Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SNX1_chr15_64090982_64149231	64140983	T T	TAGATAGA others(18): Show TAGATAGATAGATAGATAGATAGATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG03225.hp2 HG02109.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0047 a0001c0002t0088 a0001c0001t0047 a0001c0002t0088	a0001c0001t0047g0152 a0001c0002t0088g0208 a0001c0001t0047g0152 a0001c0002t0088g0208	2	270	0.0074	25	c.33 others(36): Show c.3365_*3366insAGATAGATAGATAGATAGATAGATA	SNX1	ENSG00000028528.15	transcript	ENST00000559844.6	protein_coding	15/15	3366		chr15	TogoVar
SNX20_chr16_50666629_50686312	50685036	T T	TATCTCAT others(18): Show TATCTCATCTCATCTCATCTCATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0162 a0002c0002t0012g0162	1	416	0.0024	25	c.-38 others(36): Show c.-3857_-3856insGAGATGAGATGAGATGAGATGAGAT	SNX20	ENSG00000167208.16	transcript	ENST00000330943.9	protein_coding		3725		chr16	TogoVar
SNX24_chr5_122840613_123014205	122964247	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0254	1	330	0.0030	25	c.249 others(44): Show c.249+18089_249+18113dupAAAAAAAAAAAAAAAAAAAAAAAAA	SNX24	ENSG00000064652.11	transcript	ENST00000261369.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX27_chr1_151607050_151704080	151681235	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG01081.hp2 others(9): Show HG00280.hp2 HG00438.hp2 HG01081.hp2 HG02015.hp2 HG02622.hp2 HG03834.hp1 NA18975.hp1 NA18980.hp1 NA18997.hp2 NA19005.hp2 NA19064.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0029 others(6): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0029 a0001c0001t0040 a0001c0001t0053 a0001c0001t0098 a0001c0001t0105 a0001c0001t0111 a0001c0001t0128	a0001c0001t0006g0001 a0001c0001t0006g0188 a0001c0001t0014g0246 others(8): Show a0001c0001t0006g0001 a0001c0001t0006g0188 a0001c0001t0014g0246 a0001c0001t0029g0244 a0001c0001t0040g0249 a0001c0001t0040g0252 a0001c0001t0053g0245 a0001c0001t0098g0187 a0001c0001t0105g0082 a0001c0001t0111g0222 a0001c0001t0128g0226	12	366	0.0328	25	c.115 others(44): Show c.1150-2097_1150-2096insTTTTTTTTTTTTTTTTTTTTTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	11979275	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0086 a0001c0002t0086	a0001c0002t0086g0066 a0001c0002t0086g0066	1	176	0.0057	25	c.7+2 others(38): Show c.7+2486_7+2487insAAAAAAAAAAAAAAAAAAAAAAAAA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12013500	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0092 a0001c0004t0092	a0001c0004t0092g0102 a0001c0004t0092g0102	1	176	0.0057	25	c.122 others(44): Show c.122+10458_122+10459insAAAAAAAAATATATATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12063366	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18950.hp2 HG01175.hp1 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0024 a0002c0005 a0001c0024 a0002c0005	a0001c0024t0038 a0002c0005t0039 a0001c0024t0038 a0002c0005t0039	a0001c0024t0038g0148 a0002c0005t0039g0013 a0001c0024t0038g0148 a0002c0005t0039g0013	2	176	0.0114	25	c.124 others(44): Show c.1243+1722_1243+1746dupTTTTTTTTTTTTTTTTTTTTTTTTT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12361975	A A	ATGCGCCT others(18): Show ATGCGCCTATACATGTTAATAACGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG00733.hp2 others(10): Show HG00558.hp2 HG00673.hp2 HG00733.hp2 HG02257.hp1 HG02451.hp2 HG02523.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA19043.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0018 a0003c0008 a0008c0019	a0001c0001t0017 a0001c0001t0034 a0001c0001t0035 others(10): Show a0001c0001t0017 a0001c0001t0034 a0001c0001t0035 a0001c0002t0081 a0001c0002t0089 a0001c0002t0109 a0001c0003t0002 a0001c0003t0056 a0001c0003t0104 a0001c0004t0080 a0001c0018t0007 a0003c0008t0010 a0008c0019t0019	a0001c0001t0017g0101 a0001c0001t0034g0063 a0001c0001t0035g0087 others(10): Show a0001c0001t0017g0101 a0001c0001t0034g0063 a0001c0001t0035g0087 a0001c0002t0081g0021 a0001c0002t0089g0072 a0001c0002t0109g0036 a0001c0003t0002g0058 a0001c0003t0056g0033 a0001c0003t0104g0156 a0001c0004t0080g0054 a0001c0018t0007g0057 a0003c0008t0010g0145 a0008c0019t0019g0067	13	176	0.0739	25	c.189 others(44): Show c.1899+5696_1899+5697insTGCGCCTATACATGTTAATAACGAG	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20			chr16	TogoVar
SNX29_chr16_11971734_12579287	12364161	T T	TTGTTATG others(18): Show TTGTTATGTTATGTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18969.hp1 NA18969.hp2 others(1): Show HG03834.hp2 NA18969.hp1 NA18969.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0014 a0001c0001t0112 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0112 a0001c0003t0006	a0001c0001t0001g0153 a0001c0001t0014g0099 a0001c0001t0112g0139 others(1): Show a0001c0001t0001g0153 a0001c0001t0014g0099 a0001c0001t0112g0139 a0001c0003t0006g0144	4	176	0.0227	25	c.189 others(44): Show c.1899+7914_1899+7938dupGTTATGTTATGTTATGTTATGTTAT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX2_chr5_122770080_122839543	122825136	T T	TTTTTTAT others(18): Show TTTTTTATTTGGAATAAATTAAAATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	372	0.0027	25	c.121 others(42): Show c.1213-913_1213-889dupTTTTTATTTGGAATAAATTAAAATA	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX31_chr8_100567889_100654665	100641565	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0183 a0003c0003t0003g0183	1	304	0.0033	25	c.142 others(42): Show c.142-5555_142-5554insATATATATATTTTTTTTTTTTTTTT	SNX31	ENSG00000174226.9	transcript	ENST00000311812.7	protein_coding	2/13			chr8	TogoVar
SNX32_chr11_65828963_65858701	65839225	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG03139.hp2 others(2): Show HG02622.hp2 HG02717.hp2 HG03139.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0240 a0001c0001t0002g0241 others(1): Show a0001c0001t0002g0036 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0261	5	390	0.0128	25	c.36+ others(40): Show c.36+5146_36+5147insTTTTTTTTTTTTTTTTTTTTTTTTT	SNX32	ENSG00000172803.18	transcript	ENST00000308342.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
SNX4_chr3_125441650_125525202	125471344	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	360	0.0028	25	c.789 others(42): Show c.789-1850_789-1826dupTTTTTTTTTTTTTTTTTTTTTTTTT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	8/13			chr3	TogoVar
SNX7_chr1_98656721_98765500	98763439	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG06807.hp1 HG03654.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0034 a0001c0001t0001g0049	2	378	0.0053	25	c.33 others(36): Show c.3308_*3309insTATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2940		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763441	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG04228.hp1 others(1): Show HG01167.hp2 HG01169.hp2 HG04228.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0055 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0258	4	378	0.0106	25	c.33 others(36): Show c.3310_*3311insTATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2942		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	378	0.0027	25	c.33 others(36): Show c.3312_*3313insAAAATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02970.hp2 NA20752.hp1 HG00140.hp1 HG02970.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0270 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0270	3	378	0.0079	25	c.33 others(36): Show c.3312_*3313insAATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA19063.hp1 NA19070.hp2 others(2): Show NA18993.hp2 NA19063.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0083 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0008t0001g0094	5	378	0.0132	25	c.33 others(36): Show c.3312_*3313insTATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX9_chr6_157818246_157950077	157827031	T T	TATATTAT others(18): Show TATATTATAGTTTATATAATATAAAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0276 a0001c0003t0003g0276	1	302	0.0033	25	c.12+ others(40): Show c.12+3589_12+3590insTATAGTTTATATAATATAAACATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	302	0.0033	25	c.12+ others(42): Show c.12+21153_12+21154insTTTTTTTTTTTTTTTTTTTTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179351721	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0142 a0001c0004t0011g0142	1	382	0.0026	25	c.159 others(42): Show c.1596+275_1596+276insTTTTTTTTTTTTTTTTTTTTTTTTT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOCS6_chr18_70284045_70335199	70285811	G G	GTTTCTTT others(18): Show GTTTCTTTTCTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp2 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0005t0011 a0001c0001t0010 a0001c0005t0011	a0001c0001t0010g0193 a0001c0005t0011g0155 a0001c0001t0010g0193 a0001c0005t0011g0155	2	358	0.0056	25	c.-34 others(36): Show c.-3406_-3405insTTTCTTTTCTTTTCTTTTCTTTTCT	SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding		3233		chr18	TogoVar
SOGA1_chr20_36772447_36868538	36826351	C C	CCCCCTCT others(18): Show CCCCCTCTCCCTCCCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0138 a0004c0006t0002g0138	1	282	0.0036	25	c.107 others(44): Show c.1071+2702_1071+2703insAGGGGGGAGGGGGGAGGGAGAGGGG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	3/14			chr20	TogoVar
SOGA1_chr20_36772447_36868538	36826351	C C	CCCCCTCT others(18): Show CCCCCTCTCCCTCCCCCTCCCCCCCT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0140 a0004c0006t0002g0140	1	282	0.0036	25	c.107 others(44): Show c.1071+2702_1071+2703insAGGGGGGGAGGGGGAGGGAGAGGGG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	3/14			chr20	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG03490.hp1 others(5): Show HG02257.hp2 HG02559.hp2 HG03490.hp1 NA18948.hp1 NA18989.hp1 NA19010.hp1 NA19066.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0204 a0001c0001t0001g0275	8	420	0.0191	25	c.641 others(42): Show c.641+5485_641+5486insAAAAAAAAAAAAAAAAAAAAAAAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SORBS1_chr10_95306773_95566371	95347441	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG02723.hp1 others(7): Show HG02280.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG03130.hp2 HG03453.hp1 HG03540.hp2 NA18940.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0002 a0001c0003 a0002c0006 others(4): Show a0001c0002 a0001c0003 a0002c0006 a0002c0007 a0003c0010 a0005c0021 a0007c0016	a0001c0002t0001 a0001c0003t0002 a0002c0006t0002 others(4): Show a0001c0002t0001 a0001c0003t0002 a0002c0006t0002 a0002c0007t0002 a0003c0010t0001 a0005c0021t0016 a0007c0016t0002	a0001c0002t0001g0021 a0001c0003t0002g0240 a0002c0006t0002g0089 others(7): Show a0001c0002t0001g0021 a0001c0003t0002g0240 a0002c0006t0002g0089 a0002c0006t0002g0147 a0002c0007t0002g0042 a0003c0010t0001g0163 a0003c0010t0001g0165 a0005c0021t0016g0133 a0005c0021t0016g0143 a0007c0016t0002g0167	10	300	0.0333	25	c.238 others(42): Show c.2383-990_2383-989insAAAAAAAAAAAAAAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	25/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95365218	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	300	0.0033	25	c.195 others(44): Show c.1955+2431_1955+2432insCACACACACACACACACACACACAC	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	22/32			chr10	TogoVar
SORBS2_chr4_185580523_185817194	185709304	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG01891.hp2 HG02258.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0012 a0001c0007t0007 a0001c0006t0012 a0001c0007t0007	a0001c0006t0012g0286 a0001c0007t0007g0070 a0001c0006t0012g0286 a0001c0007t0007g0070	2	312	0.0064	25	c.-40 others(44): Show c.-40-18694_-40-18693insAAAAAAAAAAAAAAAAAAAAAAAAA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751172	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18955.hp1 NA19010.hp1 NA18952.hp1 NA18955.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0160 a0001c0001t0004g0162 a0001c0001t0005g0123 a0001c0001t0001g0160 a0001c0001t0004g0162 a0001c0001t0005g0123	3	312	0.0096	25	c.-96 others(44): Show c.-96-17019_-96-17018insTTTTTTTTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	312	0.0032	25	c.-96 others(44): Show c.-96-17037_-96-17036insCTTTTTTTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02258.hp1 HG02615.hp2 others(3): Show HG01433.hp2 HG02258.hp1 HG02615.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0001c0027	a0001c0001t0010 a0001c0002t0031 a0001c0006t0020 others(2): Show a0001c0001t0010 a0001c0002t0031 a0001c0006t0020 a0001c0013t0010 a0001c0027t0010	a0001c0001t0010g0106 a0001c0002t0031g0033 a0001c0006t0020g0094 others(3): Show a0001c0001t0010g0106 a0001c0002t0031g0033 a0001c0006t0020g0094 a0001c0013t0010g0305 a0001c0013t0010g0306 a0001c0027t0010g0045	6	312	0.0192	25	c.-96 others(44): Show c.-96-17037_-96-17036insCTCTTTTTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORCS1_chr10_106568663_107169706	106891504	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01433.hp1 HG02040.hp2 others(5): Show HG00558.hp1 HG01433.hp1 HG02040.hp2 HG02735.hp1 HG03710.hp1 HG06807.hp1 NA19043.hp1 NA19070.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0008c0016	a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0003t0001 a0008c0016t0002	a0001c0001t0002g0031 a0001c0001t0004g0015 a0001c0001t0004g0079 others(5): Show a0001c0001t0002g0031 a0001c0001t0004g0015 a0001c0001t0004g0079 a0001c0001t0004g0101 a0001c0002t0003g0026 a0001c0002t0003g0032 a0001c0003t0001g0119 a0008c0016t0002g0054	8	130	0.0615	25	c.627 others(44): Show c.627-61832_627-61831insAAAAAAAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106944874	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02280.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0003g0042 a0001c0001t0001g0006 a0001c0001t0003g0042	2	130	0.0154	25	c.626 others(44): Show c.626+11614_626+11638dupAAAAAAAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107034680	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0130 a0001c0004t0023g0130	1	130	0.0077	25	c.559 others(44): Show c.559-78125_559-78101dupTTTTTTTTTTTTTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	168	0.0060	25	c.481 others(44): Show c.481-22809_481-22808insATATATATATATATATATATTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0013 a0005c0008t0013	a0005c0008t0013g0155 a0005c0008t0013g0155	1	168	0.0060	25	c.481 others(44): Show c.481-22809_481-22808insATATATATATATATATATTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448870	C C	CTTTTCCC others(18): Show CTTTTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0030 a0013c0032t0030	a0013c0032t0030g0149 a0013c0032t0030g0149	1	168	0.0060	25	c.548 others(44): Show c.548+52515_548+52516insTTTTCCCTCCCTCCCTCCCTCCCTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7612893	T T	TGGGAGGG others(18): Show TGGGAGGGGAACAAGAAGAAGGTTGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0118 a0001c0006t0002g0118	1	168	0.0060	25	c.649 others(44): Show c.649-25414_649-25413insTTGGGGGAGGGGAACAAGAAGAAGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7650724	C C	CGCCCAGC others(18): Show CGCCCAGCCCAGCCCAGCCCAGCCCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0009 a0001c0016t0001g0009	1	168	0.0060	25	c.814 others(42): Show c.814-3381_814-3357dupCAGCCCAGCCCAGCCCAGCCCAGCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104696004	T T	TATATAAT others(18): Show TATATAATATATCATATACACATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01070.hp2 others(45): Show HG00140.hp2 HG00741.hp1 HG01070.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01981.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03688.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18941.hp2 NA18943.hp2 NA18970.hp2 NA18988.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19079.hp1 NA19090.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0011	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0015 a0003c0008 a0007c0021 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0015t0002 a0003c0008t0001 a0007c0021t0001 a0011c0017t0003	a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0098 others(45): Show a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0133 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0107 a0001c0001t0004g0112 a0001c0001t0010g0127 a0001c0002t0001g0035 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0105 a0001c0002t0002g0053 a0001c0002t0002g0108 a0001c0002t0003g0004 a0001c0002t0003g0070 a0001c0002t0003g0118 a0001c0002t0003g0120 a0001c0002t0003g0128 a0001c0002t0011g0020 a0001c0003t0001g0119 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0005t0001g0007 a0001c0005t0001g0092 a0001c0015t0002g0130 a0003c0008t0001g0005 a0007c0021t0001g0117 a0011c0017t0003g0088	48	134	0.3582	25	c.627 others(44): Show c.627+54055_627+54056insATATATCATATACACATATAATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0004 a0010c0016t0004	a0010c0016t0004g0059 a0010c0016t0004g0059	1	134	0.0075	25	c.627 others(44): Show c.627+93523_627+93524insTTTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104794622	G G	GGAGGAGA others(18): Show GGAGGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	134	0.0075	25	c.628 others(44): Show c.628-48167_628-48166insGAGAGAGAGAGAGAGAGAGAGAGAG	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105242807	T T	TTATATAT others(18): Show TTATATATATTTTTATATATAAATTA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0108	1	134	0.0075	25	c.286 others(44): Show c.2869-2678_2869-2654dupTATTTTTATATATAAATTATATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0221 a0002c0007t0001g0221	1	272	0.0037	25	c.205 others(44): Show c.2051+1992_2051+2016dupAAAAAAAAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01361.hp2 HG01884.hp2 others(13): Show HG00621.hp2 HG01361.hp2 HG01884.hp2 HG02572.hp2 HG02622.hp2 HG02886.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG03688.hp1 NA18973.hp1 NA18986.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0030 a0001c0001t0034	a0001c0001t0001g0070 a0001c0001t0001g0095 a0001c0001t0001g0097 others(13): Show a0001c0001t0001g0070 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0003g0023 a0001c0001t0003g0100 a0001c0001t0003g0129 a0001c0001t0003g0155 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0007g0133 a0001c0001t0017g0044 a0001c0001t0030g0124 a0001c0001t0034g0189	16	246	0.0650	25	c.865 others(42): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50135089	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0355 a0001c0005t0001g0355	1	382	0.0026	25	c.295 others(42): Show c.2959-851_2959-850insCTTTCTTTCTTTCTTTCTTTCTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	18/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp1 NA18612.hp1 others(3): Show HG01261.hp1 HG01496.hp1 NA18612.hp1 NA18952.hp1 NA18953.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0256 others(3): Show a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0256 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0003t0001g0349	6	382	0.0157	25	c.511 others(40): Show c.511-632_511-631insTTTTTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA19030.hp2 HG02572.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0000 a0001c0003t0003g0000	2	404	0.0050	25	c.-58 others(34): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	212	0.0047	25	c.116 others(44): Show c.1165-2304_1165-2280dupTTTTTTTTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0192 a0001c0001t0093g0192	1	212	0.0047	25	c.811 others(42): Show c.811-8773_811-8772insAAAAAAAAAAAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar

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