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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ASAP1_chr8_130047104_130448674	130050033	T T	TGGGGGGC others(36): Show TGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	308	0.0033	43	c.46 others(54): Show c.4697_*4698insCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCT CTGCCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2070		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050105	A A	AGGGGGAA others(36): Show AGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	308	0.0033	43	c.46 others(54): Show c.4625_*4626insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1998		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050146	A A	AGGGGGAA others(36): Show AGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02027.hp2 NA18940.hp2 others(3): Show HG01975.hp2 HG02027.hp2 NA18940.hp2 NA18964.hp2 NA18990.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0169 a0001c0001t0002g0170 others(3): Show a0001c0001t0002g0054 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0206 a0001c0001t0002g0207	6	308	0.0195	43	c.45 others(54): Show c.4584_*4585insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1957		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072823	G G	GTGTGTGT others(36): Show GTGTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCGCGCGCAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0269 a0002c0002t0001g0269	1	308	0.0033	43	c.270 others(62): Show c.2701+3524_2701+3525insGTGCGCGCGCGCGCGCGCACGCACAC GCGCACACACACACACA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(36): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCAGC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	308	0.0033	43	c.270 others(62): Show c.2701+3523_2701+3524insGCTGCGCGCGCGCGCACACACACACA CACACACACACACACAC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGTGT others(36): Show GTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCAGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	308	0.0033	43	c.270 others(62): Show c.2701+3522_2701+3523insTGCGCGCGCTGCGCGCGCGCACGCAC ACGCGCACACACACACA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASCC1_chr10_72091032_72221276	72218165	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0188	1	216	0.0046	43	c.-19 others(54): Show c.-1993_-1992insATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1890		chr10	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(36): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	314	0.0032	43	c.530 others(62): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608507	T T	TTATATAT others(36): Show TTATATATATATTTTATATATATATACTTTATATATATATTTTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02896.hp2 HG02897.hp1 others(3): Show HG00558.hp1 HG02896.hp2 HG02897.hp1 NA18998.hp1 NA19011.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0019 a0001c0002 a0001c0019	a0001c0002t0002 a0001c0002t0003 a0001c0019t0012 a0001c0002t0002 a0001c0002t0003 a0001c0019t0012	a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0003g0101 others(3): Show a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0003g0101 a0001c0002t0003g0105 a0001c0002t0003g0144 a0001c0019t0012g0120	6	314	0.0191	43	c.478 others(62): Show c.4786-1420_4786-1419insTAAAATATATATATAAAGTATATATA TATAAAATATATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100847701	C C	CAAGAAAA others(36): Show CAAGAAAACTGAGCTTCTGAGAGATTAAGTTACCTAAAGTGTCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0153 a0001c0002t0003g0153	1	314	0.0032	43	c.801 others(58): Show c.801+404_801+446dupTGACACTTTAGGTAACTTAATCTCTCAGAA GCTCAGTTTTCTT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	4/41						chr6	TogoVar
ASIP_chr20_34236423_34274344	34258700	A A	ATATAGTA others(36): Show ATATAGTATTATATATATAGTGTATATACACTATATATATATAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	306	0.0033	43	c.-10 others(60): Show c.-10-1661_-10-1660insGTATTATATATATAGTGTATATACACTA TATATATATACTATA		ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1457746	T T	TATCTATC others(36): Show TATCTATCTATCCATCTATGTATGTATGTATGTATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG03195.hp1 HG02896.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0014 a0001c0011 a0002c0014	a0001c0011t0001 a0002c0014t0001 a0001c0011t0001 a0002c0014t0001	a0001c0011t0001g0014 a0002c0014t0001g0177 a0001c0011t0001g0014 a0002c0014t0001g0177	2	185	0.0108	43	c.-49 others(54): Show c.-4907_-4906insGATAGATACATACATACATACATACATAGATGGA TAGATAGAT		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding					4838		chrX	TogoVar
ASMT_chrX_1610059_1648081	1647128	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01175.hp1 HG01934.hp1 others(1): Show HG00423.hp2 HG01175.hp1 HG01934.hp1 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0023 a0001c0003t0001g0033 a0001c0003t0002g0173 others(1): Show a0001c0003t0001g0023 a0001c0003t0001g0033 a0001c0003t0002g0173 a0001c0003t0002g0177	4	223	0.0179	43	c.41 others(54): Show c.4114_*4115insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding					4048		chrX	TogoVar
ASPG_chr14_104080700_104120582	104085481	G G	GCACCCCG others(36): Show GCACCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02723.hp1 HG02451.hp2 HG02647.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0011 a0001c0001t0025 a0001c0019t0010 a0001c0001t0011 a0001c0001t0025 a0001c0019t0010	a0001c0001t0011g0244 a0001c0001t0025g0243 a0001c0019t0010g0245 a0001c0001t0011g0244 a0001c0001t0025g0243 a0001c0019t0010g0245	3	368	0.0082	43	c.-29 others(52): Show c.-290_-289insCACCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCC CCGCCCC		ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding					218		chr14	TogoVar
ATCAY_chr19_3875685_3933082	3908632	C C	CCTCCTCC others(36): Show CCTCCTCCCCTTCTTCCTCCCCCTTCCCCTTTCTTCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	384	0.0026	43	c.647 others(58): Show c.647+285_647+327dupTTCCCCTTTCTTCTCCTCCTTCTCCTCCCC TTCTTCCTCCCCC		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(36): Show CTTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0049 a0003c0003t0001g0049	1	226	0.0044	43	c.108 others(60): Show c.108+5681_108+5682insTTTCCTTCTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7						chr5	TogoVar
ATG10_chr5_81967023_82261133	81993360	C C	CTTCTTTC others(36): Show CTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0118 a0001c0001t0019g0118	1	226	0.0044	43	c.108 others(60): Show c.108+5688_108+5689insCTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG4B_chr2_241632693_241678857	241643692	T T	TCCCCCCC others(36): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0027 a0003c0004t0027	a0003c0004t0027g0246 a0003c0004t0027g0246	1	410	0.0024	43	c.10+ others(58): Show c.10+5968_10+5969insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCC		ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12						chr2	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	236	0.0042	43	c.364 others(62): Show c.364-10405_364-10404insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATOH1_chr4_93823753_93835964	93831406	C C	CTCTCTCT others(36): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	458	0.0022	43	c.14 others(54): Show c.1415_*1416insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCT		ATOH1	ENSG00000172238.6	transcript	ENST00000306011.6	protein_coding					443		chr4	TogoVar
ATP11A_chr13_112685038_112892168	112803688	C C	CCCTCCCT others(36): Show CCCTCCCTCCCCTCCTTCTCTCATTCCCCTCCTTCCCTCCCTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0075 a0001c0009t0075	a0001c0009t0075g0153 a0001c0009t0075g0153	1	254	0.0039	43	c.163 others(60): Show c.163-1263_163-1221dupCTCCCCTCCTTCTCTCATTCCCCTCCTT CCCTCCCTGACCTCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP1B4_chrX_120357089_120388237	120374588	A A	AATATAAT others(36): Show AATATAATATTATATATATATAATATAATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	353	0.0028	43	c.563 others(58): Show c.563-784_563-783insATATAATATTATATATATATAATATAATAT ATAATATATATAT		ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/7						chrX	TogoVar
ATP1B4_chrX_120357089_120388237	120374588	A A	AATATTAT others(36): Show AATATTATATTATATATATATAATATAATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG02818.hp2 others(6): Show HG02258.hp1 HG02622.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 others(3): Show a0001c0001t0001g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0173 a0001c0001t0007g0071 a0001c0001t0008g0171	9	353	0.0255	43	c.563 others(58): Show c.563-784_563-783insATATTATATTATATATATATAATATAATAT ATAATATATATAT		ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/7						chrX	TogoVar
ATP5MGL_chr22_42634803_42645601	42643443	G G	GCCCCCCC others(36): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0000 a0001c0001t0019g0000	1	374	0.0027	43	c.-31 others(54): Show c.-3170_-3169insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGG		ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding					2843		chr22	TogoVar
ATP6V0A4_chr7_138701294_138803196	138735863	G G	GAGTCTAA others(36): Show GAGTCTAAGACGGCAAGATCCCTTGAGGTCAGGAGTTTAAGACC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	376	0.0027	43	c.157 others(62): Show c.1573-1610_1573-1609insGGTCTTAAACTCCTGACCTCAAGGGA TCTTGCCGTCTTAGACT		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21						chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138735866	G G	GCTAAGAC others(36): Show GCTAAGACGGCAAGATCCCTTGAGGTCAGGAGTTTAAGACCAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(257): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0014 a0015	a0001c0001 a0001c0005 a0001c0007 others(35): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0014 a0001c0021 a0001c0029 a0001c0035 a0002c0002 a0002c0003 a0002c0012 a0002c0016 a0002c0019 a0002c0025 a0002c0027 a0002c0046 a0002c0049 a0003c0004 a0003c0022 a0003c0031 a0003c0033 a0003c0036 a0004c0011 a0004c0015 a0004c0018 a0004c0041 a0005c0006 a0006c0009 a0007c0017 a0007c0026 a0008c0024 a0009c0042 a0009c0048 a0011c0028 a0014c0047 a0015c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0007t0001 a0001c0008t0002 a0001c0010t0002 a0001c0010t0004 a0001c0013t0001 a0001c0014t0001 a0001c0014t0004 a0001c0021t0001 a0001c0029t0001 a0001c0035t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0012t0001 a0002c0012t0004 a0002c0016t0001 a0002c0019t0001 a0002c0019t0003 a0002c0025t0001 a0002c0027t0001 a0002c0046t0001 a0002c0049t0006 a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0003c0004t0008 a0003c0022t0001 a0003c0022t0003 a0003c0031t0006 a0003c0033t0004 a0003c0036t0001 a0004c0011t0001 a0004c0015t0001 a0004c0018t0001 a0004c0041t0004 a0005c0006t0001 a0006c0009t0001 a0007c0017t0001 a0007c0017t0002 a0007c0026t0001 a0008c0024t0002 a0009c0042t0001 a0009c0048t0005 a0011c0028t0001 a0014c0047t0001 a0015c0045t0001	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0027 others(257): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0317 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0342 a0001c0001t0001g0349 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0002g0030 a0001c0001t0002g0154 a0001c0001t0002g0187 a0001c0001t0002g0200 a0001c0001t0002g0241 a0001c0001t0002g0297 a0001c0001t0002g0331 a0001c0001t0003g0102 a0001c0001t0003g0179 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0007g0374 a0001c0001t0010g0242 a0001c0001t0013g0372 a0001c0001t0014g0376 a0001c0005t0001g0032 a0001c0005t0001g0093 a0001c0005t0001g0123 a0001c0005t0002g0043 a0001c0005t0002g0359 a0001c0005t0003g0274 a0001c0005t0004g0177 a0001c0005t0005g0067 a0001c0007t0001g0055 a0001c0007t0001g0310 a0001c0007t0001g0333 a0001c0008t0002g0100 a0001c0010t0002g0197 a0001c0010t0002g0198 a0001c0010t0002g0362 a0001c0010t0004g0171 a0001c0013t0001g0103 a0001c0013t0001g0181 a0001c0013t0001g0206 a0001c0013t0001g0366 a0001c0014t0001g0094 a0001c0014t0001g0125 a0001c0014t0001g0267 a0001c0014t0004g0095 a0001c0021t0001g0195 a0001c0021t0001g0196 a0001c0029t0001g0110 a0001c0035t0001g0025 a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0050 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0079 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0203 a0002c0002t0001g0208 a0002c0002t0001g0227 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0256 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0275 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0291 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0307 a0002c0002t0001g0340 a0002c0002t0001g0360 a0002c0002t0001g0369 a0002c0002t0002g0082 a0002c0002t0002g0191 a0002c0003t0001g0066 a0002c0003t0001g0190 a0002c0003t0001g0316 a0002c0003t0002g0065 a0002c0012t0001g0042 a0002c0012t0001g0081 a0002c0012t0001g0084 a0002c0012t0001g0089 a0002c0012t0004g0346 a0002c0016t0001g0284 a0002c0019t0001g0236 a0002c0019t0003g0279 a0002c0025t0001g0205 a0002c0025t0001g0286 a0002c0027t0001g0005 a0002c0027t0001g0049 a0002c0046t0001g0367 a0002c0049t0006g0044 a0003c0004t0001g0105 a0003c0004t0002g0354 a0003c0004t0005g0038 a0003c0004t0008g0068 a0003c0022t0001g0289 a0003c0022t0003g0216 a0003c0031t0006g0344 a0003c0033t0004g0364 a0003c0036t0001g0046 a0004c0011t0001g0063 a0004c0011t0001g0163 a0004c0011t0001g0266 a0004c0011t0001g0273 a0004c0015t0001g0358 a0004c0018t0001g0026 a0004c0018t0001g0280 a0004c0041t0004g0006 a0005c0006t0001g0015 a0005c0006t0001g0031 a0005c0006t0001g0053 a0005c0006t0001g0054 a0005c0006t0001g0268 a0005c0006t0001g0269 a0005c0006t0001g0276 a0005c0006t0001g0301 a0005c0006t0001g0302 a0005c0006t0001g0303 a0005c0006t0001g0332 a0006c0009t0001g0202 a0006c0009t0001g0222 a0006c0009t0001g0223 a0006c0009t0001g0224 a0006c0009t0001g0258 a0006c0009t0001g0281 a0007c0017t0001g0311 a0007c0017t0001g0353 a0007c0017t0002g0323 a0007c0026t0001g0003 a0007c0026t0001g0013 a0008c0024t0002g0324 a0008c0024t0002g0325 a0009c0042t0001g0111 a0009c0048t0005g0347 a0011c0028t0001g0059 a0014c0047t0001g0257 a0015c0045t0001g0021	260	376	0.6915	43	c.157 others(62): Show c.1573-1613_1573-1612insGCTGGTCTTAAACTCCTGACCTCAAG GGATCTTGCCGTCTTAG		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21						chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19010.hp2 NA18943.hp1 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0131 a0002c0002t0001g0132	2	376	0.0053	43	c.157 others(62): Show c.1572+2426_1572+2427insTATATATATATATATATATATATATA TATATATATATATATAT		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21						chr7	TogoVar
ATP8B4_chr15_49853238_50124233	50085971	G G	GATATATA others(36): Show GATATATATCATATATATTTATATGATATATATCATATATATTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	254	0.0039	43	c.29- others(60): Show c.29-11787_29-11786insAAATATATATGATATATATCATATAAAT ATATATGATATATAT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19090.hp1 HG01069.hp2 NA19090.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0019 a0001c0001 a0017c0019	a0001c0001t0001 a0017c0019t0002 a0001c0001t0001 a0017c0019t0002	a0001c0001t0001g0077 a0017c0019t0002g0076 a0001c0001t0001g0077 a0017c0019t0002g0076	2	298	0.0067	43	c.119 others(60): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0127 a0001c0002t0004g0127	1	128	0.0078	43	c.317 others(64): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATXN3_chr14_92053552_92111582	92071034	G G	GCTGCTGC others(36): Show GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGT	frameshift_variant frameshift_variant	HIGH	NA18956.hp2 NA18956.hp2	a0037 a0037	a0037c0059 a0037c0059	a0037c0059t0002 a0037c0059t0002	a0037c0059t0002g0280 a0037c0059t0002g0280	1	402	0.0025	43	c.891 others(50): Show c.891_892insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC AGCAG	p.Gln others(5): Show p.Gln298fs	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	921/6884	891/1086	297/361			chr14	TogoVar
AUTS2_chr7_69593475_70798506	69614367	T T	TCTTTCTT others(36): Show TCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	76	0.0132	43	c.309 others(62): Show c.309+14405_309+14406insCTTTCTTTCTTTCTTTTCTTTCTTTT CTTTCTTTCTTTCTTTC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18						chr7	TogoVar
AVL9_chr7_32490489_32593726	32579428	A A	ATATATAT others(36): Show ATATATATATTATATATATTATGTTATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03139.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0076 a0001c0002t0077 a0001c0002t0075 a0001c0002t0076 a0001c0002t0077	a0001c0002t0075g0091 a0001c0002t0076g0089 a0001c0002t0077g0090 a0001c0002t0075g0091 a0001c0002t0076g0089 a0001c0002t0077g0090	3	330	0.0091	43	c.168 others(60): Show c.1689-774_1689-773insTTATGTTATATATATAATATATATATTA TATATATTATATATA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579430	A A	ATATATAT others(36): Show ATATATATAATAATATATATATAATATATAATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0145 a0002c0012t0002g0145	1	330	0.0030	43	c.168 others(60): Show c.1689-782_1689-781insAATAATATATATATAATATATAATATTA TATTATATTATATAT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(36): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	391	0.0026	43	c.36 others(54): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC TGGCAGAGC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3483		chr19	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(36): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA19007.hp1 HG00558.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	391	0.0051	43	c.36 others(54): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCC TGGCAGAGC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3483		chr19	TogoVar
AZU1_chr19_822837_837018	835532	T T	TCCTGGCA others(36): Show TCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	391	0.0026	43	c.36 others(54): Show c.3655_*3656insCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGC GTGCAGCCC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3515		chr19	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0170 a0002c0002t0002g0170	1	268	0.0037	43	c.-38 others(54): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATA TATTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	268	0.0037	43	c.-38 others(54): Show c.-3878_-3877insTATATATATATATATATATATATATATTTTTTTT TTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	83002886	C C	CTCCGCGT others(36): Show CTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(43): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01891.hp1 HG01943.hp1 HG02055.hp2 HG02132.hp1 HG02273.hp1 HG02559.hp2 HG02683.hp1 HG02698.hp1 HG03130.hp1 HG03209.hp2 NA18522.hp2 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18973.hp2 NA18986.hp2 NA19002.hp1 NA19007.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0006 others(8): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0013 a0001c0029 a0002c0005 a0002c0010 a0002c0022 a0005c0026	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(20): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0037 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0023 a0001c0007t0005 a0001c0011t0030 a0001c0013t0012 a0001c0029t0001 a0002c0005t0003 a0002c0005t0007 a0002c0010t0007 a0002c0022t0003 a0005c0026t0006	a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0006g0182 others(40): Show a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0006g0182 a0001c0001t0009g0246 a0001c0001t0037g0259 a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0048 a0001c0004t0002g0050 a0001c0004t0010g0034 a0001c0004t0026g0046 a0001c0004t0031g0035 a0001c0006t0001g0022 a0001c0006t0002g0040 a0001c0006t0006g0038 a0001c0006t0006g0047 a0001c0006t0008g0020 a0001c0006t0023g0030 a0001c0007t0005g0234 a0001c0011t0030g0143 a0001c0013t0012g0001 a0001c0013t0012g0013 a0001c0013t0012g0014 a0001c0029t0001g0141 a0002c0005t0003g0055 a0002c0005t0003g0161 a0002c0005t0003g0175 a0002c0005t0007g0261 a0002c0010t0007g0004 a0002c0010t0007g0216 a0002c0010t0007g0224 a0002c0022t0003g0029 a0005c0026t0006g0176	46	266	0.1729	43	c.459 others(60): Show c.459+2228_459+2229insCTGCGGAGGGCGGGAGGGCGGGCTCAGG AATCCCACACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003001	C C	CTCCGCGT others(36): Show CTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp2 NA19043.hp2 HG02818.hp2 HG02896.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0030 a0001c0006 a0003c0030	a0001c0006t0001 a0001c0006t0011 a0003c0030t0011 a0001c0006t0001 a0001c0006t0011 a0003c0030t0011	a0001c0006t0001g0016 a0001c0006t0011g0027 a0003c0030t0011g0140 a0001c0006t0001g0016 a0001c0006t0011g0027 a0003c0030t0011g0140	3	266	0.0113	43	c.459 others(60): Show c.459+2113_459+2114insCTGCGGAGGGCGGGAGGGCGAGCTCAGG AATCCCACACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003266	C C	CTCCGCGT others(36): Show CTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCCGCAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0027 a0001c0006t0011g0027	1	266	0.0038	43	c.459 others(60): Show c.459+1848_459+1849insCTGCGGAGAGTGGGAGGGCGAGCTCAGG AATCCCACACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003621	A A	ACCCTCCC others(36): Show ACCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG02280.hp1 others(10): Show HG01074.hp1 HG01243.hp1 HG02280.hp1 HG02451.hp1 HG02809.hp2 HG03041.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0025	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0003t0015 a0001c0003t0020 a0001c0003t0034 a0001c0006t0011 a0003c0025t0011	a0001c0001t0001g0051 a0001c0001t0001g0186 a0001c0001t0004g0247 others(10): Show a0001c0001t0001g0051 a0001c0001t0001g0186 a0001c0001t0004g0247 a0001c0001t0005g0256 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0003t0015g0198 a0001c0003t0015g0199 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0003t0034g0197 a0001c0006t0011g0018 a0003c0025t0011g0054	13	266	0.0489	43	c.459 others(60): Show c.459+1493_459+1494insCGGGCTCAGGAATCCCACACGCGGACTG CAGAGAGTGGGAGGG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004271	C C	CTCCGCGT others(36): Show CTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0233 a0001c0007t0005g0233	1	266	0.0038	43	c.459 others(58): Show c.459+801_459+843dupCTGCAGAGAGTGGGAGGGCGGGCTCAGGAA TCCCACACGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004531	T T	TCGCCCTC others(36): Show TCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp2 NA19043.hp2 HG02818.hp2 HG02896.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0030 a0001c0006 a0003c0030	a0001c0006t0001 a0001c0006t0011 a0003c0030t0011 a0001c0006t0001 a0001c0006t0011 a0003c0030t0011	a0001c0006t0001g0016 a0001c0006t0011g0027 a0003c0030t0011g0140 a0001c0006t0001g0016 a0001c0006t0011g0027 a0003c0030t0011g0140	3	266	0.0113	43	c.459 others(58): Show c.459+583_459+584insGGCTCAGGAATCCCACACGCGGACTGCAGA GAGTGGGAGGGCG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B4GALNT3_chr12_454939_568509	480456	C C	CCTGACAT others(36): Show CCTGACATTACGGAAGTCTTGACGGCCTGGTTCCTGAGGTCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(104): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02683.hp1 HG02809.hp2 HG03209.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp2 NA18942.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18967.hp2 NA18975.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0013 a0015 a0017 a0027	a0001c0001 a0001c0002 a0001c0010 others(16): Show a0001c0001 a0001c0002 a0001c0010 a0001c0039 a0001c0041 a0001c0042 a0002c0003 a0003c0004 a0004c0005 a0005c0006 a0005c0017 a0006c0007 a0006c0045 a0008c0012 a0009c0009 a0013c0021 a0015c0031 a0017c0033 a0027c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0096 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0019 a0001c0002t0073 a0001c0002t0089 a0001c0010t0002 a0001c0039t0002 a0001c0041t0012 a0001c0042t0002 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0018 a0002c0003t0025 a0002c0003t0034 a0002c0003t0040 a0003c0004t0003 a0003c0004t0008 a0003c0004t0048 a0004c0005t0003 a0004c0005t0004 a0004c0005t0011 a0004c0005t0015 a0004c0005t0051 a0004c0005t0085 a0005c0006t0004 a0005c0006t0011 a0005c0017t0002 a0006c0007t0039 a0006c0045t0003 a0008c0012t0010 a0009c0009t0003 a0009c0009t0006 a0009c0009t0082 a0013c0021t0001 a0013c0021t0002 a0015c0031t0004 a0017c0033t0001 a0027c0026t0003	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 others(104): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0358 a0001c0001t0001g0393 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0052 a0001c0001t0002g0336 a0001c0001t0003g0135 a0001c0001t0003g0246 a0001c0001t0003g0318 a0001c0001t0004g0043 a0001c0001t0004g0176 a0001c0001t0004g0236 a0001c0001t0004g0264 a0001c0001t0006g0065 a0001c0001t0007g0017 a0001c0001t0007g0025 a0001c0001t0007g0030 a0001c0001t0007g0289 a0001c0001t0008g0011 a0001c0001t0008g0244 a0001c0001t0009g0026 a0001c0001t0009g0028 a0001c0001t0011g0016 a0001c0001t0012g0260 a0001c0001t0014g0247 a0001c0001t0014g0255 a0001c0001t0019g0258 a0001c0001t0021g0013 a0001c0001t0023g0253 a0001c0001t0025g0023 a0001c0001t0026g0273 a0001c0001t0028g0048 a0001c0001t0054g0019 a0001c0001t0057g0252 a0001c0001t0058g0121 a0001c0001t0059g0109 a0001c0001t0060g0080 a0001c0001t0096g0003 a0001c0002t0001g0266 a0001c0002t0001g0316 a0001c0002t0002g0027 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0003g0035 a0001c0002t0003g0053 a0001c0002t0004g0044 a0001c0002t0005g0049 a0001c0002t0005g0050 a0001c0002t0005g0079 a0001c0002t0005g0320 a0001c0002t0006g0387 a0001c0002t0006g0388 a0001c0002t0019g0012 a0001c0002t0073g0062 a0001c0002t0089g0032 a0001c0010t0002g0018 a0001c0010t0002g0256 a0001c0039t0002g0319 a0001c0041t0012g0317 a0001c0042t0002g0203 a0002c0003t0001g0058 a0002c0003t0001g0249 a0002c0003t0001g0335 a0002c0003t0003g0038 a0002c0003t0004g0250 a0002c0003t0006g0046 a0002c0003t0006g0136 a0002c0003t0018g0251 a0002c0003t0025g0061 a0002c0003t0034g0056 a0002c0003t0040g0149 a0003c0004t0003g0134 a0003c0004t0008g0070 a0003c0004t0048g0047 a0004c0005t0003g0122 a0004c0005t0003g0124 a0004c0005t0004g0281 a0004c0005t0011g0057 a0004c0005t0015g0060 a0004c0005t0051g0123 a0004c0005t0085g0081 a0005c0006t0004g0020 a0005c0006t0011g0022 a0005c0017t0002g0259 a0006c0007t0039g0301 a0006c0045t0003g0392 a0008c0012t0010g0293 a0008c0012t0010g0321 a0008c0012t0010g0322 a0009c0009t0003g0041 a0009c0009t0006g0045 a0009c0009t0082g0039 a0013c0021t0001g0031 a0013c0021t0002g0254 a0015c0031t0004g0066 a0017c0033t0001g0001 a0027c0026t0003g0059	107	394	0.2716	43	c.169 others(62): Show c.169+19926_169+19927insTCTTGACGGCCTGGTTCCTGAGGTCC CTCTGACATTACGGAAG		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	480489	C C	CTGAGGTC others(36): Show CTGAGGTCCCTCTGACATTACGGAAGGCTTGACGGCCTGGTTCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01934.hp2 HG02257.hp1 others(20): Show HG01358.hp1 HG01934.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG03195.hp1 HG03540.hp1 HG03654.hp1 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18941.hp2 NA18952.hp1 NA19011.hp2 NA19077.hp2 NA19240.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011	a0001c0001 a0001c0002 a0001c0044 others(7): Show a0001c0001 a0001c0002 a0001c0044 a0002c0003 a0003c0004 a0004c0005 a0005c0006 a0006c0007 a0007c0008 a0011c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0055 a0001c0002t0001 a0001c0044t0001 a0002c0003t0002 a0002c0003t0041 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0003c0004t0020 a0003c0004t0029 a0003c0004t0080 a0004c0005t0034 a0004c0005t0043 a0005c0006t0008 a0006c0007t0002 a0007c0008t0007 a0011c0015t0092	a0001c0001t0001g0223 a0001c0001t0004g0214 a0001c0001t0011g0218 others(20): Show a0001c0001t0001g0223 a0001c0001t0004g0214 a0001c0001t0011g0218 a0001c0001t0015g0224 a0001c0001t0016g0282 a0001c0001t0020g0212 a0001c0001t0055g0181 a0001c0002t0001g0220 a0001c0044t0001g0383 a0002c0003t0002g0215 a0002c0003t0041g0221 a0003c0004t0001g0217 a0003c0004t0002g0285 a0003c0004t0004g0390 a0003c0004t0020g0189 a0003c0004t0029g0182 a0003c0004t0080g0201 a0004c0005t0034g0371 a0004c0005t0043g0219 a0005c0006t0008g0216 a0006c0007t0002g0180 a0007c0008t0007g0287 a0011c0015t0092g0234	23	394	0.0584	43	c.169 others(62): Show c.169+19953_169+19954insTCTGACATTACGGAAGGCTTGACGGC CTGGTTCTTGAGGTCCC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
BABAM2_chr2_27885729_28343901	28112147	T T	TTCTTTCT others(36): Show TTCTTTCTTTCTTTCTTTCTTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	158	0.0063	43	c.571 others(62): Show c.571-17123_571-17122insCTTTCTTTCTTTCTTTCTTCCCTCCC TCCCTCCCTCCCTCCCT		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112169	C C	CCCTTCCT others(36): Show CCCTTCCTTCCTTCCTTCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	158	0.0063	43	c.571 others(62): Show c.571-17099_571-17098insTCCTTCCTTCCTTCTCCCTTCCTTCC TTCCTTCCTTCCTTCCT		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112177	C C	CCCTTCCT others(36): Show CCCTTCCTTCCTTCCTTCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	158	0.0063	43	c.571 others(62): Show c.571-17091_571-17090insTCCTTCCTTCCTTCTCCCTTCCTTCC TTCCTTCCTTCCTTCCT		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 2299 hits)