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.

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
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(34): Show GCCCCCCCTTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0269 a0002c0002t0003g0269	1	432	0.0023	41	c.127 others(58): Show c.1277-261_1277-260insCCCCCCTTCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO4A1_chr20_62637503_62677293	62666146	C C	CCCCTTCC others(34): Show CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02280.hp2 HG02572.hp2 others(1): Show HG02148.hp1 HG02280.hp2 HG02572.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0038 a0001c0001t0003g0308 a0001c0001t0017g0309 a0001c0001t0003g0038 a0001c0001t0003g0308 a0001c0001t0017g0309	4	432	0.0093	41	c.127 others(58): Show c.1277-224_1277-223insTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCTTCCCCT	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLK_chr10_103962140_104034233	103995503	T T	TGCAACCC others(34): Show TGCAACCCCCACCTCCTGGGTTCAAGGGATTCTTGTGCCTCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0017 a0001c0001t0024g0017	1	376	0.0027	41	c.514 others(58): Show c.514+2373_514+2413dupAACCCCCACCTCCTGGGTTCAAGGGATT CTTGTGCCTCAGC	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(34): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	310	0.0032	41	c.150 others(60): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258267	T T	TATAGATA others(34): Show TATAGATAGATAGATATAGATGATAGATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	398	0.0025	41	c.-37 others(52): Show c.-3725_-3724insCTATCTATCTATCTATCTATCATCTATATCTATC TATCTAT	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3704		chr20	TogoVar
SLPI_chr20_45247239_45259564	45258282	A A	ATAGATAG others(34): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	398	0.0025	41	c.-37 others(52): Show c.-3740_-3739insATCTATCTATCTATCTATCTATCTATCTATCTAT CTATCTA	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3719		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18947.hp1 NA19077.hp1 HG03710.hp1 NA18947.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0329 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0329	3	386	0.0078	41	c.299 others(60): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX9_chr21_44935029_44981973	44972945	C C	CGCCGTCA others(34): Show CGCCGTCACAGGACGGTCAGGCAGTTGCACTGCTTGTCCGGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	334	0.0030	41	c.501 others(56): Show c.501-250_501-249insCGTCACAGGACGGTCAGGCAGTTGCACTGC TTGTCCGGGGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44972945	C C	CGCGGTCA others(34): Show CGCGGTCACAGGACGGTCAGGCAGTTGCACTGCTTGTCCGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(62): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02897.hp2 HG03017.hp2 HG03098.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18952.hp1 NA18959.hp2 NA18964.hp2 NA18971.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp2 NA19000.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19066.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0006c0006t0001	a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0043 others(47): Show a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0203 a0002c0002t0001g0002 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0003c0003t0001g0016 a0003c0003t0001g0142 a0003c0003t0001g0181 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0004c0004t0001g0017 a0004c0004t0001g0042 a0004c0004t0001g0219 a0004c0004t0001g0220 a0004c0004t0001g0221 a0004c0004t0001g0222 a0004c0004t0001g0223 a0004c0004t0001g0224 a0004c0004t0001g0225 a0004c0004t0001g0227 a0006c0006t0001g0137	65	334	0.1946	41	c.501 others(56): Show c.501-213_501-173dupGGGGCGGTCACAGGACGGTCAGGCAGTTGC ACTGCTTGTCC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44972960	G G	GTCAGGCA others(34): Show GTCAGGCAGTTGCACTGCTTGTCCGGGGCGGTCACAGGACGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(203): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0005 a0003c0003 others(1): Show a0001c0001 a0001c0005 a0003c0003 a0005c0007	a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(139): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0005t0001g0001 a0001c0005t0001g0096 a0003c0003t0001g0029 a0003c0003t0001g0047 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0135 a0005c0007t0001g0101	206	334	0.6168	41	c.501 others(56): Show c.501-197_501-196insATCAGGCAGTTGCACTGCTTGTCCGGGGCG GTCACAGGACG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp1 HG00438.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0116 a0001c0001t0082 a0001c0001t0116	a0001c0001t0082g0296 a0001c0001t0116g0245 a0001c0001t0082g0296 a0001c0001t0116g0245	2	310	0.0065	41	c.237 others(60): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMG1_chr16_18799860_18931408	18827480	A A	ATTTGGTA others(34): Show ATTTGGTATAAATATACCTATATATATATATTTTTATATATC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	300	0.0033	41	c.974 others(58): Show c.9741+550_9741+551insGATATATAAAAATATATATATATAGGTA TATTTATACCAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	55/62			chr16	TogoVar
SMIM14_chr4_39541336_39643865	39619751	T T	TTATTCTA others(34): Show TTATTCTATATATCAATAAATATAATTATATATATCAATAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	344	0.0029	41	c.-35 others(60): Show c.-35-14572_-35-14571insTTTATTGATATATATAATTATATTTA TTGATATATAGAATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM36_chr17_55444856_55516452	55511746	G G	GGTCTGTT others(34): Show GGTCTGTTTATAAGCACTCATGATGACATGCTATGGATTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	340	0.0029	41	c.-41 others(50): Show c.-413_-412insGACAATCCATAGCATGTCATCATGAGTGCTTATAAA CAGAC	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding		295		chr17	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	406	0.0025	41	c.16 others(52): Show c.1695_*1696insTATATATATATATATATATATATATTTTTTTTTT TTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(34): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	41	c.16 others(52): Show c.1695_*1696insTATATATATATATATATATATATTTTTTTTTTTT TTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMOC2_chr6_168436184_168672992	168654473	T T	TACCTGAG others(34): Show TACCTGAGCTCCAACCAGATGTTAGGAACTCACCACCCCTGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	180	0.0056	41	c.128 others(60): Show c.1285+1261_1285+1262insGATGTTAGGAACTCACCACCCCTGCA CCTGAGCTCCAACCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168654514	T T	TACCTGAG others(34): Show TACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01346.hp1 others(8): Show HG00738.hp1 HG01261.hp2 HG01346.hp1 HG01952.hp2 HG02135.hp1 HG02293.hp2 HG04204.hp2 NA18951.hp1 NA18983.hp1 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 a0001c0001t0001 a0001c0001t0011 a0001c0002t0002	a0001c0001t0001g0092 a0001c0001t0001g0133 a0001c0001t0001g0134 others(8): Show a0001c0001t0001g0092 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0011g0119 a0001c0002t0002g0006 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0031	11	180	0.0611	41	c.128 others(60): Show c.1285+1998_1285+2038dupCAGATGTTAGGAACTCACCAACCCTG CACCTGAGCTCCAAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168654576	T T	TTAGGAAC others(34): Show TTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	180	0.0056	41	c.128 others(60): Show c.1285+1388_1285+1389insGTAGGAACTCACCAACCCTGCACCTG AGCTCCAACCAGATG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168655262	C C	CCAACCAG others(34): Show CCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0012 a0003c0006t0012	a0003c0006t0012g0018 a0003c0006t0012g0018	1	180	0.0056	41	c.128 others(60): Show c.1285+2038_1285+2039insCAGATGTTAGGAACTCACCAACCCTG CACCTGAGCTGCAAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMR3B_chr4_70378131_70395244	70385639	C C	CGTGATCC others(34): Show CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19056.hp2 HG03834.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	2	462	0.0043	41	c.54+ others(56): Show c.54+1085_54+1086insCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGTGATCCGCC	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNED1_chr2_240993618_241100568	241052693	G G	GCCAAGCA others(34): Show GCCAAGCAGGGTATATGGGATACCAGTGCCAGGCAGGTGAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0075 a0002c0075	a0002c0075t0045 a0002c0075t0045	a0002c0075t0045g0251 a0002c0075t0045g0251	1	344	0.0029	41	c.208 others(58): Show c.2083+225_2083+226insCCAAGCAGGGTATATGGGATACCAGTGC CAGGCAGGTGAGA	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31			chr2	TogoVar
SNTG1_chr8_49906407_50801692	50660426	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02723.hp2 HG02809.hp2 HG01071.hp2 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0032 a0001c0001t0048 a0001c0001t0013 a0001c0001t0032 a0001c0001t0048	a0001c0001t0013g0068 a0001c0001t0032g0052 a0001c0001t0048g0105 a0001c0001t0013g0068 a0001c0001t0032g0052 a0001c0001t0048g0105	3	106	0.0283	41	c.103 others(60): Show c.1038+1765_1038+1766insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1031528	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	190	0.0053	41	c.73- others(58): Show c.73-51989_73-51988insATATATATATATATATATATATATATAT ATTTTTTTTTTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1051157	T T	TCCCCCTT others(34): Show TCCCCCTTTCTTCCTCCCTCCCCCCCCTTTCTTCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	190	0.0053	41	c.73- others(58): Show c.73-32340_73-32339insCCCCCTTTCTTCCTCCCTCCCCCCCTTT CTTCCTCCCTCCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1051157	T T	TCCCCCTT others(34): Show TCCCCCTTTCTTCCTCCCTCCCCCCCTTTCTTCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0166 a0010c0012t0001g0166	1	190	0.0053	41	c.73- others(58): Show c.73-32340_73-32339insCCCCTTTCTTCCTCCCTCCCCCCCCTTT CTTCCTCCCTCCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221697	T T	TCTCTGTC others(34): Show TCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTGTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	190	0.0053	41	c.719 others(60): Show c.719+12467_719+12468insCTCTGTCTCTCTCTGTCTCTCTCTGT CTCTGTCTCTGTTTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX10_chr7_26286862_26379383	26325328	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	390	0.0026	41	c.-23 others(60): Show c.-23-21092_-23-21091insATATATATATATATATATATATATAT ATATATATATATATA	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/6			chr7	TogoVar
SNX29_chr16_11971734_12579287	12117132	T T	TCAATACG others(34): Show TCAATACGTGCTTCAGTGCGGACGAACCATGGAAACAGGCAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20129.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0022 a0001c0004 a0001c0022	a0001c0004t0021 a0001c0022t0049 a0001c0004t0021 a0001c0022t0049	a0001c0004t0021g0080 a0001c0022t0049g0061 a0001c0004t0021g0080 a0001c0022t0049g0061	2	176	0.0114	41	c.140 others(60): Show c.1403-9501_1403-9500insCAATACGTGCTTCAGTGCGGACGAAC CATGGAAACAGGCAC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	11/20			chr16	TogoVar
SNX6_chr14_34556093_34635148	34596303	T T	TGGGGGGG others(34): Show TGGGGGGGGGGGGGGGGTGGGGGGGGGGAGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	322	0.0031	41	c.612 others(58): Show c.612+1246_612+1247insCCCCCCCCCCCCCTCCCCCCCCCCACCC CCCCCCCCCCCCC	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding	7/13			chr14	TogoVar
SNX7_chr1_98656721_98765500	98763439	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	378	0.0027	41	c.33 others(52): Show c.3308_*3309insTATATATATATATATATATATATATATATATATA TATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2940		chr1	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(34): Show GTTTTTTTGTTTTTTTTTTTTTTTTTGTTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18990.hp2 HG00621.hp1 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0013 a0002c0002t0002g0015	2	302	0.0066	41	c.12+ others(58): Show c.12+21148_12+21149insGTTTTTTTTTTTTTTTTTGTTGTTTTTT TTTTTTTTTTTTT	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(34): Show GTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0025	1	302	0.0033	41	c.12+ others(58): Show c.12+21148_12+21149insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS7_chr17_38346844_38410593	38393807	G G	GGAGAATG others(34): Show GGAGAATGGCATGAACCCGGGAGGCAGAGCTTGTAGTGAGCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	289	0.0035	41	c.168 others(60): Show c.1682-1497_1682-1457dupATGGCATGAACCCGGGAGGCAGAGCT TGTAGTGAGCCGAGA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0110 a0002c0004t0014g0110	1	168	0.0060	41	c.481 others(60): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATATTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104696306	G G	GATATATA others(34): Show GATATATATCATATATAATATATGATATATATCATATATAAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03471.hp1 HG02965.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0011 a0001c0002t0001g0075 a0001c0001t0002g0011 a0001c0002t0001g0075	2	134	0.0149	41	c.627 others(60): Show c.627+54358_627+54359insATCATATATAATATATGATATATATC ATATATAATATATAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX11_chr2_5687384_5706385	5706367	G G	GCTTTTCT others(34): Show GCTTTTCTTCATTTTATTATTCTCCTTTATATTTATTCTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0000 a0001c0001t0150g0000	1	434	0.0023	41	c.12 others(54): Show c.12320_*12321insCTTTTCTTCATTTTATTATTCTCCTTTATATT TATTCTTAT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4983		chr2	TogoVar
SOX18_chr20_64042582_64054639	64042812	G G	GGGGGTCG others(34): Show GGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00738.hp1 others(36): Show HG00140.hp1 HG00642.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01928.hp1 HG01943.hp1 HG02129.hp1 HG02486.hp1 HG02602.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp2 HG03041.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18943.hp2 NA18950.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0004g0011	39	352	0.1108	41	c.53 others(52): Show c.5353_*5354insGCCCCGTCCCCCACGACCCCCGTCCCGTCCCCCA CGACCCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4769		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042833	G G	GGGGGTCG others(34): Show GGGGGTCGTGGGGGACGGGGCGGGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02109.hp2 others(9): Show HG01109.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02818.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0002 a0001c0001t0001g0006	12	352	0.0341	41	c.53 others(52): Show c.5332_*5333insGCCCCGTCCCCCACGACCCCCGCCCCGTCCCCCA CGACCCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4748		chr20	TogoVar
SPACA5_chrX_48001988_48014733	48013051	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02015.hp1 HG02257.hp2 HG00597.hp2 HG02015.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	292	0.0103	41	c.34 others(52): Show c.3406_*3407insCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC TTCCTTC	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3319		chrX	TogoVar
SPACA6_chr19_51688330_51710190	51704873	G G	GTCCAGGC others(34): Show GTCCAGGCCCCAGCCCTCTCCTCCCTCAGACCCAGGTTTCCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	416	0.0024	41	c.942 others(56): Show c.942-207_942-206insAGCCCTCTCCTCCCTCAGACCCAGGTTTCC ATCCAGGCCCC	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	41	c.-18 others(52): Show c.-1805_-1804insATATATATATATATATATATATATATATATTTTT TTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG00735.hp1 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	330	0.0061	41	c.-18 others(52): Show c.-1805_-1804insATATATATATATATATATATATATATATATATAT TTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAATAT others(34): Show AAAAATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	330	0.0030	41	c.-18 others(52): Show c.-1805_-1804insATATATATATATATATATATATATATATATATAT ATATTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600765	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	41	c.-18 others(52): Show c.-1820_-1819insAAATATATATATATATATATATATATATATATAT ATATATA	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1741		chr17	TogoVar
SPDYE10_chr7_73099008_73160431	73105812	G G	GTGTCACT others(34): Show GTGTCACTTCAGATCTAAACTTGTAACCGTGCTAGATCTGTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0004 a0001c0005t0001g0004	1	216	0.0046	41	c.46 others(56): Show c.46-367_*46-327dupAACAGATCTAGCACGGTTACAAGTTTAGAT CTGAAGTGACA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	8/8			chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547829	A A	AGAGAAAG others(34): Show AGAGAAAGGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0045 a0001c0001t0021g0045	1	164	0.0061	41	c.-38 others(52): Show c.-3881_-3880insGAGAAAGGAAAGAAAGAAAGAAAAGAAAGAAAGA AAGAAAG	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3396		chr7	TogoVar
SPICE1_chr3_113437718_113520156	113480931	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01167.hp1 others(21): Show HG00639.hp2 HG00741.hp2 HG01167.hp1 HG01175.hp2 HG01515.hp2 HG02074.hp1 HG02165.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02896.hp1 HG02965.hp2 HG03139.hp1 HG03490.hp2 HG03834.hp2 NA18955.hp1 NA18988.hp1 NA19005.hp1 NA19007.hp2 NA19056.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0002 a0005c0009 a0006c0013 a0001c0002 a0005c0009 a0006c0013	a0001c0002t0003 a0001c0002t0007 a0001c0002t0014 others(2): Show a0001c0002t0003 a0001c0002t0007 a0001c0002t0014 a0005c0009t0013 a0006c0013t0018	a0001c0002t0003g0247 a0001c0002t0003g0267 a0001c0002t0003g0270 others(21): Show a0001c0002t0003g0247 a0001c0002t0003g0267 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0279 a0001c0002t0003g0281 a0001c0002t0003g0283 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0003g0298 a0001c0002t0003g0305 a0001c0002t0003g0308 a0001c0002t0007g0256 a0001c0002t0007g0257 a0001c0002t0007g0258 a0001c0002t0007g0261 a0001c0002t0007g0265 a0001c0002t0007g0317 a0001c0002t0014g0282 a0005c0009t0013g0242 a0006c0013t0018g0313	24	364	0.0659	41	c.611 others(58): Show c.611+8013_611+8014insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTC	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPINK13_chr5_148263794_148291255	148268759	T T	TACAGACT others(34): Show TACAGACTCCTGGAACAGCAGCTCTTCTCAAGGCTAGTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(124): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18990.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(58): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0003g0017 a0001c0001t0003g0024 a0001c0001t0003g0057 a0001c0001t0003g0105 a0001c0001t0003g0135 a0002c0002t0001g0113	127	376	0.3378	41	c.-16 others(50): Show c.-163_-162insACAGACTCCTGGAACAGCAGCTCTTCTCAAGGCTAG TTGTG	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		34		chr5	TogoVar
SPINK6_chr5_148198042_148220137	148212704	C C	CAATATAT others(34): Show CAATATATAGTTTATATATTTTATATAAACTATATATTTATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp2 HG01884.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0120 a0002c0002t0001g0071 a0002c0002t0001g0120	2	438	0.0046	41	c.82- others(56): Show c.82-1205_82-1165dupAATATATAGTTTATATATTTTATATAAACT ATATATTTATA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 2600 hits)