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
SPRED1_chr15_38247836_38362249	38310153	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18962.hp2 NA18959.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0226 a0001c0001t0002g0221 a0001c0001t0002g0226	2	21	0.0952	28	c.207 others(47): Show c.207+10607_207+10608insGTGTGTGTGTGTGTGTGTGTGTGTGT TT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED2_chr2_65305851_65437599	65322294	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	142	0.0070	28	c.439 others(45): Show c.439-5412_439-5411insAAAAAAAAAAAATATATATATATATATA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65342147	A A	ATATGTAT others(21): Show ATATGTATATTTTATATACATATATTATG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp1 NA19043.hp1 HG02809.hp2 HG02886.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0003 a0001c0009t0001 a0001c0003t0003 a0001c0009t0001	a0001c0003t0003g0221 a0001c0003t0003g0225 a0001c0009t0001g0222 a0001c0003t0003g0221 a0001c0003t0003g0225 a0001c0009t0001g0222	3	274	0.0109	28	c.204 others(45): Show c.204+2544_204+2571dupCATAATATATGTATATAAAATATACATA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65342166	A A	ATATATTA others(21): Show ATATATTATGTATGTATATTTTATATACG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0235 a0001c0001t0006g0235	1	272	0.0037	28	c.204 others(45): Show c.204+2525_204+2552dupCGTATATAAAATATACATACATAATATA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65342166	A A	ATATATTA others(21): Show ATATATTATGTATGTATATTTTGTATACG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	272	0.0037	28	c.204 others(45): Show c.204+2552_204+2553insCGTATACAAAATATACATACATAATATA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65342188	A A	ATATACAT others(21): Show ATATACATATATTATGTATGTATATTTTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02970.hp1 HG02630.hp2 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0223 a0001c0003t0003g0224 a0001c0003t0003g0223 a0001c0003t0003g0224	2	31	0.0645	28	c.204 others(45): Show c.204+2530_204+2531insCAAAATATACATACATAATATATGTATA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65342188	A A	ATATACGT others(21): Show ATATACGTATATTATGTATGTATATTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(93): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02040.hp2 HG02071.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03195.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18973.hp2 NA18979.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18991.hp2 NA18999.hp1 NA19043.hp1 NA19058.hp2 NA19068.hp2 NA19070.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0003 a0001c0009t0001	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 others(93): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0003g0094 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0124 a0001c0001t0003g0156 a0001c0001t0003g0170 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0258 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0004g0046 a0001c0001t0008g0198 a0001c0001t0008g0199 a0001c0001t0008g0259 a0001c0001t0024g0274 a0001c0002t0001g0101 a0001c0002t0001g0115 a0001c0002t0001g0205 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0002g0048 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0004g0007 a0001c0002t0004g0021 a0001c0002t0004g0026 a0001c0002t0004g0028 a0001c0002t0004g0032 a0001c0002t0004g0035 a0001c0002t0004g0038 a0001c0002t0004g0042 a0001c0002t0004g0091 a0001c0003t0003g0221 a0001c0003t0003g0225 a0001c0009t0001g0222	96	125	0.7680	28	c.204 others(45): Show c.204+2503_204+2530dupCAAAATATACATACATAATATACGTATA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65342245	T T	TATACGTA others(21): Show TATACGTATATTATGTATGTATATTTTGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0052 a0001c0001t0010g0052	1	274	0.0036	28	c.204 others(45): Show c.204+2473_204+2474insGCAAAATATACATACATAATATACGTAT	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65342261	A A	ATGTATAT others(21): Show ATGTATATTTTGTATACGTATATTATGTG	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18612.hp2 NA18952.hp2 HG02129.hp2 NA18612.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0003g0165 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0003g0165	3	274	0.0109	28	c.204 others(45): Show c.204+2457_204+2458insCACATAATATACGTATACAAAATATACA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRR2E_chr1_153088135_153099526	153089107	A A	AGGTTGGG others(21): Show AGGTTGGGGCAAAGTGGCTGGGGCAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	437	0.0023	28	c.44 others(39): Show c.4425_*4426insACTTTGCCCCAGCCACTTTGCCCCAACC	SPRR2E	ENSG00000203785.9	transcript	ENST00000368750.8	protein_coding		4027		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(21): Show GTCTCTCTCCCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03540.hp2 HG01243.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0109 a0001c0002t0054 a0001c0001t0109 a0001c0002t0054	a0001c0001t0109g0118 a0001c0002t0054g0117 a0001c0001t0109g0118 a0001c0002t0054g0117	2	201	0.0100	28	c.-28 others(47): Show c.-282+3461_-282+3462insCCTCTCTCTCTCTCTCTCTCTCTCTC TC	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155716981	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG06807.hp2 HG01891.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0228 a0001c0001t0010g0133 a0001c0001t0003g0228 a0001c0001t0010g0133	2	78	0.0256	28	c.-28 others(49): Show c.-281-50977_-281-50950dupTATATATATATATATATATATATA TATA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTATTTT others(21): Show ATTATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG01515.hp1 HG00735.hp2 HG01106.hp2 HG01515.hp1	a0002 a0003 a0002 a0003	a0002c0008 a0003c0003 a0002c0008 a0003c0003	a0002c0008t0001 a0003c0003t0024 a0002c0008t0001 a0003c0003t0024	a0002c0008t0001g0237 a0003c0003t0024g0235 a0003c0003t0024g0236 a0002c0008t0001g0237 a0003c0003t0024g0235 a0003c0003t0024g0236	3	165	0.0182	28	c.258 others(47): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAAAAAAT AA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01081.hp2 HG00609.hp1 HG01081.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0010 a0001c0001t0002 a0003c0005t0010	a0001c0001t0002g0065 a0003c0005t0010g0103 a0001c0001t0002g0065 a0003c0005t0010g0103	2	164	0.0122	28	c.258 others(47): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTBN1_chr2_54451327_54676446	54465639	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0367 a0001c0001t0002g0367	1	20	0.0500	28	c.-48 others(45): Show c.-48+9124_-48+9151dupATATATATATATATATATATATATATAT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54495679	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTATTATACTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00558.hp2 others(41): Show HG00140.hp1 HG00408.hp1 HG00558.hp2 HG00639.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01257.hp1 HG01517.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02300.hp1 HG02486.hp1 HG03017.hp2 HG03491.hp2 HG03688.hp1 HG03704.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA18977.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA19055.hp2 NA19056.hp1 NA19081.hp1 NA19085.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0014 a0001c0023 a0001c0029 a0004c0034 a0006c0022	a0001c0001t0002 a0001c0001t0007 a0001c0001t0029 others(13): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0029 a0001c0001t0044 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0003t0003 a0001c0004t0004 a0001c0007t0001 a0001c0010t0002 a0001c0014t0037 a0001c0023t0005 a0001c0029t0007 a0004c0034t0001 a0006c0022t0052	a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0088 others(41): Show a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0282 a0001c0001t0007g0294 a0001c0001t0029g0100 a0001c0001t0044g0297 a0001c0002t0001g0067 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0291 a0001c0002t0001g0312 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0005g0121 a0001c0002t0006g0115 a0001c0002t0006g0273 a0001c0002t0006g0276 a0001c0002t0006g0290 a0001c0002t0006g0293 a0001c0003t0003g0284 a0001c0004t0004g0194 a0001c0004t0004g0195 a0001c0004t0004g0196 a0001c0007t0001g0081 a0001c0007t0001g0120 a0001c0007t0001g0192 a0001c0007t0001g0222 a0001c0007t0001g0311 a0001c0010t0002g0140 a0001c0014t0037g0011 a0001c0023t0005g0289 a0001c0029t0007g0283 a0004c0034t0001g0002 a0006c0022t0052g0083	44	343	0.1283	28	c.-47 others(47): Show c.-47-30692_-47-30691insTTTTTTTTTTTTTTTTTTATTATACT CT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522643	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0187 a0002c0006t0003g0187	1	368	0.0027	28	c.-47 others(45): Show c.-47-3727_-47-3726insGAGAGAGAGGAGAGAGAGAGAGAGAGGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522647	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0256 a0001c0003t0003g0256	1	365	0.0027	28	c.-47 others(45): Show c.-47-3715_-47-3714insGGAGAGAGAGAGAGAGAGGAGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGAAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp2 HG02258.hp1 others(2): Show HG01109.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0019 a0001c0005t0012 a0001c0008t0026 a0001c0001t0019 a0001c0005t0012 a0001c0008t0026	a0001c0001t0019g0031 a0001c0001t0019g0185 a0001c0005t0012g0369 others(2): Show a0001c0001t0019g0031 a0001c0001t0019g0185 a0001c0005t0012g0369 a0001c0005t0012g0370 a0001c0008t0026g0364	5	140	0.0357	28	c.-47 others(45): Show c.-47-3672_-47-3671insGAGAGAGAGAAAGAGAAAGAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp2 HG01081.hp1 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0066 a0001c0002t0001g0067	2	137	0.0146	28	c.-47 others(45): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAAAGAGAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0018 a0002c0026t0018	a0002c0026t0018g0067 a0002c0026t0018g0067	1	151	0.0066	28	c.660 others(47): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64765017	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0012 a0002c0006t0012	a0002c0006t0012g0032 a0002c0006t0012g0032	1	251	0.0040	28	c.634 others(47): Show c.6345+1708_6345+1709insACACACACACACACACACACACACAC AC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	32/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(21): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02738.hp2 HG04115.hp2 HG00099.hp2 HG02738.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0072 a0001c0001t0001g0133 a0001c0001t0001g0144	3	28	0.1071	28	c.130 others(47): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAGA AA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03225.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0011 a0001c0001t0001 a0001c0003t0011	a0001c0001t0001g0052 a0001c0003t0011g0154 a0001c0001t0001g0052 a0001c0003t0011g0154	2	258	0.0078	28	c.118 others(47): Show c.118-10885_118-10884insTATATATATATATATATATATATATA TA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01106.hp1 others(3): Show HG00099.hp2 HG01069.hp1 HG01106.hp1 HG01993.hp1 NA18994.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0161 a0001c0001t0001g0166 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0272	6	169	0.0355	28	c.113 others(45): Show c.113-8230_113-8203dupACACACACACACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161369314	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	198	0.0051	28	c.-12 others(47): Show c.-126+2120_-126+2121insAAGAAAGAAAGAGAAAGAAAGAAAGA AA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	200	0.0050	28	c.61- others(43): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQLE_chr8_124993505_125027283	125025833	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0004 a0005c0011t0004	a0005c0011t0004g0032 a0005c0011t0004g0032	1	194	0.0052	28	c.38 others(39): Show c.3888_*3889insACACACACACACACACACACACACACAC	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding		3551		chr8	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG00738.hp1 others(31): Show HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01358.hp2 HG01978.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02165.hp1 HG02698.hp1 HG02895.hp1 HG03209.hp1 HG03486.hp2 NA18612.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18975.hp2 NA18978.hp1 NA19002.hp1 NA19006.hp2 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19077.hp1 NA19090.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0005c0008 a0008c0012	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0005 a0005c0008t0001 a0008c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0036 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0116 a0001c0001t0001g0128 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0255 a0001c0003t0001g0174 a0001c0003t0001g0257 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0045 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0001g0084 a0002c0002t0001g0098 a0002c0002t0001g0159 a0002c0002t0005g0032 a0002c0002t0005g0048 a0005c0008t0001g0229 a0008c0012t0001g0253	34	91	0.3736	28	c.-92 others(37): Show c.-928_-927insTATATATATATATATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(21): Show CTATATATATATATATATATATGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 NA18906.hp2 HG01243.hp2 NA18906.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0001 a0005c0008t0001 a0002c0002t0001 a0005c0008t0001	a0002c0002t0001g0327 a0005c0008t0001g0326 a0002c0002t0001g0327 a0005c0008t0001g0326	2	59	0.0339	28	c.-92 others(37): Show c.-928_-927insTATATATATATATATATATATGTATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SRBD1_chr2_45383680_45616267	45414718	A A	ATACACAC others(21): Show ATACACACACACAGTGTGTATATAGTATG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	339	0.0029	28	c.233 others(47): Show c.2334-1453_2334-1426dupCATACTATATACACACTGTGTGTGTG TA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414777	C C	CACACACA others(21): Show CACACACACATAGTGTGTATATAGTATGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG03225.hp1 others(3): Show HG02615.hp1 HG02630.hp2 HG03225.hp1 HG03579.hp2 NA18906.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0005c0006t0001 a0001c0001t0003 a0005c0006t0001	a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 others(3): Show a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0244 a0005c0006t0001g0161 a0005c0006t0001g0162	6	356	0.0169	28	c.233 others(47): Show c.2334-1512_2334-1485dupACATACTATATACACACTATGTGTGT GT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414995	T T	TAGTGTGT others(21): Show TAGTGTGTATATAGTATGTATATACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	349	0.0029	28	c.233 others(47): Show c.2334-1703_2334-1702insGTGTGTATATACATACTATATACACA CT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01123.hp1 HG01168.hp2 others(11): Show HG00621.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01891.hp1 HG02129.hp1 HG02293.hp1 HG03540.hp2 HG03942.hp1 NA18959.hp2 NA18962.hp1 NA18988.hp1 NA19009.hp2 NA19089.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0010c0021	a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0037 a0001c0002t0039 a0002c0004t0005 a0010c0021t0002	a0001c0001t0016g0195 a0001c0002t0001g0138 a0001c0002t0002g0144 others(11): Show a0001c0001t0016g0195 a0001c0002t0001g0138 a0001c0002t0002g0144 a0001c0002t0002g0188 a0001c0002t0003g0139 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0214 a0001c0002t0037g0182 a0001c0002t0039g0171 a0002c0004t0005g0160 a0010c0021t0002g0045	14	29	0.4828	28	c.345 others(45): Show c.345+1317_345+1344dupGGAAGGAAGGAAGGAAGGAAGGAAGGAA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SRC_chr20_37341140_37411050	37361870	T T	TGTAGAGA others(21): Show TGTAGAGATGCTGGGGTCTCTGTGTGCAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01346.hp2 HG01099.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0277 a0001c0001t0001g0087 a0001c0001t0001g0277	2	274	0.0073	28	c.-24 others(47): Show c.-246-3324_-246-3323insTGGGGTCTCTGTGTGCAGGTAGAGAT GC	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0026 a0001c0002t0020g0026	1	194	0.0052	28	c.91+ others(43): Show c.91+7521_91+7522insATATATATTTTTTTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18522.hp1 HG02257.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0034 a0001c0004t0018 a0001c0001t0034 a0001c0004t0018	a0001c0001t0034g0164 a0001c0004t0018g0090 a0001c0001t0034g0164 a0001c0004t0018g0090	2	195	0.0103	28	c.91+ others(43): Show c.91+7521_91+7522insATATATATATATTTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02809.hp2 HG02895.hp2 others(1): Show HG01257.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0043 a0001c0003t0005g0047 a0001c0003t0005g0048 others(1): Show a0001c0003t0005g0043 a0001c0003t0005g0047 a0001c0003t0005g0048 a0001c0003t0005g0049	4	279	0.0143	28	c.206 others(45): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121961698	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0003	1	130	0.0077	28	c.-33 others(37): Show c.-335_-334insACACACACACACACACACACACACACAC	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		276		chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121961746	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	73	0.0137	28	c.-28 others(37): Show c.-287_-286insACACACACACACACACACACACACACAA	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		228		chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63913480	T T	TATATATA others(21): Show TATATATATATATATATATATATATATGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18984.hp2 HG03834.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0056 a0001c0002t0018 a0001c0002t0056	a0001c0002t0018g0068 a0001c0002t0056g0071 a0001c0002t0018g0068 a0001c0002t0056g0071	2	101	0.0198	28	c.67+ others(45): Show c.67+68608_67+68609insTATATATATATATATGGATATATATATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63919499	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0093 a0001c0002t0052g0093	1	64	0.0156	28	c.68- others(45): Show c.68-64425_68-64424insTATATATATATATATATATATATATATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA20805.hp2 HG01261.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0110 a0001c0002t0034 a0001c0001t0110 a0001c0002t0034	a0001c0001t0110g0056 a0001c0002t0034g0001 a0001c0001t0110g0056 a0001c0002t0034g0001	2	16	0.1250	28	c.490 others(45): Show c.490-3157_490-3130dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882699	G G	GGCACAAA others(21): Show GGCACAAAGACGCAAAAAGCCGCGGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01258.hp1 HG03831.hp2 HG00280.hp1 HG01258.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0016g0038 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0016g0038	3	54	0.0556	28	c.94 others(39): Show c.9460_*9461insGCCGCCGCGGCTTTTTGCGTCTTTGTGC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4588		chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206279581	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 NA19030.hp1 HG01109.hp1 HG02109.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0030 a0001c0006t0009 a0001c0006t0030	a0001c0006t0009g0161 a0001c0006t0009g0163 a0001c0006t0030g0162 a0001c0006t0009g0161 a0001c0006t0009g0163 a0001c0006t0030g0162	3	53	0.0566	28	c.68- others(45): Show c.68-23682_68-23681insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRP68_chr17_76033785_76077517	76062566	T T	TTATATAA others(21): Show TTATATAATATACATTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA21309.hp1 HG01168.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0181 a0001c0001t0002g0126 a0001c0001t0002g0181	2	304	0.0066	28	c.562 others(43): Show c.562-993_562-992insTTATATAATATATAATGTATATTATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062738	T T	TATATAAA others(21): Show TATATAAAATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	350	0.0029	28	c.562 others(45): Show c.562-1165_562-1164insTTTATATATATATATATATATTTTATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56502470	T T	TATATATA others(21): Show TATATATATATATATGTATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0021 a0001c0002t0011g0021	1	386	0.0026	28	c.62 others(37): Show c.621_*622insATGTATATATATATACATATATATATAT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	19/19	622	INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01496.hp1 HG02257.hp1 others(15): Show HG01106.hp2 HG01496.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp1 HG02895.hp2 HG03130.hp2 HG03195.hp2 NA18960.hp1 NA18962.hp1 NA18977.hp2 NA19062.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(15): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0001g0146 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0011g0102	18	105	0.1714	28	c.478 others(45): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTTTTTTTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPK2_chr7_105111374_105393921	105168745	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	67	0.0149	28	c.338 others(43): Show c.338+384_338+411dupCACACACACACACACACACACACACACA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	4/15			chr7	TogoVar

Search by Variant

Search

Search Results