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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
GALNT5_chr2_157252705_157323491	157256569	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 NA19058.hp2 NA19064.hp1 HG03490.hp2 NA19058.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0102 a0001c0001t0001g0160 a0001c0001t0001g0063 a0001c0001t0001g0102 a0001c0001t0001g0160	3	282	0.0106	11	c.-15 others(22): Show c.-1514_-1513insTATATATATAT	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding		1135		chr2	TogoVar
GALNT5_chr2_157252705_157323491	157273630	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG01884.hp1 HG02257.hp1	a0002 a0004 a0002 a0004	a0002c0005 a0004c0006 a0002c0005 a0004c0006	a0002c0005t0027 a0004c0006t0090 a0002c0005t0027 a0004c0006t0090	a0002c0005t0027g0207 a0004c0006t0090g0185 a0002c0005t0027g0207 a0004c0006t0090g0185	2	282	0.0071	11	c.145 others(32): Show c.1455-10633_1455-10623dupTTTTTTTTTTT	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT6_chr12_51346252_51396406	51347994	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03669.hp2 HG03492.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0271 a0001c0001t0011g0129 a0001c0001t0008g0271 a0001c0001t0011g0129	2	428	0.0047	11	c.63 others(22): Show c.6384_*6385insTTTTTTTTTTT	GALNT6	ENSG00000139629.16	transcript	ENST00000356317.8	protein_coding		3257		chr12	TogoVar
GALNT7_chr4_173163811_173328967	173216725	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	266	0.0038	11	c.127 others(30): Show c.127-31254_127-31253insTTTTTTTTTTT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT7_chr4_173163811_173328967	173216727	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01346.hp2 HG02273.hp1 others(5): Show HG01257.hp2 HG01346.hp2 HG02273.hp1 HG02723.hp2 HG04184.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0007c0010	a0001c0001t0001 a0001c0002t0001 a0001c0005t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0003 a0007c0010t0003	a0001c0001t0001g0052 a0001c0001t0001g0094 a0001c0001t0001g0096 others(5): Show a0001c0001t0001g0052 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0002t0001g0204 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0005t0003g0092 a0007c0010t0003g0097	8	266	0.0301	11	c.127 others(30): Show c.127-31252_127-31251insATATTTTTTTT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT7_chr4_173163811_173328967	173216727	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03927.hp2 HG01934.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0141 a0001c0001t0001g0012 a0001c0001t0001g0141	2	266	0.0075	11	c.127 others(30): Show c.127-31252_127-31251insATTTTTTTTTT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT7_chr4_173163811_173328967	173216727	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp2 HG01891.hp2 others(9): Show HG01071.hp1 HG01106.hp2 HG01891.hp2 HG02080.hp2 HG02300.hp2 HG03098.hp1 NA18946.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18992.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0001 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0124 others(9): Show a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0124 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0004g0115 a0001c0001t0015g0157	12	266	0.0451	11	c.127 others(30): Show c.127-31244_127-31234dupTTTTTTTTTTT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT7_chr4_173163811_173328967	173266868	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0255 a0001c0003t0012g0255	1	266	0.0038	11	c.587 others(30): Show c.587+18428_587+18429insTGTGTGTGTGT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	2/11			chr4	TogoVar
GALNT7_chr4_173163811_173328967	173288282	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG03225.hp2 HG01192.hp1 HG01891.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0043 a0001c0001t0001g0091 a0001c0002t0001g0173 a0001c0001t0001g0043 a0001c0001t0001g0091 a0001c0002t0001g0173	3	266	0.0113	11	c.588 others(28): Show c.588-3813_588-3803dupAAAAAAAAAAA	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL5_chr7_151951446_152024929	151962428	T T	TTTTTTTC others(4): Show TTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp2 HG01106.hp2 others(17): Show HG00597.hp1 HG00735.hp2 HG01106.hp2 HG01516.hp2 HG01934.hp1 HG02083.hp2 HG02280.hp1 HG02451.hp2 HG02615.hp2 HG02698.hp1 HG02886.hp1 HG02896.hp2 HG03041.hp1 HG03486.hp2 HG03491.hp1 HG03942.hp1 HG04115.hp2 NA18747.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0008 a0015	a0001c0001 a0002c0002 a0005c0005 others(3): Show a0001c0001 a0002c0002 a0005c0005 a0006c0006 a0008c0009 a0015c0012	a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 a0006c0006t0001 a0008c0009t0001 a0015c0012t0001	a0001c0001t0001g0303 a0001c0001t0001g0348 a0001c0001t0001g0351 others(17): Show a0001c0001t0001g0303 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0002c0002t0001g0355 a0005c0005t0001g0345 a0005c0005t0001g0346 a0005c0005t0001g0362 a0005c0005t0001g0363 a0005c0005t0001g0364 a0006c0006t0001g0349 a0006c0006t0001g0350 a0008c0009t0001g0347 a0015c0012t0001g0352	20	384	0.0521	11	c.-39 others(28): Show c.-39-4774_-39-4773insCTTTCTTTTTT	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNTL5_chr7_151951446_152024929	151990580	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0049 a0005c0005t0001g0049	1	384	0.0026	11	c.658 others(28): Show c.658+3301_658+3311dupAAAAAAAAAAA	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNTL5_chr7_151951446_152024929	151995348	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0010 a0005c0005t0001g0010	1	384	0.0026	11	c.659 others(28): Show c.659-7334_659-7324dupTTTTTTTTTTT	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNTL6_chr4_171808404_173046559	171967450	T T	TTTTTTTG others(4): Show TTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02145.hp2 HG02717.hp2 others(3): Show HG02015.hp2 HG02145.hp2 HG02717.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0003 a0001c0004t0002	a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0040 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0009g0024 a0001c0002t0003g0001 a0001c0004t0002g0038	6	40	0.1500	11	c.138 others(32): Show c.138+152738_138+152739insGTTTGTTTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	171967450	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG03195.hp1 others(2): Show HG02145.hp1 HG02723.hp2 HG03195.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0012 a0001c0003t0001 a0001c0001t0002 a0001c0001t0012 a0001c0003t0001	a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0039 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0012g0027 a0001c0003t0001g0005	5	40	0.1250	11	c.138 others(32): Show c.138+152742_138+152743insGTTTTTTTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	171967454	T T	TTTGTTTG others(4): Show TTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	40	0.0250	11	c.138 others(32): Show c.138+152738_138+152739insGTTTGTTTGTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172138513	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	40	0.0250	11	c.139 others(30): Show c.139-91142_139-91141insATATATATATT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172138514	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0024 a0001c0001t0009g0024	1	40	0.0250	11	c.139 others(30): Show c.139-91142_139-91141insATATATATATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12			chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172176337	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02015.hp2 HG02145.hp1 others(4): Show HG01884.hp1 HG02015.hp2 HG02145.hp1 HG02735.hp1 HG02735.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0003t0005	a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0002g0035 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0004g0013 a0001c0003t0001g0005 a0001c0003t0005g0004	7	40	0.1750	11	c.139 others(30): Show c.139-53310_139-53300dupAAAAAAAAAAA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172504159	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	40	0.0250	11	c.553 others(32): Show c.553+155480_553+155490dupAAAAAAAAAAA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172552837	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	40	0.0250	11	c.553 others(32): Show c.553+204158_553+204168dupAAAAAAAAAAA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172658149	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG02145.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0015 a0001c0003t0001g0005 a0001c0001t0001g0015 a0001c0003t0001g0005	2	40	0.0500	11	c.554 others(32): Show c.554-151202_554-151192dupAAAAAAAAAAA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALP_chr19_56171008_56190775	56188439	C C	CAACATGG others(4): Show CAACATGGTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0070 a0002c0003t0010g0070	1	444	0.0023	11	c.31 others(22): Show c.3169_*3170insAACATGGTGAA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding		2665		chr19	TogoVar
GALP_chr19_56171008_56190775	56188926	A A	ATTTACTT others(4): Show ATTTACTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	444	0.0023	11	c.36 others(22): Show c.3656_*3657insTTTACTTATTT	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding		3152		chr19	TogoVar
GALR1_chr18_77244848_77282900	77258986	G G	GGTGATGG others(4): Show GGTGATGGTGGT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18979.hp1 NA19065.hp1 NA18950.hp1 NA18979.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0044 a0001c0001t0027 a0001c0001t0044	a0001c0001t0027g0060 a0001c0001t0044g0028 a0001c0001t0044g0049 a0001c0001t0027g0060 a0001c0001t0044g0028 a0001c0001t0044g0049	3	366	0.0082	11	c.732 others(28): Show c.732+2764_732+2765insTGATGGTGGTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77258986	G G	GGTGGTGG others(4): Show GGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01361.hp2 others(5): Show HG00639.hp2 HG01106.hp1 HG01361.hp2 NA18943.hp1 NA18946.hp2 NA18973.hp2 NA18977.hp1 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0003c0007 a0001c0002 a0003c0005 a0003c0007	a0001c0002t0002 a0001c0002t0054 a0001c0002t0063 others(4): Show a0001c0002t0002 a0001c0002t0054 a0001c0002t0063 a0003c0005t0012 a0003c0005t0110 a0003c0007t0053 a0003c0007t0135	a0001c0002t0002g0204 a0001c0002t0054g0130 a0001c0002t0063g0026 others(5): Show a0001c0002t0002g0204 a0001c0002t0054g0130 a0001c0002t0063g0026 a0003c0005t0012g0045 a0003c0005t0012g0061 a0003c0005t0110g0034 a0003c0007t0053g0132 a0003c0007t0135g0184	8	366	0.0219	11	c.732 others(28): Show c.732+2764_732+2765insTGGTGGTGGTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259101	G G	GGTGATGG others(4): Show GGTGATGGTGGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0012 a0003c0005t0012	a0003c0005t0012g0061 a0003c0005t0012g0061	1	366	0.0027	11	c.732 others(28): Show c.732+2879_732+2880insTGATGGTGGTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR2_chr17_76069781_76082537	76070880	A A	ACACACAC others(4): Show ACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	405	0.0025	11	c.-40 others(22): Show c.-4004_-4003insCACACACACAC	GALR2	ENSG00000182687.4	transcript	ENST00000329003.4	protein_coding		3900		chr17	TogoVar
GALR2_chr17_76069781_76082537	76077966	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01261.hp1 NA20752.hp2 HG01243.hp2 HG01261.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	405	0.0074	11	c.53 others(20): Show c.535_*536insGGGGGGGGGGG	GALR2	ENSG00000182687.4	transcript	ENST00000329003.4	protein_coding		430		chr17	TogoVar
GALT_chr9_34641675_34656035	34650282	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG02258.hp2 others(8): Show HG00741.hp2 HG01175.hp2 HG02258.hp2 HG02738.hp2 HG03239.hp2 HG03486.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18522.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0004 a0001c0001 a0001c0009 a0002c0004	a0001c0001t0001 a0001c0009t0001 a0002c0004t0001 a0001c0001t0001 a0001c0009t0001 a0002c0004t0001	a0001c0001t0001g0014 a0001c0009t0001g0016 a0002c0004t0001g0006 a0001c0001t0001g0014 a0001c0009t0001g0016 a0002c0004t0001g0006	11	416	0.0264	11	c.106 others(26): Show c.1060-81_1060-71dupAAAAAAAAAAA	GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
GANAB_chr11_62619829_62651613	62640228	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(85): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04204.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19010.hp2 NA19030.hp1 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19084.hp1 NA19087.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0012	a0001c0001 a0001c0016 a0002c0002 others(3): Show a0001c0001 a0001c0016 a0002c0002 a0005c0009 a0006c0006 a0012c0015	a0001c0001t0001 a0001c0001t0008 a0001c0016t0001 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0016t0001 a0002c0002t0001 a0002c0002t0005 a0005c0009t0001 a0006c0006t0001 a0012c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(52): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0202 a0001c0001t0008g0065 a0001c0016t0001g0110 a0002c0002t0001g0023 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0139 a0002c0002t0005g0171 a0005c0009t0001g0141 a0006c0006t0001g0022 a0012c0015t0001g0175	88	308	0.2857	11	c.39- others(24): Show c.39-508_39-498dupTTTTTTTTTTT	GANAB	ENSG00000089597.18	transcript	ENST00000356638.8	protein_coding	1/23			chr11	TogoVar
GAN_chr16_81309962_81395809	81319206	T T	TTATATAT others(4): Show TTATATATTATA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	384	0.0026	11	c.167 others(28): Show c.167+3933_167+3934insTATATATATAT	GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GAP43_chr3_115618510_115726483	115618681	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	352	0.0028	11	c.-50 others(22): Show c.-5009_-5008insAAAAAAAAAAA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding		4828		chr3	TogoVar
GAP43_chr3_115618510_115726483	115661831	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00642.hp2 others(46): Show HG00438.hp2 HG00609.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01169.hp1 HG01261.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02602.hp2 HG02683.hp1 HG02738.hp1 HG02896.hp1 HG03041.hp2 HG03239.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04184.hp1 NA18943.hp2 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18968.hp2 NA18974.hp2 NA18980.hp2 NA18983.hp1 NA18998.hp1 NA19003.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19058.hp1 NA19062.hp1 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19082.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0064 others(46): Show a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0172 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0268 a0001c0001t0001g0306 a0001c0001t0001g0332 a0001c0001t0002g0108 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0337 a0001c0001t0003g0027 a0001c0001t0003g0062 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0214 a0001c0001t0003g0284 a0001c0001t0003g0316 a0001c0001t0004g0025 a0001c0001t0004g0059 a0001c0001t0004g0159 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0200 a0001c0001t0004g0256 a0001c0001t0008g0235 a0001c0001t0008g0236 a0001c0001t0009g0077 a0001c0001t0011g0075 a0001c0001t0016g0269	49	352	0.1392	11	c.31- others(28): Show c.31-14178_31-14168dupTTTTTTTTTTT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698050	T T	TAATATAT others(4): Show TAATATATAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	352	0.0028	11	c.628 others(30): Show c.628+21440_628+21441insAATATATAAAA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GAP43_chr3_115618510_115726483	115698050	T T	TAATATAT others(4): Show TAATATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG01081.hp2 others(28): Show HG00438.hp2 HG00609.hp2 HG01081.hp2 HG01106.hp1 HG01496.hp1 HG02004.hp2 HG02055.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 NA18968.hp2 NA18986.hp2 NA19010.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0002	a0001c0001t0001g0037 a0001c0001t0001g0090 a0001c0001t0001g0091 others(28): Show a0001c0001t0001g0037 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0186 a0001c0001t0001g0342 a0001c0001t0002g0164 a0001c0001t0002g0308 a0001c0001t0004g0025 a0001c0001t0004g0059 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0180 a0001c0001t0004g0287 a0001c0001t0004g0333 a0001c0001t0005g0003 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0278 a0001c0001t0005g0299 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0005g0348 a0001c0001t0010g0245 a0001c0001t0010g0246 a0001c0002t0002g0039 a0001c0002t0002g0192 a0001c0002t0002g0223	31	352	0.0881	11	c.628 others(30): Show c.628+21440_628+21441insAATATATATAA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GAP43_chr3_115618510_115726483	115698210	T T	TAATATAT others(4): Show TAATATATATAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG02148.hp2 others(2): Show HG00733.hp1 HG00735.hp1 HG02148.hp2 HG02683.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0170 a0001c0001t0001g0228 others(2): Show a0001c0001t0001g0073 a0001c0001t0001g0170 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230	5	352	0.0142	11	c.628 others(30): Show c.628+21602_628+21603insTATATATAAAA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAPVD1_chr9_125256826_125372207	125293862	A A	ATAAATAT others(4): Show ATAAATATATTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03704.hp1 HG03834.hp1 others(4): Show HG03688.hp1 HG03704.hp1 HG03834.hp1 NA18959.hp1 NA18979.hp1 NA19054.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0003c0007t0001 a0001c0001t0001 a0001c0001t0002 a0003c0007t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0288 others(4): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0288 a0001c0001t0001g0300 a0001c0001t0001g0313 a0001c0001t0002g0309 a0003c0007t0001g0302	7	340	0.0206	11	c.-14 others(30): Show c.-149-1594_-149-1593insAATATATTTTA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125300023	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01069.hp1 HG01243.hp1 others(5): Show HG00621.hp2 HG01069.hp1 HG01243.hp1 HG02027.hp2 HG02818.hp1 HG03041.hp2 NA19054.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0001c0001t0001 a0001c0001t0004 a0001c0001t0024	a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0187 others(5): Show a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0324 a0001c0001t0004g0011 a0001c0001t0024g0194	8	340	0.0235	11	c.185 others(26): Show c.185+923_185+933dupAAAAAAAAAAA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAREM1_chr18_32258522_32475882	32364026	A A	ATATATAT others(4): Show ATATATATATGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03579.hp2 HG01884.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0033 a0002c0006t0011 a0001c0004t0033 a0002c0006t0011	a0001c0004t0033g0109 a0002c0006t0011g0182 a0001c0004t0033g0109 a0002c0006t0011g0182	2	192	0.0104	11	c.262 others(30): Show c.262+28868_262+28869insACATATATATA	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GAREM1_chr18_32258522_32475882	32364027	T T	TATATATA others(4): Show TATATATATATG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02293.hp1 NA19240.hp1 HG01433.hp2 HG02293.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0027 a0001c0001 a0002c0005 a0003c0027	a0001c0001t0001 a0002c0005t0023 a0003c0027t0002 a0001c0001t0001 a0002c0005t0023 a0003c0027t0002	a0001c0001t0001g0183 a0002c0005t0023g0007 a0003c0027t0002g0032 a0001c0001t0001g0183 a0002c0005t0023g0007 a0003c0027t0002g0032	3	192	0.0156	11	c.262 others(30): Show c.262+28867_262+28868insCATATATATAT	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GARIN1B_chr7_128710391_128736743	128711256	G G	GAATCCAG others(4): Show GAATCCAGTAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	452	0.0022	11	c.-41 others(22): Show c.-4186_-4185insAATCCAGTAAC	GARIN1B	ENSG00000135248.16	transcript	ENST00000621392.5	protein_coding		4134		chr7	TogoVar
GARIN2_chr14_67184440_67228940	67196223	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0046 a0006c0011t0001g0046	1	332	0.0030	11	c.-11 others(30): Show c.-113-1046_-113-1036dupTTTTTTTTTTT	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARNL3_chr9_127259774_127398660	127269786	G G	GTTTTTTG others(4): Show GTTTTTTGTGGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0127 a0004c0007t0001g0127	1	300	0.0033	11	c.144 others(28): Show c.144+4771_144+4772insGTGGTTTTTTT	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127269786	G G	GTTTTTTG others(4): Show GTTTTTTGTGTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp2 HG02717.hp1 others(2): Show HG00735.hp2 HG02145.hp2 HG02717.hp1 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0128	5	300	0.0167	11	c.144 others(28): Show c.144+4771_144+4772insGTGTTTTTTTT	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127388655	A A	AGTCTTTT others(4): Show AGTCTTTTTTCC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	300	0.0033	11	c.252 others(28): Show c.2528-248_2528-238dupGTCTTTTTTCC	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARRE1_chr19_34249554_34360566	34262287	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01168.hp1 HG01169.hp1 others(18): Show HG00597.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG02083.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02602.hp1 HG02922.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp1 NA18906.hp2 NA18982.hp1 NA18999.hp1 NA19056.hp1 NA19058.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0005 a0001c0002 a0001c0006 a0002c0005	a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 others(2): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0006t0002 a0002c0005t0003	a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 others(18): Show a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0169 a0001c0002t0013g0019 a0001c0002t0013g0020 a0001c0006t0002g0015 a0002c0005t0003g0155 a0002c0005t0003g0156 a0002c0005t0003g0157	21	326	0.0644	11	c.-79 others(30): Show c.-796+7691_-796+7701dupTTTTTTTTTTT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GARRE1_chr19_34249554_34360566	34290874	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	326	0.0031	11	c.-79 others(30): Show c.-795-8765_-795-8755dupTTTTTTTTTTT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GARRE1_chr19_34249554_34360566	34293746	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03540.hp2 HG04115.hp1 others(1): Show HG01081.hp2 HG03540.hp2 HG04115.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0201 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0211	4	326	0.0123	11	c.-79 others(30): Show c.-795-5933_-795-5932insCACACACACAC	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13			chr19	TogoVar
GARS1_chr7_30589878_30639033	30590864	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(194): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0002 a0001c0003 a0001c0004 others(11): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0013 a0001c0015 a0002c0001 a0004c0010 a0005c0014 a0006c0009 a0007c0016 a0008c0012 a0009c0017	a0001c0002t0002 a0001c0003t0002 a0001c0003t0003 others(12): Show a0001c0002t0002 a0001c0003t0002 a0001c0003t0003 a0001c0004t0002 a0001c0005t0002 a0001c0007t0001 a0001c0013t0002 a0001c0015t0001 a0002c0001t0001 a0004c0010t0003 a0005c0014t0002 a0006c0009t0003 a0007c0016t0002 a0008c0012t0002 a0009c0017t0002	a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0011 others(130): Show a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0043 a0001c0002t0002g0088 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0003t0002g0240 a0001c0003t0003g0006 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0023 a0001c0003t0003g0038 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0201 a0001c0003t0003g0202 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0003g0206 a0001c0003t0003g0207 a0001c0003t0003g0208 a0001c0003t0003g0209 a0001c0003t0003g0210 a0001c0003t0003g0211 a0001c0003t0003g0212 a0001c0003t0003g0214 a0001c0003t0003g0215 a0001c0003t0003g0220 a0001c0003t0003g0221 a0001c0003t0003g0224 a0001c0003t0003g0225 a0001c0003t0003g0226 a0001c0003t0003g0227 a0001c0003t0003g0228 a0001c0003t0003g0229 a0001c0003t0003g0232 a0001c0003t0003g0233 a0001c0003t0003g0234 a0001c0003t0003g0239 a0001c0003t0003g0242 a0001c0003t0003g0243 a0001c0003t0003g0244 a0001c0003t0003g0245 a0001c0004t0002g0005 a0001c0004t0002g0051 a0001c0004t0002g0052 a0001c0004t0002g0053 a0001c0004t0002g0199 a0001c0004t0002g0200 a0001c0005t0002g0016 a0001c0005t0002g0045 a0001c0005t0002g0046 a0001c0005t0002g0047 a0001c0005t0002g0054 a0001c0007t0001g0024 a0001c0007t0001g0056 a0001c0007t0001g0057 a0001c0007t0001g0058 a0001c0013t0002g0048 a0001c0015t0001g0011 a0002c0001t0001g0086 a0002c0001t0001g0092 a0004c0010t0003g0216 a0005c0014t0002g0001 a0006c0009t0003g0213 a0007c0016t0002g0184 a0008c0012t0002g0009 a0009c0017t0002g0194	197	402	0.4901	11	c.-40 others(22): Show c.-4058_-4057insAAAAAAAAAAA	GARS1	ENSG00000106105.15	transcript	ENST00000389266.8	protein_coding		4013		chr7	TogoVar
GAS2L3_chr12_100568684_100633288	100622749	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18956.hp2 HG04204.hp1 NA18956.hp2	a0003 a0005 a0003 a0005	a0003c0006 a0005c0009 a0003c0006 a0005c0009	a0003c0006t0015 a0005c0009t0015 a0003c0006t0015 a0005c0009t0015	a0003c0006t0015g0051 a0005c0009t0015g0050 a0003c0006t0015g0051 a0005c0009t0015g0050	2	402	0.0050	11	c.756 others(26): Show c.756+390_756+400dupAAAAAAAAAAA	GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar

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