Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FGFR4_chr5_177081915_177103144	177096881	C C	CTCCTCTC others(245): Show CTCCTCTCTTCCTCCTCCTCTCTCCTCCTCCTTCCTCTCTTCTCCTCTCC TCTTCCTCTCTCCTCCTTCCTCATCCTCCTCCTCTCTCTCCTCCTCTCAC TCCTCCTCCTCCACCTCTCTCCTCCTCTCCTCCTCCTTTCTCCTTCTCCT CCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCCTCCTCCTCT TCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCTCCTTCTCCTCCTCCTTC TCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0205 a0004c0009t0005g0205	1	372	0.0027	252	c.215 others(269): Show c.2153+145_2153+146insTCTTCCTCCTCCTCTCTCCTCCTCCTTC CTCTCTTCTCCTCTCCTCTTCCTCTCTCCTCCTTCCTCATCCTCCTCCTC TCTCTCCTCCTCTCACTCCTCCTCCTCCACCTCTCTCCTCCTCTCCTCCT CCTTTCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTC CTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCTC CTTCTCCTCCTCCTTCTCTTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177096905	T T	TTCCTCCT others(245): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTC CTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCT CCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCT TCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	372	0.0027	252	c.215 others(269): Show c.2153+175_2153+176insCTCTTCCTCCTCCTCCTCTTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCT CTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGC TCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTC CTGCTCCTCTTCCTCCTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177096905	T T	TTCCTCCT others(245): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTC CTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCT CCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCT TCC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	372	0.0027	252	c.215 others(269): Show c.2153+175_2153+176insCTCTTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCT CTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGC TCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTC CTGCTCCTCTTCCTCCTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097078	C C	CCTCCTCT others(245): Show CCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCC TCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTC CTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0090 a0003c0010t0001g0090	1	372	0.0027	252	c.215 others(269): Show c.2154-212_2154-211insCCTCTTCCTCCTCCTTCTCTTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCT TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCT CCTCTTCCTCCTTCTCCTCCTGCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FIGN_chr2_163597611_163741008	163660791	G G	GTATACAC others(245): Show GTATACACATATACATATATATGTATATACATATACATATATATGTATAT ACATATACATATATATGTATATACATATACATATATATGTATATACATAT ACATATATATGTATATACATATATATGTATATACATATACATATATATGT ATATACATATATATGTATATACATATACATATATATGTATATACATATAT ATGTATACATATACATATACATATATATGTATATACATATACATATATAT ACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0158 a0001c0001t0005g0158	1	266	0.0038	252	c.26- others(269): Show c.26-48986_26-48985insTGTATATATATGTATATGTATATACATA TATATGTATATGTATATGTATACATATATATGTATATACATATATATGTA TATGTATATACATATATATGTATATACATATATATGTATATGTATATACA TATATATGTATATACATATATATGTATATGTATATACATATATATGTATA TGTATATACATATATATGTATATGTATATACATATATATGTATATGTATA TACATATATATGTATATGTGTATA	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FKBP2_chr11_64236095_64249132	64237115	G G	GAGGGGGA others(245): Show GAGGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGACAGAGACA GAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	252	c.-40 others(263): Show c.-4022_-4021insAGGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACAG AGACAGACAGAGACAGAC	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3979		chr11	TogoVar
FKRP_chr19_46741057_46763575	46753337	A A	ATCCCAGC others(245): Show ATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GTGGAGGTTGCGGTGAGCCTAGATGGCGCCATTGCACTTCACCCTGGGTA ACGAGAGTGAAACTTTGTATCAAAAGAAAATATATATATATGTGTGTATA TATATATATACACACATATATATATACACATATATATGTGTGTGTGTGTA TATATATATATATATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTG TAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	430	0.0023	252	c.-39 others(269): Show c.-39-2033_-39-2032insCTGGGAGGTGGAGGTTGCGGTGAGCCTA GATGGCGCCATTGCACTTCACCCTGGGTAACGAGAGTGAAACTTTGTATC AAAAGAAAATATATATATATGTGTGTATATATATATATACACACATATAT ATATACACATATATATGTGTGTGTGTGTATATATATATATATATAAATAA AATTAGCCAGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGG CTGAGGCAGGAGAATCGCTTGAAC	FKRP	ENSG00000181027.11	transcript	ENST00000318584.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FLT3_chr13_27998274_28105576	27999069	G G	GTATATAA others(245): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TACATACATATAAATATATATTTACATACATATAAATATATATATTTATA TACATATAATACATATACATATATACATATAAATATATATTTATATACAT ATAAATATATATATATTTATATACATATAAATATATATATATTTATATAT ATATATTTATATACATATAAATATATAATTATATACATATAAATATATAT AAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0134 a0001c0004t0002g0134	1	292	0.0034	252	c.49 others(263): Show c.4982_*4983insATTATATATATTTATATGTATATAATTATATATT TATATGTATATAAATATATATATATAAATATATATATATTTATATGTATA TAAATATATATATATTTATATGTATATAAATATATATTTATATGTATATA TGTATATGTATTATATGTATATAAATATATATATTTATATGTATGTAAAT ATATATTTATATGTATGTAAATATATATATTTATATGTATATAATATACA TACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4204		chr13	TogoVar
FNDC10_chr1_1593012_1605135	1595642	G G	GACAGAGA others(245): Show GACAGAGAGGCAGACAGAGAGAGAGAGACAGACAGAGAGCAGAACAGGGA GAGACAAAGAGACAGAGAGAGAGAGAGACACAGAGAGAGAGAGACAGAGA GAGGCAGACAGAGACAGAGAGACAGACAGACACAGAGCAGAACAGGGAGA GACAGAGAGAGAGAGACAGAGAGAGGCAGACAGAGAGAGAGAGACAGACA CAGAGAGAGCAGAACAGGGAGAAACAGAGAGACAGAGAGCGAGAGAGACA GAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02895.hp2 HG02897.hp1 others(3): Show HG01109.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0015 a0001c0003t0003 a0001c0001t0003 a0001c0001t0015 a0001c0003t0003	a0001c0001t0003g0000 a0001c0001t0015g0000 a0001c0003t0003g0000 a0001c0001t0003g0000 a0001c0001t0015g0000 a0001c0003t0003g0000	6	406	0.0148	252	c.36 others(263): Show c.3692_*3693insGTCTGTCTCTCTCGCTCTCTGTCTCTCTGTTTCT CCCTGTTCTGCTCTCTCTGTGTCTGTCTCTCTCTCTCTGTCTGCCTCTCT CTGTCTCTCTCTCTCTGTCTCTCCCTGTTCTGCTCTGTGTCTGTCTGTCT CTCTGTCTCTGTCTGCCTCTCTCTGTCTCTCTCTCTCTGTGTCTCTCTCT CTCTCTGTCTCTTTGTCTCTCCCTGTTCTGCTCTCTGTCTGTCTCTCTCT CTCTGTCTGCCTCTCTGT	FNDC10	ENSG00000228594.4	transcript	ENST00000422725.4	protein_coding		2369		chr1	TogoVar
FOXJ3_chr1_42171548_42340235	42222001	G G	GAGGGGGA others(245): Show GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAG AAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	332	0.0030	252	c.528 others(269): Show c.528+5881_528+5882insTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTCCTCCTCCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCT	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FRMPD4_chrX_12133473_12729523	12331801	T T	TTATATAT others(245): Show TTATATATTATATATTTATATACTATATATAAATTATATAATTTATATAC TATATATAAATTATATAATTTATATATAGTATATAAATTATATAATTTAT ATATAGTATATAAATTATATATATTTATATACTATATATAAATTATATAT ATTTATATACTATATATAAATTATATATATTTATATACTATATATAAATT ATATATATTTATATACTATATATAAATATATATATTTATATACTATATAT AAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02293.hp1 NA19043.hp1 HG02055.hp1 HG02293.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0013 a0002c0015 a0002c0003 a0002c0013 a0002c0015	a0002c0003t0009 a0002c0013t0005 a0002c0015t0001 a0002c0003t0009 a0002c0013t0005 a0002c0015t0001	a0002c0003t0009g0006 a0002c0013t0005g0005 a0002c0015t0001g0004 a0002c0003t0009g0006 a0002c0013t0005g0005 a0002c0015t0001g0004	3	174	0.0172	252	c.42- others(271): Show c.42-166872_42-166871insTATATATTTATATACTATATATAAAT TATATAATTTATATACTATATATAAATTATATAATTTATATATAGTATAT AAATTATATAATTTATATATAGTATATAAATTATATATATTTATATACTA TATATAAATTATATATATTTATATACTATATATAAATTATATATATTTAT ATACTATATATAAATTATATATATTTATATACTATATATAAATATATATA TTTATATACTATATATAAATATATAT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182714	A A	ACTATACA others(245): Show ACTATACACTGTATATGTATATATAGTGTATATATACACTATACACTGTA TATGTATATATAGTGTATATATACACTATACACTGTATATGTATATATAG TGTATATATACACTATACACTGTATATGTATATATAGTGTATATATACAC TATACACTGTATATGTATATATAGTGTATATATACACTATACACTGTATA TGTATATATAGTGTATATATACACTATATATACACTATATAGTGTATATA TAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03453.hp2 others(4): Show HG02896.hp1 HG02897.hp2 HG03453.hp2 NA18939.hp2 NA18948.hp1 NA19010.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0119 a0001c0001t0001g0148 a0001c0001t0001g0149 others(4): Show a0001c0001t0001g0119 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027	7	204	0.0343	252	c.114 others(271): Show c.1143+7015_1143+7016insCTATATATACACTATATAGTGTATAT ATAGTGTATATATACACTATATATACATATACAGTGTATAGTGTATATAT ACACTATATATACATATACAGTGTATAGTGTATATATACACTATATATAC ATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTAT AGTGTATATATACACTATATATACATATACAGTGTATAGTGTATATATAC ACTATATATACATATACAGTGTATAG	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(245): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGGATGGGG GCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	364	0.0028	252	c.-20 others(261): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGG GAGGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGG GGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(245): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG GAGGGGGAGGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGG GCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	364	0.0028	252	c.-20 others(261): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGGAGGGGGAGGGGGGGAGGGGAGAAGACGGGCAGCGGG AGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGG GGAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGG GGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(245): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGG GAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGG CGGGGGGGAGGGGATGGGCGGGGGGGGAGGGGAGGGGGGCGGGGGGGAGG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0022	1	364	0.0028	252	c.-20 others(261): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCG CGGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGA GGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGG GAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGGAGGGGAGGGG GGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(245): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGG GAGGGGGAGGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGG GCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	364	0.0028	252	c.-20 others(261): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCG CGGGGTGGGGGGGGAGGGGGAGGGGGGGAGGGGAGAAGACGGGCAGCGGG AGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGG GGAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGG GGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(245): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGG GGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGG GCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	364	0.0028	252	c.-20 others(261): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCG CGGGGTGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGG AGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGG GGAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGG GGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(245): Show CGGGGGGCGGGGGGAGGAGAGGGGGGGAGAGGGGAGGGGACCGGGTAGGG TGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGG GGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGG GCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	364	0.0028	252	c.-20 others(261): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGGAGAGGGGAGG GGACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGC GCGGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGG AGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGG GGAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGG GGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(245): Show CGGGGGGCGGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGG TGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGG GAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGG GCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	1	364	0.0028	252	c.-20 others(261): Show c.-204_-203insGGGGGGCGGGGGGGAGGAGAGGGGGGAGAGGGGAGG GGACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCG CGGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGA GGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGG GGAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGG GGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019227	C C	CGGGGGAG others(245): Show CGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGTGGGGGGGG AGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGGGAGGGGGA GGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAGGGGATGG GGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGG AGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGGAGGGGAGGGGG GCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	364	0.0028	252	c.-19 others(261): Show c.-197_-196insGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGT AGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGG GGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGG GGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGAT GGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGG GGAGGGGAGGGGGGCG	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		117		chr1	TogoVar
GALNS_chr16_88808734_88861947	88831499	G G	GAGCGGTG others(245): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGAGGACAGCGGTGAGGCGGAGCACGGGGTGCGTGGGGAGGAGAGCGG TGAGGCGGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCGGAGCACG GGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAG GAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	404	0.0025	252	c.100 others(269): Show c.1002+498_1002+499insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTCCCCACGCACCCCGT GCTCCGCCTCACCGCTGTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACG CACCCCGTGCTCGGCCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831691	C C	CGAGCACG others(245): Show CGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGC GGTGAGGCCGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCA CGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGG AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	404	0.0025	252	c.100 others(269): Show c.1002+306_1002+307insCGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTC ACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCC CACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGC TCGGCCTCACCGCTCTCCCCCCCACGCACCCCGTGCTCGGCCTCACCGCT CTCCTCCCCACGCACCCCGTGCTC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831751	G G	GAGCGGTG others(245): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGG TGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACG GGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAG GAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0364 a0001c0001t0001g0364	1	404	0.0025	252	c.100 others(269): Show c.1002+246_1002+247insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACG CACCCCGTGCTCGGCCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GLB1L3_chr11_134271379_134324564	134308467	C C	CCATGTCC others(245): Show CCATGTCCACCACCACTACCACCACCATCACCATCACCATCACCACCACC ACCACCACCATCACCATCACCATCATCACCATCACCACTACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCATCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCATCACCACCATCACCATCACCACCACCACCAC CAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03098.hp1 NA19043.hp2 others(2): Show HG01192.hp1 HG03098.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0005 a0007c0018 a0001c0005 a0007c0018	a0001c0005t0002 a0001c0005t0005 a0007c0018t0005 a0001c0005t0002 a0001c0005t0005 a0007c0018t0005	a0001c0005t0002g0099 a0001c0005t0005g0006 a0001c0005t0005g0085 others(1): Show a0001c0005t0002g0099 a0001c0005t0005g0006 a0001c0005t0005g0085 a0007c0018t0005g0006	5	422	0.0119	252	c.962 others(269): Show c.962-1157_962-1156insTGTCCACCACCACTACCACCACCATCAC CATCACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCA TCACCACTACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCATCATCACCATCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCATCA CCATCACCACCACCACCACCATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GPR137B_chr1_236137539_236213907	236186254	A A	AATATATA others(245): Show AATATATAATATATATAATAATATAAATAATATATAATATATAATATATA TAATAATATAAATAATATATAATATATATTATATATAATAATATAAATAA TATATAATATATATTATATATAATAATATAAATAATATATAATATATATT ATATATAATAATATAAATAATATATAATATATATTATATATAATAATATA AATAATATATAATATATATTATATATAATAATATAAATAATATATAATAT ATT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	386	0.0026	252	c.966 others(269): Show c.966+2355_966+2356insATATATATAATAATATAAATAATATATA ATATATAATATATATAATAATATAAATAATATATAATATATATTATATAT AATAATATAAATAATATATAATATATATTATATATAATAATATAAATAAT ATATAATATATATTATATATAATAATATAAATAATATATAATATATATTA TATATAATAATATAAATAATATATAATATATATTATATATAATAATATAA ATAATATATAATATATTATATATA	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
GPR137B_chr1_236137539_236213907	236186262	T T	TTATATAT others(245): Show TTATATATAATAATATAAATAATATATAATATATATTATATATAATAATA TAAATAATATATAATATATATTATATATAATAATATAAATAATATATAAT ATATATTATATATAATAATATAAATAATATATAATATATATTATATATAA TAATATAAATAATATATAATATATATTATATATAATAATATAAATAATAT ATAATATATATTATATATAATAATATAAATAATATATAATATATTATATA TAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(39): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG01192.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02735.hp1 HG02895.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18939.hp2 NA18946.hp2 NA18950.hp1 NA18956.hp1 NA18963.hp1 NA18966.hp2 NA18973.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA19007.hp2 NA19056.hp1 NA19057.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0008 others(1): Show a0001c0001 a0001c0006 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0006t0001 a0001c0008t0001 a0002c0003t0001	a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0088 others(39): Show a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0167 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0330 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0001g0366 a0001c0001t0001g0369 a0001c0001t0001g0371 a0001c0001t0001g0374 a0001c0001t0002g0228 a0001c0001t0002g0297 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0253 a0001c0001t0003g0309 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0005g0061 a0001c0006t0001g0324 a0001c0008t0001g0080 a0002c0003t0001g0256	42	386	0.1088	252	c.966 others(269): Show c.966+2363_966+2364insAATAATATAAATAATATATAATATATAT TATATATAATAATATAAATAATATATAATATATATTATATATAATAATAT AAATAATATATAATATATATTATATATAATAATATAAATAATATATAATA TATATTATATATAATAATATAAATAATATATAATATATATTATATATAAT AATATAAATAATATATAATATATATTATATATAATAATATAAATAATATA TAATATATTATATATAATATATAT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
GRAMD4_chr22_46615386_46684785	46643180	C C	CATTTATC others(245): Show CATTTATCCATCCCTGGATCCATCCATCCATCCATCCATCCATCCATCCG TCCATCCATCTATCCATCCATCCATTTATCCATCCATCCATCCATCCATC CATCCATCCACCCACCCACCCACCCATCCATCCATCTATCCATTTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCTGGATCCATC TGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATGCA TCT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0088 a0001c0002t0004g0088	1	328	0.0031	252	c.283 others(269): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CACATATA others(245): Show CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACATATATATACACATATATGTGTACACATA TATATACACATATATGTGTACACATATATATACACATATATGTACACATA TATATATACATATATATGTACACATATATATATACATATATATGTACACA TAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	418	0.0024	252	c.167 others(269): Show c.1678-387_1678-386insCATATATGTGTACACATATATATACACA TATATGTGTACACATATATATACACATATATGTGTACACATATATATACA CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTACACATATATATATACATATATATGTACACATATATA TATACATATATATGTACACATATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATG others(245): Show CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACATATATATACACATATATGTGTACACATA TATATACACATATATATGTACACATATATATATACATATATATGTACACA TAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0254 a0002c0002t0002g0254	1	418	0.0024	252	c.167 others(269): Show c.1678-384_1678-383insATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATGTGTACACATATATATACACATATATGTGTACACATATATATACAC ATATATGTGTACACATATATATACACATATATATGTACACATATATATAT ACATATATATGTACACATATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GTPBP6_chrX_299759_323796	316004	C C	CACACACA others(245): Show CACACACACACACACACACACACTAAATACATCCCGACAGGGACAGACAC AGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGG GACACAAACACATACACACGCAGACACACACACACACACAAACACACAGT AAATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAG ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACG CAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02109.hp1 HG02451.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0001 a0008c0009t0001g0001	2	155	0.0129	252	c.488 others(267): Show c.488-706_488-705insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA GTGTGTGTGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HNF1A_chr12_120973543_121007512	120987987	G G	GTCCATCC others(245): Show GTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATC CATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCAC CAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTA CCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATC CATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAA CCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00558.hp2 others(50): Show HG00408.hp1 HG00558.hp1 HG00558.hp2 HG01167.hp1 HG01884.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03195.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18998.hp2 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19067.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0003t0001 a0003c0005t0002 a0003c0005t0018	a0001c0001t0001g0167 a0001c0001t0001g0210 a0001c0001t0003g0010 others(40): Show a0001c0001t0001g0167 a0001c0001t0001g0210 a0001c0001t0003g0010 a0001c0001t0003g0032 a0001c0001t0003g0066 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0122 a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0197 a0001c0001t0010g0218 a0001c0003t0001g0031 a0003c0005t0002g0002 a0003c0005t0002g0094 a0003c0005t0002g0095 a0003c0005t0002g0099 a0003c0005t0002g0100 a0003c0005t0002g0101 a0003c0005t0002g0148 a0003c0005t0002g0157 a0003c0005t0018g0002	53	410	0.1293	252	c.327 others(267): Show c.327-762_327-761insTACCCACCCACCCACCAATCCATCCATCCA TTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCA ATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACC CACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCA TCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACC ATCCATCCATCCATCATCCATC	HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
HNF1A_chr12_120973543_121007512	120988009	T T	TACCCACC others(245): Show TACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCA TCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCC AACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCATC CATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCAC CCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCA TCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03540.hp1 HG02559.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0008g0246 a0001c0001t0008g0247	2	410	0.0049	252	c.327 others(267): Show c.327-755_327-504dupCCCACCCACCAATCCATCCATCCATTCATC CAACCATCCATCCATCCATCATCCATCCACCCACCCACCCACCAATCCAT CCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCA CCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCC ATCCACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCAT CCATCCATCATCCATCCACCCA	HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
IL17REL_chr22_49986811_50017765	50009894	T T	TGGCGGCA others(245): Show TGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGG TGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGG CAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCT CAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGA ATC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG02735.hp1 others(10): Show HG00733.hp1 HG01074.hp1 HG02735.hp1 HG03209.hp1 HG03669.hp2 HG03704.hp2 NA18948.hp2 NA18952.hp2 NA18971.hp1 NA18977.hp2 NA19070.hp2 NA19082.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0020 a0001c0001t0047 others(3): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0047 a0002c0002t0003 a0002c0002t0036 a0003c0004t0016	a0001c0001t0001g0276 a0001c0001t0020g0072 a0001c0001t0047g0100 others(6): Show a0001c0001t0001g0276 a0001c0001t0020g0072 a0001c0001t0047g0100 a0002c0002t0003g0013 a0002c0002t0003g0053 a0002c0002t0003g0277 a0002c0002t0003g0278 a0002c0002t0036g0310 a0003c0004t0016g0070	13	440	0.0296	252	c.103 others(269): Show c.103-1231_103-1230insGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCC ACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGG GTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCG CCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCA GACTGAGGGTCACTGACTGCCGCC	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14			chr22	TogoVar
IRAG2_chr12_25047706_25113335	25106550	G G	GTACAGTA others(245): Show GTACAGTAGTGCAACCATAGCTCACTACAGCCTCCAACTCCAGGGCTCAA GCAATCCCTGGAGTCCTGAGATCCTTGGGAGGAATCCCCTTTCTTGGCCT CCCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTATGGTTAAACATGCAC ACACACACACATATATAGTTTTGGAAACAATCTGCCTCCCACCCTTTGTA ACTATTAGGATTAAAGAAATGCATATACATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18989.hp2 HG02818.hp2 NA18989.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0005 a0003c0003 a0006c0005	a0003c0003t0002 a0006c0005t0001 a0003c0003t0002 a0006c0005t0001	a0003c0003t0002g0128 a0006c0005t0001g0019 a0003c0003t0002g0128 a0006c0005t0001g0019	2	344	0.0058	252	c.114 others(269): Show c.1149-392_1149-391insACAGTAGTGCAACCATAGCTCACTACAG CCTCCAACTCCAGGGCTCAAGCAATCCCTGGAGTCCTGAGATCCTTGGGA GGAATCCCCTTTCTTGGCCTCCCAAAGTGCTGAGATTAAAGTGTTTAATA AAGTATGGTTAAACATGCACACACACACACATATATAGTTTTGGAAACAA TCTGCCTCCCACCCTTTGTAACTATTAGGATTAAAGAAATGCATATACAT ATATATATATATATATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITIH5_chr10_7554270_7671966	7629103	G G	GTCCATGT others(245): Show GTCCATGTTGCAGCGTGTGTCCATGTTGCAGCGTGTGTCCATGTTGTAGC GTGTGTCCATGTTATCATATGTATCTGTGTTTTTGCATGTGTCCATGTTG TAGCGTGTGTCCCTGTTGTAGCGTGTGTCCCTGTTGTAGCGTGTGTCCAT GTTGTAGCGTGTGTCCGTGTTGTAGCGTGTGTCCGTGTTGTGGCACGCAT CCATGTTATCATATGTATCTGTGTTTTCACATGTGTCCATGTTGTAGCGT GTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp1 HG01884.hp2 NA20300.hp1	a0000 a0000	a0000c0014 a0000c0025 a0000c0014 a0000c0025	a0000c0014t0004 a0000c0025t0004 a0000c0014t0004 a0000c0025t0004	a0000c0014t0004g0195 a0000c0025t0004g0264 a0000c0014t0004g0195 a0000c0025t0004g0264	2	342	0.0059	252	c.652 others(269): Show c.652+8124_652+8125insTACACGCTACAACATGGACACATGTGAA AACACAGATACATATGATAACATGGATGCGTGCCACAACACGGACACACG CTACAACACGGACACACGCTACAACATGGACACACGCTACAACAGGGACA CACGCTACAACAGGGACACACGCTACAACATGGACACATGCAAAAACACA GATACATATGATAACATGGACACACGCTACAACATGGACACACGCTGCAA CATGGACACACGCTGCAACATGGA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13			chr10	TogoVar
IZUMO4_chr19_2091915_2104590	2104353	G G	GAGACGCC others(245): Show GAGACGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCC AACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGACGCCAACACCCA GACCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAA TGCCGAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAACGCCAAGG CACCAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACT CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	252	c.50 others(263): Show c.5008_*5009insAGACGCCAACACCCAGACCCCAACGCCAAGGCAC CAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACTCCA AGACGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCCA ACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGACGCCAACACCCAG ACCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAAT GCCGAGGCACCAACTCCA	IZUMO4	ENSG00000099840.14	transcript	ENST00000395301.8	protein_coding		4764		chr19	TogoVar
IZUMO4_chr19_2091915_2104590	2104353	G G	GAGACGCC others(245): Show GAGACGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCC AACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGATGCCAACACCCA GACCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAA TGCCGAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAACGCCAAGG CACCAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACT CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00642.hp1 others(63): Show HG00408.hp1 HG00597.hp1 HG00642.hp1 HG01070.hp2 HG01243.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02083.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02622.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18951.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18969.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19082.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0009 others(1): Show a0001c0001 a0002c0002 a0004c0009 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0004c0009t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0029 a0002c0002t0001g0002 a0002c0002t0001g0010 a0004c0009t0001g0020 a0005c0008t0001g0021	66	454	0.1454	252	c.50 others(263): Show c.5008_*5009insAGACGCCAACACCCAGACCCCAACGCCAAGGCAC CAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACTCCA AGATGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCCA ACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGACGCCAACACCCAG ACCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAAT GCCGAGGCACCAACTCCA	IZUMO4	ENSG00000099840.14	transcript	ENST00000395301.8	protein_coding		4764		chr19	TogoVar
IZUMO4_chr19_2091915_2104590	2104353	G G	GAGACGCC others(245): Show GAGACGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCC AACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGATGCCAACACCCA GACCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAA TGCCGAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAACGCCGAGG CACCAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACT CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0010	1	454	0.0022	252	c.50 others(263): Show c.5008_*5009insAGACGCCAACACCCAGACCCCAACGCCAAGGCAC CAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACTCCA AGATGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCCA ACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGACGCCAACACCCAG ACCCCAACGCCGAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAAT GCCGAGGCACCAACTCCA	IZUMO4	ENSG00000099840.14	transcript	ENST00000395301.8	protein_coding		4764		chr19	TogoVar
IZUMO4_chr19_2091915_2104590	2104353	G G	GAGACGCC others(245): Show GAGACGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCC AACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGATGCCAACACCCA GACCCCAACGCCAAGGCACCAACTCCAAGATGCCAACACCCAGACCCCAA TGCCGAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAACGCCAAGG CACCAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACT CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	454	0.0022	252	c.50 others(263): Show c.5008_*5009insAGACGCCAACACCCAGACCCCAACGCCAAGGCAC CAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACTCCA AGATGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGATGCCA ACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGACGCCAACACCCAG ACCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAAT GCCGAGGCACCAACTCCA	IZUMO4	ENSG00000099840.14	transcript	ENST00000395301.8	protein_coding		4764		chr19	TogoVar
JPH2_chr20_44101590_44192188	44134139	A A	AATAAATA others(245): Show AATAAATATTTATTATAAATATATAAATAAATATTTATTATAAATATATA AATATTTATTATAAATATATAAATATTATAAATATATAAATATTTATTAT AAATATATAAATATTTATTATAAATATATAAATATTTATTATAAATATAT AAATATTTATTATAAATATATAAATATTTATTATAAATATATAAATATTT ATTATAAATATATAAATATTTATTATAAATATATAAATATTTATTATAAA TAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0056 a0001c0004t0008g0056	1	338	0.0030	252	c.117 others(273): Show c.1170-15517_1170-15516insATATTTATAATAAATATTTATATA TTTATAATAAATATTTATATATTTATAATAAATATTTATATATTTATAAT AAATATTTATATATTTATAATAAATATTTATATATTTATAATAAATATTT ATATATTTATAATAAATATTTATATATTTATAATAAATATTTATATATTT ATAATATTTATATATTTATAATAAATATTTATATATTTATAATAAATATT TATTTATATATTTATAATAAATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KALRN_chr3_124028369_124731325	124673442	A A	ACATATAG others(245): Show ACATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAATATA TATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGT ATGTATATGCAGATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0016 a0001c0067t0016	a0001c0067t0016g0103 a0001c0067t0016g0103	1	116	0.0086	252	c.694 others(269): Show c.6943-887_6943-886insGCATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCAGAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATGCATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAATA TATATGTATATCCTGTATGTATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124673478	A A	ACATATAG others(245): Show ACATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAATATA TATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0012 a0001c0041t0012	a0001c0041t0012g0105 a0001c0041t0012g0105	1	116	0.0086	252	c.694 others(269): Show c.6943-851_6943-850insGCATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATGCATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAATA TATATGTATATCCTGTATGTATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124673514	A A	ACATATAG others(245): Show ACATATAGAATATATATGTATATCCTGTATGTATATACATATAGAATATA TATGTATATCCTGTATGTATATACATATAGAATATATATGTATATCCTGT ATGTATATACATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATACATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0030 a0001c0034t0001g0030	1	116	0.0086	252	c.694 others(269): Show c.6943-815_6943-814insACATATAGAATATATATGTATATCCTGT ATGTATATACATATAGAATATATATGTATATCCTGTATGTATATACATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATACATATAGAATATATATGTATATCCTGTATGTAT ATGCATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAATA TATATGTATATCCTGTATGTATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124673514	A A	ACATATAG others(245): Show ACATATAGAATATATATGTATATCCTGTATGTATATACATATAGAATATA TATGTATATCCTGTATGTATATACATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0001 a0001c0055t0001	a0001c0055t0001g0031 a0001c0055t0001g0031	1	116	0.0086	252	c.694 others(269): Show c.6943-815_6943-814insACATATAGAATATATATGTATATCCTGT ATGTATATACATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATATGCATATAGAATATATATGTA TATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGTAT ATGCATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAATA TATATGTATATCCTGTATGTATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNJ6_chr21_37602373_37921457	37712635	C C	CTCCTCCC others(245): Show CTCCTCCCCTTCTCCTCCTCTCCTTCCTCCCTTTCTCTTCCCTCCCTCCT CCTCCCTCCCTCCTCCCCTTCTCCTCCTCTCCTTCCTCCCTTTCTCTTCC CTCCCTCCTCCCCTCCTCCTCTCTCCCTCCTCTTCCCTCCCTCCTCCTCC TCTCCTTTCTCCCTTTCTCTTCCCTCCTTCCTCCCCTTCTCCTCCTCTCC TTCCTCCCTTCTCCCCTTCTCCTCCTCTCCTTCCTCCCTTTCTCTTCCCT CCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03471.hp1 NA19240.hp1 HG02145.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0035 a0001c0001t0043 a0001c0001t0031 a0001c0001t0035 a0001c0001t0043	a0001c0001t0031g0085 a0001c0001t0035g0160 a0001c0001t0043g0170 a0001c0001t0031g0085 a0001c0001t0035g0160 a0001c0001t0043g0170	3	198	0.0152	252	c.946 others(269): Show c.946+1575_946+1576insAGGAGGGAAGAGAAAGGGAGGAAGGAGA GGAGGAGAAGGGGAGAAGGGAGGAAGGAGAGGAGGAGAAGGGGAGGAAGG AGGGAAGAGAAAGGGAGAAAGGAGAGGAGGAGGAGGGAGGGAAGAGGAGG GAGAGAGGAGGAGGGGAGGAGGGAGGGAAGAGAAAGGGAGGAAGGAGAGG AGGAGAAGGGGAGGAGGGAGGGAGGAGGAGGGAGGGAAGAGAAAGGGAGG AAGGAGAGGAGGAGAAGGGGAGGA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(245): Show GATATATATATATCCAAGAGGATATATATATATACACAAGAGGATATATA TATATACACACAAGAGGATATATATATGTACACACAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	232	0.0043	252	c.-67 others(271): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATACACAA GAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATAT CCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(245): Show GATATATATATATCCAAGAGGATATATATATATACACAAGAGGATATATA TATATACACACAAGAGGATATATATATGTACACACAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATA TAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	232	0.0043	252	c.-67 others(271): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATACACAA GAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(245): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATATGTACACACAAGAGGATATATATA TATGTACACACAAGAGGATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	232	0.0043	252	c.-67 others(271): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATGTACACACAAGA GGATATATATATATGTACACACAAGAGGATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATAT CCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(245): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACACAAGAGGATATATATATGTACACACAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATA TATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGA TAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	232	0.0043	252	c.-67 others(271): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACACAAGAGGATATATATATGTACACACAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATATCC AAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATAT ATCCAAGAGGATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758459	T T	TATATATA others(245): Show TATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAG GATATATATATATATATATCCAAGAGGATATATATATATATATATATCCA AGGGGATATATATATATCCAAGGGGATATATATATATATATCTCCAAGGG GATATATATATATATATATATATATCTCCAAGGGGATATATATATATATA TATATATATATCTCCAAGGGGATATATATATATATATATATATCTCCAAG GGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp2 HG02647.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0215 a0001c0001t0003g0216	2	232	0.0086	252	c.-67 others(271): Show c.-67-48877_-67-48876insTATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATATCCAAGGGGATATATATATATCCAAGGGGATATATATA TATATATCTCCAAGGGGATATATATATATATATATATATATCTCCAAGGG GATATATATATATATATATATATATATCTCCAAGGGGATATATATATATA TATATATATCTCCAAGGGGATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar

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