCTGGTGGGGGGGCGAGGGCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp1 HG01167.hp1 others(9): Show HG01069.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01258.hp2 HG01993.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp2 HG03225.hp2 NA19083.hp2	a0005 a0006 a0005 a0006	a0005c0005 a0006c0006 a0005c0005 a0006c0006	a0005c0005t0008 a0005c0005t0015 a0005c0005t0038 others(2): Show a0005c0005t0008 a0005c0005t0015 a0005c0005t0038 a0006c0006t0021 a0006c0006t0031	a0005c0005t0008g0036 a0005c0005t0008g0049 a0005c0005t0008g0056 others(9): Show a0005c0005t0008g0036 a0005c0005t0008g0049 a0005c0005t0008g0056 a0005c0005t0008g0057 a0005c0005t0008g0060 a0005c0005t0008g0061 a0005c0005t0008g0108 a0005c0005t0015g0118 a0005c0005t0038g0024 a0006c0006t0021g0231 a0006c0006t0021g0234 a0006c0006t0031g0226	12	268	0.0448	221	c.708 others(236): Show c.708+206_708+207insTGCTGAGCTCTGTGCACCCTGTGATGGTGT GAGGGTGTTAACCCATGTGTCTCTGGTGGGTGGGAGAGGGCCGGTGCTGA GCTCTGTGCACCCTGTGATGGTGTGGGGGCTTTAACCCAGGTGTCTCTGG TGGGTGGGAGAGGGCTGGGCATGAGCTCTGTGCACCCTGTGATGGTGTGA GGGTGTTAACCCATGTGTCTCTGGTGGGGGGGCGAGGGCCG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALLC_chr2_3653200_3707671	3690331	C C	CCCTCCCC others(214): Show CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTTCCCCCTCCCCCCCCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0140 a0007c0011t0001g0140	1	274	0.0037	221	c.512 others(238): Show c.512-5384_512-5383insTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTTCCCCCTCCCCCCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(214): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGGG GGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGA GGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGG GAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGG AGGGGAGAGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0152 a0003c0005t0001g0152	1	356	0.0028	221	c.667 others(236): Show c.667-817_667-816insTCTCCCCTCCCCCCTCTCCCCTCCCCTCCC CCCTCTCCCCCTCCCCTCCCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCC CCTCCCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCC CTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCCCC CCTCTCCCCCTCTCCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1873435	C C	CCCGCGGG others(214): Show CCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGTGGAGAGGTGCCGCG GGGTAGTGCACCCGCATTTCCTCGTTGCGTTGAGAGGTGCCGCGGGGTAG TGCACCCGCATTTCCTCGTTGCGTTGAGAGGTGCCGCGGGGTAGTGCACC CGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCAT TTCCTCGTTGCGTTGAGACGTG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0111 a0001c0111	a0001c0111t0047 a0001c0111t0047	a0001c0111t0047g0123 a0001c0111t0047g0123	1	363	0.0028	221	c.680 others(238): Show c.680-3101_680-3100insGGAGAGGTGCCGCGGGGTAGTGCACCCG CATTTCCTCGTTGCGTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTC CTCGTTGCGTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTT GCGTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGTT GAGACGTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873607	G G	GCGCCCGC others(214): Show GCGCCCGCGGGGTAGTGCATCCGCATTTCCTCGCGTTGAGAGGTACCGCG GGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTA GTGCACCCGCATTTCCTAGTTGCCTTCAGAGGCGCCCGCGGGGTAGTGCA CCCGCATTTCCTCGTTTCGTTGAGAGGTGCCCGCGGGGTAGTGCACCCGC ATTTCCTCGTTTCATTGAGAGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0154 a0001c0154	a0001c0154t0009 a0001c0154t0009	a0001c0154t0009g0265 a0001c0154t0009g0265	1	363	0.0028	221	c.680 others(238): Show c.680-2964_680-2963insCGCCCGCGGGGTAGTGCATCCGCATTTC CTCGCGTTGAGAGGTACCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCC TTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTCAG AGGCGCCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTCGTTGAGAGGTG CCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTCATTGAGAGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873654	G G	GCCGCGGG others(214): Show GCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGC GGGGTAGTGCATCCGCATTTCCTCGCGTTGAGAGGTACCGCGGGGTAGTG CACCTGCATTTCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCACCC GCATTTCCTAGTTGCCTTCAGAGGCGCCCGCGGGGTAGTGCACCCGCATT TCCTCGTTTCGTTGAGAGGTGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0320 a0001c0001t0019g0320	1	363	0.0028	221	c.680 others(238): Show c.680-2886_680-2885insGCGTTGAGAGGCGCCCGCGGGGTAGTGC ATCCGCATTTCCTCGCGTTGAGAGGTACCGCGGGGTAGTGCACCTGCATT TCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTA GTTGCCTTCAGAGGCGCCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTC GTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTCGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(214): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCT CCCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	264	0.0038	221	c.102 others(238): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCTCCCCCTCCC CCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(214): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCC TCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp1 HG02723.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0159 a0001c0001t0001g0160	2	264	0.0076	221	c.102 others(238): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCC CCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(214): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCT CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCTCCCC CTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0037 a0003c0003t0001g0037	1	264	0.0038	221	c.102 others(238): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCT CCCCCTCCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCCTCCCCCTCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASB5_chr4_176208673_176274222	176218377	A A	ATTTGTAT others(214): Show ATTTGTATGACATATAAATATATATATTTGTATGACATATAAATATATAT ATTTGTATGACATATAAATATATATGTATGATATATAAATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	410	0.0024	221	c.671 others(238): Show c.671-1369_671-1368insAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATTTATATATCATACATATATATTTATATGTCATACAAATATATAT ATTTATATGTCATACAAATATATATATTTATATGTCATACAAA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72198299	A A	AGGGAGGG others(214): Show AGGGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGG GGACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGG AGGGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGG ACGGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGTG AGGGGAGGGAGGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	216	0.0046	221	c.311 others(238): Show c.311-1311_311-1310insCTCCCCTCCCCCTCCCTCCCCTCACCCT CCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCTCCCCTCCCCGTCCCCTC CCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTC CCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCCCTCCCCGTCCCCCCTC CCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCCCTCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
B4GALNT4_chr11_364499_387117	374688	G G	GAGGGAGG others(214): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	184	0.0054	221	c.784 others(236): Show c.784-766_784-765insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374842	G G	GAGGGAGG others(214): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGG GAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAGGG AGGTGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0173 a0001c0003t0002g0173	1	184	0.0054	221	c.784 others(236): Show c.784-612_784-611insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAA GGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG TGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374861	G G	GAGGGAGG others(214): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01975.hp1 HG01934.hp2 HG01975.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0083 a0001c0005t0002g0085 a0001c0005t0002g0083 a0001c0005t0002g0085	2	184	0.0109	221	c.784 others(236): Show c.784-593_784-592insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C10orf90_chr10_126419997_126675693	126565175	T T	TTATGTAA others(214): Show TTATGTAATATAATATTATATTACATATTATGTAATATAAATATTATATT ACATAATATGTAATATAATATTTATATTACATAATATGTAATATAATATT ATATTACATAATATGTAATATAATATTTATATTACATAATATGTAATATA ATATTATATTACATAATATGTAATATAATATTTATATTACATATTATGTA ATATAATATTTATATTACATAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0018 a0001c0001t0001g0023	2	218	0.0092	221	c.314 others(240): Show c.314-51237_314-51236insTTATGTAATATAAATATTATATTACA TAATATGTAATATAAATATTATATTACATATTATGTAATATAATATTATA TTACATATTATGTAATATAAATATTATATTACATATTATGTAATATAATA TTATATTACATATTATGTAATATAAATATTATATTACATATTATGTAATA TAATATTTATATTACATAATATGTAATATAATATTATATTACATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(214): Show ACCTCCCGGACAGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	436	0.0023	221	c.44 others(232): Show c.4434_*4435insCCTCCCGGACAGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAG GGCGGCTGGCCGGGCGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(214): Show ACCTCCCGGACCGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTAGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02040.hp2 NA19059.hp1 HG00423.hp1 HG02040.hp2 NA19059.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105	3	436	0.0069	221	c.44 others(232): Show c.4434_*4435insCCTCCCGGACCGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTAGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAG GGCGGCTGGCCGGGCGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(214): Show ACCTCCCGGACCGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00741.hp1 others(26): Show HG00140.hp2 HG00642.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01175.hp2 HG01256.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01978.hp1 HG02109.hp2 HG02300.hp2 HG02698.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03834.hp1 NA18943.hp1 NA18947.hp1 NA18953.hp1 NA18975.hp2 NA18977.hp1 NA18989.hp2 NA19077.hp1 NA19079.hp2 NA19085.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0001 a0003c0004t0001 a0001c0003t0001 a0003c0004t0001	a0001c0003t0001g0004 a0001c0003t0001g0041 a0001c0003t0001g0106 others(1): Show a0001c0003t0001g0004 a0001c0003t0001g0041 a0001c0003t0001g0106 a0003c0004t0001g0004	29	436	0.0665	221	c.44 others(232): Show c.4434_*4435insCCTCCCGGACCGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAG GGCGGCTGGCCGGGCGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(214): Show ACCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACAGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	2	436	0.0046	221	c.44 others(232): Show c.4434_*4435insCCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACAGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAG GGCGGCTGGCCGGGCGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(214): Show ACCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCAGACAGGGCGGCTGGCCGGGC GGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	436	0.0023	221	c.44 others(232): Show c.4434_*4435insCCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCAGACAG GGCGGCTGGCCGGGCGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(214): Show ACCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(78): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG02074.hp1 HG02155.hp2 HG02683.hp2 HG02698.hp2 HG03017.hp1 HG03239.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp1 NA18939.hp1 NA18943.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18985.hp1 NA18988.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19078.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0002 a0005c0006 a0001c0003 a0002c0002 a0005c0006	a0001c0003t0001 a0002c0002t0002 a0005c0006t0002 a0001c0003t0001 a0002c0002t0002 a0005c0006t0002	a0001c0003t0001g0108 a0002c0002t0002g0001 a0002c0002t0002g0012 others(14): Show a0001c0003t0001g0108 a0002c0002t0002g0001 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0016 a0002c0002t0002g0027 a0002c0002t0002g0032 a0002c0002t0002g0038 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0109 a0002c0002t0002g0110 a0005c0006t0002g0001 a0005c0006t0002g0046	81	436	0.1858	221	c.44 others(232): Show c.4434_*4435insCCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAG GGCGGCTGGCCGGGCGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(214): Show ACCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCGGGACGGGGTGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	436	0.0023	221	c.44 others(232): Show c.4434_*4435insCCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCGG GACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAG GGCGGCTGGCCGGGCGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(214): Show ACCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00639.hp1 others(79): Show HG00280.hp1 HG00438.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG06807.hp2 NA18747.hp2 NA18941.hp2 NA18950.hp2 NA18954.hp1 NA18964.hp2 NA18973.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA19000.hp1 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp2 NA19068.hp1 NA20752.hp1 NA20905.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0003 a0004c0007 others(1): Show a0001c0001 a0001c0003 a0004c0007 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0004c0007t0001 a0006c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 others(24): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0002g0029 a0001c0003t0001g0042 a0004c0007t0001g0067 a0006c0008t0001g0011	82	436	0.1881	221	c.44 others(232): Show c.4434_*4435insCCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAG GGCGGCTGGCCGGGCGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(214): Show ACCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAGGGCGGCTGGCCGGGC TGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	436	0.0023	221	c.44 others(232): Show c.4434_*4435insCCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAG GGCGGCTGGCCGGGCTGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(214): Show ACCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGTGGGGGGCTGACCCCCCCACTTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	436	0.0023	221	c.44 others(232): Show c.4434_*4435insCCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACTTCCCGGACAG GGCGGCTGGCCGGGCGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(214): Show ACCTCCCGGATGGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02735.hp1 HG01123.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	2	436	0.0046	221	c.44 others(232): Show c.4434_*4435insCCTCCCGGATGGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAG GGCGGCTGGCCGGGCGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C20orf96_chr20_265863_295750	278933	A A	AGGGAGGG others(214): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAG GGAGGGAGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGG CGGGACGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAG GGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGGAGGGAGG GCGGGACGGAGGGACGGAGGGC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0334 a0001c0003t0001g0334	1	410	0.0024	221	c.465 others(236): Show c.465+238_465+239insGCCCTCCGTCCCTCCGTCCCGCCCTCCCTC CCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCC CGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCGTCCCGCCCTCCCG CCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145637	A A	ATATTATA others(214): Show ATATTATATAATGATATATTATATAATTTATTATATTATATAATGATATA TTATATAATTTATTATATTATATAATGATATATTATATAATTTATTATAT TATATAATGATATATAATTTATTATATTATATAATGATATATAATTTATT ATATTATATAATGATATATAATTTATTATATTATATAATGATATATAATT TATTATATAATGATATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	398	0.0025	221	c.39 others(232): Show c.3902_*3903insAATTATATATCATTATATAATAAATTATATATCA TTATATAATATAATAAATTATATATCATTATATAATATAATAAATTATAT ATCATTATATAATATAATAAATTATATATCATTATATAATATAATAAATT ATATAATATATCATTATATAATATAATAAATTATATAATATATCATTATA TAATATAATAAATTATATAATATATCATTATATAATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3368		chr22	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(214): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGAGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp2 HG06807.hp1 HG02717.hp2 HG03540.hp2 HG06807.hp1	a0005 a0013 a0034 a0005 a0013 a0034	a0005c0005 a0013c0017 a0034c0029 a0005c0005 a0013c0017 a0034c0029	a0005c0005t0002 a0013c0017t0001 a0034c0029t0002 a0005c0005t0002 a0013c0017t0001 a0034c0029t0002	a0005c0005t0002g0009 a0013c0017t0001g0310 a0034c0029t0002g0006 a0005c0005t0002g0009 a0013c0017t0001g0310 a0034c0029t0002g0006	3	326	0.0092	221	c.145 others(238): Show c.145-7382_145-7381insTGGGAGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(214): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGACCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0154 a0003c0003t0001g0180 a0003c0003t0001g0202 a0003c0003t0001g0154 a0003c0003t0001g0180 a0003c0003t0001g0202	3	326	0.0092	221	c.145 others(238): Show c.145-7382_145-7381insTGGGGGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCC CCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar

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