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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPPL2B_chr19_2323684_2360095	2326310	TTTTGTGT others(13): Show TTTTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA19005.hp1 NA19010.hp2 NA18989.hp1 NA19005.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0277 a0001c0001t0002g0050 a0001c0001t0002g0277	3	375	0.0080	-20	c.-23 others(31): Show c.-2399_-2380delTTTGTGTGTGTGTGTGTGTG		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding					2373		chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2326312	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(71): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02148.hp2 HG02165.hp2 HG02293.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp2 NA18952.hp1 NA18959.hp1 NA18967.hp2 NA18970.hp2 NA18975.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19056.hp1 NA19060.hp2 NA19067.hp1 NA19081.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0025 a0001c0027 a0001c0032 a0002c0007 a0002c0008 a0002c0011 a0002c0014 a0011c0037	a0001c0001t0016 a0001c0003t0001 a0001c0003t0023 others(11): Show a0001c0001t0016 a0001c0003t0001 a0001c0003t0023 a0001c0003t0025 a0001c0004t0001 a0001c0025t0001 a0001c0027t0001 a0001c0032t0002 a0002c0007t0003 a0002c0008t0003 a0002c0011t0008 a0002c0011t0017 a0002c0014t0003 a0011c0037t0001	a0001c0001t0016g0293 a0001c0001t0016g0294 a0001c0003t0001g0001 others(55): Show a0001c0001t0016g0293 a0001c0001t0016g0294 a0001c0003t0001g0001 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0019 a0001c0003t0001g0043 a0001c0003t0001g0176 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0207 a0001c0003t0023g0191 a0001c0003t0025g0001 a0001c0004t0001g0194 a0001c0025t0001g0043 a0001c0027t0001g0178 a0001c0032t0002g0206 a0002c0007t0003g0042 a0002c0007t0003g0150 a0002c0007t0003g0153 a0002c0007t0003g0169 a0002c0007t0003g0173 a0002c0008t0003g0041 a0002c0008t0003g0152 a0002c0008t0003g0166 a0002c0008t0003g0167 a0002c0008t0003g0168 a0002c0011t0008g0160 a0002c0011t0008g0163 a0002c0011t0008g0170 a0002c0011t0008g0171 a0002c0011t0017g0162 a0002c0014t0003g0151 a0002c0014t0003g0164 a0002c0014t0003g0165 a0011c0037t0001g0205	74	113	0.6549	-20	c.-23 others(31): Show c.-2397_-2378delTGTGTGTGTGTGTGTGTGTG		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding					2371		chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2357420	TCATCCAT others(13): Show TCATCCATCCATCCATCCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02055.hp2 others(17): Show HG01109.hp2 HG01884.hp1 HG02055.hp2 HG02145.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0005t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0024	a0001c0001t0001g0121 a0001c0001t0002g0268 a0002c0005t0001g0003 others(8): Show a0001c0001t0001g0121 a0001c0001t0002g0268 a0002c0005t0001g0003 a0002c0005t0001g0147 a0002c0005t0003g0148 a0002c0005t0004g0003 a0002c0005t0004g0038 a0002c0005t0004g0039 a0002c0005t0004g0040 a0002c0005t0004g0159 a0002c0005t0024g0146	20	34	0.5882	-20	c.42 others(31): Show c.4212_*4231delCATCCATCCATCCATCCATC		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding					2326		chr19	TogoVar
SPPL3_chr12_120757510_120909358	120766098	GCGCACAC others(13): Show GCGCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18971.hp2 HG00099.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0003 a0001c0001t0032	a0001c0001t0003g0306 a0001c0001t0032g0256 a0001c0001t0003g0306 a0001c0001t0032g0256	2	110	0.0182	-20	c.108 others(37): Show c.1083+145_1083+164delTGTGTGTGTGTGTGTGTGCG		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	10/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120766100	GCACACAC others(13): Show GCACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03540.hp2 HG02896.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0020 a0001c0001t0019 a0001c0001t0020	a0001c0001t0019g0003 a0001c0001t0020g0002 a0001c0001t0019g0003 a0001c0001t0020g0002	2	187	0.0107	-20	c.108 others(37): Show c.1083+143_1083+162delTGTGTGTGTGTGTGTGTGTG		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	10/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120845858	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	99	0.0101	-20	c.24- others(37): Show c.24-34992_24-34973delGATAGATAGATAGATAGATA		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120876808	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0063 a0001c0001t0028g0063	1	28	0.0357	-20	c.23+ others(37): Show c.23+27017_23+27036delGTGTGTGTGTGTGTGTGTGT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPRED1_chr15_38247836_38362249	38251697	AACACACA others(13): Show AACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0344 a0001c0001t0004g0344	1	53	0.0189	-20	c.-14 others(31): Show c.-1488_-1469delACACACACACACACACACAC		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding					1138		chr15	TogoVar
SPRED1_chr15_38247836_38362249	38273519	TAATATAT others(13): Show TAATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02572.hp2 others(5): Show HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018	a0001c0001t0009g0316 a0001c0001t0010g0086 a0001c0001t0010g0215 others(5): Show a0001c0001t0009g0316 a0001c0001t0010g0086 a0001c0001t0010g0215 a0001c0001t0010g0216 a0001c0001t0010g0217 a0001c0001t0010g0218 a0001c0001t0018g0314 a0001c0001t0018g0315	8	367	0.0218	-20	c.32+ others(37): Show c.32+20303_32+20322delAATATATATATATATATATA		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	1/6						chr15	TogoVar
SPRED1_chr15_38247836_38362249	38273520	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(130): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18995.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0041 a0001c0001t0046	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(126): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0090 a0001c0001t0005g0178 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0362 a0001c0001t0007g0203 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0007g0207 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0007g0220 a0001c0001t0011g0097 a0001c0001t0011g0098 a0001c0001t0011g0099 a0001c0001t0011g0101 a0001c0001t0016g0357 a0001c0001t0016g0358 a0001c0001t0016g0359 a0001c0001t0017g0122 a0001c0001t0017g0123 a0001c0001t0017g0124 a0001c0001t0030g0179 a0001c0001t0033g0198 a0001c0001t0034g0177 a0001c0001t0035g0096 a0001c0001t0041g0100 a0001c0001t0046g0017	133	157	0.8471	-20	c.32+ others(37): Show c.32+20322_32+20341delATATATATATATATATATAT		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED2_chr2_65305851_65437599	65310458	TACACACA others(13): Show TACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02258.hp1 HG02886.hp2 HG01167.hp2 HG02258.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0021g0266 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0021g0266	3	84	0.0357	-20	c.30 others(31): Show c.3023_*3042delGTGTGTGTGTGTGTGTGTGT		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding					392		chr2	TogoVar
SPRED2_chr2_65305851_65437599	65360080	AAAAAAAA others(13): Show AAAAAAAAACAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0095 a0001c0002t0017g0095	1	274	0.0036	-20	c.27- others(37): Show c.27-15204_27-15185delGTTTTTTTTTTGTTTTTTTT		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5						chr2	TogoVar
SPRING1_chr12_116705171_116743069	116739268	TGAAAGGT others(13): Show TGAAAGGTGGGACAGGGAGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	360	0.0028	-20	c.-13 others(31): Show c.-1388_-1369delTGCTCCCTGTCCCACCTTTC		SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding					1200		chr12	TogoVar
SPRR5_chr1_152942206_152954255	152944624	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00597.hp2 others(122): Show HG00408.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03516.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0011	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0007 a0011c0011	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0003c0003t0001 a0003c0003t0003 a0005c0005t0001 a0006c0007t0001 a0011c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0003g0001 a0001c0001t0003g0002 a0002c0002t0002g0001 a0003c0003t0001g0002 a0003c0003t0003g0002 a0005c0005t0001g0002 a0006c0007t0001g0004 a0011c0011t0001g0019	125	434	0.2880	-20	c.-26 others(31): Show c.-2642_-2623delGTGTGTGTGTGTGTGTGTGC		SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding					2581		chr1	TogoVar
SPRR5_chr1_152942206_152954255	152948602	CCCCCCAC others(13): Show CCCCCCACCCCAGCAGCGCTG	C C	frameshift_variant frameshift_variant	HIGH	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	428	0.0023	-20	c.54_ others(25): Show c.54_73delACCCCAGCAGCGCTGCCCCC	p.Pro others(4): Show p.Pro19fs	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding	2/2	115/762	54/327	18/108		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPRR5_chr1_152942206_152954255	152948623	CCCCCCAC others(13): Show CCCCCCACCCCAGCAGTGCTG	C C	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 NA19067.hp2 HG01099.hp1 NA19067.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0001 a0008c0009t0002g0001	2	434	0.0046	-20	c.75_ others(25): Show c.75_94delACCCCAGCAGTGCTGCCCCC	p.Pro others(4): Show p.Pro26fs	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding	2/2	136/762	75/327	25/108		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359053	ATTATATA others(13): Show ATTATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0013 a0002c0002t0006g0013	1	343	0.0029	-20	c.56 others(31): Show c.5693_*5712delTTATATATATATATATATAT		SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding					4031		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359054	TTATATAT others(13): Show TTATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(30): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG01123.hp1 HG01175.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02074.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02647.hp2 HG02735.hp2 HG03209.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 NA18612.hp2 NA18939.hp2 NA18951.hp2 NA18965.hp2 NA18989.hp1 NA18997.hp1 NA19007.hp1 NA19030.hp2 NA19065.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0004c0006t0008	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0009 others(19): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0074 a0001c0001t0003g0096 a0001c0001t0003g0101 a0001c0001t0003g0119 a0002c0002t0001g0005 a0002c0002t0001g0055 a0004c0006t0008g0040	33	62	0.5323	-20	c.56 others(31): Show c.5694_*5713delTATATATATATATATATATA		SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding					4032		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359091	TATATATA others(13): Show TATATATATATATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03579.hp1 HG02622.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0018 a0002c0002t0004g0042 a0002c0002t0004g0018 a0002c0002t0004g0042	2	349	0.0057	-20	c.57 others(31): Show c.5731_*5750delATATATATATATATATATAA		SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding					4069		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0050 a0001c0001t0041g0050	1	9	0.1111	-20	c.-28 others(41): Show c.-282+25703_-282+25722delATATATATATATATATATAT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155751924	GAAATAAA others(13): Show GAAATAAAATAAAATAAAATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01081.hp1 others(69): Show HG00673.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01192.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04228.hp1 HG06807.hp2 NA18943.hp1 NA18944.hp1 NA18959.hp1 NA18961.hp1 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0049 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0064 a0001c0001t0070 a0001c0001t0078 a0001c0001t0080 a0001c0001t0083 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0001c0001t0092 a0001c0001t0098 a0001c0001t0104 a0001c0001t0107 a0001c0001t0110 a0001c0001t0112 a0001c0001t0114 a0001c0001t0116 a0001c0001t0124 a0001c0001t0126 a0001c0001t0132 a0001c0001t0134 a0001c0002t0032 a0001c0002t0054 a0001c0002t0085 a0001c0002t0118 a0001c0002t0135 a0002c0003t0030 a0002c0003t0115 a0003c0005t0048	a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0002g0195 others(68): Show a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0002g0195 a0001c0001t0003g0072 a0001c0001t0003g0105 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0004g0065 a0001c0001t0005g0066 a0001c0001t0005g0091 a0001c0001t0007g0088 a0001c0001t0009g0147 a0001c0001t0009g0180 a0001c0001t0009g0191 a0001c0001t0009g0206 a0001c0001t0010g0002 a0001c0001t0013g0042 a0001c0001t0013g0043 a0001c0001t0013g0044 a0001c0001t0014g0172 a0001c0001t0014g0177 a0001c0001t0014g0179 a0001c0001t0016g0095 a0001c0001t0021g0069 a0001c0001t0023g0058 a0001c0001t0023g0061 a0001c0001t0024g0001 a0001c0001t0026g0049 a0001c0001t0027g0090 a0001c0001t0028g0053 a0001c0001t0029g0178 a0001c0001t0029g0188 a0001c0001t0034g0025 a0001c0001t0039g0097 a0001c0001t0040g0096 a0001c0001t0042g0092 a0001c0001t0049g0041 a0001c0001t0053g0080 a0001c0001t0055g0055 a0001c0001t0057g0021 a0001c0001t0059g0175 a0001c0001t0064g0067 a0001c0001t0070g0030 a0001c0001t0078g0089 a0001c0001t0080g0028 a0001c0001t0083g0109 a0001c0001t0086g0045 a0001c0001t0087g0046 a0001c0001t0088g0204 a0001c0001t0090g0073 a0001c0001t0092g0016 a0001c0001t0098g0094 a0001c0001t0104g0153 a0001c0001t0107g0063 a0001c0001t0110g0023 a0001c0001t0112g0099 a0001c0001t0114g0062 a0001c0001t0116g0216 a0001c0001t0124g0146 a0001c0001t0126g0138 a0001c0001t0132g0013 a0001c0001t0134g0064 a0001c0002t0032g0068 a0001c0002t0032g0070 a0001c0002t0054g0117 a0001c0002t0085g0019 a0001c0002t0118g0011 a0001c0002t0135g0018 a0002c0003t0030g0144 a0002c0003t0115g0156 a0003c0005t0048g0219	72	99	0.7273	-20	c.-28 others(41): Show c.-281-15995_-281-15976delATAAAATAAAATAAAATAAA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB1_chr1_9287894_9374532	9295197	TGTGTGTG others(13): Show TGTGTGTGTGTGAGAGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00733.hp2 others(19): Show HG00280.hp1 HG00408.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01361.hp1 HG01496.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG02735.hp2 HG03669.hp1 HG03831.hp2 HG04115.hp1 NA18612.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0002t0001 a0001c0002t0007 a0001c0002t0019 a0001c0003t0003 a0001c0003t0012 a0001c0003t0018	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 others(18): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0003g0012 a0001c0001t0015g0014 a0001c0001t0015g0025 a0001c0002t0001g0016 a0001c0002t0007g0008 a0001c0002t0007g0023 a0001c0002t0007g0026 a0001c0002t0007g0037 a0001c0002t0019g0015 a0001c0003t0003g0001 a0001c0003t0003g0009 a0001c0003t0012g0020 a0001c0003t0018g0017	22	368	0.0598	-20	c.-15 others(39): Show c.-150+2138_-150+2157delAGAGTGTGAGTGTGTGTGTG		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9309291	AGAGAGAG others(13): Show AGAGAGAGAGAGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02622.hp1 others(4): Show HG01256.hp1 HG01258.hp2 HG02622.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0011 a0001c0001t0035 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0035 a0001c0003t0002	a0001c0001t0001g0139 a0001c0001t0011g0199 a0001c0001t0035g0217 others(3): Show a0001c0001t0001g0139 a0001c0001t0011g0199 a0001c0001t0035g0217 a0001c0003t0002g0002 a0001c0003t0002g0270 a0001c0003t0002g0276	7	358	0.0196	-20	c.-15 others(41): Show c.-150+16222_-150+16241delAGAGAGAGAGTGTGTGTGTG		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB4_chr3_141046347_141153611	141071270	GCAGGCGG others(13): Show GCAGGCGGCAGGAGGGCTGAC	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18959.hp1 NA18972.hp2 others(2): Show NA18941.hp1 NA18959.hp1 NA18972.hp2 NA18986.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0066 others(2): Show a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0006g0064	5	252	0.0198	-20	c.694 others(37): Show c.694+4473_694+4492delCAGGCGGCAGGAGGGCTGAC		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2						chr3	TogoVar
SPSB4_chr3_141046347_141153611	141151357	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01243.hp2 HG02559.hp1 others(5): Show HG00738.hp2 HG01243.hp2 HG02559.hp1 HG02559.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0051 a0001c0001t0056 others(2): Show a0001c0001t0006 a0001c0001t0051 a0001c0001t0056 a0001c0002t0001 a0001c0002t0008	a0001c0001t0006g0017 a0001c0001t0051g0233 a0001c0001t0056g0161 others(5): Show a0001c0001t0006g0017 a0001c0001t0051g0233 a0001c0001t0056g0161 a0001c0002t0001g0051 a0001c0002t0008g0223 a0001c0002t0008g0224 a0001c0002t0008g0226 a0001c0002t0008g0229	8	251	0.0319	-20	c.40 others(31): Show c.4089_*4108delGTGTGTGTGTGTGTGTGTGC		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding					2747		chr3	TogoVar
SPSB4_chr3_141046347_141153611	141151359	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0089 a0001c0002t0021g0089	1	241	0.0041	-20	c.40 others(31): Show c.4091_*4110delGTGTGTGTGTGTGTGTGCGC		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding					2749		chr3	TogoVar
SPTAN1_chr9_128547587_128638662	128562983	CATGTATG others(13): Show CATGTATGTGTATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp2 HG01258.hp2 others(29): Show HG00735.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG02074.hp2 HG02083.hp1 HG02155.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03540.hp2 HG06807.hp2 NA18942.hp2 NA18948.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18977.hp1 NA18986.hp1 NA18994.hp1 NA19010.hp1 NA19012.hp1 NA19063.hp1 NA19066.hp2 NA19074.hp1 NA19083.hp1 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 others(1): Show a0001c0001 a0001c0003 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0046 others(28): Show a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0007g0065 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0095 a0001c0003t0001g0116 a0001c0003t0001g0118 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0129 a0001c0003t0001g0134 a0001c0003t0001g0140 a0001c0003t0001g0148 a0001c0012t0001g0001 a0001c0012t0001g0124 a0001c0013t0001g0161	32	188	0.1702	-20	c.-3- others(35): Show c.-3-3752_-3-3733delGTATGTGTATATATATATAT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	251	0.0040	-20	c.-48 others(39): Show c.-48+10070_-48+10089delAAAAAAAAAAAAAAAAAAAA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54571556	CACACACA others(13): Show CACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 HG03540.hp2 HG02055.hp2 HG02818.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0018 a0001c0005t0031 a0001c0001t0018 a0001c0005t0031	a0001c0001t0018g0189 a0001c0001t0018g0303 a0001c0005t0031g0182 a0001c0001t0018g0189 a0001c0001t0018g0303 a0001c0005t0031g0182	3	368	0.0082	-20	c.149 others(39): Show c.149-27516_149-27497delTACACACACACACACACACA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54640597	GCTGGAAT others(13): Show GCTGGAATACAGTGGTGGGAT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0340 a0001c0001t0005g0340	1	368	0.0027	-20	c.385 others(39): Show c.3859-2383_3859-2364delGGAATACAGTGGTGGGATCT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	18/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN2_chr11_66677497_66734216	66728353	GGCGGCGG others(13): Show GGCGGCGGCGCGCGGGCGCGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0037 a0001c0001t0034g0037	1	326	0.0031	-20	c.-11 others(37): Show c.-114+368_-114+387delTCGCGCCCGCGCGCCGCCGC		SPTBN2	ENSG00000173898.15	transcript	ENST00000533211.6	protein_coding	1/37						chr11	TogoVar
SPTBN4_chr19_40462001_40581464	40515930	CACACATA others(13): Show CACACATATATACGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01516.hp1 others(15): Show HG00741.hp2 HG01074.hp2 HG01516.hp1 HG02132.hp1 HG02258.hp2 HG02602.hp1 HG02809.hp2 HG02886.hp1 HG03041.hp2 HG03225.hp2 HG03471.hp2 HG03942.hp2 HG04204.hp1 NA18967.hp2 NA18999.hp1 NA19010.hp2 NA19081.hp2 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0010 a0022	a0001c0001 a0001c0017 a0002c0004 others(5): Show a0001c0001 a0001c0017 a0002c0004 a0002c0034 a0004c0007 a0006c0039 a0010c0032 a0022c0037	a0001c0001t0001 a0001c0017t0001 a0002c0004t0001 others(5): Show a0001c0001t0001 a0001c0017t0001 a0002c0004t0001 a0002c0034t0001 a0004c0007t0001 a0006c0039t0001 a0010c0032t0001 a0022c0037t0001	a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0063 others(15): Show a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0133 a0001c0001t0001g0159 a0001c0001t0001g0227 a0001c0017t0001g0074 a0001c0017t0001g0127 a0002c0004t0001g0040 a0002c0004t0001g0050 a0002c0004t0001g0200 a0002c0004t0001g0226 a0002c0034t0001g0157 a0004c0007t0001g0173 a0004c0007t0001g0188 a0006c0039t0001g0119 a0010c0032t0001g0006 a0022c0037t0001g0075	18	232	0.0776	-20	c.290 others(37): Show c.2903+548_2903+567delTATATACGTATATATACACA		SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	15/35					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40569955	CACACACA others(13): Show CACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0080 a0001c0010t0008g0080	1	232	0.0043	-20	c.702 others(37): Show c.7026+243_7026+262delCACACAGACACACACACACA		SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40569969	CACACAGA others(13): Show CACACAGACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0017 a0017	a0017c0052 a0017c0052	a0017c0052t0001 a0017c0052t0001	a0017c0052t0001g0125 a0017c0052t0001g0125	1	231	0.0043	-20	c.702 others(37): Show c.7026+249_7026+268delGACACACACACACAGACACA		SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40577948	TACACACA others(13): Show TACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0142 a0008c0013t0001g0142	1	70	0.0143	-20	c.23 others(31): Show c.2380_*2399delACACACACACACACACACAC		SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding					1485		chr19	TogoVar
SPTB_chr14_64741283_64884907	64759229	AAGGCAGG others(13): Show AAGGCAGGGAGCCAAGTAGCT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp2 HG01261.hp2 others(33): Show HG01106.hp2 HG01175.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01891.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03834.hp2 NA18951.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0007 a0012 a0013 a0015 a0024	a0001c0001 a0002c0003 a0002c0005 others(14): Show a0001c0001 a0002c0003 a0002c0005 a0002c0006 a0002c0013 a0002c0023 a0002c0026 a0002c0078 a0002c0081 a0003c0047 a0006c0016 a0006c0029 a0007c0018 a0012c0025 a0013c0075 a0015c0067 a0024c0046	a0001c0001t0005 a0002c0003t0005 a0002c0003t0006 others(23): Show a0001c0001t0005 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0003t0014 a0002c0003t0020 a0002c0003t0027 a0002c0003t0034 a0002c0005t0004 a0002c0005t0009 a0002c0006t0005 a0002c0006t0008 a0002c0013t0001 a0002c0013t0005 a0002c0023t0010 a0002c0026t0018 a0002c0078t0014 a0002c0081t0001 a0003c0047t0031 a0006c0016t0005 a0006c0029t0001 a0007c0018t0005 a0012c0025t0008 a0013c0075t0003 a0015c0067t0010 a0024c0046t0016	a0001c0001t0005g0261 a0002c0003t0005g0105 a0002c0003t0005g0110 others(33): Show a0001c0001t0005g0261 a0002c0003t0005g0105 a0002c0003t0005g0110 a0002c0003t0005g0220 a0002c0003t0006g0153 a0002c0003t0008g0118 a0002c0003t0008g0121 a0002c0003t0014g0112 a0002c0003t0014g0116 a0002c0003t0014g0117 a0002c0003t0020g0193 a0002c0003t0027g0019 a0002c0003t0034g0060 a0002c0005t0004g0131 a0002c0005t0009g0017 a0002c0006t0005g0158 a0002c0006t0008g0052 a0002c0013t0001g0059 a0002c0013t0001g0230 a0002c0013t0005g0137 a0002c0013t0005g0142 a0002c0023t0010g0030 a0002c0023t0010g0106 a0002c0026t0018g0066 a0002c0026t0018g0067 a0002c0078t0014g0200 a0002c0081t0001g0177 a0003c0047t0031g0260 a0006c0016t0005g0202 a0006c0029t0001g0157 a0007c0018t0005g0167 a0012c0025t0008g0119 a0012c0025t0008g0120 a0013c0075t0003g0176 a0015c0067t0010g0133 a0024c0046t0016g0178	36	266	0.1353	-20	c.634 others(39): Show c.6346-5456_6346-5437delAGCTACTTGGCTCCCTGCCT		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	32/35						chr14	TogoVar
SPTB_chr14_64741283_64884907	64768684	ACCCCTCC others(13): Show ACCCCTCCCCCAGGCCCCCAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01074.hp1 others(12): Show HG00438.hp1 HG00597.hp1 HG01074.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG04199.hp2 NA18747.hp1 NA18960.hp1 NA18983.hp2 NA18995.hp1 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0007 a0003c0030 others(2): Show a0001c0001 a0002c0007 a0003c0030 a0004c0008 a0004c0024	a0001c0001t0001 a0001c0001t0006 a0002c0007t0001 others(6): Show a0001c0001t0001 a0001c0001t0006 a0002c0007t0001 a0003c0030t0012 a0004c0008t0001 a0004c0008t0002 a0004c0008t0003 a0004c0024t0001 a0004c0024t0003	a0001c0001t0001g0065 a0001c0001t0006g0002 a0002c0007t0001g0085 others(12): Show a0001c0001t0001g0065 a0001c0001t0006g0002 a0002c0007t0001g0085 a0002c0007t0001g0249 a0002c0007t0001g0255 a0003c0030t0012g0164 a0003c0030t0012g0168 a0004c0008t0001g0036 a0004c0008t0001g0083 a0004c0008t0001g0088 a0004c0008t0001g0097 a0004c0008t0002g0038 a0004c0008t0003g0095 a0004c0024t0001g0024 a0004c0024t0003g0023	15	266	0.0564	-20	c.602 others(37): Show c.6022+330_6022+349delCTGGGGGCCTGGGGGAGGGG		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	29/35						chr14	TogoVar
SPTB_chr14_64741283_64884907	64884184	AGCTACAC others(13): Show AGCTACACCAACTTGCTTGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0004 a0004c0008t0001g0004	1	266	0.0038	-20	c.-44 others(31): Show c.-4464_-4445delGCCAAGCAAGTTGGTGTAGC		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding					4278		chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534164	TTTCTCTC others(13): Show TTTCTCTCTCTCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG03195.hp2 others(2): Show HG02572.hp1 HG02615.hp1 HG03195.hp2 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0020 a0001c0002t0005 a0001c0002t0020	a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 others(2): Show a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0020g0002	5	241	0.0207	-20	c.130 others(41): Show c.1304-12603_1304-12584delTGTGTGAGAGAGAGAGAGAA		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11						chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77564400	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(46): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01346.hp1 HG01496.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02165.hp2 HG02293.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02717.hp1 HG02738.hp2 HG03225.hp2 HG03239.hp1 HG03540.hp1 HG04115.hp2 HG04204.hp1 NA18906.hp1 NA18945.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18966.hp1 NA18968.hp1 NA18981.hp2 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19010.hp1 NA19030.hp2 NA19081.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0044 a0001c0001t0050 a0001c0005t0007 a0001c0005t0037 a0001c0005t0038 a0001c0008t0033	a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0030 others(46): Show a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0229 a0001c0001t0002g0071 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0014g0099 a0001c0001t0015g0130 a0001c0001t0031g0043 a0001c0001t0032g0205 a0001c0001t0034g0090 a0001c0001t0036g0083 a0001c0001t0044g0047 a0001c0001t0050g0237 a0001c0005t0007g0242 a0001c0005t0037g0055 a0001c0005t0038g0138 a0001c0008t0033g0049	49	65	0.7538	-20	c.757 others(37): Show c.757-1931_757-1912delGTGTGTGTGTGTGTGTGTGT		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11						chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34462922	ACACACAC others(13): Show ACACACACACACACACACACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	342	0.0029	-20	c.-73 others(29): Show c.-735_-716delGGTGTGTGTGTGTGTGTGTG		SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding					683		chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161348251	GCAAAACA others(13): Show GCAAAACAAAACAAAACAAAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01255.hp2 HG01975.hp1 others(2): Show HG01074.hp2 HG01255.hp2 HG01975.hp1 HG03669.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0004g0198 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0004g0198 a0001c0001t0004g0199	5	145	0.0345	-20	c.-32 others(37): Show c.-32-1916_-32-1897delTTTTGTTTTGTTTTGTTTTG		SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	2/2						chr3	TogoVar
SPTY2D1_chr11_18601403_18639342	18611399	CAATGGTG others(13): Show CAATGGTGCAATTGTAGCAAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02257.hp1 others(6): Show HG01243.hp1 HG01891.hp1 HG02257.hp1 HG02486.hp2 HG02723.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0287 a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0287	9	442	0.0204	-20	c.196 others(35): Show c.1964+58_1964+77delATTGCTACAATTGCACCATT		SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	5/5						chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18621323	CAGAAAAG others(13): Show CAGAAAAGAAAAGAAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG02572.hp1 others(4): Show HG00408.hp1 HG00558.hp2 HG02572.hp1 HG03486.hp2 NA18747.hp1 NA18963.hp2 NA18974.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0011 a0002c0003t0001 a0001c0001t0001 a0001c0001t0011 a0002c0003t0001	a0001c0001t0001g0309 a0001c0001t0011g0250 a0002c0003t0001g0079 others(4): Show a0001c0001t0001g0309 a0001c0001t0011g0250 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0097	7	77	0.0909	-20	c.61- others(35): Show c.61-4354_61-4335delTTTCTTTTCTTTTCTTTTCT		SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5						chr11	TogoVar
SQOR_chr15_45630029_45696281	45694004	GTGTAATA others(13): Show GTGTAATAACAGAGCTGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03130.hp1 NA18906.hp2 HG02257.hp1 HG03130.hp1 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0095 a0001c0001t0001g0149 a0005c0008t0001g0326 a0001c0001t0001g0095 a0001c0001t0001g0149 a0005c0008t0001g0326	3	338	0.0089	-20	c.29 others(31): Show c.2975_*2994delTGTAATAACAGAGCTGAGGT		SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding					2724		chr15	TogoVar
SRBD1_chr2_45383680_45616267	45415642	AGGAGGGG others(13): Show AGGAGGGGAGGGGAGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0230 a0002c0002t0001g0230	1	279	0.0036	-20	c.233 others(39): Show c.2334-2369_2334-2350delCCTCCCCTCCCCTCCCCTCC		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20						chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415738	CGAGAGGA others(13): Show CGAGAGGAGACGAGAGGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03225.hp2 HG02895.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0012 a0002c0002t0001g0016	2	287	0.0070	-20	c.233 others(39): Show c.2334-2465_2334-2446delCTCTCCTCTCGTCTCCTCTC		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20						chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415748	CGAGAGGA others(13): Show CGAGAGGAGAGGAGAGGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp2 HG02280.hp1 others(4): Show HG01192.hp2 HG01346.hp2 HG02280.hp1 HG03831.hp1 HG03834.hp2 NA18950.hp1 NA19082.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0015 a0001c0001 a0007c0015	a0001c0001t0001 a0007c0015t0001 a0001c0001t0001 a0007c0015t0001	a0001c0001t0001g0237 a0001c0001t0001g0253 a0001c0001t0001g0259 others(4): Show a0001c0001t0001g0237 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0321 a0001c0001t0001g0328 a0007c0015t0001g0343	7	189	0.0370	-20	c.233 others(39): Show c.2334-2475_2334-2456delCTCTCCTCTCCTCTCCTCTC		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20						chr2	TogoVar
SRBD1_chr2_45383680_45616267	45421506	CAAACAAA others(13): Show CAAACAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	163	0.0061	-20	c.205 others(39): Show c.2050-1632_2050-1613delTTTTTTTTTTTTTTTTGTTT		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20						chr2	TogoVar
SRBD1_chr2_45383680_45616267	45449885	TGCTTCAT others(13): Show TGCTTCATAAGGGTGATCAGG	T T	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18944.hp2 NA18948.hp1 others(7): Show NA18940.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18987.hp1 NA18994.hp2 NA19012.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 a0001c0001 a0002c0004 a0003c0003	a0001c0001t0001 a0002c0004t0001 a0003c0003t0001 a0001c0001t0001 a0002c0004t0001 a0003c0003t0001	a0001c0001t0001g0064 a0002c0004t0001g0076 a0003c0003t0001g0060 others(7): Show a0001c0001t0001g0064 a0002c0004t0001g0076 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0114	10	356	0.0281	-20	c.204 others(41): Show c.2049+27088_2049+27107delCCTGATCACCCTTATGAAGC		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20						chr2	TogoVar

Search by Variant

Search

Search Results