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
SMIM14_chr4_39541336_39643865	39576684	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp1 HG02647.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0238 a0001c0001t0022g0239 a0001c0001t0022g0238 a0001c0001t0022g0239	2	344	0.0058	-12	c.76- others(27): Show c.76-4233_76-4222delAAAAAAAAAAAA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39632775	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01109.hp1 others(10): Show HG00609.hp2 HG00738.hp2 HG01109.hp1 HG02258.hp2 HG02280.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03209.hp1 HG03579.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0046 a0001c0001t0002g0241 a0001c0001t0003g0092 others(10): Show a0001c0001t0001g0046 a0001c0001t0002g0241 a0001c0001t0003g0092 a0001c0001t0004g0093 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0045 a0001c0001t0008g0047 a0001c0001t0008g0079	13	344	0.0378	-12	c.-36 others(29): Show c.-36+5952_-36+5963delTGTGTGTGTGTG	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39632820	CACACACA others(5): Show CACACACAAAAGA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	1	344	0.0029	-12	c.-36 others(29): Show c.-36+5907_-36+5918delTCTTTTGTGTGT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56645247	CTGTGTGT others(5): Show CTGTGTGTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	418	0.0024	-12	c.-10 others(29): Show c.-100-313_-100-302delCTGTGTGTGTGT	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM17_chr19_56638159_56662247	56647420	TGAGAGAG others(5): Show TGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(73): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG01975.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp2 HG02257.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18941.hp1 NA18968.hp2 NA18979.hp1 NA18998.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0002t0009 a0001c0002t0022	a0001c0001t0001g0110 a0001c0001t0002g0018 a0001c0001t0002g0041 others(36): Show a0001c0001t0001g0110 a0001c0001t0002g0018 a0001c0001t0002g0041 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0003g0172 a0001c0001t0004g0002 a0001c0001t0004g0028 a0001c0001t0004g0055 a0001c0001t0004g0171 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0006g0020 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0033 a0001c0001t0006g0070 a0001c0001t0006g0103 a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0015g0043 a0001c0001t0015g0186 a0001c0001t0023g0104 a0001c0001t0027g0020 a0001c0001t0028g0095 a0001c0002t0009g0009 a0001c0002t0009g0113 a0001c0002t0022g0009	76	418	0.1818	-12	c.170 others(27): Show c.170-118_170-107delAGAGAGAGAGAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM17_chr19_56638159_56662247	56648051	TTCCATCC others(5): Show TTCCATCCATCCA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00544.hp2 others(61): Show HG00280.hp2 HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02300.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03209.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG04228.hp1 NA18941.hp1 NA18968.hp2 NA18979.hp1 NA19030.hp1 NA19055.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0002t0002 a0001c0002t0009 a0001c0002t0022	a0001c0001t0002g0109 a0001c0001t0003g0120 a0001c0001t0003g0164 others(28): Show a0001c0001t0002g0109 a0001c0001t0003g0120 a0001c0001t0003g0164 a0001c0001t0004g0002 a0001c0001t0004g0028 a0001c0001t0004g0055 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0005g0076 a0001c0001t0006g0020 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0103 a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0010g0021 a0001c0001t0010g0205 a0001c0001t0010g0206 a0001c0001t0010g0207 a0001c0001t0011g0084 a0001c0001t0027g0020 a0001c0001t0030g0204 a0001c0001t0031g0021 a0001c0002t0002g0182 a0001c0002t0009g0009 a0001c0002t0022g0009	64	418	0.1531	-12	c.246 others(27): Show c.246+461_246+472delATCCATCCATCC	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM17_chr19_56638159_56662247	56648131	TATCCATC others(5): Show TATCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp2 HG01243.hp1 others(17): Show HG00408.hp2 HG01123.hp2 HG01243.hp1 HG01891.hp2 HG02559.hp2 HG02630.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03209.hp1 HG03516.hp2 NA18970.hp1 NA18989.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0037 a0001c0002t0009 a0001c0002t0022	a0001c0001t0001g0133 a0001c0001t0003g0160 a0001c0001t0003g0165 others(10): Show a0001c0001t0001g0133 a0001c0001t0003g0160 a0001c0001t0003g0165 a0001c0001t0004g0028 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0006g0033 a0001c0001t0006g0070 a0001c0001t0010g0206 a0001c0001t0037g0185 a0001c0002t0009g0009 a0001c0002t0009g0113 a0001c0002t0022g0009	20	418	0.0479	-12	c.246 others(27): Show c.246+536_246+547delCCATCCATCCAT	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM17_chr19_56638159_56662247	56648375	TTCCATCC others(5): Show TTCCATCCATCCA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03195.hp2 others(1): Show HG02280.hp1 HG02572.hp2 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0044 a0001c0002t0002g0111 a0001c0002t0002g0112	4	418	0.0096	-12	c.246 others(27): Show c.246+766_246+777delTCCATCCATCCA	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM17_chr19_56638159_56662247	56649416	CCGAGGTA others(5): Show CCGAGGTAGACAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03195.hp2 others(1): Show HG02280.hp1 HG02572.hp2 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0044 a0001c0002t0002g0111 a0001c0002t0002g0112	4	418	0.0096	-12	c.246 others(29): Show c.246+1783_246+1794delCGAGGTAGACAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	3/3			chr19	TogoVar
SMIM17_chr19_56638159_56662247	56658685	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	418	0.0024	-12	c.34 others(23): Show c.3473_*3484delAAAAAAAAAAAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		1439		chr19	TogoVar
SMIM20_chr4_25909220_25934812	25917934	TTTTTTTT others(5): Show TTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	438	0.0023	-12	c.109 others(29): Show c.109+3524_109+3535delGTTTTTTTTTTT	SMIM20	ENSG00000250317.9	transcript	ENST00000506197.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM21_chr18_75404476_75432703	75414110	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01257.hp1 HG01106.hp2 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0165 a0001c0001t0004g0162 a0001c0001t0004g0165	2	432	0.0046	-12	c.261 others(29): Show c.261-3213_261-3202delATGTGTGTGTGT	SMIM21	ENSG00000206026.7	transcript	ENST00000579022.5	protein_coding	2/2			chr18	TogoVar
SMIM2_chr13_44138150_44166257	44150820	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	380	0.0026	-12	c.254 others(29): Show c.254-6910_254-6899delGTGTGTGTGTGT	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding	2/2			chr13	TogoVar
SMIM31_chr4_164749131_164808795	164749438	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0207 a0001c0001t0013g0207	1	364	0.0028	-12	c.-49 others(23): Show c.-4998_-4987delAAAAAAAAAAAA	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding		4692		chr4	TogoVar
SMIM31_chr4_164749131_164808795	164758801	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(28): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00673.hp2 HG01168.hp1 HG01257.hp1 HG01258.hp2 HG02004.hp1 HG02129.hp2 HG02155.hp1 HG03209.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18964.hp2 NA18966.hp2 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19090.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0210 others(27): Show a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0095 a0001c0001t0002g0143 a0001c0001t0002g0216 a0001c0001t0003g0002 a0001c0001t0003g0209 a0001c0001t0004g0220 a0001c0001t0004g0229 a0001c0001t0005g0001 a0001c0001t0005g0204 a0001c0001t0005g0212 a0001c0001t0005g0217 a0001c0001t0005g0221 a0001c0001t0005g0247 a0001c0001t0008g0047 a0001c0001t0017g0117 a0001c0001t0018g0056	31	364	0.0852	-12	c.-26 others(29): Show c.-26+4419_-26+4430delTTTTTTTTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164761922	CAAATAAA others(5): Show CAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01884.hp2 HG02717.hp1 others(7): Show HG00609.hp1 HG01884.hp2 HG02717.hp1 HG02717.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0026	a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0137 others(7): Show a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0137 a0001c0001t0002g0270 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0008g0091 a0001c0001t0013g0207 a0001c0001t0026g0271	10	364	0.0275	-12	c.-26 others(29): Show c.-26+7542_-26+7553delATAAATAAATAA	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164781129	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02717.hp1 HG02970.hp2 HG02071.hp1 HG02717.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0003g0327 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0003g0327	3	364	0.0082	-12	c.112 others(31): Show c.112+10594_112+10605delCACACACACACA	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM35_chr11_117998634_118091963	118014384	AGATGGAT others(5): Show AGATGGATGGATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01975.hp1 HG02055.hp2 others(25): Show HG00280.hp2 HG01975.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03209.hp2 HG03831.hp1 HG04228.hp1 NA18612.hp2 NA18943.hp1 NA18955.hp2 NA18957.hp2 NA19030.hp1 NA19043.hp2 NA19067.hp2 NA19091.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0010 a0002c0002t0007 others(2): Show a0001c0001t0006 a0001c0001t0010 a0002c0002t0007 a0002c0002t0011 a0002c0002t0029	a0001c0001t0006g0072 a0001c0001t0010g0363 a0002c0002t0007g0003 others(25): Show a0001c0001t0006g0072 a0001c0001t0010g0363 a0002c0002t0007g0003 a0002c0002t0007g0010 a0002c0002t0007g0011 a0002c0002t0007g0033 a0002c0002t0007g0041 a0002c0002t0007g0087 a0002c0002t0007g0088 a0002c0002t0007g0141 a0002c0002t0007g0167 a0002c0002t0007g0214 a0002c0002t0007g0215 a0002c0002t0007g0218 a0002c0002t0007g0228 a0002c0002t0007g0229 a0002c0002t0007g0276 a0002c0002t0007g0299 a0002c0002t0007g0317 a0002c0002t0007g0318 a0002c0002t0011g0364 a0002c0002t0011g0366 a0002c0002t0011g0368 a0002c0002t0011g0370 a0002c0002t0011g0386 a0002c0002t0011g0402 a0002c0002t0011g0403 a0002c0002t0029g0043	28	408	0.0686	-12	c.158 others(27): Show c.158+312_158+323delCATCCATCCATC	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	3/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118048537	AGAAGGAA others(5): Show AGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00738.hp2 others(38): Show HG00408.hp2 HG00423.hp1 HG00738.hp2 HG01952.hp2 HG02080.hp1 HG02129.hp1 HG02280.hp1 HG02523.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03704.hp2 HG03927.hp1 NA18612.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp2 NA18959.hp1 NA18968.hp1 NA18969.hp1 NA18982.hp2 NA18987.hp2 NA18993.hp1 NA18999.hp1 NA19002.hp2 NA19009.hp1 NA19056.hp2 NA19060.hp2 NA19067.hp2 NA19084.hp2 NA19087.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0024 a0001c0001t0032 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0028 a0002c0002t0036	a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0246 others(38): Show a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0246 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0003g0076 a0001c0001t0006g0300 a0001c0001t0008g0373 a0001c0001t0010g0360 a0001c0001t0010g0369 a0001c0001t0018g0156 a0001c0001t0024g0278 a0001c0001t0032g0390 a0002c0002t0002g0055 a0002c0002t0002g0159 a0002c0002t0002g0231 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0254 a0002c0002t0002g0258 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0272 a0002c0002t0002g0277 a0002c0002t0002g0280 a0002c0002t0002g0282 a0002c0002t0002g0308 a0002c0002t0002g0311 a0002c0002t0005g0374 a0002c0002t0005g0375 a0002c0002t0007g0228 a0002c0002t0007g0229 a0002c0002t0007g0276 a0002c0002t0011g0364 a0002c0002t0011g0366 a0002c0002t0011g0370 a0002c0002t0011g0386 a0002c0002t0028g0116 a0002c0002t0036g0376	41	408	0.1005	-12	c.8-3 others(27): Show c.8-32740_8-32729delCTTCCTTCCTTC	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118048586	GAAGGAAG others(5): Show GAAGGAAGGAAGC	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	408	0.0025	-12	c.8-3 others(27): Show c.8-32789_8-32778delGCTTCCTTCCTT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118051825	GATACTAA others(5): Show GATACTAATACTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG03098.hp1 others(4): Show HG02257.hp2 HG02486.hp1 HG03098.hp1 HG03579.hp2 NA18951.hp1 NA18959.hp1 NA18969.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0012 a0001c0001t0031 a0002c0002t0002 others(1): Show a0001c0001t0012 a0001c0001t0031 a0002c0002t0002 a0004c0004t0033	a0001c0001t0012g0054 a0001c0001t0012g0110 a0001c0001t0031g0002 others(4): Show a0001c0001t0012g0054 a0001c0001t0012g0110 a0001c0001t0031g0002 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0277 a0004c0004t0033g0320	7	408	0.0172	-12	c.7+3 others(27): Show c.7+34914_7+34925delTAGTATTAGTAT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118052119	GCAACTCT others(5): Show GCAACTCTTGGAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02886.hp2 others(2): Show HG02258.hp2 HG02451.hp2 HG02886.hp2 HG03041.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0012 a0002c0002t0007 a0001c0001t0003 a0001c0001t0012 a0002c0002t0007	a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0012g0032 others(2): Show a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0012g0032 a0002c0002t0007g0003 a0002c0002t0007g0033	5	408	0.0123	-12	c.7+3 others(27): Show c.7+34620_7+34631delTTCCAAGAGTTG	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118053307	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(44): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01168.hp1 HG01243.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01943.hp1 HG01952.hp1 HG02055.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03490.hp2 HG03516.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG04228.hp2 NA18977.hp2 NA18982.hp1 NA18985.hp1 NA18987.hp1 NA18991.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19058.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19082.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0006t0006 a0001c0006t0027 a0002c0002t0002 a0002c0002t0007 a0002c0002t0028 a0003c0003t0013	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 others(44): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0313 a0001c0001t0003g0034 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0123 a0001c0001t0003g0147 a0001c0001t0003g0307 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0117 a0001c0001t0004g0126 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0006g0142 a0001c0001t0008g0397 a0001c0001t0015g0036 a0001c0001t0015g0037 a0001c0006t0006g0139 a0001c0006t0027g0118 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0130 a0002c0002t0002g0146 a0002c0002t0002g0293 a0002c0002t0007g0041 a0002c0002t0007g0141 a0002c0002t0028g0116 a0003c0003t0013g0131	47	408	0.1152	-12	c.7+3 others(27): Show c.7+33432_7+33443delGTGTGTGTGTGT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118067860	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0349 a0002c0002t0005g0349	1	408	0.0025	-12	c.7+1 others(27): Show c.7+18879_7+18890delATATATATATAT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118078013	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02970.hp1 HG03139.hp2 HG01074.hp2 HG02970.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0025 a0001c0001t0006 a0001c0001t0018 a0001c0001t0025	a0001c0001t0006g0154 a0001c0001t0018g0156 a0001c0001t0025g0155 a0001c0001t0006g0154 a0001c0001t0018g0156 a0001c0001t0025g0155	3	408	0.0074	-12	c.7+8 others(25): Show c.7+8726_7+8737delTTTTTTTTTTTT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55508431	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18989.hp1 NA18945.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0159 a0001c0001t0003g0160	2	340	0.0059	-12	c.17 others(31): Show c.174+2436_*174+2447delATATATATATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55515084	GTGTTTTT others(5): Show GTGTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01978.hp2 HG02056.hp2 others(17): Show HG01891.hp2 HG01978.hp2 HG02056.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03834.hp2 HG04204.hp2 NA18959.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0003t0004	a0001c0001t0001g0092 a0001c0001t0002g0272 a0001c0001t0002g0274 others(17): Show a0001c0001t0001g0092 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0294 a0001c0001t0002g0310 a0001c0001t0002g0322 a0001c0001t0002g0328 a0001c0001t0006g0297 a0001c0001t0006g0314 a0001c0001t0006g0319 a0001c0001t0006g0323 a0001c0001t0008g0285 a0001c0001t0008g0287 a0001c0001t0008g0318 a0001c0001t0008g0320 a0001c0001t0008g0324 a0001c0001t0011g0317 a0001c0001t0014g0286 a0001c0003t0004g0007	20	340	0.0588	-12	c.-37 others(23): Show c.-3762_-3751delAAAAAAAAAACA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding		3633		chr17	TogoVar
SMIM40_chr6_33318628_33334279	33324882	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03209.hp2 NA18953.hp2 others(1): Show HG00741.hp2 HG03209.hp2 NA18953.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0137 others(1): Show a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0137 a0001c0001t0001g0138	4	383	0.0104	-12	c.40 others(27): Show c.40-864_*40-853delTTTTTTTTTTTT	SMIM40	ENSG00000286920.2	transcript	ENST00000494082.3	protein_coding	1/2			chr6	TogoVar
SMIM40_chr6_33318628_33334279	33328886	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	383	0.0026	-12	c.39 others(26): Show c.39+89_*39+100delTTTTTTTTTTTT	SMIM40	ENSG00000286920.2	transcript	ENST00000494082.3	protein_coding	1/2			chr6	TogoVar
SMIM45_chr22_41947150_41963939	41953740	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 NA19030.hp1 HG02055.hp2 HG02257.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0022 a0001c0001t0028 a0001c0001t0017 a0001c0001t0022 a0001c0001t0028	a0001c0001t0017g0077 a0001c0001t0022g0078 a0001c0001t0028g0076 a0001c0001t0017g0077 a0001c0001t0022g0078 a0001c0001t0028g0076	3	382	0.0079	-12	c.-15 others(29): Show c.-15+1336_-15+1347delTTTTTTTTTTTT	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM47_chr19_50780728_50791160	50781142	GTCTTCTG others(5): Show GTCTTCTGGGAAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	-12	c.46 others(23): Show c.4658_*4669delGTTCCCAGAAGA	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		4585		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50781750	TCTTGTAA others(5): Show TCTTGTAACTGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	-12	c.40 others(23): Show c.4050_*4061delTGCAGTTACAAG	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		3977		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50785497	AAATGTTC others(5): Show AAATGTTCTTCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	-12	c.30 others(21): Show c.303_*314delAGGAAGAACATT	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		230		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50786849	TATACACA others(5): Show TATACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA19043.hp2 HG02976.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	-12	c.-75 others(21): Show c.-757_-746delGTGTGTGTGTAT	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		690		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50786851	TACACACA others(5): Show TACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(85): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02074.hp2 HG02109.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02895.hp2 HG02970.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18993.hp2 NA18999.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0006 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0006	88	352	0.2500	-12	c.-75 others(21): Show c.-759_-748delGTGTGTGTGTGT	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		692		chr19	TogoVar
SMIM6_chr17_75641251_75652974	75647267	CACAGAGG others(5): Show CACAGAGGCTGCT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	416	0.0024	-12	c.-6- others(23): Show c.-6-93_-6-82delCTACAGAGGCTG	SMIM6	ENSG00000259120.3	transcript	ENST00000579469.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMIM8_chr6_87317588_87347329	87317816	ACACTGAA others(5): Show ACACTGAATGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA20129.hp1 HG03041.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0138 a0001c0001t0001g0141	2	420	0.0048	-12	c.-48 others(23): Show c.-4860_-4849delCACTGAATGCAC	SMIM8	ENSG00000111850.11	transcript	ENST00000392863.6	protein_coding		4771		chr6	TogoVar
SMIM8_chr6_87317588_87347329	87334434	CTTGTTTG others(5): Show CTTGTTTGTTTGT	C C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	420	0.0024	-12	c.-23 others(29): Show c.-23-2556_-23-2545delGTTTGTTTGTTT	SMIM8	ENSG00000111850.11	transcript	ENST00000392863.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM8_chr6_87317588_87347329	87339325	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02622.hp2 others(5): Show HG02257.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02922.hp1 HG03209.hp1 HG03831.hp2 HG04115.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0007 a0002c0003t0004 others(1): Show a0001c0001t0002 a0001c0001t0007 a0002c0003t0004 a0003c0004t0016	a0001c0001t0002g0084 a0001c0001t0002g0107 a0001c0001t0002g0108 others(5): Show a0001c0001t0002g0084 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0205 a0001c0001t0002g0228 a0001c0001t0007g0179 a0002c0003t0004g0082 a0003c0004t0016g0119	8	420	0.0191	-12	c.136 others(27): Show c.136-755_136-744delTGTGTGTGTGTG	SMIM8	ENSG00000111850.11	transcript	ENST00000392863.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMN1_chr5_70920087_70958015	70924610	TACACACA others(5): Show TACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	36	0.0278	-12	c.-49 others(21): Show c.-493_-482delACACACACACAC	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding		476		chr5	TogoVar
SMN2_chr5_70044669_70082595	70046392	CCTTTTTT others(5): Show CCTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0093 a0001c0003t0005g0093	1	108	0.0093	-12	c.-32 others(23): Show c.-3293_-3282delCTTTTTTTTTTT	SMN2	ENSG00000205571.15	transcript	ENST00000380743.9	protein_coding		3276		chr5	TogoVar
SMNDC1_chr10_110285730_110309920	110307641	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG02622.hp1 others(16): Show HG01243.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016	a0001c0001t0002g0010 a0001c0001t0002g0036 a0001c0001t0002g0086 others(4): Show a0001c0001t0002g0010 a0001c0001t0002g0036 a0001c0001t0002g0086 a0001c0001t0006g0007 a0001c0001t0006g0055 a0001c0001t0012g0020 a0001c0001t0016g0032	19	392	0.0485	-12	c.-29 others(23): Show c.-2906_-2895delAAAAAAAAAAAA	SMNDC1	ENSG00000119953.14	transcript	ENST00000369603.10	protein_coding		2722		chr10	TogoVar
SMNDC1_chr10_110285730_110309920	110308526	CTTTGTTT others(5): Show CTTTGTTTGTTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG03486.hp1 NA18983.hp1 HG00140.hp1 HG03486.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 a0001c0001t0001 a0001c0001t0003 a0001c0001t0033	a0001c0001t0001g0001 a0001c0001t0003g0002 a0001c0001t0033g0095 a0001c0001t0001g0001 a0001c0001t0003g0002 a0001c0001t0033g0095	3	392	0.0077	-12	c.-37 others(23): Show c.-3791_-3780delCAAACAAACAAA	SMNDC1	ENSG00000119953.14	transcript	ENST00000369603.10	protein_coding		3607		chr10	TogoVar
SMOC1_chr14_69874416_70037366	69878699	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 NA18950.hp1 NA19043.hp1 HG03579.hp1 NA18950.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0049 a0001c0001t0001g0263 a0001c0007t0001g0124 a0001c0001t0001g0049 a0001c0001t0001g0263 a0001c0007t0001g0124	3	270	0.0111	-12	c.-97 others(21): Show c.-979_-968delTGTGTGTGTGTG	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		716		chr14	TogoVar
SMOC1_chr14_69874416_70037366	69947087	GCCTTCCT others(5): Show GCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03579.hp2 HG01255.hp1 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0002 a0006c0010t0001 a0001c0002t0002 a0006c0010t0001	a0001c0002t0002g0244 a0006c0010t0001g0035 a0001c0002t0002g0244 a0006c0010t0001g0035	2	270	0.0074	-12	c.100 others(29): Show c.100-5020_100-5009delTTCCTTCCTTCC	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC1_chr14_69874416_70037366	69961270	GTGTATAT others(5): Show GTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp2 HG02559.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0015 a0001c0001t0016	a0001c0001t0015g0054 a0001c0001t0016g0078 a0001c0001t0015g0054 a0001c0001t0016g0078	2	270	0.0074	-12	c.378 others(29): Show c.378+7740_378+7751delGTATATATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC1_chr14_69874416_70037366	69961272	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp2 HG02886.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0098 a0001c0001t0003g0089 a0001c0001t0001g0098 a0001c0001t0003g0089	2	270	0.0074	-12	c.378 others(29): Show c.378+7776_378+7787delATATATATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168471319	TATATGTA others(5): Show TATATGTAGAATC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	180	0.0056	-12	c.84+ others(29): Show c.84+29868_84+29879delATGTAGAATCAT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168551423	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp2 others(37): Show HG00099.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG00738.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01952.hp1 HG01978.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02293.hp2 HG02735.hp2 HG03579.hp2 HG03654.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18951.hp1 NA18960.hp2 NA18963.hp1 NA19000.hp1 NA19065.hp2 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 a0001c0001 a0001c0002 a0003c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 a0003c0009t0003	a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0096 others(37): Show a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0004g0122 a0001c0001t0009g0161 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0038 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0008g0045 a0001c0002t0016g0046 a0003c0009t0003g0088	40	180	0.2222	-12	c.637 others(29): Show c.637+2256_637+2267delATTTATTTATTT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168600410	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00597.hp1 others(41): Show HG00099.hp2 HG00558.hp2 HG00597.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18941.hp2 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA19091.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0002t0007 a0001c0002t0013 a0001c0002t0014 a0001c0002t0016 a0001c0013t0002 a0002c0010t0001	a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0114 others(41): Show a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0107 a0001c0001t0003g0116 a0001c0001t0003g0149 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0006g0128 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0035 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0007g0053 a0001c0002t0013g0062 a0001c0002t0014g0005 a0001c0002t0016g0046 a0001c0013t0002g0033 a0002c0010t0001g0130	44	180	0.2444	-12	c.824 others(29): Show c.824+1432_824+1443delAAAAAAAAAACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results