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
SMIM10_chrX_134985991_134997473	134986682	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	322	0.0031	-40	c.-44 others(51): Show c.-4413_-4374delCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTCCTT CCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4308		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986686	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTTTTCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	322	0.0031	-40	c.-44 others(51): Show c.-4409_-4370delCTTTCTTTCTTTCTTTCTTTTTTCTTCCTTCCTT CCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4304		chrX	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(33): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00639.hp1 others(11): Show HG00423.hp1 HG00597.hp2 HG00639.hp1 HG01109.hp1 HG01361.hp2 HG02698.hp1 HG02809.hp1 NA18941.hp2 NA18957.hp2 NA18961.hp2 NA18984.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0032 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0084 a0001c0001t0002g0002 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0004g0049	14	380	0.0368	-40	c.17 others(51): Show c.1746_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMTNL2_chr17_4579529_4613319	4596085	CCTGCTGT others(33): Show CCTGCTGTGTGCAGGGTGTGGCCCAAGCGTGGTATTGATGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp2 NA19240.hp2 others(1): Show HG02717.hp2 HG02970.hp2 NA19240.hp2 NA20300.hp1	a0003 a0009 a0003 a0009	a0003c0009 a0003c0016 a0009c0022 a0003c0009 a0003c0016 a0009c0022	a0003c0009t0001 a0003c0016t0001 a0009c0022t0008 a0003c0009t0001 a0003c0016t0001 a0009c0022t0008	a0003c0009t0001g0258 a0003c0016t0001g0152 a0003c0016t0001g0164 others(1): Show a0003c0009t0001g0258 a0003c0016t0001g0152 a0003c0016t0001g0164 a0009c0022t0008g0237	4	442	0.0091	-40	c.990 others(55): Show c.990-735_990-696delTCTGCTGTGTGCAGGGTGTGGCCCAAGCGT GGTATTGATG	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMTNL2_chr17_4579529_4613319	4596179	GGTGTGGC others(33): Show GGTGTGGCCCAAGCGTGGTATTGATGCCTGCTGTGTGCAGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02055.hp2 others(19): Show HG01243.hp1 HG01891.hp2 HG02055.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02717.hp1 HG02723.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA19030.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0003 a0001c0005 a0001c0006 others(4): Show a0001c0003 a0001c0005 a0001c0006 a0001c0017 a0001c0020 a0003c0009 a0006c0030	a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 others(7): Show a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 a0001c0006t0001 a0001c0006t0003 a0001c0017t0009 a0001c0017t0010 a0001c0020t0013 a0003c0009t0001 a0006c0030t0001	a0001c0003t0001g0245 a0001c0003t0004g0238 a0001c0003t0004g0243 others(19): Show a0001c0003t0001g0245 a0001c0003t0004g0238 a0001c0003t0004g0243 a0001c0005t0001g0155 a0001c0006t0001g0036 a0001c0006t0001g0037 a0001c0006t0001g0138 a0001c0006t0003g0036 a0001c0006t0003g0037 a0001c0006t0003g0173 a0001c0006t0003g0174 a0001c0006t0003g0175 a0001c0006t0003g0176 a0001c0006t0003g0177 a0001c0006t0003g0225 a0001c0006t0003g0226 a0001c0006t0003g0227 a0001c0017t0009g0241 a0001c0017t0010g0182 a0001c0020t0013g0183 a0003c0009t0001g0135 a0006c0030t0001g0154	22	442	0.0498	-40	c.990 others(55): Show c.990-641_990-602delAGTGTGGCCCAAGCGTGGTATTGATGCCTG CTGTGTGCAG	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0046 a0001c0001t0030g0046	1	264	0.0038	-40	c.56- others(55): Show c.56-1444_56-1405delTATATATATATATATATATATATATATATA TATATATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063266	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03017.hp2 HG01346.hp1 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0086 a0001c0002t0005g0129 a0001c0002t0001g0086 a0001c0002t0005g0129	2	264	0.0076	-40	c.56- others(55): Show c.56-1469_56-1430delTTATATATATATATATATATATATATATAT ATATATATAT	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF2_chr17_64537282_64667307	64613672	CAGTGTGT others(33): Show CAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0001 a0001c0001t0025g0001	1	174	0.0058	-40	c.53- others(55): Show c.53-7072_53-7033delCACACACACACACACACACACACACACACA CACACACACT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18			chr17	TogoVar
SMYD1_chr2_88062825_88118384	88065222	CCCCCTCC others(33): Show CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(15): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00733.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01993.hp1 HG02258.hp2 HG02293.hp1 HG02486.hp2 HG02886.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0011	a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 others(3): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0005t0002 a0001c0005t0014 a0001c0011t0002	a0001c0001t0003g0179 a0001c0003t0002g0069 a0001c0003t0002g0175 others(15): Show a0001c0001t0003g0179 a0001c0003t0002g0069 a0001c0003t0002g0175 a0001c0003t0003g0007 a0001c0003t0003g0066 a0001c0003t0003g0076 a0001c0003t0003g0176 a0001c0003t0003g0178 a0001c0005t0002g0064 a0001c0005t0002g0065 a0001c0005t0002g0070 a0001c0005t0002g0072 a0001c0005t0014g0071 a0001c0011t0002g0021 a0001c0011t0002g0253 a0001c0011t0002g0254 a0001c0011t0002g0255 a0001c0011t0002g0256	18	338	0.0533	-40	c.-26 others(51): Show c.-2642_-2603delCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2602		chr2	TogoVar
SMYD3_chr1_245744347_246512279	245993603	TAGATAGA others(33): Show TAGATAGATAGATAGATAGATAGATAGATAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00621.hp1 others(21): Show HG00408.hp2 HG00544.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01433.hp2 HG01496.hp1 HG01975.hp1 HG02004.hp1 HG02015.hp1 HG02145.hp2 HG02273.hp1 HG02300.hp2 HG02886.hp2 HG03017.hp2 HG03195.hp1 HG03491.hp1 HG03831.hp2 NA18747.hp1 NA19000.hp2 NA19030.hp2 NA19057.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0016 a0003c0010 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0016t0001 a0003c0010t0001 a0005c0015t0002	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0036 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0002g0014 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0068 a0001c0002t0001g0062 a0001c0002t0002g0084 a0001c0006t0001g0025 a0002c0003t0001g0108 a0002c0003t0002g0145 a0002c0004t0001g0126 a0002c0016t0001g0097 a0003c0010t0001g0031 a0005c0015t0002g0094	24	150	0.1600	-40	c.532 others(59): Show c.532-63706_532-63667delGTCTGTCTGTCTATCTATCTATCTAT CTATCTATCTATCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNRK_chr3_43281540_43356143	43339818	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG01070.hp1 others(27): Show HG00544.hp1 HG00642.hp2 HG01070.hp1 HG01081.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01978.hp1 HG02055.hp2 HG02148.hp2 HG02273.hp1 HG02683.hp2 HG03490.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 NA18948.hp2 NA18954.hp2 NA18963.hp2 NA18967.hp1 NA18982.hp2 NA18985.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19062.hp2 NA19068.hp2 NA19087.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0019 a0001c0006t0001 a0001c0001t0001 a0001c0001t0019 a0001c0006t0001	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 others(27): Show a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0019g0174 a0001c0006t0001g0170	30	258	0.1163	-40	c.732 others(55): Show c.732-452_732-413delATATATATATATATATATATATATATATAT ATATATATAT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNTG1_chr8_49906407_50801692	50259508	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0085 a0001c0001t0009g0085	1	106	0.0094	-40	c.-28 others(59): Show c.-28+86899_-28+86938delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNX16_chr8_81794583_81847185	81842521	AGAGAAAG others(33): Show AGAGAAAGAGAAAGAAAACGAGCGAGGGAGAGAGCGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG03490.hp2 NA19084.hp2 others(1): Show HG02602.hp2 HG03490.hp2 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003	a0001c0001t0002g0150 a0001c0001t0004g0027 a0001c0002t0003g0011 others(1): Show a0001c0001t0002g0150 a0001c0001t0004g0027 a0001c0002t0003g0011 a0001c0002t0003g0013	4	306	0.0131	-40	c.-53 others(49): Show c.-536_-497delGCTCTCGCTCTCTCCCTCGCTCGTTTTCTTTCTCTT TCTC	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		337		chr8	TogoVar
SNX24_chr5_122840613_123014205	122913467	GGGTGGCT others(33): Show GGGTGGCTGCCTGGCGTAGACGCTCCTCACTTCCCAGACGT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	330	0.0030	-40	c.61- others(57): Show c.61-23251_61-23212delTAGACGCTCCTCACTTCCCAGACGTGGT GGCTGCCTGGCG	SNX24	ENSG00000064652.11	transcript	ENST00000261369.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX29_chr16_11971734_12579287	12393381	GATTCATT others(33): Show GATTCATTCATTCATGCATGCATGCATGCATGCATTCATTC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp2 others(12): Show HG01069.hp1 HG01071.hp2 HG01175.hp2 HG01358.hp1 HG02015.hp1 HG02895.hp1 HG02897.hp2 HG03704.hp2 HG03710.hp2 NA18969.hp1 NA18979.hp2 NA19060.hp1 NA19065.hp1 NA19070.hp2 NA19085.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0002c0005 a0005c0011	a0001c0001t0001 a0001c0001t0014 a0001c0001t0059 others(10): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0059 a0001c0001t0110 a0001c0002t0003 a0001c0002t0005 a0001c0002t0065 a0001c0003t0004 a0001c0003t0043 a0001c0015t0003 a0002c0005t0044 a0002c0005t0051 a0005c0011t0009	a0001c0001t0001g0163 a0001c0001t0014g0099 a0001c0001t0059g0040 others(12): Show a0001c0001t0001g0163 a0001c0001t0014g0099 a0001c0001t0059g0040 a0001c0001t0110g0162 a0001c0002t0003g0152 a0001c0002t0003g0160 a0001c0002t0005g0002 a0001c0002t0065g0136 a0001c0003t0004g0092 a0001c0003t0004g0094 a0001c0003t0043g0074 a0001c0015t0003g0166 a0002c0005t0044g0071 a0002c0005t0051g0091 a0005c0011t0009g0116	15	176	0.0852	-40	c.190 others(59): Show c.1900-5051_1900-5012delTGCATGCATGCATGCATGCATTCATT CATTCATTCATTCA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12476381	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATACATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19240.hp2 HG02622.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0012 a0001c0006t0068 a0001c0001t0012 a0001c0006t0068	a0001c0001t0012g0009 a0001c0006t0068g0003 a0001c0001t0012g0009 a0001c0006t0068g0003	2	176	0.0114	-40	c.203 others(59): Show c.2038-1336_2038-1297delAATATATATATATATATATATATATA TATACATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX9_chr6_157818246_157950077	157827463	AAACTTAT others(33): Show AAACTTATAGTTTATATAATATATAAACTTATAGTTTATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0062 a0001c0001t0019g0062	1	302	0.0033	-40	c.12+ others(55): Show c.12+4020_12+4059delCTTATAGTTTATATAATATATAAACTTATA GTTTATATAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157844400	TGGGTGGG others(33): Show TGGGTGGGGGCCACAAGATCAGATGCCCAGTTTATTGATCG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01884.hp1 others(11): Show HG01256.hp1 HG01258.hp1 HG01884.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG03195.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0021 a0001c0003t0005 a0001c0003t0022	a0001c0001t0003g0250 a0001c0001t0003g0257 a0001c0001t0003g0277 others(11): Show a0001c0001t0003g0250 a0001c0001t0003g0257 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0296 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0013g0298 a0001c0001t0021g0291 a0001c0003t0005g0290 a0001c0003t0022g0292	14	302	0.0464	-40	c.12+ others(57): Show c.12+20961_12+21000delGGGCCACAAGATCAGATGCCCAGTTTAT TGATCGGGGTGG	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOBP_chr6_107485117_107666306	107656331	GAAAGAAA others(33): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGTA	G G	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	296	0.0034	-40	c.4- others(55): Show c.4-1874_*4-1835delAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA AAGAAAGTAA	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOGA1_chr20_36772447_36868538	36792857	TAGACAGA others(33): Show TAGACAGACAGACAGACAGACAGACAGACAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0059 a0001c0002t0027g0059	1	282	0.0036	-40	c.483 others(57): Show c.4833+352_4833+391delGTCTGTCTGTCTGTCTGTCTGTCTGTCT GTCTGTCTGTCT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	14/14			chr20	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02109.hp1 HG02896.hp2 others(2): Show HG01433.hp1 HG02109.hp1 HG02896.hp2 HG03654.hp2 NA20129.hp2	a0001 a0028 a0001 a0028	a0001c0001 a0028c0054 a0001c0001 a0028c0054	a0001c0001t0001 a0028c0054t0001 a0001c0001t0001 a0028c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0055 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0055 a0001c0001t0001g0090 a0028c0054t0001g0028	5	364	0.0137	-40	c.11 others(51): Show c.1181_*1220delACACACACACACACACACACACACACACACACAC ACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORCS2_chr4_7187538_7747827	7449279	CTCCCTTC others(33): Show CTCCCTTCCTCCCTCCCTTCCTCCCCTTTCTTCCCTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp2 HG02717.hp1 others(1): Show HG01891.hp2 HG02572.hp2 HG02717.hp1 HG02922.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0016 a0004c0007 a0005c0008 a0001c0016 a0004c0007 a0005c0008	a0001c0016t0013 a0004c0007t0001 a0005c0008t0001 a0001c0016t0013 a0004c0007t0001 a0005c0008t0001	a0001c0016t0013g0039 a0004c0007t0001g0026 a0005c0008t0001g0006 others(1): Show a0001c0016t0013g0039 a0004c0007t0001g0026 a0005c0008t0001g0006 a0005c0008t0001g0029	4	168	0.0238	-40	c.548 others(59): Show c.548+52925_548+52964delTCCCTTCCTCCCTCCCTTCCTCCCCT TTCTTCCCTTCTCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7481966	CGCTGTTC others(33): Show CGCTGTTCAGACCTGTATCCCCACTGCGGACACCCCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0011 a0001c0001t0018g0011	1	168	0.0060	-40	c.549 others(59): Show c.549-49526_549-49487delGCTGCTGTTCAGACCTGTATCCCCAC TGCGGACACCCCTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7482816	TGCGGACA others(33): Show TGCGGACACCCCTGGCTGCTGTTCAGACCTGTATCCCCGCC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0039 a0006c0022t0039	a0006c0022t0039g0153 a0006c0022t0039g0153	1	168	0.0060	-40	c.549 others(59): Show c.549-48692_549-48653delTCAGACCTGTATCCCCGCCGCGGACA CCCCTGGCTGCTGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7525722	GTCACCTG others(33): Show GTCACCTGTCCCCTCCTGCAGTCACCTGTGCCCTCCTGCAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01243.hp2 others(33): Show HG00639.hp1 HG01106.hp2 HG01243.hp2 HG01258.hp2 HG02056.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03492.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18962.hp1 NA19000.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0016	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0014 a0001c0036 a0001c0041 a0001c0048 a0002c0004 a0002c0050 a0003c0012 a0003c0013 a0003c0042 a0004c0007 a0004c0043 a0004c0044 a0005c0045 a0009c0025 a0010c0040 a0016c0019	a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 others(33): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0072 a0001c0002t0005 a0001c0002t0054 a0001c0002t0065 a0001c0003t0002 a0001c0003t0009 a0001c0003t0015 a0001c0003t0022 a0001c0003t0052 a0001c0003t0064 a0001c0005t0001 a0001c0005t0007 a0001c0005t0019 a0001c0005t0023 a0001c0011t0017 a0001c0014t0019 a0001c0014t0034 a0001c0036t0044 a0001c0041t0013 a0001c0048t0001 a0002c0004t0002 a0002c0050t0045 a0003c0012t0036 a0003c0013t0021 a0003c0013t0033 a0003c0042t0003 a0004c0007t0015 a0004c0043t0037 a0004c0044t0046 a0005c0045t0001 a0009c0025t0031 a0010c0040t0004 a0016c0019t0018	a0001c0001t0004g0097 a0001c0001t0008g0142 a0001c0001t0010g0129 others(33): Show a0001c0001t0004g0097 a0001c0001t0008g0142 a0001c0001t0010g0129 a0001c0001t0072g0161 a0001c0002t0005g0069 a0001c0002t0054g0050 a0001c0002t0065g0004 a0001c0003t0002g0073 a0001c0003t0009g0086 a0001c0003t0015g0034 a0001c0003t0022g0043 a0001c0003t0052g0147 a0001c0003t0064g0005 a0001c0005t0001g0156 a0001c0005t0007g0154 a0001c0005t0019g0104 a0001c0005t0023g0032 a0001c0011t0017g0120 a0001c0014t0019g0139 a0001c0014t0034g0040 a0001c0036t0044g0022 a0001c0041t0013g0031 a0001c0048t0001g0146 a0002c0004t0002g0127 a0002c0050t0045g0132 a0003c0012t0036g0010 a0003c0013t0021g0100 a0003c0013t0033g0041 a0003c0042t0003g0066 a0004c0007t0015g0166 a0004c0043t0037g0058 a0004c0044t0046g0016 a0005c0045t0001g0148 a0009c0025t0031g0025 a0010c0040t0004g0024 a0016c0019t0018g0027	36	168	0.2143	-40	c.549 others(57): Show c.549-5779_549-5740delGCCCTCCTGCAATCACCTGTCCCCTCCT GCAGTCACCTGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX6_chr11_15961449_16361546	16132262	AGAAAGAA others(33): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	218	0.0046	-40	c.778 others(59): Show c.778-20379_778-20340delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX7_chr8_10718768_10735511	10719104	AGCAACCT others(33): Show AGCAACCTGCGGATGCTGCCAGCAGCATGGGCGCATGCACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0124 a0001c0002t0030g0124	1	462	0.0022	-40	c.65 others(51): Show c.6594_*6633delGGTGCATGCGCCCATGCTGCTGGCAGCATCCGCA GGTTGC	SOX7	ENSG00000171056.8	transcript	ENST00000304501.2	protein_coding		4663		chr8	TogoVar
SP100_chr2_230411201_230550606	230497524	GAGGAGAG others(33): Show GAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	290	0.0035	-40	c.164 others(57): Show c.1646-932_1646-893delGAGGAGAGGAGAGGAGAGGAAAGGAAAG GAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497529	GAGGAGAG others(33): Show GAGGAGAGGAGAGGAGAGGAAAGGAAAGGAAAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01192.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0108 a0001c0003t0002g0277 a0001c0003t0002g0282 a0001c0003t0002g0108 a0001c0003t0002g0277 a0001c0003t0002g0282	3	290	0.0103	-40	c.164 others(57): Show c.1646-927_1646-888delGAGGAGAGGAGAGGAAAGGAAAGGAAAG GAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(43): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01168.hp2 HG01256.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01981.hp2 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp2 HG02735.hp1 HG03239.hp1 HG03669.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18957.hp1 NA18973.hp2 NA19002.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19067.hp2 NA19079.hp2 NA19080.hp1 NA19087.hp1 NA19087.hp2 NA20129.hp2 NA20752.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0011	a0001c0001 a0001c0003 a0003c0004 others(2): Show a0001c0001 a0001c0003 a0003c0004 a0005c0008 a0011c0011	a0001c0001t0003 a0001c0001t0005 a0001c0003t0003 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0003t0003 a0003c0004t0003 a0005c0008t0003 a0011c0011t0003	a0001c0001t0003g0055 a0001c0001t0003g0069 a0001c0001t0003g0072 others(43): Show a0001c0001t0003g0055 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0003g0084 a0001c0001t0003g0093 a0001c0001t0003g0199 a0001c0001t0005g0155 a0001c0003t0003g0021 a0001c0003t0003g0062 a0001c0003t0003g0109 a0001c0003t0003g0138 a0001c0003t0003g0182 a0001c0003t0003g0184 a0001c0003t0003g0197 a0001c0003t0003g0202 a0001c0003t0003g0213 a0001c0003t0003g0226 a0001c0003t0003g0274 a0003c0004t0003g0015 a0003c0004t0003g0060 a0003c0004t0003g0061 a0003c0004t0003g0080 a0003c0004t0003g0102 a0003c0004t0003g0111 a0003c0004t0003g0113 a0003c0004t0003g0132 a0003c0004t0003g0136 a0003c0004t0003g0141 a0003c0004t0003g0145 a0003c0004t0003g0161 a0003c0004t0003g0164 a0003c0004t0003g0188 a0003c0004t0003g0208 a0003c0004t0003g0218 a0003c0004t0003g0238 a0003c0004t0003g0240 a0003c0004t0003g0254 a0003c0004t0003g0262 a0003c0004t0003g0264 a0003c0004t0003g0265 a0003c0004t0003g0266 a0003c0004t0003g0272 a0005c0008t0003g0002 a0011c0011t0003g0085	46	290	0.1586	-40	c.205 others(57): Show c.2053-632_2053-593delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA5B_chrX_48125626_48137620	48127865	AATCGCTT others(33): Show AATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	-40	c.-28 others(51): Show c.-2822_-2783delATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGA GCCAAG	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2760		chrX	TogoVar
SPAG16_chr2_213279464_214415501	213643346	TTTTATAT others(33): Show TTTTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0019 a0003c0003t0003g0019	1	86	0.0116	-40	c.107 others(63): Show c.1070+153258_1070+153297delTTATATATATATATATATATAT ATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213643348	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	86	0.0116	-40	c.107 others(63): Show c.1070+153282_1070+153321delATATATATATATATATATATAT ATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100214988	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0229 a0002c0005t0001g0229	1	366	0.0027	-40	c.153 others(59): Show c.1535+1093_1535+1132delATATATATATATATATATATATATAT ATATATATATATAT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG9_chr17_50957174_51125868	51077057	GCTATCTA others(33): Show GCTATCTAGCTAGCTATCTAGCTATCTAGCTAGCTATCTAT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02622.hp1 others(1): Show HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0029 others(1): Show a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0029 a0001c0001t0003g0040	4	292	0.0137	-40	c.424 others(57): Show c.424+2487_424+2526delATAGATAGCTAGCTAGATAGCTAGATAG CTAGCTAGATAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPATA22_chr17_3435019_3476819	3464746	ACCGCCCC others(33): Show ACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(111): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02273.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18960.hp2 NA18963.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19055.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0002c0002 a0002c0005 others(4): Show a0001c0001 a0002c0002 a0002c0005 a0002c0006 a0002c0008 a0005c0012 a0009c0013	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0006t0001 a0002c0008t0001 a0005c0012t0002 a0009c0013t0001	a0001c0001t0001g0233 a0001c0001t0001g0245 a0002c0002t0001g0001 others(71): Show a0001c0001t0001g0233 a0001c0001t0001g0245 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0056 a0002c0002t0001g0085 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0248 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0265 a0002c0002t0001g0270 a0002c0002t0002g0049 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0005t0001g0048 a0002c0005t0001g0266 a0002c0005t0001g0267 a0002c0005t0001g0269 a0002c0006t0001g0246 a0002c0006t0001g0249 a0002c0006t0001g0250 a0002c0006t0001g0262 a0002c0006t0001g0264 a0002c0008t0001g0268 a0005c0012t0002g0281 a0009c0013t0001g0253	114	420	0.2714	-40	c.173 others(57): Show c.173-2019_173-1980delCTGCCGGGCGGAGGGGCTCCTCACTTCT CAGACGGGGCGG	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	3/8			chr17	TogoVar
SPATA31A1_chr9_39350669_39366962	39356543	CATTTTAT others(33): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0074 a0001c0003t0005g0074	1	424	0.0024	-40	c.190 others(55): Show c.190-563_190-524delATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTT	SPATA31A1	ENSG00000204849.10	transcript	ENST00000377647.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA5_chr4_122918078_123324433	123016540	CGCTCCTC others(33): Show CGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGTAGAGGT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0260 a0001c0001t0075g0260	1	262	0.0038	-40	c.187 others(61): Show c.1870-11612_1870-11573delTAGAGGTGCTCCTCACTTCCTAGA TGGGATGGCGGCCGGG	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6_chr1_48290373_48477204	48383796	GCGCTCCT others(33): Show GCGCTCCTCGCTTCCCAGATGGGATGGCGGCCAGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	322	0.0031	-40	c.909 others(57): Show c.909+1473_909+1512delTCTCTGCCTGGCCGCCATCCCATCTGGG AAGCGAGGAGCG	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPDYA_chr2_28805834_28855610	28819829	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	338	0.0030	-40	c.294 others(55): Show c.294+725_294+764delAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73156132	ACACACAC others(33): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18971.hp1 NA19084.hp2 others(1): Show NA18747.hp2 NA18971.hp1 NA19084.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0092 others(1): Show a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0092 a0001c0002t0001g0098	4	216	0.0185	-40	c.-14 others(51): Show c.-1489_-1450delAGAGACAGACAGAGAGAGAGAGAGAGAGAGAGAG TGTGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		702		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156134	ACACACTC others(33): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01928.hp1 HG01934.hp1 others(16): Show HG00733.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02074.hp2 HG02148.hp1 HG02300.hp1 HG03490.hp2 NA18948.hp2 NA18950.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18990.hp2 NA19068.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0004 a0001c0002 a0001c0005 a0002c0004	a0001c0002t0001 a0001c0005t0001 a0002c0004t0001 others(1): Show a0001c0002t0001 a0001c0005t0001 a0002c0004t0001 a0002c0004t0004	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(16): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0049 a0001c0002t0001g0059 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0108 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0005t0001g0087 a0002c0004t0001g0090 a0002c0004t0004g0065	19	216	0.0880	-40	c.-14 others(51): Show c.-1491_-1452delAGAGAGACAGACAGAGAGAGAGAGAGAGAGAGAG AGTGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		704		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156136	ACACTCTC others(33): Show ACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	216	0.0046	-40	c.-14 others(51): Show c.-1493_-1454delAGAGAGAGACAGACAGAGAGAGAGAGAGAGAGAG AGAGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		706		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156138	ACTCTCTC others(33): Show ACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02897.hp2 HG03486.hp2 others(2): Show HG02451.hp1 HG02897.hp2 HG03486.hp2 HG03516.hp1 NA18906.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(2): Show a0001c0001 a0001c0005 a0002c0003 a0002c0004 a0003c0006	a0001c0001t0024 a0001c0005t0013 a0002c0003t0011 others(2): Show a0001c0001t0024 a0001c0005t0013 a0002c0003t0011 a0002c0004t0004 a0003c0006t0005	a0001c0001t0024g0052 a0001c0005t0013g0007 a0002c0003t0011g0207 others(2): Show a0001c0001t0024g0052 a0001c0005t0013g0007 a0002c0003t0011g0207 a0002c0004t0004g0124 a0003c0006t0005g0132	5	216	0.0232	-40	c.-14 others(51): Show c.-1495_-1456delAGAGAGAGAGACAGACAGAGAGAGAGAGAGAGAG AGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		708		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24317730	TGGCTGCC others(33): Show TGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18522.hp2 HG02970.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0255 a0001c0001t0007g0286 a0001c0001t0007g0255 a0001c0001t0007g0286	2	326	0.0061	-40	c.308 others(57): Show c.308-3551_308-3512delCGGGCGGAGGGGCTCCTCACTTCTCAGA CGGGGCGGCTGC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPHKAP_chr2_227974955_228186687	228080707	CAAAATAA others(33): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02572.hp1 others(6): Show HG01884.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG06807.hp1 NA19000.hp2 NA19001.hp1 NA19066.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0003c0005t0001 a0003c0005t0005 a0002c0002t0001 a0003c0005t0001 a0003c0005t0005	a0002c0002t0001g0040 a0002c0002t0001g0166 a0002c0002t0001g0178 others(6): Show a0002c0002t0001g0040 a0002c0002t0001g0166 a0002c0002t0001g0178 a0003c0005t0001g0127 a0003c0005t0001g0128 a0003c0005t0001g0129 a0003c0005t0005g0086 a0003c0005t0005g0087 a0003c0005t0005g0104	9	322	0.0280	-40	c.246 others(59): Show c.246+28085_246+28124delATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPIDR_chr8_47255938_47741306	47588026	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02258.hp1 others(2): Show HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02615.hp2 HG02723.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0002 a0007c0008t0002 a0002c0002t0002 a0007c0008t0002	a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 others(2): Show a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0007c0008t0002g0019	5	216	0.0232	-40	c.109 others(59): Show c.1098-7763_1098-7724delTATATATATATATATATATATATATA TATATATATATATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIRE2_chr16_89823475_89876319	89852665	CCCGTCAT others(33): Show CCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG03225.hp1 others(5): Show HG00408.hp2 HG00741.hp1 HG03225.hp1 HG03471.hp1 NA19005.hp2 NA19012.hp2 NA19065.hp1 NA19067.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0099 a0001c0001t0001g0125 a0001c0001t0001g0160 others(5): Show a0001c0001t0001g0099 a0001c0001t0001g0125 a0001c0001t0001g0160 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0266 a0003c0005t0001g0300	8	356	0.0225	-40	c.646 others(57): Show c.646-1615_646-1576delATCCGTCTTCTCTCTCACCCCCCGGATC CCATGATCCGTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	TCCGTCTT others(33): Show TCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp2 NA18522.hp1 HG01891.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0112 a0001c0001t0001g0162 a0001c0001t0001g0163	3	356	0.0084	-40	c.646 others(57): Show c.646-1471_646-1432delGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852828	GTCTTCCG others(33): Show GTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	356	0.0028	-40	c.646 others(57): Show c.646-1431_646-1392delCATCCCATGGCCCCTCTTCCGTCCTCCC TCTCACCCCCCG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

Search by Variant

Search

Search Results (Total: 3176 hits)