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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
AGR3_chr7_16854412_16886983	16880470	CTCCCCTC others(3): Show CTCCCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02258.hp2 HG02615.hp1 others(1): Show HG01074.hp1 HG02258.hp2 HG02615.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0305 others(1): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0305 a0001c0001t0002g0304	4	458	0.0087	-10	c.-28 others(27): Show c.-28+1464_-28+1473delAAGGAGGGGA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGR3_chr7_16854412_16886983	16880547	CTCCCCTC others(3): Show CTCCCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	458	0.0022	-10	c.-28 others(27): Show c.-28+1387_-28+1396delAAGGAGGGGA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGR3_chr7_16854412_16886983	16885843	GTCGTGAT others(3): Show GTCGTGATAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	458	0.0022	-10	c.-39 others(21): Show c.-3937_-3928delGTTATCACGA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding		3861		chr7	TogoVar
AGRN_chr1_1015120_1061116	1041118	GGGGCGGG others(3): Show GGGGCGGGAGC	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0002 a0005c0003t0002	a0005c0003t0002g0027 a0005c0003t0002g0027	1	210	0.0048	-10	c.728 others(23): Show c.728-51_728-42delCGGGAGCGGG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	4/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1042570	GCCGTCGT others(3): Show GCCGTCGTGTC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	210	0.0048	-10	c.138 others(27): Show c.1384+418_1384+427delCCCGTCGTGT	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1048767	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0002 a0005c0003t0002	a0005c0003t0002g0027 a0005c0003t0002g0027	1	210	0.0048	-10	c.410 others(25): Show c.4106-87_4106-78delAAAAAAAAAA	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	23/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1052756	GGTCCATG others(3): Show GGTCCATGTGT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18522.hp1 HG02622.hp2 NA18522.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0015 a0010c0014t0016 a0010c0014t0015 a0010c0014t0016	a0010c0014t0015g0051 a0010c0014t0016g0052 a0010c0014t0015g0051 a0010c0014t0016g0052	2	210	0.0095	-10	c.565 others(27): Show c.5651+944_5651+953delCCATGTGTGT	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1056496	CACGTGTG others(3): Show CACGTGTGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03130.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp1	a0001 a0024 a0001 a0024	a0001c0013 a0024c0050 a0001c0013 a0024c0050	a0001c0013t0010 a0024c0050t0018 a0001c0013t0010 a0024c0050t0018	a0001c0013t0010g0011 a0001c0013t0010g0020 a0024c0050t0018g0022 a0001c0013t0010g0011 a0001c0013t0010g0020 a0024c0050t0018g0022	3	210	0.0143	-10	c.15 others(21): Show c.1516_*1525delACGTGTGGGT	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding		381		chr1	TogoVar
AGTPBP1_chr9_85541539_85746954	85572002	GTGTTTTT others(3): Show GTGTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01261.hp1 HG01433.hp1 others(5): Show HG01069.hp2 HG01261.hp1 HG01433.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04199.hp1 NA19055.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0003c0014t0006	a0001c0001t0001g0038 a0001c0001t0002g0211 a0001c0001t0002g0212 others(5): Show a0001c0001t0001g0038 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0003g0297 a0001c0001t0006g0298 a0003c0014t0006g0299	8	302	0.0265	-10	c.350 others(29): Show c.3503+3303_3503+3312delAAAAAAAACA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85599110	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01884.hp1 others(1): Show HG01168.hp1 HG01169.hp1 HG01884.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0153	4	302	0.0133	-10	c.233 others(29): Show c.2336-2671_2336-2662delGTGTGTGTGT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	17/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85668967	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01891.hp2 HG01975.hp1 others(13): Show HG00544.hp1 HG01891.hp2 HG01975.hp1 HG02257.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG04204.hp1 HG06807.hp2 NA18939.hp2 NA18946.hp2 NA18971.hp2 NA18979.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0005c0006t0001	a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0056 others(13): Show a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0002g0209 a0001c0001t0002g0223 a0001c0002t0001g0147 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0290 a0005c0006t0001g0074	16	302	0.0530	-10	c.662 others(25): Show c.662+508_662+517delCACACACACA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	8/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85691536	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	302	0.0033	-10	c.157 others(27): Show c.157+1143_157+1152delACACACACAC	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85698679	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	302	0.0033	-10	c.33- others(25): Show c.33-5876_33-5867delAAAAAAAAAA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	2/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85728030	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0137 a0001c0001t0009g0137	1	302	0.0033	-10	c.-34 others(29): Show c.-34+13735_-34+13744delGTGTGTGTGT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	1/25			chr9	TogoVar
AGT_chr1_230697523_230719122	230701148	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG02723.hp2 HG03486.hp2 others(4): Show HG00099.hp1 HG02723.hp2 HG03486.hp2 HG03516.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0102 a0002c0002t0002g0126	7	456	0.0154	-10	c.19 others(21): Show c.1983_*1992delCACACACACA	AGT	ENSG00000135744.9	transcript	ENST00000366667.6	protein_coding		1374		chr1	TogoVar
AGXT2_chr5_34993102_35052949	35011915	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01346.hp2 HG00733.hp2 HG00735.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0224 a0001c0001t0003g0010 a0001c0001t0003g0224	3	384	0.0078	-10	c.118 others(29): Show c.1188+1029_1188+1038delGTGTGTGTGT	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	11/13			chr5	TogoVar
AGXT2_chr5_34993102_35052949	35028558	TGAGAGAG others(3): Show TGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01167.hp2 others(18): Show HG01074.hp1 HG01106.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG02040.hp2 HG02809.hp1 HG02970.hp1 HG03098.hp2 HG04228.hp1 NA18522.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp1 NA18955.hp2 NA18984.hp2 NA18987.hp1 NA19001.hp1 NA19088.hp1 NA20752.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0008 a0009 a0017 a0019	a0001c0001 a0001c0003 a0003c0006 others(6): Show a0001c0001 a0001c0003 a0003c0006 a0003c0012 a0004c0004 a0008c0008 a0009c0020 a0017c0033 a0019c0027	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0003t0003 a0003c0006t0002 a0003c0006t0006 a0003c0012t0002 a0004c0004t0001 a0004c0004t0004 a0008c0008t0001 a0009c0020t0002 a0017c0033t0002 a0019c0027t0003	a0001c0001t0001g0015 a0001c0001t0001g0148 a0001c0001t0001g0181 others(18): Show a0001c0001t0001g0015 a0001c0001t0001g0148 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0004g0219 a0001c0003t0001g0089 a0001c0003t0003g0086 a0003c0006t0002g0218 a0003c0006t0006g0370 a0003c0012t0002g0052 a0004c0004t0001g0234 a0004c0004t0001g0314 a0004c0004t0004g0310 a0008c0008t0001g0328 a0009c0020t0002g0037 a0017c0033t0002g0233 a0019c0027t0003g0180	21	384	0.0547	-10	c.770 others(27): Show c.770-2058_770-2049delTCTCTCTCTC	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	7/13			chr5	TogoVar
AGXT_chr2_240863824_240885500	240865033	CTATTTTT others(3): Show CTATTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG02922.hp2 others(2): Show HG02257.hp2 HG02922.hp1 HG02922.hp2 HG03486.hp1 HG06807.hp2	a0006 a0011 a0006 a0011	a0006c0007 a0011c0014 a0006c0007 a0011c0014	a0006c0007t0009 a0011c0014t0011 a0006c0007t0009 a0011c0014t0011	a0006c0007t0009g0027 a0006c0007t0009g0085 a0011c0014t0011g0086 a0006c0007t0009g0027 a0006c0007t0009g0085 a0011c0014t0011g0086	5	444	0.0113	-10	c.-38 others(21): Show c.-3832_-3823delTATTTTTTTT	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding		3790		chr2	TogoVar
AGXT_chr2_240863824_240885500	240883680	ATTTCTTT others(3): Show ATTTCTTTTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01070.hp1 others(71): Show HG00639.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01243.hp2 HG01255.hp1 HG01891.hp2 HG01934.hp2 HG02015.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03927.hp1 HG04115.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19076.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0025 others(1): Show a0001c0001 a0001c0002 a0001c0025 a0012c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 a0001c0002t0003 a0001c0002t0026 a0001c0002t0031 a0001c0025t0028 a0012c0015t0003	a0001c0001t0002g0002 a0001c0001t0003g0018 a0001c0001t0003g0040 others(26): Show a0001c0001t0002g0002 a0001c0001t0003g0018 a0001c0001t0003g0040 a0001c0001t0003g0047 a0001c0001t0003g0058 a0001c0001t0003g0065 a0001c0001t0003g0111 a0001c0001t0025g0047 a0001c0002t0003g0003 a0001c0002t0003g0024 a0001c0002t0003g0029 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0083 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0026g0090 a0001c0002t0031g0096 a0001c0025t0028g0112 a0012c0015t0003g0121	74	444	0.1667	-10	c.48 others(21): Show c.4860_*4869delTTTCTTTTCT	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding		3181		chr2	TogoVar
AHCTF1_chr1_246834098_246936948	246834949	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02027.hp2 HG02615.hp1 others(12): Show HG01175.hp1 HG02027.hp2 HG02615.hp1 HG02735.hp2 HG03041.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18969.hp1 NA18973.hp1 NA18993.hp1 NA18998.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0002c0013 others(2): Show a0001c0001 a0002c0002 a0002c0013 a0003c0003 a0006c0011	a0001c0001t0001 a0002c0002t0001 a0002c0013t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0013t0001 a0003c0003t0001 a0006c0011t0007	a0001c0001t0001g0135 a0001c0001t0001g0169 a0001c0001t0001g0249 others(12): Show a0001c0001t0001g0135 a0001c0001t0001g0169 a0001c0001t0001g0249 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0337 a0002c0002t0001g0062 a0002c0013t0001g0123 a0003c0003t0001g0196 a0006c0011t0007g0156	15	376	0.0399	-10	c.58 others(21): Show c.5847_*5856delAAAAAAAAAA	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding		4148		chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246878396	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04228.hp1 HG01099.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0295 a0002c0002t0001g0060 a0001c0001t0001g0295 a0002c0002t0001g0060	2	376	0.0053	-10	c.266 others(29): Show c.2661-1104_2661-1095delTTTTTTTTTT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	21/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246892301	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02148.hp1 HG01975.hp2 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0016 a0002c0002t0001 a0002c0002t0016	a0002c0002t0001g0101 a0002c0002t0016g0052 a0002c0002t0001g0101 a0002c0002t0016g0052	2	376	0.0053	-10	c.180 others(27): Show c.1805-392_1805-383delAAAAAAAAAA	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	14/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246898621	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03209.hp2 HG02280.hp1 HG03209.hp2	a0003 a0019 a0003 a0019	a0003c0003 a0019c0033 a0003c0003 a0019c0033	a0003c0003t0001 a0019c0033t0001 a0003c0003t0001 a0019c0033t0001	a0003c0003t0001g0278 a0019c0033t0001g0279 a0003c0003t0001g0278 a0019c0033t0001g0279	2	376	0.0053	-10	c.149 others(27): Show c.1495-295_1495-286delGTGTGTGTGT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	11/35			chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129229061	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(258): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0017 a0002c0003t0002 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(258): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0292 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0070 a0001c0001t0002g0075 a0001c0001t0002g0084 a0001c0001t0002g0110 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0289 a0001c0001t0003g0091 a0001c0001t0003g0135 a0001c0001t0003g0139 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0182 a0001c0001t0003g0187 a0001c0001t0004g0007 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0141 a0001c0001t0004g0144 a0001c0001t0004g0158 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0005g0051 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0008g0150 a0001c0001t0008g0163 a0001c0001t0008g0184 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0099 a0001c0001t0011g0033 a0001c0001t0011g0290 a0001c0001t0011g0291 a0001c0001t0014g0067 a0001c0001t0014g0068 a0001c0001t0015g0077 a0001c0001t0015g0078 a0001c0001t0017g0066 a0001c0001t0019g0155 a0001c0001t0020g0161 a0001c0001t0021g0092 a0001c0001t0022g0050 a0001c0001t0023g0095 a0001c0001t0025g0082 a0001c0001t0026g0152 a0001c0001t0027g0045 a0001c0002t0001g0190 a0001c0002t0001g0196 a0001c0002t0001g0203 a0001c0002t0001g0250 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0002g0001 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0251 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0260 a0001c0002t0002g0262 a0001c0002t0002g0268 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0003g0189 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0252 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0261 a0001c0002t0003g0264 a0001c0002t0003g0266 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0004g0236 a0001c0002t0006g0219 a0001c0002t0010g0273 a0001c0002t0010g0274 a0001c0002t0010g0275 a0001c0002t0017g0253 a0002c0003t0002g0199 a0003c0004t0001g0042	261	292	0.8938	-10	c.363 others(27): Show c.363+3636_363+3645delTTTTTTTTTT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129243953	CTTATTTT others(3): Show CTTATTTTATT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02735.hp2 HG02738.hp2 others(1): Show HG00741.hp1 HG02735.hp2 HG02738.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0138 a0001c0001t0002g0047 a0001c0001t0002g0053 others(1): Show a0001c0001t0001g0138 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0002t0003g0197	4	292	0.0137	-10	c.363 others(29): Show c.363+18531_363+18540delTATTTTATTT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129299369	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	292	0.0034	-10	c.363 others(29): Show c.363+73963_363+73972delTTTTTTTTTT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129336041	CTTCTCTT others(3): Show CTTCTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01243.hp2 others(18): Show HG01069.hp1 HG01071.hp1 HG01243.hp2 HG01496.hp2 HG02055.hp1 HG02145.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0002t0001 a0001c0005t0024	a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0124 others(18): Show a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0006g0116 a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0006g0128 a0001c0001t0012g0114 a0001c0001t0012g0120 a0001c0001t0012g0131 a0001c0001t0013g0118 a0001c0001t0013g0119 a0001c0001t0016g0121 a0001c0001t0016g0132 a0001c0002t0001g0250 a0001c0005t0024g0113	21	292	0.0719	-10	c.364 others(29): Show c.364-43587_364-43578delTTTCTCTTCT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129369550	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	292	0.0034	-10	c.364 others(29): Show c.364-10077_364-10068delTTTTTTTTTT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHI1_chr6_135278532_135502740	135293396	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01167.hp1 others(13): Show HG01074.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01496.hp2 HG01891.hp1 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp1 HG03209.hp2 NA18522.hp1 NA18981.hp2 NA19240.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0009c0017	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0003t0004 a0001c0010t0014 a0009c0017t0003	a0001c0001t0002g0081 a0001c0001t0003g0029 a0001c0001t0003g0033 others(13): Show a0001c0001t0002g0081 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0045 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0003t0002g0219 a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0010t0014g0020 a0009c0017t0003g0030	16	220	0.0727	-10	c.348 others(29): Show c.3486-2881_3486-2872delCTTTTTTTTT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	27/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135340654	CATACATA others(3): Show CATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02055.hp1 HG02109.hp1 others(9): Show HG00609.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02559.hp1 HG02559.hp2 HG02717.hp1 HG02922.hp1 HG03041.hp1 HG03516.hp1 NA19043.hp2 NA19240.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0010 a0009c0017 a0001c0001 a0001c0010 a0009c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 a0001c0010t0014 a0009c0017t0003	a0001c0001t0001g0165 a0001c0001t0003g0029 a0001c0001t0003g0034 others(9): Show a0001c0001t0001g0165 a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0015g0217 a0001c0001t0017g0036 a0001c0010t0014g0020 a0009c0017t0003g0030	12	220	0.0546	-10	c.316 others(31): Show c.3166-17340_3166-17331delATATATGTAT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135361645	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02056.hp1 HG02109.hp1 others(24): Show HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02630.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03516.hp1 HG03516.hp2 HG03710.hp2 HG03834.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA19030.hp1 NA19043.hp2 NA19065.hp1 NA19079.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001 a0001c0002t0004 a0001c0003t0004 a0001c0014t0004 a0002c0004t0002	a0001c0001t0002g0011 a0001c0001t0002g0041 a0001c0001t0003g0018 others(24): Show a0001c0001t0002g0011 a0001c0001t0002g0041 a0001c0001t0003g0018 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0118 a0001c0001t0003g0182 a0001c0001t0004g0016 a0001c0001t0012g0019 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0004g0022 a0001c0002t0004g0027 a0001c0002t0004g0031 a0001c0003t0004g0017 a0001c0014t0004g0024 a0002c0004t0002g0013 a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0047	27	220	0.1227	-10	c.311 others(29): Show c.3110-3468_3110-3459delTGTGTGTGTG	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135374100	ATATATAT others(3): Show ATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02055.hp1 HG02055.hp2 others(10): Show HG00609.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02630.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03516.hp1 NA18960.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0055 a0001c0001t0001g0092 a0001c0001t0001g0093 others(10): Show a0001c0001t0001g0055 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0041 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0012g0019	13	220	0.0591	-10	c.311 others(31): Show c.3110-15923_3110-15914delAATATATATA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135374102	ATATATAT others(3): Show ATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG00738.hp1 others(28): Show HG00438.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02135.hp1 HG02293.hp1 HG03688.hp1 HG03834.hp1 NA18940.hp1 NA18944.hp2 NA18951.hp1 NA18952.hp1 NA18963.hp1 NA18978.hp2 NA18981.hp2 NA18990.hp1 NA18991.hp1 NA18999.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19065.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0012 a0001 a0011 a0012	a0001c0001 a0011c0022 a0012c0011 a0001c0001 a0011c0022 a0012c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0011c0022t0001 a0012c0011t0001	a0001c0001t0001g0010 a0001c0001t0001g0054 a0001c0001t0001g0057 others(28): Show a0001c0001t0001g0010 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0002g0081 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0009g0069 a0001c0001t0009g0082 a0001c0001t0016g0056 a0011c0022t0001g0089 a0012c0011t0001g0059	31	220	0.1409	-10	c.311 others(31): Show c.3110-15925_3110-15916delAAAATATATA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135374104	ATATATTT others(3): Show ATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02056.hp1 HG02698.hp1 others(2): Show HG00733.hp2 HG02056.hp1 HG02698.hp1 HG03041.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0001t0001 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0220 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0220 a0001c0001t0003g0018 a0001c0002t0004g0031	5	220	0.0227	-10	c.311 others(31): Show c.3110-15927_3110-15918delAAAAAATATA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135374106	ATATTTTT others(3): Show ATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	220	0.0046	-10	c.311 others(31): Show c.3110-15929_3110-15920delAAAAAAAATA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135376881	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG03130.hp1 others(3): Show HG01891.hp2 HG02451.hp1 HG03130.hp1 HG04199.hp1 NA18522.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004	a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0118 others(3): Show a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0118 a0001c0001t0004g0114 a0001c0002t0001g0023 a0001c0002t0004g0026	6	220	0.0273	-10	c.310 others(31): Show c.3109+17885_3109+17894delTTTTTTTTTT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135382894	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0198	1	220	0.0046	-10	c.310 others(31): Show c.3109+11872_3109+11881delTTTTTTTTTT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135424655	AACATATG others(3): Show AACATATGTTT	A A	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	220	0.0046	-10	c.276 others(29): Show c.2764+2502_2764+2511delAAACATATGT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	20/28			chr6	TogoVar
AHRR_chr5_316714_443285	340684	ATATATTT others(3): Show ATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp1 HG02451.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0256 a0002c0002t0001g0255 a0001c0001t0001g0256 a0002c0002t0001g0255	2	268	0.0075	-10	c.-10 others(27): Show c.-10-3207_-10-3198delATATTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340686	ATATTTTT others(3): Show ATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0261 a0001c0001t0060g0261	1	268	0.0037	-10	c.-10 others(27): Show c.-10-3205_-10-3196delATTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	345255	TGGGGAGA others(3): Show TGGGGAGAGGG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0014 a0003c0004t0004g0014	1	268	0.0037	-10	c.62+ others(25): Show c.62+1293_62+1302delGGGAGAGGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	381506	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp1 HG01106.hp1 HG02257.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0002c0002t0006 a0001c0001t0017 a0002c0002t0006	a0001c0001t0017g0034 a0002c0002t0006g0120 a0001c0001t0017g0034 a0002c0002t0006g0120	2	268	0.0075	-10	c.351 others(27): Show c.351+4808_351+4817delTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	441497	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG01515.hp1 others(4): Show HG00639.hp1 HG01123.hp2 HG01515.hp1 HG01517.hp1 HG02300.hp2 HG03834.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0012 a0003c0004t0053 a0002c0002t0001 a0003c0004t0012 a0003c0004t0053	a0002c0002t0001g0192 a0003c0004t0012g0001 a0003c0004t0012g0110 others(3): Show a0002c0002t0001g0192 a0003c0004t0012g0001 a0003c0004t0012g0110 a0003c0004t0012g0168 a0003c0004t0012g0195 a0003c0004t0053g0198	7	268	0.0261	-10	c.66 others(21): Show c.6664_*6673delTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3213		chr5	TogoVar
AHSA1_chr14_77453093_77474472	77471848	AAAAAGAA others(3): Show AAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02809.hp2 others(3): Show HG01109.hp1 HG02145.hp2 HG02809.hp2 HG03225.hp2 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 others(3): Show a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0087	6	308	0.0195	-10	c.26 others(21): Show c.2600_*2609delAAAAGAAAAG	AHSA1	ENSG00000100591.8	transcript	ENST00000216479.8	protein_coding		2377		chr14	TogoVar
AHSG_chr3_186608060_186626318	186610550	TTTGTTTT others(3): Show TTTGTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02630.hp2 others(3): Show HG01884.hp2 HG02145.hp1 HG02630.hp2 HG02976.hp2 HG03195.hp2 HG03453.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0030 a0005c0007t0001g0027 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0030 a0005c0007t0001g0027 a0005c0007t0001g0068	6	440	0.0136	-10	c.-25 others(21): Show c.-2591_-2582delTTGTTTTTTG	AHSG	ENSG00000145192.13	transcript	ENST00000411641.7	protein_coding		2509		chr3	TogoVar
AHSP_chr16_31522900_31533803	31532696	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(37): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00735.hp1 HG01071.hp1 HG01109.hp2 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02280.hp1 HG02630.hp2 HG02922.hp2 HG03209.hp2 HG03540.hp2 NA18940.hp1 NA18941.hp1 NA18952.hp2 NA18961.hp1 NA18969.hp1 NA18977.hp2 NA18984.hp1 NA18986.hp1 NA18992.hp2 NA19004.hp2 NA19010.hp2 NA19012.hp1 NA19064.hp2 NA19077.hp2 NA19081.hp2 NA19089.hp2 NA19090.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	40	388	0.1031	-10	c.40 others(21): Show c.4006_*4015delTTTTTTTTTT	AHSP	ENSG00000169877.10	transcript	ENST00000302312.9	protein_coding		3894		chr16	TogoVar
AICDA_chr12_8597170_8617859	8610993	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02735.hp1 others(10): Show HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02976.hp1 NA18906.hp2 NA18943.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA19030.hp1 NA19054.hp2 NA19079.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0002t0001 a0001c0012t0001	a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0003g0111 others(8): Show a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0010g0110 a0001c0001t0014g0115 a0001c0002t0001g0016 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0012t0001g0119	13	458	0.0284	-10	c.8+1 others(23): Show c.8+1757_8+1766delCACACACACA	AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	1/4			chr12	TogoVar
AIDA_chr1_222663013_222717491	222686772	CATACTTA others(3): Show CATACTTATGA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	368	0.0027	-10	c.460 others(25): Show c.460+148_460+157delTCATAAGTAT	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	6/9			chr1	TogoVar
AIDA_chr1_222663013_222717491	222689479	GTGTATAT others(3): Show GTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02630.hp2 HG02886.hp1 others(4): Show HG01433.hp1 HG02630.hp2 HG02886.hp1 HG03471.hp2 NA18984.hp2 NA18990.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0030 a0001c0001t0001g0204 a0001c0001t0001g0235 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0204 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0004g0045	7	368	0.0190	-10	c.290 others(27): Show c.290-1831_290-1822delTATATATACA	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	4/9			chr1	TogoVar
AIDA_chr1_222663013_222717491	222689481	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG03098.hp1 others(1): Show HG02886.hp2 HG02895.hp2 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0035 a0001c0002t0001g0017 a0001c0002t0001g0086 a0001c0001t0001g0035 a0001c0002t0001g0017 a0001c0002t0001g0086	4	368	0.0109	-10	c.290 others(27): Show c.290-1833_290-1824delTATATATATA	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	4/9			chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)