Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SH3PXD2A_chr10_103589027_103860576	103596663	A A	ACACACAC others(13): Show ACACACACACACTCTCTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19043.hp1 NA21309.hp1 NA19030.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0027 a0001c0008t0027	a0001c0008t0027g0162 a0001c0008t0027g0175 a0001c0008t0027g0215 a0001c0008t0027g0162 a0001c0008t0027g0175 a0001c0008t0027g0215	3	250	0.0120	20	c.51 others(31): Show c.5152_*5153insAGAGAGAGAGTGTGTGTGTG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5152		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103596663	A A	ACACACTC others(13): Show ACACACTCTCTCTCTCTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG01884.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0240 a0001c0001t0044g0244 a0001c0001t0044g0240 a0001c0001t0044g0244	2	250	0.0080	20	c.51 others(31): Show c.5152_*5153insAGAGAGAGAGAGAGAGTGTG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5152		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103596685	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCTCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00609.hp2 others(20): Show HG00438.hp2 HG00558.hp2 HG00609.hp2 HG01071.hp2 HG01261.hp1 HG01358.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02486.hp1 HG03239.hp2 HG03710.hp1 HG03710.hp2 NA18942.hp1 NA18954.hp2 NA18959.hp1 NA18966.hp1 NA18975.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19084.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0017 a0001c0024 others(1): Show a0001c0002 a0001c0017 a0001c0024 a0009c0018	a0001c0002t0002 a0001c0002t0008 a0001c0002t0047 others(8): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0047 a0001c0002t0049 a0001c0002t0087 a0001c0002t0115 a0001c0002t0120 a0001c0002t0127 a0001c0017t0002 a0001c0024t0075 a0009c0018t0008	a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0018 others(20): Show a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0018 a0001c0002t0002g0026 a0001c0002t0002g0030 a0001c0002t0002g0038 a0001c0002t0002g0070 a0001c0002t0002g0073 a0001c0002t0008g0129 a0001c0002t0008g0168 a0001c0002t0008g0180 a0001c0002t0008g0235 a0001c0002t0047g0208 a0001c0002t0047g0237 a0001c0002t0049g0120 a0001c0002t0049g0190 a0001c0002t0087g0194 a0001c0002t0115g0134 a0001c0002t0120g0163 a0001c0002t0127g0139 a0001c0017t0002g0013 a0001c0024t0075g0050 a0009c0018t0008g0155	23	250	0.0920	20	c.51 others(31): Show c.5130_*5131insTGAGAGAGAGAGAGAGAGAG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5130		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103615483	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02080.hp2 NA20905.hp2 HG00597.hp2 HG02080.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0074 a0001c0002t0077 a0001c0024t0075 a0001c0002t0074 a0001c0002t0077 a0001c0024t0075	a0001c0002t0074g0084 a0001c0002t0077g0043 a0001c0024t0075g0050 a0001c0002t0074g0084 a0001c0002t0077g0043 a0001c0024t0075g0050	3	250	0.0120	20	c.920 others(37): Show c.920+1694_920+1713dupACACACACACACACACACAC	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	11/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103692203	C C	CAGTTAAC others(13): Show CAGTTAACTACAGCCCGCCCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0209 a0001c0005t0016g0209	1	250	0.0040	20	c.427 others(35): Show c.427+805_427+824dupTGGGCGGGCTGTAGTTAACT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	6/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103693289	C C	CCCCGCCC others(13): Show CCCCGCCCCGCCCCGCCCCAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp2 HG03139.hp1 others(1): Show HG02559.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0039 a0001c0009t0089 a0001c0009t0090 a0001c0009t0039 a0001c0009t0089 a0001c0009t0090	a0001c0009t0039g0112 a0001c0009t0039g0113 a0001c0009t0089g0219 others(1): Show a0001c0009t0039g0112 a0001c0009t0039g0113 a0001c0009t0089g0219 a0001c0009t0090g0095	4	250	0.0160	20	c.399 others(35): Show c.399-253_399-234dupCTGGGGCGGGGCGGGGCGGG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	5/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103702585	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGCGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp2 NA19030.hp1 HG02965.hp1 HG02976.hp2 NA19030.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0022 a0001c0001 a0010c0022	a0001c0001t0041 a0001c0001t0093 a0010c0022t0102 a0001c0001t0041 a0001c0001t0093 a0010c0022t0102	a0001c0001t0041g0239 a0001c0001t0093g0106 a0010c0022t0102g0216 a0001c0001t0041g0239 a0001c0001t0093g0106 a0010c0022t0102g0216	3	250	0.0120	20	c.399 others(37): Show c.399-9530_399-9529insCACACGCACACACACACACA	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	5/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103702596	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp2 HG01884.hp2 others(2): Show HG00597.hp1 HG01192.hp2 HG01884.hp2 HG04204.hp1 NA18949.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0003 a0003c0007 others(1): Show a0001c0001 a0001c0003 a0003c0007 a0008c0025	a0001c0001t0044 a0001c0001t0097 a0001c0003t0015 others(2): Show a0001c0001t0044 a0001c0001t0097 a0001c0003t0015 a0003c0007t0001 a0008c0025t0003	a0001c0001t0044g0244 a0001c0001t0097g0167 a0001c0003t0015g0236 others(2): Show a0001c0001t0044g0244 a0001c0001t0097g0167 a0001c0003t0015g0236 a0003c0007t0001g0204 a0008c0025t0003g0154	5	250	0.0200	20	c.399 others(37): Show c.399-9541_399-9540insACACACACACACACACACAC	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	5/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103795903	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0202 a0001c0001t0041g0202	1	250	0.0040	20	c.153 others(37): Show c.153+5359_153+5378dupCCTTCCTTCCTTCCTTCCTT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	2/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01257.hp1 HG01258.hp2 others(4): Show HG00544.hp2 HG01257.hp1 HG01258.hp2 HG02055.hp2 HG03239.hp1 HG04199.hp2 NA21309.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0001c0008 a0011c0020 a0001c0002 a0001c0008 a0011c0020	a0001c0002t0009 a0001c0002t0025 a0001c0002t0049 others(2): Show a0001c0002t0009 a0001c0002t0025 a0001c0002t0049 a0001c0008t0027 a0011c0020t0122	a0001c0002t0009g0192 a0001c0002t0025g0001 a0001c0002t0025g0220 others(3): Show a0001c0002t0009g0192 a0001c0002t0025g0001 a0001c0002t0025g0220 a0001c0002t0049g0190 a0001c0008t0027g0162 a0011c0020t0122g0191	7	250	0.0280	20	c.73- others(33): Show c.73-200_73-181dupGTGTGTGTGTGTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172329083	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0013 a0004c0006t0013	a0004c0006t0013g0018 a0004c0006t0013g0018	1	280	0.0036	20	c.92 others(31): Show c.9285_*9286insAAAAAAAAAAAAAATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		4415		chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172329540	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01070.hp2 HG01169.hp2 others(8): Show HG00621.hp2 HG01070.hp2 HG01169.hp2 HG02155.hp2 HG02165.hp1 HG02976.hp2 HG03486.hp1 NA18941.hp1 NA18962.hp1 NA19005.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0027 a0001c0001t0092 others(6): Show a0001c0001t0019 a0001c0001t0027 a0001c0001t0092 a0001c0001t0093 a0001c0002t0009 a0001c0002t0020 a0001c0002t0059 a0001c0002t0064 a0001c0002t0073	a0001c0001t0019g0154 a0001c0001t0019g0190 a0001c0001t0027g0244 others(8): Show a0001c0001t0019g0154 a0001c0001t0019g0190 a0001c0001t0027g0244 a0001c0001t0092g0261 a0001c0001t0093g0236 a0001c0002t0009g0077 a0001c0002t0009g0107 a0001c0002t0020g0085 a0001c0002t0059g0161 a0001c0002t0064g0147 a0001c0002t0073g0208	11	280	0.0393	20	c.88 others(31): Show c.8828_*8829insAAAAAAAAAAAAAAAAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		3958		chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348654	C C	CCTATCTA others(13): Show CCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	280	0.0036	20	c.101 others(39): Show c.1013-1342_1013-1323dupATAGATAGATAGATAGATAG	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348654	C C	CTATCCTA others(13): Show CTATCCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0055	1	280	0.0036	20	c.101 others(39): Show c.1013-1323_1013-1322insATAGATAGATAGATAGGATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348654	C C	CTATCCTA others(13): Show CTATCCTATCTATCTATCTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0029 a0002c0004t0029	a0002c0004t0029g0002 a0002c0004t0029g0002	1	280	0.0036	20	c.101 others(39): Show c.1013-1323_1013-1322insACAGATAGATAGATAGGATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368518	T T	TATATTAT others(13): Show TATATTATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0038 a0001c0003t0038	a0001c0003t0038g0202 a0001c0003t0038g0202	1	280	0.0036	20	c.427 others(37): Show c.427+5271_427+5272insTTTATATATATATATAATAT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169255622	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18986.hp1 NA18971.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0001 a0002c0003t0004g0001	2	216	0.0093	20	c.393 others(39): Show c.393+13178_393+13197dupGTGTGTGTGTGTGTGTGTGT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SH3RF2_chr5_145931578_146068292	146002469	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0021 a0021	a0021c0019 a0021c0019	a0021c0019t0001 a0021c0019t0001	a0021c0019t0001g0033 a0021c0019t0001g0033	1	272	0.0037	20	c.649 others(37): Show c.649-1539_649-1520dupAGGAAGGAAGGAAGGAAGGA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146047154	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02109.hp2 others(3): Show HG01069.hp2 HG01071.hp2 HG02109.hp2 HG02809.hp1 HG03139.hp2 HG03579.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0011 a0005c0004 others(1): Show a0001c0001 a0001c0011 a0005c0004 a0007c0009	a0001c0001t0001 a0001c0011t0001 a0005c0004t0002 others(1): Show a0001c0001t0001 a0001c0011t0001 a0005c0004t0002 a0007c0009t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0011t0001g0160 others(3): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0011t0001g0160 a0005c0004t0002g0205 a0007c0009t0001g0250 a0007c0009t0001g0251	6	272	0.0221	20	c.106 others(37): Show c.1060-613_1060-594dupGTGTGTGTGTGTGTGTGTGT	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146057980	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0212 a0001c0005t0001g0213 a0001c0005t0001g0212 a0001c0005t0001g0213	2	272	0.0074	20	c.155 others(39): Show c.1555+1770_1555+1771insATATATATATATATATATAT	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02074.hp2 HG03834.hp2 HG00423.hp2 HG02074.hp2 HG03834.hp2	a0003 a0003	a0003c0006 a0003c0009 a0003c0006 a0003c0009	a0003c0006t0030 a0003c0009t0003 a0003c0009t0038 a0003c0006t0030 a0003c0009t0003 a0003c0009t0038	a0003c0006t0030g0061 a0003c0009t0003g0108 a0003c0009t0038g0029 a0003c0006t0030g0061 a0003c0009t0003g0108 a0003c0009t0038g0029	3	172	0.0174	20	c.214 others(39): Show c.2148+9093_2148+9112dupGAGAGAGAGAGAGAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC2_chr5_148977150_149068062	149020113	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0176 a0001c0033t0176	a0001c0033t0176g0216 a0001c0033t0176g0216	1	326	0.0031	20	c.305 others(39): Show c.3053+6439_3053+6458dupGTGTGTGTGTGTGTGTGTGT	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	12/16			chr5	TogoVar
SHANK1_chr19_50654255_50724802	50679107	G G	GATGGGGA others(13): Show GATGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0102 a0001c0003t0102	a0001c0003t0102g0303 a0001c0003t0102g0303	1	316	0.0032	20	c.257 others(39): Show c.2578-6994_2578-6993insTCACCCTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0048 a0001c0004t0011g0048	1	316	0.0032	20	c.196 others(39): Show c.1965-3178_1965-3177insATATATATATATATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50707876	T T	TTTTTCTT others(13): Show TTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0194 a0001c0002t0009g0194	1	316	0.0032	20	c.107 others(39): Show c.1078-3382_1078-3363dupGAAAAGAAAAGAAAAGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHBG_chr17_7625135_7638372	7629375	C C	CTAAAATA others(13): Show CTAAAATAAAATAAAATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	20	c.-79 others(29): Show c.-798_-797insTAAAATAAAATAAAATAAAA	SHBG	ENSG00000129214.15	transcript	ENST00000380450.9	protein_coding		759		chr17	TogoVar
SHB_chr9_37910898_38074227	37920275	A A	AAAAACAA others(13): Show AAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0131 a0001c0004t0004g0131	1	330	0.0030	20	c.134 others(37): Show c.1347-291_1347-272dupGTTTTGTTTTGTTTTGTTTT	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	5/5			chr9	TogoVar
SHC2_chr19_411589_466033	442535	A A	ATGGGTGG others(13): Show ATGGGTGGGTGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02293.hp2 NA18985.hp2 others(1): Show HG01952.hp1 HG02293.hp2 NA18985.hp2 NA18989.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0008c0015 a0001c0003 a0008c0015	a0001c0003t0001 a0001c0003t0002 a0008c0015t0012 a0001c0003t0001 a0001c0003t0002 a0008c0015t0012	a0001c0003t0001g0113 a0001c0003t0002g0001 a0008c0015t0012g0027 a0001c0003t0001g0113 a0001c0003t0002g0001 a0008c0015t0012g0027	4	212	0.0189	20	c.469 others(37): Show c.469-1604_469-1603insCCCATCCATCCACCCACCCA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC2_chr19_411589_466033	464665	T T	TCCCCTCT others(13): Show TCCCCTCTCTCCAGACGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0190 a0002c0004t0005g0190	1	212	0.0047	20	c.-36 others(31): Show c.-3689_-3670dupCTCACGTCTGGAGAGAGGGG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding		3633		chr19	TogoVar
SHC4_chr15_48818741_48968919	48897756	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00621.hp1 others(25): Show HG00408.hp1 HG00597.hp2 HG00621.hp1 HG01255.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02698.hp1 HG03540.hp2 HG03834.hp2 HG03927.hp1 HG04228.hp2 NA18945.hp1 NA18949.hp2 NA18957.hp2 NA18961.hp1 NA18965.hp1 NA18970.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18987.hp1 NA18987.hp2 NA19009.hp1 NA19054.hp2 NA19064.hp1 NA19081.hp2 NA19085.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0002t0004 a0001c0002t0018 a0002c0003t0001 a0002c0003t0003 a0006c0013t0003	a0001c0001t0001g0041 a0001c0001t0001g0100 a0001c0001t0001g0169 others(25): Show a0001c0001t0001g0041 a0001c0001t0001g0100 a0001c0001t0001g0169 a0001c0001t0001g0182 a0001c0001t0001g0225 a0001c0001t0001g0299 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0322 a0001c0001t0002g0197 a0001c0001t0003g0096 a0001c0001t0003g0107 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0232 a0001c0001t0003g0239 a0001c0001t0003g0250 a0001c0001t0003g0270 a0001c0001t0003g0319 a0001c0001t0003g0359 a0001c0001t0003g0364 a0001c0001t0006g0195 a0001c0001t0013g0379 a0001c0002t0004g0130 a0001c0002t0018g0010 a0002c0003t0001g0095 a0002c0003t0003g0354 a0006c0013t0003g0127	28	384	0.0729	20	c.657 others(37): Show c.657-6965_657-6946dupGTGTGTGTGTGTGTGTGTGT	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01433.hp2 HG00597.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0339 a0001c0001t0002g0091 a0001c0001t0002g0339	2	384	0.0052	20	c.656 others(37): Show c.656+5564_656+5583dupAAAAAAAAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182918071	T T	TATATATA others(13): Show TATATATATGTATATATACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	302	0.0033	20	c.118 others(41): Show c.1182+11556_1182+11575dupGTGTATATATACATATATAT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924699	A A	AGGAAAGG others(13): Show AGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0284 a0001c0003t0001g0284	1	302	0.0033	20	c.118 others(39): Show c.1182+4947_1182+4948insCTTCCTTTCCTTTCCTTTCC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01109.hp1 HG01258.hp2 others(4): Show HG00597.hp1 HG01109.hp1 HG01258.hp2 HG02280.hp2 HG02647.hp1 HG04115.hp2 NA18971.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0001 a0011c0010t0001 a0001c0001t0001 a0011c0010t0001	a0001c0001t0001g0101 a0001c0001t0001g0165 a0001c0001t0001g0191 others(4): Show a0001c0001t0001g0101 a0001c0001t0001g0165 a0001c0001t0001g0191 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0233 a0011c0010t0001g0216	7	302	0.0232	20	c.118 others(39): Show c.1182+4926_1182+4945dupTCTTTCTTTCTTTCTTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp2 HG01891.hp2 others(14): Show HG00621.hp1 HG00741.hp2 HG01891.hp2 HG02015.hp1 HG02055.hp2 HG02135.hp2 HG02486.hp1 HG02809.hp1 HG02922.hp2 HG03453.hp2 HG03540.hp2 HG03704.hp2 HG03927.hp1 NA18957.hp2 NA18973.hp1 NA19063.hp1 NA19074.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0002c0002 a0007c0014 others(1): Show a0001c0001 a0002c0002 a0007c0014 a0009c0013	a0001c0001t0001 a0002c0002t0001 a0007c0014t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0007c0014t0001 a0009c0013t0001	a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0098 others(14): Show a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0162 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0220 a0001c0001t0001g0234 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0269 a0001c0001t0001g0278 a0002c0002t0001g0016 a0007c0014t0001g0302 a0009c0013t0001g0197	17	302	0.0563	20	c.118 others(39): Show c.1182+4692_1182+4711dupTCTTTCTTTCTTTCTTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	G G	GAAGGAAG others(13): Show GAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03098.hp2 HG06807.hp1 others(1): Show HG02273.hp1 HG03098.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0137 a0001c0001t0001g0207 others(1): Show a0001c0001t0001g0105 a0001c0001t0001g0137 a0001c0001t0001g0207 a0001c0001t0001g0268	4	302	0.0133	20	c.118 others(39): Show c.1182+4711_1182+4712insTCTTTCTTTCTTTCTTCCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182931943	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0063 a0003c0006t0001g0063	1	302	0.0033	20	c.107 others(39): Show c.1077-2211_1077-2192dupAAAAAAAAAAAAAAAAAAAA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182944121	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp2 others(40): Show HG00099.hp1 HG00280.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG02135.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02572.hp2 HG02717.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03579.hp1 HG03669.hp1 NA18612.hp2 NA18940.hp1 NA18942.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18990.hp1 NA19000.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0003c0006 a0003c0008 a0004c0004	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0003c0006t0001 a0003c0008t0001 a0004c0004t0001	a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0085 others(40): Show a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0219 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0275 a0001c0003t0001g0287 a0001c0003t0001g0288 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0035 a0002c0002t0001g0036 a0003c0006t0001g0057 a0003c0006t0001g0058 a0003c0008t0001g0052 a0004c0004t0001g0124 a0004c0004t0001g0154	43	302	0.1424	20	c.556 others(37): Show c.556-3598_556-3579dupATTTATTTATTTATTTATTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	2/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46610544	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02717.hp1 NA18944.hp2 HG00438.hp2 HG02717.hp1 NA18944.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0039 a0001c0001t0001g0120 a0003c0004t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0120 a0003c0004t0001g0020	3	184	0.0163	20	c.597 others(37): Show c.597-2175_597-2156dupAAAAAAAAAAAAAAAAAAAA	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	4/12			chr16	TogoVar
SHISA2_chr13_26039597_26057016	26049863	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18956.hp1 NA18970.hp2 others(2): Show HG00438.hp1 NA18956.hp1 NA18970.hp2 NA18995.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0015 a0001c0001t0005g0109 a0001c0001t0001g0015 a0001c0001t0005g0109	5	456	0.0110	20	c.334 others(35): Show c.334+759_334+778dupGTGTGTGTGTGTGTGTGTGT	SHISA2	ENSG00000180730.5	transcript	ENST00000319420.4	protein_coding	1/1			chr13	TogoVar
SHISA5_chr3_48462876_48509174	48481441	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19080.hp2 NA18954.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0042 a0001c0001t0001g0043	2	290	0.0069	20	c.234 others(37): Show c.234-2204_234-2185dupATTTTATTTTATTTTATTTT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA6_chr17_11236213_11569063	11277241	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19043.hp1 HG01891.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0016 a0001c0001t0001 a0001c0004t0016	a0001c0001t0001g0088 a0001c0004t0016g0117 a0001c0001t0001g0088 a0001c0004t0016g0117	2	192	0.0104	20	c.799 others(39): Show c.799+13736_799+13755dupTCTCTCTCTCTCTCTCTCTC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(13): Show TCTCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0018 a0001c0002t0007g0018	1	192	0.0052	20	c.799 others(39): Show c.799+13755_799+13756insTCTCTCACACACACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18973.hp2 NA18999.hp2 HG02572.hp1 NA18973.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0013 a0001c0002t0023 a0001c0001t0003 a0001c0001t0013 a0001c0002t0023	a0001c0001t0003g0052 a0001c0001t0013g0017 a0001c0002t0023g0001 a0001c0001t0003g0052 a0001c0001t0013g0017 a0001c0002t0023g0001	3	192	0.0156	20	c.799 others(39): Show c.799+13755_799+13756insTCTCTCTCTCACACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	192	0.0052	20	c.799 others(39): Show c.799+13755_799+13756insTCTCTCTCTCTCACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11397395	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0018 a0001c0002t0007g0018	1	192	0.0052	20	c.895 others(39): Show c.895+17902_895+17921dupGTGTGTGTGTGTGTGTGTGT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA7_chr19_55423740_55448300	55435366	T T	TGTGTGTG others(13): Show TGTGTGTGTGGTGTATATGTG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19070.hp1 NA19077.hp2 NA18961.hp1 NA19070.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0016 a0001c0001t0012g0016	3	372	0.0081	20	c.977 others(37): Show c.977-1590_977-1571dupCACATATACACCACACACAC	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	3/3			chr19	TogoVar
SHISA7_chr19_55423740_55448300	55443231	A A	AGAGGGGT others(13): Show AGAGGGGTGTGCAGACATTAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0042 a0001c0001t0019g0042	1	372	0.0027	20	c.-38 others(29): Show c.-388_-369dupCTAATGTCTGCACACCCCTC	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	1/4	369		chr19	TogoVar
SHISA8_chr22_41904543_41920074	41906182	T T	TCTGCGTT others(13): Show TCTGCGTTCCCTCCCCTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	20	c.35 others(31): Show c.3563_*3582dupGCCCAGGGGAGGGAACGCAG	SHISA8	ENSG00000234965.3	transcript	ENST00000621082.2	protein_coding		3360		chr22	TogoVar
SHISA9_chr16_12896598_13245416	13004950	A A	AGAAAAAA others(13): Show AGAAAAAAGAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	214	0.0047	20	c.691 others(39): Show c.691+88135_691+88136insGAAAAAAGAAAAAAAGAAAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4			chr16	TogoVar

Search by Variant

Search

Search Results