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
SCARA3_chr8_27628902_27678018	27668546	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02083.hp1 HG03471.hp2 others(7): Show HG01192.hp1 HG02083.hp1 HG03471.hp2 NA18939.hp2 NA18947.hp1 NA18971.hp1 NA18985.hp2 NA19076.hp2 NA19084.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0026 a0001c0001t0001 a0002c0002t0026	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0088 a0001c0001t0001g0099 a0002c0002t0026g0287	10	408	0.0245	20	c.137 others(39): Show c.1370-2338_1370-2337insAAAAAAAAAAAAAAAAAAAA	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA5_chr8_27864883_27997673	27907572	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19005.hp2 HG03831.hp2 NA19005.hp2	a0002 a0002	a0002c0006 a0002c0010 a0002c0006 a0002c0010	a0002c0006t0001 a0002c0010t0003 a0002c0006t0001 a0002c0010t0003	a0002c0006t0001g0237 a0002c0010t0003g0273 a0002c0006t0001g0237 a0002c0010t0003g0273	2	314	0.0064	20	c.998 others(35): Show c.998-346_998-327dupAAAAAAAAAAAAAAAAAAAA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	5/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27936592	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG04204.hp1 NA19085.hp1 HG01978.hp1 HG04204.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0006 a0001c0002 a0001c0004 a0002c0006	a0001c0002t0012 a0001c0004t0003 a0002c0006t0009 a0001c0002t0012 a0001c0004t0003 a0002c0006t0009	a0001c0002t0012g0125 a0001c0004t0003g0215 a0002c0006t0009g0052 a0001c0002t0012g0125 a0001c0004t0003g0215 a0002c0006t0009g0052	3	314	0.0096	20	c.242 others(39): Show c.242-14348_242-14347insTTTTTTTTTTTTTTTTTTTT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	3/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27984504	T T	TCATCTAT others(13): Show TCATCTATCCATTCATTCATC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG00738.hp2 others(29): Show HG00323.hp2 HG00735.hp1 HG00738.hp2 HG01192.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03704.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0002c0010 a0002c0015 a0003c0011 a0003c0014 a0005c0029	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(24): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0032 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0024 a0001c0002t0048 a0001c0004t0003 a0001c0004t0011 a0001c0004t0016 a0001c0007t0002 a0001c0007t0005 a0001c0007t0010 a0001c0007t0013 a0001c0009t0011 a0001c0009t0016 a0002c0010t0003 a0002c0015t0036 a0003c0011t0028 a0003c0014t0029 a0003c0014t0031 a0003c0014t0062 a0005c0029t0033	a0001c0001t0001g0207 a0001c0001t0008g0252 a0001c0001t0013g0310 others(29): Show a0001c0001t0001g0207 a0001c0001t0008g0252 a0001c0001t0013g0310 a0001c0001t0014g0208 a0001c0001t0032g0118 a0001c0001t0047g0100 a0001c0002t0001g0210 a0001c0002t0002g0020 a0001c0002t0005g0211 a0001c0002t0005g0212 a0001c0002t0024g0120 a0001c0002t0048g0099 a0001c0004t0003g0213 a0001c0004t0011g0249 a0001c0004t0016g0098 a0001c0007t0002g0019 a0001c0007t0002g0097 a0001c0007t0005g0126 a0001c0007t0010g0016 a0001c0007t0013g0251 a0001c0009t0011g0119 a0001c0009t0016g0096 a0002c0010t0003g0209 a0002c0015t0036g0022 a0003c0011t0028g0308 a0003c0011t0028g0309 a0003c0011t0028g0311 a0003c0014t0029g0017 a0003c0014t0031g0018 a0003c0014t0031g0021 a0003c0014t0062g0307 a0005c0029t0033g0127	32	314	0.1019	20	c.112 others(37): Show c.112+2980_112+2999dupGATGAATGAATGGATAGATG	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	2/8			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124837472	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02622.hp1 HG03516.hp2 HG01361.hp1 HG02622.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0038 a0001c0001t0003g0239 a0001c0001t0005g0047 a0001c0001t0003g0038 a0001c0001t0003g0239 a0001c0001t0005g0047	3	356	0.0084	20	c.127 others(39): Show c.127-19785_127-19766dupCCTTCCTTCCTTCCTTCCTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124837534	G G	GAAAGAAA others(13): Show GAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0016 a0001c0013t0016	a0001c0013t0016g0334 a0001c0013t0016g0334	1	356	0.0028	20	c.127 others(39): Show c.127-19847_127-19828dupTCTTTTCTTTTCTTTTCTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCART1_chr10_133448945_133474760	133460471	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02647.hp1 HG02145.hp1 HG02622.hp1 HG02647.hp1	a0003 a0004 a0021 a0003 a0004 a0021	a0003c0027 a0004c0005 a0021c0055 a0003c0027 a0004c0005 a0021c0055	a0003c0027t0007 a0004c0005t0005 a0021c0055t0004 a0003c0027t0007 a0004c0005t0005 a0021c0055t0004	a0003c0027t0007g0119 a0004c0005t0005g0168 a0021c0055t0004g0047 a0003c0027t0007g0119 a0004c0005t0005g0168 a0021c0055t0004g0047	3	434	0.0069	20	c.196 others(37): Show c.1969+319_1969+320insATATATATATATATATATAT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133460525	A A	ATATTTAT others(13): Show ATATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02129.hp2 HG03710.hp1 others(10): Show HG01175.hp1 HG02129.hp2 HG03710.hp1 HG04199.hp1 NA18947.hp2 NA18965.hp2 NA18983.hp2 NA18985.hp1 NA19056.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19083.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0004 a0003c0007 others(2): Show a0002c0002 a0002c0004 a0003c0007 a0003c0024 a0004c0021	a0002c0002t0002 a0002c0002t0018 a0002c0004t0002 others(3): Show a0002c0002t0002 a0002c0002t0018 a0002c0004t0002 a0003c0007t0003 a0003c0024t0003 a0004c0021t0003	a0002c0002t0002g0041 a0002c0002t0002g0146 a0002c0002t0002g0147 others(9): Show a0002c0002t0002g0041 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0018g0074 a0002c0004t0002g0070 a0002c0004t0002g0086 a0003c0007t0003g0098 a0003c0024t0003g0106 a0003c0024t0003g0136 a0004c0021t0003g0100 a0004c0021t0003g0107	13	434	0.0300	20	c.196 others(37): Show c.1969+365_1969+384dupATTTATTTATTTATTTATTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCD5_chr4_82624539_82803796	82653676	T T	TGATAGAT others(13): Show TGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01346.hp2 HG01516.hp1 others(19): Show HG00621.hp1 HG01346.hp2 HG01516.hp1 HG02132.hp2 HG02258.hp1 HG02280.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02886.hp1 HG02897.hp1 HG03041.hp1 HG03130.hp2 HG03492.hp2 HG03927.hp2 NA18941.hp1 NA18946.hp1 NA18967.hp1 NA18986.hp1 NA19060.hp1 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017	a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0050 others(19): Show a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0003g0048 a0001c0001t0003g0098 a0001c0001t0004g0173 a0001c0001t0005g0066 a0001c0001t0006g0002 a0001c0001t0017g0006	22	210	0.1048	20	c.570 others(39): Show c.570-16873_570-16854dupTATCTATCTATCTATCTATC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82653702	A A	ATAGATAG others(13): Show ATAGATAGATAGATAGATAGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp2 HG03516.hp1 HG01109.hp2 HG02572.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0042 a0001c0001t0002g0080 a0001c0001t0010g0205 a0001c0001t0002g0042 a0001c0001t0002g0080 a0001c0001t0010g0205	3	210	0.0143	20	c.570 others(39): Show c.570-16880_570-16879insCCTATCTATCTATCTATCTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82664999	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	210	0.0048	20	c.569 others(39): Show c.569+15688_569+15707dupTATATATATATATATATATA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82664999	C C	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0205 a0001c0001t0010g0205	1	210	0.0048	20	c.569 others(39): Show c.569+15707_569+15708insTATATATATATAGAGAGAGA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82664999	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03516.hp1 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0042 a0001c0001t0012g0092 a0001c0001t0002g0042 a0001c0001t0012g0092	2	210	0.0095	20	c.569 others(39): Show c.569+15707_569+15708insTATATATAGAGAGAGAGAGA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77593296	G G	GTGTGTGT others(13): Show GTGTGTGTGTGCGCGCGCGTC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18997.hp2 NA18964.hp2 NA18997.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0306 a0002c0001t0001g0319 a0002c0001t0001g0306 a0002c0001t0001g0319	2	356	0.0056	20	c.693 others(35): Show c.693-217_693-216insGTGTGTGTGCGCGCGCGTCT	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	11/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18955.hp2 NA19002.hp1 others(3): Show HG00438.hp2 NA18955.hp2 NA19002.hp1 NA19007.hp1 NA19055.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0020 a0001c0004t0002g0099 a0001c0004t0002g0119 others(3): Show a0001c0004t0002g0020 a0001c0004t0002g0099 a0001c0004t0002g0119 a0001c0004t0002g0126 a0001c0004t0002g0127 a0001c0004t0002g0128	6	356	0.0169	20	c.169 others(37): Show c.1692-932_1692-913dupAAAAAAAAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCEL_chr13_77530706_77650263	77637287	C C	CACATATA others(13): Show CACATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0103	1	356	0.0028	20	c.183 others(37): Show c.1838+123_1838+142dupTAAATATATATACATATATA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD1_chr14_30617319_30740850	30677827	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp2 HG02257.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0151 a0001c0001t0001g0152	2	328	0.0061	20	c.124 others(39): Show c.1242+2774_1242+2793dupTTTTTTTTTTTTTTTTTTTT	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	52959897	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp2 HG02109.hp2 others(10): Show HG01261.hp1 HG01433.hp2 HG02109.hp2 HG02451.hp1 HG02630.hp2 HG02886.hp1 HG03225.hp2 NA18612.hp1 NA18941.hp2 NA18998.hp2 NA19009.hp1 NA19060.hp1 NA19066.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0002c0002 a0003c0015 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0003 a0001c0007t0003 a0002c0002t0001 a0003c0015t0003 a0007c0013t0001	a0001c0001t0001g0020 a0001c0001t0001g0108 a0001c0001t0002g0071 others(10): Show a0001c0001t0001g0020 a0001c0001t0001g0108 a0001c0001t0002g0071 a0001c0001t0002g0143 a0001c0004t0003g0134 a0001c0005t0001g0038 a0001c0005t0003g0046 a0001c0007t0003g0027 a0001c0007t0003g0028 a0002c0002t0001g0091 a0002c0002t0001g0095 a0003c0015t0003g0147 a0007c0013t0001g0031	13	162	0.0803	20	c.156 others(41): Show c.1562-39047_1562-39028dupGTGTGTGTGTGTGTGTGTGT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53007305	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01261.hp2 HG02451.hp2 others(4): Show HG01106.hp2 HG01261.hp2 HG02451.hp2 HG02622.hp1 HG02886.hp1 HG02896.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0004c0010t0001 a0001c0001t0001 a0001c0001t0002 a0004c0010t0001	a0001c0001t0001g0008 a0001c0001t0001g0056 a0001c0001t0001g0076 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0136 a0001c0001t0002g0143 a0004c0010t0001g0002	7	162	0.0432	20	c.156 others(41): Show c.1562-86455_1562-86436dupTCTCTCTCTCTCTCTCTCTC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53110041	G G	GGAACAGA others(13): Show GGAACAGAACAGAACAGAACA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02896.hp1 HG01106.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0136 a0001c0001t0008g0041 a0001c0001t0001g0136 a0001c0001t0008g0041	2	162	0.0124	20	c.156 others(41): Show c.1561+35272_1561+35291dupTGTTCTGTTCTGTTCTGTTC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02647.hp2 HG02698.hp1 others(2): Show HG01358.hp1 HG02647.hp2 HG02698.hp1 HG03225.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0130 a0001c0001t0007g0160	5	162	0.0309	20	c.156 others(39): Show c.1561+4940_1561+4941insATATATATATATATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53212602	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	162	0.0062	20	c.131 others(41): Show c.1311+61223_1311+61224insAACACACACACACACACACA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53255197	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01433.hp1 HG02735.hp1 others(1): Show HG00558.hp1 HG01433.hp1 HG02735.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0001t0001 a0001c0001t0002 a0001c0003t0003	a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0002g0057 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0002g0057 a0001c0003t0003g0132	4	162	0.0247	20	c.131 others(41): Show c.1311+18609_1311+18628dupTAAATAAATAAATAAATAAA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53258577	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01515.hp2 HG02129.hp1 others(1): Show HG01433.hp2 HG01515.hp2 HG02129.hp1 NA18963.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0012 a0001c0005 a0005c0012	a0001c0005t0001 a0001c0005t0004 a0005c0012t0001 a0001c0005t0001 a0001c0005t0004 a0005c0012t0001	a0001c0005t0001g0024 a0001c0005t0001g0038 a0001c0005t0004g0030 others(1): Show a0001c0005t0001g0024 a0001c0005t0001g0038 a0001c0005t0004g0030 a0005c0012t0001g0004	4	162	0.0247	20	c.131 others(41): Show c.1311+15248_1311+15249insGTATATATATATATATATAT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704244	C C	CATACATA others(13): Show CATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02056.hp1 HG04184.hp2 others(7): Show HG01934.hp1 HG02056.hp1 HG04184.hp2 NA18950.hp1 NA18967.hp1 NA18977.hp1 NA18986.hp1 NA18995.hp2 NA19003.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0131 a0001c0001t0001g0178 a0001c0001t0002g0006 others(6): Show a0001c0001t0001g0131 a0001c0001t0001g0178 a0001c0001t0002g0006 a0001c0001t0002g0071 a0001c0001t0002g0110 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0006g0196 a0001c0001t0009g0176	10	402	0.0249	20	c.120 others(39): Show c.1207+3003_1207+3004insCATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51704244	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18941.hp1 HG01496.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0002g0114 a0001c0001t0001g0068 a0001c0001t0002g0114	2	402	0.0050	20	c.120 others(39): Show c.1207+3016_1207+3035dupTATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02486.hp1 HG03540.hp2 others(5): Show HG02027.hp2 HG02486.hp1 HG03540.hp2 HG04115.hp1 NA18966.hp1 NA19056.hp1 NA19057.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0003t0003 a0003c0004t0002	a0001c0001t0001g0280 a0001c0001t0001g0307 a0001c0001t0002g0096 others(5): Show a0001c0001t0001g0280 a0001c0001t0001g0307 a0001c0001t0002g0096 a0001c0001t0003g0023 a0001c0001t0003g0042 a0001c0001t0003g0318 a0002c0003t0003g0384 a0003c0004t0002g0265	8	402	0.0199	20	c.120 others(39): Show c.1207+3532_1207+3551dupTATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709701	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	402	0.0025	20	c.120 others(39): Show c.1208-3631_1208-3630insATATTTTTTTTTTTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02055.hp2 HG02615.hp2 others(1): Show HG01993.hp2 HG02055.hp2 HG02615.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0143 a0001c0001t0001g0320	4	415	0.0096	20	c.226 others(39): Show c.226+13394_226+13395insATATATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(13): Show ATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03239.hp2 HG03669.hp1 HG02602.hp2 HG03239.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047	3	415	0.0072	20	c.226 others(39): Show c.226+13394_226+13395insATATATATATATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32663078	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	415	0.0024	20	c.227 others(39): Show c.227-16687_227-16686insTATATATATATATATATAAA	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32673527	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0397 a0001c0001t0001g0397	1	415	0.0024	20	c.227 others(37): Show c.227-6222_227-6203dupGTGTGTGTGTGTGTGTGTGT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1A1_chr11_62414033_62428195	62415764	G G	GTTTATTT others(13): Show GTTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(89): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01099.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18979.hp2 NA18981.hp2 NA18988.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19058.hp1 NA19059.hp2 NA19062.hp2 NA19074.hp1 NA19076.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0002g0002 a0001c0001t0002g0004	92	448	0.2054	20	c.-33 others(31): Show c.-3332_-3331insTTTATTTATTTATTTATTTA	SCGB1A1	ENSG00000149021.7	transcript	ENST00000278282.3	protein_coding		3268		chr11	TogoVar
SCGB1A1_chr11_62414033_62428195	62415764	G G	GTTTGTTT others(13): Show GTTTGTTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18944.hp1 NA18945.hp1 others(13): Show NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18951.hp1 NA18959.hp1 NA18962.hp1 NA18973.hp2 NA18978.hp2 NA18983.hp1 NA18994.hp2 NA19002.hp2 NA19004.hp1 NA19062.hp1 NA19080.hp2 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0072 a0001c0001t0001g0077	16	448	0.0357	20	c.-33 others(31): Show c.-3332_-3331insTTTGTTTATTTATTTATTTA	SCGB1A1	ENSG00000149021.7	transcript	ENST00000278282.3	protein_coding		3268		chr11	TogoVar
SCGB1A1_chr11_62414033_62428195	62415764	G G	GTTTGTTT others(13): Show GTTTGTTTGTTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	448	0.0022	20	c.-33 others(31): Show c.-3332_-3331insTTTGTTTGTTTATTTATTTA	SCGB1A1	ENSG00000149021.7	transcript	ENST00000278282.3	protein_coding		3268		chr11	TogoVar
SCGB1A1_chr11_62414033_62428195	62421491	T T	TCTTGCTT others(13): Show TCTTGCTTGCTTGCTTGCTTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	448	0.0022	20	c.56- others(33): Show c.56-714_56-695dupGCTTGCTTGCTTGCTTGCTT	SCGB1A1	ENSG00000149021.7	transcript	ENST00000278282.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB1D2_chr11_62237239_62249812	62237809	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA19043.hp1 NA20300.hp2 HG03453.hp2 NA19043.hp1 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0033 a0002c0003t0002g0008 a0002c0003t0002g0033	3	436	0.0069	20	c.-44 others(31): Show c.-4499_-4498insGTGTGTGTGTGTGTGTGTGT	SCGB1D2	ENSG00000124935.4	transcript	ENST00000244926.4	protein_coding		4429		chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34608660	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00621.hp2 others(39): Show HG00140.hp2 HG00438.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG01071.hp2 HG01109.hp1 HG01169.hp2 HG01243.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02698.hp2 HG02723.hp2 HG02922.hp2 HG03130.hp2 HG03195.hp2 HG03831.hp2 HG03927.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18954.hp2 NA18959.hp2 NA18970.hp2 NA18988.hp1 NA19004.hp2 NA19009.hp2 NA19030.hp2 NA19078.hp2 NA19082.hp2 NA19089.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(23): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0033 a0001c0001t0038 a0001c0001t0047 a0001c0001t0073 a0001c0001t0075 a0001c0001t0084 a0001c0001t0087 a0001c0001t0090 a0001c0001t0095 a0001c0001t0097 a0001c0001t0114	a0001c0001t0002g0220 a0001c0001t0002g0238 a0001c0001t0002g0241 others(39): Show a0001c0001t0002g0220 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0249 a0001c0001t0002g0256 a0001c0001t0003g0273 a0001c0001t0003g0277 a0001c0001t0003g0284 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0006g0171 a0001c0001t0007g0122 a0001c0001t0007g0164 a0001c0001t0008g0095 a0001c0001t0009g0124 a0001c0001t0011g0177 a0001c0001t0014g0312 a0001c0001t0015g0175 a0001c0001t0015g0195 a0001c0001t0016g0097 a0001c0001t0017g0263 a0001c0001t0020g0172 a0001c0001t0021g0148 a0001c0001t0021g0162 a0001c0001t0027g0101 a0001c0001t0033g0359 a0001c0001t0038g0146 a0001c0001t0047g0325 a0001c0001t0047g0326 a0001c0001t0073g0136 a0001c0001t0075g0137 a0001c0001t0084g0139 a0001c0001t0087g0150 a0001c0001t0090g0236 a0001c0001t0095g0207 a0001c0001t0097g0205 a0001c0001t0114g0318	42	370	0.1135	20	c.-20 others(43): Show c.-2031-12086_-2031-12067dupATATATATATATATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34608684	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0341 a0001c0001t0131g0341	1	370	0.0027	20	c.-20 others(43): Show c.-2031-12091_-2031-12090insGTATATATATATATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34669714	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02818.hp1 others(11): Show HG01884.hp1 HG02145.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03831.hp2 NA18612.hp2 NA18906.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 others(9): Show a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0032 a0001c0001t0040 a0001c0001t0051 a0001c0001t0070 a0001c0001t0079 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0112	a0001c0001t0010g0017 a0001c0001t0016g0097 a0001c0001t0017g0263 others(11): Show a0001c0001t0010g0017 a0001c0001t0016g0097 a0001c0001t0017g0263 a0001c0001t0032g0342 a0001c0001t0032g0343 a0001c0001t0040g0209 a0001c0001t0040g0210 a0001c0001t0051g0011 a0001c0001t0070g0090 a0001c0001t0079g0093 a0001c0001t0095g0207 a0001c0001t0096g0203 a0001c0001t0098g0264 a0001c0001t0112g0315	14	370	0.0378	20	c.-20 others(41): Show c.-2032+5915_-2032+5916insGTGTGTGTGTGTGTGTGTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCHIP1_chr3_159268244_159902359	159375729	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03471.hp2 NA19240.hp1 HG03195.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021	3	100	0.0300	20	c.63+ others(39): Show c.63+101858_63+101877dupTAAATAAATAAATAAATAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159665546	T T	TTGTATGT others(13): Show TTGTATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02717.hp1 others(4): Show HG02055.hp1 HG02451.hp1 HG02717.hp1 HG02976.hp1 HG03139.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0075 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0002t0001g0082 a0001c0002t0001g0084	7	100	0.0700	20	c.64- others(37): Show c.64-98894_64-98893insATGTGTGTGTGTGTGTGTGT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159668376	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp1 HG03471.hp1 others(2): Show HG02965.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0096 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0096 a0001c0002t0001g0074 a0002c0003t0001g0091	5	100	0.0500	20	c.64- others(37): Show c.64-96066_64-96047dupAAAAAAAAAAAAAAAAAAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159694537	C C	CAGGAAAG others(13): Show CAGGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0034 a0002c0003t0001g0034	1	100	0.0100	20	c.64- others(37): Show c.64-69905_64-69904insGGAAAGAAAGAAAGAAAGAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159815937	C C	CTATTTAT others(13): Show CTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp2 HG02486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0049 a0001c0002t0001g0039 a0001c0001t0001g0049 a0001c0002t0001g0039	2	100	0.0200	20	c.760 others(39): Show c.760-50216_760-50197dupATTTATTTATTTATTTATTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12566611	G G	GTTTGTTT others(13): Show GTTTGTTTTGTTTTGTTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01167.hp1 HG01167.hp2 others(28): Show HG00099.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG01496.hp2 HG02055.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02300.hp1 HG02630.hp2 HG02895.hp2 HG02965.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp1 NA18949.hp2 NA18970.hp2 NA18971.hp2 NA18981.hp1 NA18983.hp2 NA19000.hp2 NA19057.hp1 NA19064.hp1 NA19079.hp1 NA19080.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0015 a0001c0001 a0019c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0031 a0001c0001t0034 a0001c0001t0043 a0001c0001t0068 a0001c0001t0077 a0001c0001t0082 a0001c0001t0100 a0001c0001t0104 a0001c0001t0105 a0001c0001t0119 a0001c0001t0135 a0001c0001t0137 a0001c0001t0157 a0001c0001t0160 a0001c0001t0193 a0001c0001t0199 a0001c0001t0227 a0001c0001t0251 a0001c0001t0252 a0001c0001t0255 a0001c0001t0262 a0001c0001t0264 a0019c0015t0155	a0001c0001t0001g0054 a0001c0001t0002g0052 a0001c0001t0008g0025 others(28): Show a0001c0001t0001g0054 a0001c0001t0002g0052 a0001c0001t0008g0025 a0001c0001t0009g0009 a0001c0001t0018g0027 a0001c0001t0020g0013 a0001c0001t0020g0041 a0001c0001t0025g0022 a0001c0001t0031g0018 a0001c0001t0034g0032 a0001c0001t0043g0019 a0001c0001t0068g0044 a0001c0001t0077g0021 a0001c0001t0082g0035 a0001c0001t0100g0014 a0001c0001t0104g0042 a0001c0001t0105g0038 a0001c0001t0119g0039 a0001c0001t0135g0031 a0001c0001t0137g0029 a0001c0001t0157g0056 a0001c0001t0160g0026 a0001c0001t0193g0040 a0001c0001t0199g0017 a0001c0001t0227g0034 a0001c0001t0251g0024 a0001c0001t0252g0030 a0001c0001t0255g0023 a0001c0001t0262g0012 a0001c0001t0264g0016 a0019c0015t0155g0037	31	372	0.0833	20	c.-41 others(31): Show c.-4176_-4175insTTTGTTTTGTTTTGTTTTGT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding		4108		chr7	TogoVar
SCIN_chr7_12565720_12665182	12632083	C C	CATTTTAT others(13): Show CATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18959.hp2 NA18987.hp1 others(1): Show HG02129.hp2 NA18959.hp2 NA18987.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0048 a0001c0001t0132 others(1): Show a0001c0001t0017 a0001c0001t0048 a0001c0001t0132 a0001c0001t0185	a0001c0001t0017g0153 a0001c0001t0048g0210 a0001c0001t0132g0166 others(1): Show a0001c0001t0017g0153 a0001c0001t0048g0210 a0001c0001t0132g0166 a0001c0001t0185g0145	4	372	0.0108	20	c.131 others(39): Show c.1319+2908_1319+2927dupTTTTATTTTATTTTATTTTA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG02698.hp2 HG03239.hp2 HG01243.hp2 HG02698.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0221 a0002c0002t0232 a0002c0002t0239 a0002c0002t0221 a0002c0002t0232 a0002c0002t0239	a0002c0002t0221g0326 a0002c0002t0232g0331 a0002c0002t0239g0309 a0002c0002t0221g0326 a0002c0002t0232g0331 a0002c0002t0239g0309	3	372	0.0081	20	c.48 others(31): Show c.4858_*4859insATATATATATATATTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0240 a0001c0001t0240	a0001c0001t0240g0159 a0001c0001t0240g0159	1	372	0.0027	20	c.48 others(31): Show c.4858_*4859insATATATATATATTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02723.hp2 HG02895.hp1 others(3): Show HG01109.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG03139.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 others(3): Show a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0270	6	288	0.0208	20	c.687 others(37): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar

Search by Variant

Search

Search Results