Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18940.hp2 NA19011.hp2 HG00735.hp2 NA18940.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0206 a0001c0001t0001g0238 a0001c0001t0001g0044 a0001c0001t0001g0206 a0001c0001t0001g0238	3	266	0.0113	27	c.459 others(44): Show c.459-5666_459-5640dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	204	0.0049	27	c.108 others(46): Show c.1081-5888_1081-5887insTATATATATATATATATATATATATA T	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554039	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	204	0.0049	27	c.108 others(46): Show c.1081-5906_1081-5905insATATATATATATATATATATATATAT A	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRG1_chr4_46030769_46129054	46105795	A A	AGATAGAT others(20): Show AGATAGATGGATGGGTAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0015 a0001c0002t0008g0015	1	308	0.0033	27	c.105 others(44): Show c.105-8447_105-8446insATCTATCTATCTACCCATCCATCTATC	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GABRG3_chr15_26966181_27546984	27062434	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0061 a0001c0004t0002g0061	1	92	0.0109	27	c.270 others(46): Show c.270+35637_270+35638insAAAAAAAAAAAAAAAAAAAAAAAAAA A	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27145603	C C	CTCTATCT others(20): Show CTCTATCTATCTATCTATCTATCATCTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG01261.hp2 others(7): Show HG00323.hp1 HG01070.hp1 HG01261.hp2 HG01433.hp1 HG01517.hp1 HG02717.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0025 a0001c0002t0033 others(5): Show a0001c0001t0001 a0001c0001t0025 a0001c0002t0033 a0001c0003t0022 a0001c0004t0010 a0001c0006t0003 a0001c0009t0010 a0001c0010t0017	a0001c0001t0001g0036 a0001c0001t0001g0076 a0001c0001t0001g0086 others(7): Show a0001c0001t0001g0036 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0025g0092 a0001c0002t0033g0030 a0001c0003t0022g0058 a0001c0004t0010g0075 a0001c0006t0003g0069 a0001c0009t0010g0051 a0001c0010t0017g0003	10	92	0.1087	27	c.270 others(48): Show c.270+118804_270+118805insATCTATCTATCTATCTATCTATCT ATC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27145606	T T	TATCTATC others(20): Show TATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03710.hp1 HG04115.hp1 others(1): Show HG00738.hp2 HG03710.hp1 HG04115.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0014 a0001c0001t0001 a0001c0002t0001 a0001c0003t0014	a0001c0001t0001g0044 a0001c0001t0001g0087 a0001c0002t0001g0079 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0087 a0001c0002t0001g0079 a0001c0003t0014g0011	4	92	0.0435	27	c.270 others(48): Show c.270+118786_270+118812dupATCTATCTATCTATCTATCTATCT ATC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27265882	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18906.hp1 NA18906.hp2 others(1): Show HG02717.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0003t0001 a0001c0003t0009 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0009 a0001c0012t0003	a0001c0001t0001g0038 a0001c0003t0001g0066 a0001c0003t0009g0059 others(1): Show a0001c0001t0001g0038 a0001c0003t0001g0066 a0001c0003t0009g0059 a0001c0012t0003g0068	4	92	0.0435	27	c.271 others(46): Show c.271-60912_271-60911insTTTTTTTTTTTTTTTTTTTTTTTTTT T	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27306738	T T	TACAATAT others(20): Show TACAATATAAACATGTTTATATATAAAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0030 a0001c0002t0033g0030	1	92	0.0109	27	c.271 others(46): Show c.271-20070_271-20069insCAATATAAACATGTTTATATATAAAC A	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307855	A A	ATATAAAT others(20): Show ATATAAATATATATAAAATAAACATGTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG02451.hp1 others(4): Show HG01099.hp1 HG01891.hp1 HG02451.hp1 HG02717.hp2 HG03471.hp2 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0001c0012 a0001c0014 a0001c0016 a0001c0017	a0001c0001t0028 a0001c0004t0011 a0001c0006t0013 others(4): Show a0001c0001t0028 a0001c0004t0011 a0001c0006t0013 a0001c0012t0003 a0001c0014t0024 a0001c0016t0001 a0001c0017t0001	a0001c0001t0028g0054 a0001c0004t0011g0078 a0001c0006t0013g0017 others(4): Show a0001c0001t0028g0054 a0001c0004t0011g0078 a0001c0006t0013g0017 a0001c0012t0003g0068 a0001c0014t0024g0057 a0001c0016t0001g0074 a0001c0017t0001g0039	7	92	0.0761	27	c.271 others(46): Show c.271-18938_271-18937insATAAACATGTTTATAAATATATATAA A	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27336234	G G	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0054 a0001c0001t0028g0054	1	92	0.0109	27	c.574 others(44): Show c.574+7346_574+7347insAGAGAGAGAGAGAGAGAGAGAGAGAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27388306	A A	AGGAAAGG others(20): Show AGGAAAGGAGGAAGGAAGGAAAGGGAGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0080 a0001c0002t0027g0080	1	92	0.0109	27	c.574 others(46): Show c.574+59418_574+59419insGGAAAGGAGGAAGGAAGGAAAGGGAG G	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27388372	G G	GGAAGGAA others(20): Show GGAAGGAACAAAAGGGAGGGAGGGAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	92	0.0109	27	c.574 others(46): Show c.574+59491_574+59492insCAAAAGGGAGGGAGGGAAAAGAAGGA A	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27388372	G G	GGAAGGAA others(20): Show GGAAGGAACGAAAGGGAGGGAGGGAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 NA20752.hp1 HG00738.hp1 HG01261.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0027 a0001c0001t0001 a0001c0002t0001 a0001c0002t0027	a0001c0001t0001g0086 a0001c0002t0001g0041 a0001c0002t0027g0080 a0001c0001t0001g0086 a0001c0002t0001g0041 a0001c0002t0027g0080	3	92	0.0326	27	c.574 others(46): Show c.574+59491_574+59492insCGAAAGGGAGGGAGGGAAAAGAAGGA A	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89292555	T T	TATATATC others(20): Show TATATATCAGATATATATCGTATCTCTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01099.hp1 others(6): Show HG00280.hp1 HG01074.hp1 HG01099.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG02602.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0124 others(5): Show a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0003g0003 a0001c0001t0003g0129 a0001c0001t0005g0266 a0001c0001t0006g0196 a0001c0001t0006g0267	9	366	0.0246	27	c.220 others(44): Show c.220+7203_220+7204insCAGAGATACGATATATATCTGATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GABRR2_chr6_89249464_89320299	89292586	T T	TATATATC others(20): Show TATATATCAGATATATATCGTATCTCTG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	366	0.0027	27	c.220 others(44): Show c.220+7172_220+7173insCAGAGATACGATATATATCTGATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GABRR2_chr6_89249464_89320299	89292617	T T	TATATATC others(20): Show TATATATCAGATATATATCGTATCTCTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp2 HG00738.hp1 others(13): Show HG00544.hp2 HG00733.hp2 HG00738.hp1 HG01261.hp2 HG01978.hp1 HG02015.hp2 HG02647.hp1 HG03834.hp1 NA18945.hp2 NA18960.hp2 NA18974.hp2 NA18993.hp1 NA18994.hp2 NA19002.hp2 NA19003.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0002c0004t0002	a0001c0001t0006g0304 a0001c0002t0001g0074 a0001c0002t0001g0075 others(13): Show a0001c0001t0006g0304 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0108 a0001c0002t0001g0111 a0001c0002t0001g0265 a0001c0002t0003g0027 a0001c0002t0003g0061 a0001c0002t0003g0114 a0001c0002t0003g0147 a0001c0002t0005g0036 a0001c0002t0005g0126 a0001c0002t0005g0268 a0001c0002t0007g0112 a0001c0002t0012g0062 a0002c0004t0002g0319	16	366	0.0437	27	c.220 others(44): Show c.220+7141_220+7142insCAGAGATACGATATATATCTGATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GADL1_chr3_30721197_30899661	30805734	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19240.hp2 HG02965.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0064 a0001c0001t0008g0101 a0001c0001t0004g0064 a0001c0001t0008g0101	2	282	0.0071	27	c.105 others(46): Show c.1051-4647_1051-4646insAAAAAAAAAAAAAAAAAAAAAAAAAA A	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	11/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30895247	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	282	0.0036	27	c.-63 others(36): Show c.-634_-633insCACACACACACACACACACACACACAC	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding		587		chr3	TogoVar
GAGE10_chrX_49298646_49324841	49318577	T T	TATTTATT others(20): Show TATTTATTTATTTATTTATTTATTTATC	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA20300.hp2 HG01993.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	302	0.0066	27	c.329 others(44): Show c.329-1148_329-1147insTATTTATTTATTTATTTATTTATCATT	GAGE10	ENSG00000215274.6	transcript	ENST00000407599.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0175 a0001c0002t0004g0175	1	348	0.0029	27	c.267 others(44): Show c.267-7163_267-7162insATATATATATATATATATATTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228688	T T	TATATATA others(20): Show TATATATATATATATATACATACATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0164 a0001c0001t0016g0164	1	348	0.0029	27	c.267 others(44): Show c.267-7163_267-7162insATATATATATATATATACATACATATA	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9			chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG03130.hp1 others(1): Show HG01256.hp1 HG01258.hp2 HG03130.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0019 a0001c0002t0003 a0001c0002t0019	a0001c0002t0003g0133 a0001c0002t0003g0156 a0001c0002t0003g0161 others(1): Show a0001c0002t0003g0133 a0001c0002t0003g0156 a0001c0002t0003g0161 a0001c0002t0019g0130	4	348	0.0115	27	c.967 others(44): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38703092	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0309 a0001c0001t0019g0309	1	328	0.0031	27	c.634 others(46): Show c.634+13199_634+13200insATATATATATATATATTTTTTTTTTT T	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703093	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0279 a0002c0002t0010g0279	1	328	0.0031	27	c.634 others(46): Show c.634+13199_634+13200insATATATATATATATATATATATATAT A	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6			chr2	TogoVar
GALNT13_chr2_153866922_154458979	153919986	T T	TTATATAT others(20): Show TTATATATATTATAATATGTAACAGTTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 NA18906.hp1 HG01243.hp2 HG02622.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0049 a0001c0001t0060 a0001c0001t0041 a0001c0001t0049 a0001c0001t0060	a0001c0001t0041g0094 a0001c0001t0049g0212 a0001c0001t0060g0069 a0001c0001t0041g0094 a0001c0001t0049g0212 a0001c0001t0060g0069	3	214	0.0140	27	c.-10 others(48): Show c.-105+18996_-105+18997insGTAACAGTTATATATATATTATAA TAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154014635	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01358.hp1 HG03017.hp1 others(3): Show HG01169.hp1 HG01358.hp1 HG03017.hp1 HG03669.hp1 HG03710.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0023	a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0003g0025 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0003g0025 a0001c0001t0008g0022 a0001c0001t0013g0151 a0001c0001t0023g0013	6	214	0.0280	27	c.142 others(46): Show c.142+70011_142+70012insTTTTTTTTTTTTTTTTTTTTTTTTTT T	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30977092	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03704.hp1 HG01346.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0002c0003t0001 a0001c0005t0001 a0002c0003t0001	a0001c0005t0001g0104 a0002c0003t0001g0156 a0001c0005t0001g0104 a0002c0003t0001g0156	2	226	0.0089	27	c.300 others(46): Show c.300-10791_300-10790insAAAAAAAAAAAAAAAAAAAAAAAAAA A	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT15_chr3_16169680_16235165	16233094	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp2 HG04204.hp1 others(1): Show HG02698.hp1 HG02698.hp2 HG04204.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0073 a0001c0001t0004g0258 a0001c0001t0004g0287 others(1): Show a0001c0001t0004g0073 a0001c0001t0004g0258 a0001c0001t0004g0287 a0001c0001t0012g0166	4	388	0.0103	27	c.55 others(38): Show c.5594_*5595insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2930		chr3	TogoVar
GALNT16_chr14_69255158_69359466	69260806	T T	TGCCCCGG others(20): Show TGCCCCGGAAGGCTGCCGGGCCCAGCGC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18984.hp2 NA19088.hp2 NA18963.hp1 NA18984.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0003t0003g0031 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0003t0003g0031	3	306	0.0098	27	c.177 others(42): Show c.177+342_177+368dupCCCGGAAGGCTGCCGGGCCCAGCGCGC	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT17_chr7_71127144_71718599	71265118	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	76	0.0132	27	c.239 others(46): Show c.239-70431_239-70430insATATATATATATATATATATATTTTT T	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT18_chr11_11265877_11627005	11271605	G G	GGGCTGGG others(20): Show GGGCTGGGTCTTGCTCCCCATAGCCATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(107): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18968.hp2 NA18979.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19003.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0018	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(25): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0006 a0001c0004t0007 a0001c0004t0009 a0001c0004t0013 a0001c0004t0018 a0001c0009t0017 a0001c0010t0001 a0001c0012t0006 a0001c0014t0003 a0001c0015t0001 a0001c0018t0001	a0001c0001t0002g0017 a0001c0002t0001g0109 a0001c0002t0001g0119 others(107): Show a0001c0001t0002g0017 a0001c0002t0001g0109 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0130 a0001c0002t0001g0137 a0001c0002t0001g0143 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0164 a0001c0002t0001g0185 a0001c0002t0001g0204 a0001c0002t0001g0214 a0001c0002t0001g0230 a0001c0002t0001g0234 a0001c0002t0001g0245 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0002g0015 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0038 a0001c0002t0002g0050 a0001c0002t0002g0061 a0001c0002t0002g0066 a0001c0002t0002g0080 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0003g0159 a0001c0002t0003g0170 a0001c0002t0003g0183 a0001c0002t0003g0189 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0215 a0001c0002t0003g0241 a0001c0002t0003g0251 a0001c0002t0004g0010 a0001c0002t0004g0048 a0001c0002t0004g0059 a0001c0002t0004g0065 a0001c0002t0004g0068 a0001c0002t0004g0091 a0001c0002t0005g0004 a0001c0002t0006g0110 a0001c0002t0006g0148 a0001c0002t0007g0045 a0001c0002t0007g0053 a0001c0002t0008g0153 a0001c0002t0008g0227 a0001c0002t0008g0257 a0001c0002t0012g0006 a0001c0002t0015g0098 a0001c0002t0016g0099 a0001c0003t0001g0181 a0001c0004t0001g0105 a0001c0004t0001g0124 a0001c0004t0001g0144 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0184 a0001c0004t0001g0191 a0001c0004t0001g0208 a0001c0004t0001g0221 a0001c0004t0001g0231 a0001c0004t0001g0233 a0001c0004t0002g0023 a0001c0004t0002g0026 a0001c0004t0002g0032 a0001c0004t0002g0035 a0001c0004t0002g0037 a0001c0004t0002g0085 a0001c0004t0003g0100 a0001c0004t0003g0113 a0001c0004t0003g0114 a0001c0004t0003g0118 a0001c0004t0003g0125 a0001c0004t0003g0132 a0001c0004t0003g0138 a0001c0004t0003g0151 a0001c0004t0003g0168 a0001c0004t0003g0177 a0001c0004t0003g0190 a0001c0004t0003g0198 a0001c0004t0003g0217 a0001c0004t0003g0218 a0001c0004t0003g0250 a0001c0004t0004g0012 a0001c0004t0004g0013 a0001c0004t0004g0031 a0001c0004t0004g0067 a0001c0004t0004g0070 a0001c0004t0006g0131 a0001c0004t0006g0228 a0001c0004t0007g0090 a0001c0004t0009g0002 a0001c0004t0009g0003 a0001c0004t0013g0081 a0001c0004t0018g0195 a0001c0009t0017g0256 a0001c0010t0001g0201 a0001c0012t0006g0222 a0001c0014t0003g0122 a0001c0015t0001g0229 a0001c0018t0001g0209	110	260	0.4231	27	c.167 others(44): Show c.1678-316_1678-315insGATGGCTATGGGGAGCAAGACCCAGCC	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	10/10			chr11	TogoVar
GALNT18_chr11_11265877_11627005	11340286	T T	TTAAACAC others(20): Show TTAAACACTGTCTAAAAACTGCCCAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(139): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG02055.hp1 HG02083.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18974.hp2 NA18978.hp1 NA18984.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19074.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0017 a0001c0020 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0006 a0001c0004t0007 a0001c0004t0009 a0001c0004t0018 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0009t0017 a0001c0010t0001 a0001c0011t0001 a0001c0014t0003 a0001c0015t0001 a0001c0017t0001 a0001c0020t0002 a0002c0008t0001	a0001c0001t0001g0101 a0001c0001t0001g0140 a0001c0001t0001g0160 others(139): Show a0001c0001t0001g0101 a0001c0001t0001g0140 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0069 a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0005g0007 a0001c0001t0011g0001 a0001c0002t0001g0121 a0001c0002t0001g0143 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0038 a0001c0002t0002g0066 a0001c0002t0002g0080 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0003g0203 a0001c0002t0003g0215 a0001c0002t0003g0241 a0001c0002t0003g0251 a0001c0002t0004g0091 a0001c0002t0007g0053 a0001c0002t0008g0153 a0001c0002t0008g0257 a0001c0002t0012g0006 a0001c0003t0001g0116 a0001c0003t0001g0120 a0001c0003t0001g0126 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0135 a0001c0003t0001g0142 a0001c0003t0001g0150 a0001c0003t0001g0156 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0181 a0001c0003t0001g0192 a0001c0003t0001g0194 a0001c0003t0001g0207 a0001c0003t0001g0211 a0001c0003t0001g0213 a0001c0003t0001g0219 a0001c0003t0001g0223 a0001c0003t0001g0237 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0259 a0001c0003t0002g0025 a0001c0003t0002g0036 a0001c0003t0002g0046 a0001c0003t0002g0058 a0001c0003t0002g0060 a0001c0003t0002g0071 a0001c0003t0002g0073 a0001c0003t0002g0076 a0001c0003t0005g0005 a0001c0003t0010g0096 a0001c0003t0010g0097 a0001c0004t0001g0105 a0001c0004t0001g0124 a0001c0004t0001g0144 a0001c0004t0001g0161 a0001c0004t0001g0184 a0001c0004t0001g0191 a0001c0004t0001g0208 a0001c0004t0001g0221 a0001c0004t0001g0231 a0001c0004t0001g0233 a0001c0004t0002g0023 a0001c0004t0002g0026 a0001c0004t0002g0037 a0001c0004t0003g0100 a0001c0004t0003g0113 a0001c0004t0003g0114 a0001c0004t0003g0118 a0001c0004t0003g0125 a0001c0004t0003g0132 a0001c0004t0003g0138 a0001c0004t0003g0151 a0001c0004t0003g0168 a0001c0004t0003g0198 a0001c0004t0003g0217 a0001c0004t0003g0218 a0001c0004t0003g0250 a0001c0004t0004g0013 a0001c0004t0004g0031 a0001c0004t0004g0067 a0001c0004t0004g0070 a0001c0004t0006g0131 a0001c0004t0006g0228 a0001c0004t0007g0090 a0001c0004t0009g0002 a0001c0004t0009g0003 a0001c0004t0018g0195 a0001c0005t0001g0115 a0001c0005t0001g0145 a0001c0005t0001g0147 a0001c0005t0001g0163 a0001c0005t0001g0166 a0001c0005t0001g0182 a0001c0005t0002g0083 a0001c0006t0001g0102 a0001c0006t0002g0021 a0001c0006t0002g0027 a0001c0006t0002g0029 a0001c0007t0001g0248 a0001c0007t0001g0249 a0001c0009t0017g0256 a0001c0010t0001g0201 a0001c0011t0001g0216 a0001c0014t0003g0122 a0001c0015t0001g0229 a0001c0017t0001g0239 a0001c0020t0002g0034 a0002c0008t0001g0220	142	260	0.5462	27	c.127 others(44): Show c.1278+532_1278+533insTTCTGGGCAGTTTTTAGACAGTGTTTA	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	7/10			chr11	TogoVar
GALNT2_chr1_230062238_230287122	230275930	C C	CATATATA others(20): Show CATATATACATGCCACATATATATACGT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0110 a0001c0002t0033g0110	1	324	0.0031	27	c.156 others(46): Show c.1560+1453_1560+1479dupTACATGCCACATATATATACGTATAT A	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT7_chr4_173163811_173328967	173216727	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp2 HG02486.hp1 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0183 a0001c0004t0001g0084 a0001c0002t0001g0183 a0001c0004t0001g0084	2	266	0.0075	27	c.127 others(46): Show c.127-31252_127-31251insATATATATATATATATATATTTTTTT T	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT9_chr12_132191372_132334589	132244630	C C	CGGGGGCG others(20): Show CGGGGGCGTGGTGATGGGGGCTGGACGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02615.hp1 others(2): Show HG02055.hp1 HG02109.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0017 others(1): Show a0001c0001 a0001c0016 a0001c0017 a0001c0019	a0001c0001t0001 a0001c0016t0001 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0003	a0001c0001t0001g0072 a0001c0016t0001g0054 a0001c0017t0001g0049 others(2): Show a0001c0001t0001g0072 a0001c0016t0001g0054 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077	5	183	0.0273	27	c.107 others(46): Show c.1077+3279_1077+3280insCCGTCCAGCCCCCATCACCACGCCCC C	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNTL5_chr7_151951446_152024929	151990580	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0110 a0012c0018t0002g0110	1	384	0.0026	27	c.658 others(44): Show c.658+3311_658+3312insAAAAAAAAAAAAAAAAAAAAAAAAAAA	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNTL6_chr4_171808404_173046559	173044551	A A	ATTTTTAA others(20): Show ATTTTTAAATGTAATATAAAAAATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02965.hp2 others(3): Show HG02258.hp1 HG02451.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0023 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0006g0020 a0001c0001t0008g0010 a0001c0001t0011g0031	6	40	0.1500	27	c.44 others(38): Show c.4451_*4452insTTTTTAAATGTAATATAAAAAATTAAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding		2993		chr4	TogoVar
GALNTL6_chr4_171808404_173046559	173044574	A A	ATAATTTT others(20): Show ATAATTTTTTAAATGTAATATAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	40	0.0250	27	c.44 others(38): Show c.4474_*4475insTAATTTTTTAAATGTAATATAAAAAAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding		3016		chr4	TogoVar
GALR1_chr18_77244848_77282900	77252896	T T	TCACCACC others(20): Show TCACCACCATCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0149 a0001c0002t0004g0149	1	366	0.0027	27	c.666 others(44): Show c.666+1690_666+1691insTCACCACCACCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252899	C C	CCACCACC others(20): Show CCACCACCACCATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0029 a0001c0001t0006g0029	1	366	0.0027	27	c.666 others(44): Show c.666+1696_666+1697insTCACCACCACCACCATCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252971	T T	TCACCACC others(20): Show TCACCACCACCATCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	366	0.0027	27	c.666 others(44): Show c.666+1765_666+1766insCCATCACCACCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259306	T T	TGGTCATG others(20): Show TGGTCATGGTGGTCATGGTGGTGATGAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18981.hp1 HG02155.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0291 a0001c0001t0003g0254 a0001c0001t0003g0291	2	366	0.0055	27	c.732 others(44): Show c.732+3086_732+3087insCATGGTGGTCATGGTGGTGATGACGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77281062	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0012 a0003c0005t0012	a0003c0005t0012g0040 a0003c0005t0012g0040	1	366	0.0027	27	c.12 others(40): Show c.12160_*12161insTATATATATATATATATATATATATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3163		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281090	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0132 a0001c0004t0132	a0001c0004t0132g0333 a0001c0004t0132g0333	1	366	0.0027	27	c.12 others(40): Show c.12188_*12189insATATATATATATATATATATATATATA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3191		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281091	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0201 a0001c0002t0004g0201	1	366	0.0027	27	c.12 others(40): Show c.12189_*12190insTATATATATATATATATATATATATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3192		chr18	TogoVar
GAPVD1_chr9_125256826_125372207	125293852	T T	TTATATAT others(20): Show TTATATATATAAATATATTTTATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0169 a0001c0003t0006g0172 a0001c0003t0006g0169 a0001c0003t0006g0172	2	340	0.0059	27	c.-14 others(46): Show c.-149-1596_-149-1595insAATATATTTTATATATATATATATAT A	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125293852	T T	TTATATAT others(20): Show TTATATATATATAAATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0037 a0001c0016t0037	a0001c0016t0037g0152 a0001c0016t0037g0152	1	340	0.0029	27	c.-14 others(46): Show c.-149-1594_-149-1593insAATATATTATATATATATATATATAT A	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAREM1_chr18_32258522_32475882	32363920	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0130 a0001c0004t0028g0130	1	192	0.0052	27	c.262 others(46): Show c.262+28974_262+28975insATGTGTGTGTGTGTGTGTGTGTGTGT G	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GARNL3_chr9_127259774_127398660	127331720	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01361.hp2 others(9): Show HG00280.hp1 HG00323.hp1 HG01361.hp2 HG02004.hp2 HG02257.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18942.hp2 NA19003.hp2 NA19009.hp1 NA19055.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0164 a0001c0001t0001g0181 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0164 a0001c0001t0001g0181 a0001c0001t0001g0220 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0285 a0003c0003t0001g0069	12	300	0.0400	27	c.595 others(42): Show c.595-539_595-538insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr9	TogoVar

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