Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SCN9A_chr2_166190185_166380944	166340533	TTTCTTTC others(6): Show TTTCTTTCCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18946.hp2 HG01099.hp1 NA18946.hp2	a0003 a0006 a0003 a0006	a0003c0053 a0006c0010 a0003c0053 a0006c0010	a0003c0053t0003 a0006c0010t0002 a0003c0053t0003 a0006c0010t0002	a0003c0053t0003g0127 a0006c0010t0002g0113 a0003c0053t0003g0127 a0006c0010t0002g0113	2	296	0.0068	-13	c.-50 others(32): Show c.-50-28740_-50-28728delGAAAGGGAAAGAA		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26						chr2	TogoVar
SCN9A_chr2_166190185_166380944	166340607	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp1 HG01106.hp1 others(28): Show HG00597.hp2 HG01099.hp1 HG01106.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03453.hp1 HG03516.hp1 NA18906.hp1 NA18946.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18977.hp1 NA19005.hp1 NA19011.hp2 NA19062.hp1 NA19082.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0015 a0023	a0001c0002 a0001c0003 a0001c0005 others(12): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0012 a0001c0016 a0001c0026 a0002c0036 a0003c0021 a0003c0053 a0004c0008 a0005c0027 a0006c0010 a0015c0046 a0023c0048	a0001c0002t0001 a0001c0002t0010 a0001c0002t0016 others(23): Show a0001c0002t0001 a0001c0002t0010 a0001c0002t0016 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0005t0002 a0001c0007t0001 a0001c0007t0005 a0001c0012t0014 a0001c0016t0001 a0001c0026t0008 a0002c0036t0007 a0003c0021t0003 a0003c0053t0003 a0004c0008t0001 a0004c0008t0011 a0004c0008t0022 a0005c0027t0020 a0006c0010t0001 a0006c0010t0002 a0015c0046t0005 a0023c0048t0005	a0001c0002t0001g0123 a0001c0002t0001g0175 a0001c0002t0001g0195 others(28): Show a0001c0002t0001g0123 a0001c0002t0001g0175 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0200 a0001c0002t0010g0007 a0001c0002t0016g0199 a0001c0002t0021g0011 a0001c0003t0001g0162 a0001c0003t0002g0205 a0001c0003t0010g0006 a0001c0003t0014g0009 a0001c0003t0015g0063 a0001c0005t0002g0074 a0001c0007t0001g0030 a0001c0007t0005g0073 a0001c0012t0014g0005 a0001c0016t0001g0130 a0001c0026t0008g0122 a0002c0036t0007g0240 a0003c0021t0003g0159 a0003c0053t0003g0127 a0004c0008t0001g0198 a0004c0008t0001g0204 a0004c0008t0011g0206 a0004c0008t0022g0010 a0005c0027t0020g0004 a0006c0010t0001g0112 a0006c0010t0002g0113 a0015c0046t0005g0197 a0023c0048t0005g0072	31	296	0.1047	-13	c.-50 others(32): Show c.-50-28814_-50-28802delGAAAGAAAGAAAG		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26						chr2	TogoVar
SCNN1A_chr12_6341847_6380563	6379935	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02895.hp1 NA21309.hp1 HG02630.hp1 HG02895.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0347 a0001c0001t0001g0348 a0003c0003t0001g0349 a0001c0001t0001g0347 a0001c0001t0001g0348 a0003c0003t0001g0349	3	454	0.0066	-13	c.-44 others(24): Show c.-4498_-4486delGTTTTTTTTTTTT		SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding					4373		chr12	TogoVar
SCNN1B_chr16_23297302_23386294	23305524	AATATATA others(6): Show AATATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01099.hp1 others(19): Show HG00735.hp2 HG00738.hp2 HG01099.hp1 HG01243.hp2 HG01515.hp2 HG01884.hp1 HG02027.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp1 NA19063.hp1 NA19065.hp1 NA19083.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0054 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0002t0001g0008 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0003t0001g0113 a0001c0009t0001g0059 a0002c0004t0001g0058	22	306	0.0719	-13	c.-9+ others(28): Show c.-9+3098_-9+3110delTATATATATATAT		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23346200	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(73): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01243.hp2 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG02004.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03704.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18961.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp1 NA19009.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0014 others(1): Show a0001c0001 a0001c0003 a0001c0014 a0003c0005	a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 a0003c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(73): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0003t0001g0103 a0001c0003t0001g0139 a0001c0003t0001g0200 a0001c0003t0001g0249 a0001c0014t0001g0196 a0003c0005t0001g0004	76	306	0.2484	-13	c.-8- others(28): Show c.-8-2375_-8-2363delTTTTTTTTTTTTT		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289846	TGTCCGTC others(6): Show TGTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(24): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG01069.hp2 HG01109.hp1 HG01361.hp2 HG02004.hp2 HG02071.hp2 HG02074.hp1 HG03195.hp2 HG03490.hp2 HG03540.hp1 HG03942.hp2 NA18954.hp1 NA18960.hp2 NA18971.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19056.hp1 NA19070.hp1 NA19072.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0008 a0012 a0015 a0017 a0027 a0030	a0001c0001 a0002c0002 a0002c0003 others(8): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0008 a0008c0007 a0012c0063 a0015c0055 a0017c0034 a0027c0036 a0030c0053	a0001c0001t0001 a0002c0002t0001 a0002c0002t0013 others(9): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0013 a0002c0003t0001 a0003c0004t0003 a0004c0008t0001 a0008c0007t0004 a0012c0063t0001 a0015c0055t0001 a0017c0034t0001 a0027c0036t0001 a0030c0053t0002	a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0189 others(24): Show a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0201 a0002c0002t0001g0016 a0002c0002t0001g0025 a0002c0002t0001g0036 a0002c0002t0001g0053 a0002c0002t0001g0058 a0002c0002t0001g0077 a0002c0002t0001g0087 a0002c0002t0013g0075 a0002c0003t0001g0060 a0003c0004t0003g0134 a0003c0004t0003g0139 a0003c0004t0003g0141 a0003c0004t0003g0142 a0003c0004t0003g0149 a0003c0004t0003g0150 a0003c0004t0003g0253 a0004c0008t0001g0241 a0008c0007t0004g0287 a0012c0063t0001g0011 a0015c0055t0001g0129 a0017c0034t0001g0003 a0027c0036t0001g0014 a0030c0053t0002g0136	27	290	0.0931	-13	c.166 others(30): Show c.1663-421_1663-409delCGTCCCCCGAGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289850	CGTCCCCC others(6): Show CGTCCCCCGAGTCT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	290	0.0035	-13	c.166 others(30): Show c.1663-420_1663-408delGTCCCCCGAGTCT		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17						chr1	TogoVar
SCO1_chr17_10667474_10702533	10686193	GATCGCAC others(6): Show GATCGCACCACTGC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0147 a0001c0001t0027g0147	1	416	0.0024	-13	c.771 others(28): Show c.771+521_771+533delGCAGTGGTGCGAT		SCO1	ENSG00000133028.12	transcript	ENST00000255390.10	protein_coding	5/5						chr17	TogoVar
SCP2_chr1_52922276_53056698	52934592	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp1 NA19054.hp2 HG03139.hp1 NA18906.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0189 a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0001t0001g0189 a0001c0002t0006g0045 a0001c0002t0006g0046	3	280	0.0107	-13	c.69+ others(28): Show c.69+7153_69+7165delTTTTTTTTTTTTT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53013882	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01175.hp1 others(24): Show HG00642.hp2 HG00735.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01433.hp2 HG01993.hp2 HG02056.hp2 HG02257.hp2 HG02258.hp1 HG02630.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp2 HG04199.hp1 NA18522.hp2 NA18906.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18989.hp1 NA19005.hp1 NA19063.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 a0001c0003 a0001c0004 a0001c0006	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(3): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0001 a0001c0004t0013 a0001c0006t0001	a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0004 others(24): Show a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0013 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0003t0001g0025 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0084 a0001c0003t0001g0168 a0001c0003t0001g0212 a0001c0003t0001g0222 a0001c0003t0001g0231 a0001c0003t0001g0271 a0001c0003t0002g0003 a0001c0003t0004g0132 a0001c0004t0001g0144 a0001c0004t0013g0269 a0001c0006t0001g0029 a0001c0006t0001g0030	27	280	0.0964	-13	c.108 others(30): Show c.1082-989_1082-977delTTTTTTTTTTTTT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53051586	GAAAATTA others(6): Show GAAAATTAAAATAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0039 a0001c0001t0014g0039	1	280	0.0036	-13	c.88 others(22): Show c.883_*895delAAAATTAAAATAA		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	16/16				883		chr1	TogoVar
SCRN3_chr2_174390730_174434575	174427852	TTCAAATT others(6): Show TTCAAATTTATCAG	T T	frameshift_variant frameshift_variant	HIGH	HG00323.hp2 HG00558.hp1 HG00639.hp2 others(85): Show HG00323.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18954.hp2 NA18955.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19076.hp2 NA19080.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0002c0004 a0009c0008 a0002c0002 a0002c0004 a0009c0008	a0002c0002t0002 a0002c0002t0004 a0002c0002t0012 others(2): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0012 a0002c0004t0002 a0009c0008t0002	a0002c0002t0002g0002 a0002c0002t0002g0009 a0002c0002t0002g0010 others(47): Show a0002c0002t0002g0002 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0023 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0059 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0004g0006 a0002c0002t0004g0024 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0002t0004g0064 a0002c0002t0004g0065 a0002c0002t0004g0069 a0002c0002t0004g0070 a0002c0002t0004g0086 a0002c0002t0012g0010 a0002c0004t0002g0011 a0002c0004t0002g0025 a0002c0004t0002g0071 a0002c0004t0002g0073 a0002c0004t0002g0074 a0002c0004t0002g0075 a0002c0004t0002g0076 a0002c0004t0002g0077 a0002c0004t0002g0078 a0002c0004t0002g0079 a0002c0004t0002g0081 a0009c0008t0002g0146	88	364	0.2418	-13	c.125 others(22): Show c.1251_1263delTTTATCAGTCAAA	p.Asn others(5): Show p.Asn417fs	SCRN3	ENSG00000144306.15	transcript	ENST00000272732.11	protein_coding	8/8	1348/3052	1251/1275	417/424		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCRT1_chr8_144325565_144341482	144340527	TTACAGAA others(6): Show TTACAGAACAAAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	398	0.0025	-13	c.-43 others(24): Show c.-4371_-4359delTCTTTGTTCTGTA		SCRT1	ENSG00000261678.3	transcript	ENST00000569446.3	protein_coding					4046		chr8	TogoVar
SCTR_chr2_119434843_119529483	119449403	ACTTAAAA others(6): Show ACTTAAAATATCTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	290	0.0035	-13	c.922 others(28): Show c.922-636_922-624delAAGATATTTTAAG		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	9/12						chr2	TogoVar
SCTR_chr2_119434843_119529483	119493043	GATGGGGT others(6): Show GATGGGGTTTCACC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0289 a0001c0001t0007g0289	1	290	0.0035	-13	c.193 others(30): Show c.193+1372_193+1384delGGTGAAACCCCAT		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	2/12						chr2	TogoVar
SCT_chr11_621309_632181	628958	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-13	c.-18 others(24): Show c.-1828_-1816delGAAAGAAAGAAAG		SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding					1778		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43192632	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG03704.hp2 HG01256.hp2 HG03704.hp2	a0001 a0001	a0001c0006 a0001c0046 a0001c0006 a0001c0046	a0001c0006t0019 a0001c0046t0035 a0001c0006t0019 a0001c0046t0035	a0001c0006t0019g0067 a0001c0046t0035g0212 a0001c0006t0019g0067 a0001c0046t0035g0212	2	280	0.0071	-13	c.11 others(26): Show c.11352_*11364delAAAAAAAAAAAAA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding					4647		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43201320	AAAAAAAA others(6): Show AAAAAAAAGAAAAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0011 a0011	a0011c0058 a0011c0058	a0011c0058t0084 a0011c0058t0084	a0011c0058t0084g0262 a0011c0058t0084g0262	1	280	0.0036	-13	c.26 others(24): Show c.2664_*2676delGTTTTCTTTTTTT		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	22/22				2664		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43258027	GAAGCCTC others(6): Show GAAGCCTCCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	280	0.0036	-13	c.727 others(28): Show c.727+179_727+191delTCTGGGGAGGCTT		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	6/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43329012	TGTCTAGA others(6): Show TGTCTAGAGAAGAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp2 NA20300.hp1 HG03453.hp2 NA18906.hp2 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0024 a0003c0001 a0002c0002 a0002c0024 a0003c0001	a0002c0002t0029 a0002c0024t0034 a0003c0001t0085 a0002c0002t0029 a0002c0024t0034 a0003c0001t0085	a0002c0002t0029g0003 a0002c0024t0034g0018 a0003c0001t0085g0267 a0002c0002t0029g0003 a0002c0024t0034g0018 a0003c0001t0085g0267	3	280	0.0107	-13	c.221 others(30): Show c.221-8960_221-8948delGTCTTCTCTAGAC		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	2/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43337933	AAGACCTG others(6): Show AAGACCTGGATTTC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01071.hp2 others(5): Show HG00642.hp2 HG01070.hp1 HG01071.hp2 HG01261.hp1 HG01346.hp1 HG02738.hp2 HG03688.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0057 a0002c0005 a0001c0003 a0001c0057 a0002c0005	a0001c0003t0003 a0001c0003t0006 a0001c0057t0003 others(1): Show a0001c0003t0003 a0001c0003t0006 a0001c0057t0003 a0002c0005t0001	a0001c0003t0003g0001 a0001c0003t0003g0140 a0001c0003t0003g0145 others(4): Show a0001c0003t0003g0001 a0001c0003t0003g0140 a0001c0003t0003g0145 a0001c0003t0006g0133 a0001c0057t0003g0138 a0002c0005t0001g0131 a0002c0005t0001g0139	8	280	0.0286	-13	c.220 others(30): Show c.220+1158_220+1170delGAAATCCAGGTCT		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	2/21						chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9058595	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00621.hp2 others(65): Show HG00280.hp2 HG00558.hp2 HG00621.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02148.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02698.hp2 HG02809.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03654.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA19002.hp2 NA19004.hp2 NA19011.hp1 NA19057.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19078.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA20752.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0014 a0015	a0001c0002 a0001c0021 a0002c0001 others(8): Show a0001c0002 a0001c0021 a0002c0001 a0003c0003 a0003c0008 a0004c0004 a0005c0007 a0006c0015 a0010c0017 a0014c0041 a0015c0018	a0001c0002t0001 a0001c0002t0005 a0001c0002t0016 others(20): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0016 a0001c0021t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0007 a0002c0001t0008 a0002c0001t0011 a0003c0003t0001 a0003c0003t0005 a0003c0003t0009 a0003c0003t0016 a0003c0008t0006 a0003c0008t0011 a0004c0004t0007 a0005c0007t0011 a0006c0015t0005 a0010c0017t0004 a0014c0041t0004 a0015c0018t0001	a0001c0002t0001g0025 a0001c0002t0001g0045 a0001c0002t0001g0051 others(64): Show a0001c0002t0001g0025 a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0002t0001g0067 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0005g0042 a0001c0002t0005g0053 a0001c0002t0005g0075 a0001c0002t0016g0050 a0001c0021t0001g0052 a0002c0001t0001g0344 a0002c0001t0002g0313 a0002c0001t0003g0284 a0002c0001t0003g0314 a0002c0001t0003g0315 a0002c0001t0003g0316 a0002c0001t0003g0326 a0002c0001t0004g0230 a0002c0001t0004g0231 a0002c0001t0004g0232 a0002c0001t0004g0235 a0002c0001t0004g0250 a0002c0001t0004g0253 a0002c0001t0004g0261 a0002c0001t0004g0262 a0002c0001t0004g0268 a0002c0001t0004g0318 a0002c0001t0004g0332 a0002c0001t0004g0337 a0002c0001t0004g0339 a0002c0001t0007g0298 a0002c0001t0008g0225 a0002c0001t0008g0279 a0002c0001t0008g0283 a0002c0001t0008g0290 a0002c0001t0008g0302 a0002c0001t0008g0347 a0002c0001t0011g0003 a0003c0003t0001g0170 a0003c0003t0005g0140 a0003c0003t0005g0150 a0003c0003t0005g0151 a0003c0003t0005g0152 a0003c0003t0005g0155 a0003c0003t0005g0157 a0003c0003t0005g0159 a0003c0003t0005g0160 a0003c0003t0005g0161 a0003c0003t0005g0162 a0003c0003t0005g0167 a0003c0003t0009g0183 a0003c0003t0016g0184 a0003c0003t0016g0185 a0003c0008t0006g0139 a0003c0008t0006g0148 a0003c0008t0011g0194 a0004c0004t0007g0306 a0004c0004t0007g0307 a0005c0007t0011g0308 a0006c0015t0005g0213 a0010c0017t0004g0245 a0010c0017t0004g0295 a0014c0041t0004g0354 a0015c0018t0001g0005	68	358	0.1899	-13	c.109 others(30): Show c.1090+695_1090+707delTTTTTTTTTTTTT		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	9/22						chr11	TogoVar
SCYGR3_chr2_227609538_227619840	227615685	TGCCACCA others(6): Show TGCCACCATGCCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	462	0.0022	-13	c.-85 others(22): Show c.-858_-846delCAGGCATGGTGGC		SCYGR3	ENSG00000284704.1	transcript	ENST00000642029.1	protein_coding					846		chr2	TogoVar
SCYGR4_chr2_227612498_227622815	227615685	TGCCACCA others(6): Show TGCCACCATGCCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	458	0.0022	-13	c.-18 others(24): Show c.-1812_-1800delGCCACCATGCCTG		SCYGR4	ENSG00000284631.2	transcript	ENST00000641801.2	protein_coding					1812		chr2	TogoVar
SCYL2_chr12_100262177_100346715	100281833	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	220	0.0046	-13	c.-28 others(30): Show c.-28-1105_-28-1093delAAAAAAAAAAAAA		SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL3_chr1_169844631_169898896	169850998	TTTTTTTT others(6): Show TTTTTTTTTATTTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0278 a0001c0001t0083g0278	1	418	0.0024	-13	c.27 others(24): Show c.2702_*2714delCAAATAAAAAAAA		SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13				2702		chr1	TogoVar
SCYL3_chr1_169844631_169898896	169876958	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	418	0.0024	-13	c.352 others(28): Show c.352-880_352-868delTTTTTTTTTTTTT		SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	3/12						chr1	TogoVar
SDAD1_chr4_75944915_75995945	75959097	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0154 a0001c0010t0002g0155 a0001c0010t0002g0154 a0001c0010t0002g0155	2	376	0.0053	-13	c.148 others(30): Show c.1483+956_1483+968delTTTTTTTTTTTTT		SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	17/21						chr4	TogoVar
SDAD1_chr4_75944915_75995945	75973902	ACATCACT others(6): Show ACATCACTGCATGC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	376	0.0027	-13	c.636 others(28): Show c.636+161_636+173delGCATGCAGTGATG		SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	7/21						chr4	TogoVar
SDAD1_chr4_75944915_75995945	75978982	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0222 a0001c0001t0005g0222	1	376	0.0027	-13	c.295 others(30): Show c.295-1239_295-1227delTTTTTTTTTTTTT		SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	3/21						chr4	TogoVar
SDCCAG8_chr1_243251041_243505091	243263695	TACTCCTG others(6): Show TACTCCTGGCGCCA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp2 HG02280.hp1 others(15): Show HG01109.hp2 HG01261.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp2 NA18940.hp1 NA19030.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 others(15): Show a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0002t0001g0049 a0001c0002t0001g0117	18	189	0.0952	-13	c.68- others(28): Show c.68-6407_68-6395delTCCTGGCGCCAAC		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243275856	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	189	0.0053	-13	c.420 others(30): Show c.420+1216_420+1228delTTTTTTTTTTTTT		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243353490	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03017.hp1 HG03492.hp1 HG02735.hp2 HG03017.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0106 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0106	3	189	0.0159	-13	c.147 others(32): Show c.1473+9180_1473+9192delAAAAAAAAAAAAA		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243447248	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0158 a0002c0003t0001g0158	1	189	0.0053	-13	c.198 others(34): Show c.1985+20706_1985+20718delAAAAAAAAAAAAA		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243473919	CGGCGGGG others(6): Show CGGCGGGGGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	189	0.0053	-13	c.198 others(34): Show c.1986-15092_1986-15080delCGGGGGGGGGGGG		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243496329	CGAGGCGG others(6): Show CGAGGCGGAGGCGG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01175.hp1 HG01070.hp1 HG01071.hp2 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0139 a0002c0003t0001g0142 a0002c0003t0001g0158 a0002c0003t0001g0139 a0002c0003t0001g0142 a0002c0003t0001g0158	3	189	0.0159	-13	c.211 others(32): Show c.2113-3420_2113-3408delGAGGCGGGAGGCG		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2L1_chr22_21637302_21649299	21645946	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 NA18997.hp2 NA19056.hp2 HG03704.hp2 NA18997.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	430	0.0070	-13	c.17 others(24): Show c.1772_*1784delTTTTTTTTTTTTT		SDF2L1	ENSG00000128228.5	transcript	ENST00000248958.5	protein_coding					1648		chr22	TogoVar
SDF2_chr17_28643346_28666906	28666550	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	398	0.0025	-13	c.-46 others(24): Show c.-4687_-4675delAAAAAAAAAAAAA		SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding					4645		chr17	TogoVar
SDF4_chr1_1211931_1237001	1214577	GGTGGCTC others(6): Show GGTGGCTCCCGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	400	0.0025	-13	c.29 others(24): Show c.2922_*2934delAGGCGGGAGCCAC		SDF4	ENSG00000078808.20	transcript	ENST00000360001.12	protein_coding					2353		chr1	TogoVar
SDF4_chr1_1211931_1237001	1234193	CCGACGCG others(6): Show CCGACGCGGGTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	400	0.0025	-13	c.-24 others(24): Show c.-2489_-2477delAAAACCCGCGTCG		SDF4	ENSG00000078808.20	transcript	ENST00000360001.12	protein_coding					2193		chr1	TogoVar
SDHAF3_chr7_97112698_97186763	97121833	GTTTTTTG others(6): Show GTTTTTTGGTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	402	0.0025	-13	c.174 others(30): Show c.174+3943_174+3955delGGTTTTTTTTTTT		SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDHAF4_chr6_70561930_70594569	70572058	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0131 a0001c0001t0020g0131	1	370	0.0027	-13	c.64+ others(28): Show c.64+5070_64+5082delTTTTTTTTTTTTT		SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
SDHAF4_chr6_70561930_70594569	70591334	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02572.hp1 HG00597.hp1 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0008 a0001c0001t0002 a0002c0002t0008	a0001c0001t0002g0097 a0002c0002t0008g0077 a0001c0001t0002g0097 a0002c0002t0008g0077	2	370	0.0054	-13	c.26 others(24): Show c.2611_*2623delTTTTTTTTTTTTT		SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding					1766		chr6	TogoVar
SDHB_chr1_17013722_17059032	17029093	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 NA18942.hp1 others(2): Show HG02615.hp2 HG02630.hp1 NA18942.hp1 NA18979.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0002t0001g0306 others(2): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0002t0001g0306 a0001c0002t0001g0308 a0001c0002t0001g0314	5	368	0.0136	-13	c.287 others(28): Show c.287-370_287-358delAAAAAAAAAAAAA		SDHB	ENSG00000117118.11	transcript	ENST00000375499.8	protein_coding	3/7						chr1	TogoVar
SDHC_chr1_161309381_161368206	161317547	GTGGTTTT others(6): Show GTGGTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01243.hp1 others(13): Show HG00741.hp2 HG01109.hp1 HG01243.hp1 HG02109.hp1 HG02630.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0004g0012 a0001c0001t0004g0245 a0001c0001t0004g0246 others(12): Show a0001c0001t0004g0012 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0007g0244	16	330	0.0485	-13	c.20+ others(28): Show c.20+3124_20+3136delGGTTTTTTTTTTT		SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3298306	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0061 a0018c0024t0061	a0018c0024t0061g0013 a0018c0024t0061g0013	1	116	0.0086	-13	c.-32 others(24): Show c.-3280_-3268delTTTTTTTTTTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding					2945		chr7	TogoVar
SDK1_chr7_3296252_4274000	3319526	TCTGGCTT others(6): Show TCTGGCTTCTTGGC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG03139.hp1 HG02615.hp2 HG02886.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0068 a0002c0012 a0001c0068 a0002c0012	a0001c0068t0068 a0002c0012t0016 a0001c0068t0068 a0002c0012t0016	a0001c0068t0068g0001 a0002c0012t0016g0002 a0002c0012t0016g0003 a0001c0068t0068g0001 a0002c0012t0016g0002 a0002c0012t0016g0003	3	116	0.0259	-13	c.298 others(32): Show c.298+17648_298+17660delTTCTTGGCCTGGC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3321707	TCCCCCTC others(6): Show TCCCCCTCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01361.hp2 others(19): Show HG01109.hp1 HG01243.hp1 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03491.hp2 HG03540.hp2 HG03688.hp2 HG03710.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0007 a0012 a0015 a0022 a0033 a0036	a0001c0002 a0001c0008 a0001c0011 others(16): Show a0001c0002 a0001c0008 a0001c0011 a0001c0014 a0001c0037 a0001c0050 a0001c0061 a0002c0031 a0002c0042 a0002c0044 a0004c0048 a0005c0059 a0005c0066 a0007c0006 a0012c0015 a0015c0075 a0022c0064 a0033c0070 a0036c0053	a0001c0002t0040 a0001c0008t0007 a0001c0011t0039 others(17): Show a0001c0002t0040 a0001c0008t0007 a0001c0011t0039 a0001c0014t0018 a0001c0037t0033 a0001c0050t0036 a0001c0061t0041 a0002c0031t0034 a0002c0042t0007 a0002c0044t0035 a0004c0048t0038 a0005c0059t0012 a0005c0066t0037 a0007c0006t0001 a0007c0006t0012 a0012c0015t0017 a0015c0075t0042 a0022c0064t0007 a0033c0070t0069 a0036c0053t0032	a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0011t0039g0061 others(19): Show a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0011t0039g0061 a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0037t0033g0116 a0001c0050t0036g0109 a0001c0061t0041g0080 a0002c0031t0034g0083 a0002c0042t0007g0108 a0002c0044t0035g0079 a0004c0048t0038g0082 a0005c0059t0012g0063 a0005c0066t0037g0065 a0007c0006t0001g0036 a0007c0006t0012g0115 a0012c0015t0017g0059 a0012c0015t0017g0066 a0015c0075t0042g0081 a0022c0064t0007g0106 a0033c0070t0069g0064 a0036c0053t0032g0107	22	116	0.1897	-13	c.298 others(32): Show c.298+19827_298+19839delCCTCCCTCTCCCC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3346823	ATATATTT others(6): Show ATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0016 a0016	a0016c0046 a0016c0046	a0016c0046t0015 a0016c0046t0015	a0016c0046t0015g0046 a0016c0046t0015g0046	1	116	0.0086	-13	c.298 others(32): Show c.298+44941_298+44953delATATTTTTTTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3357326	GTGTTTTT others(6): Show GTGTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp2 HG01361.hp1 others(7): Show HG01123.hp2 HG01175.hp2 HG01361.hp1 HG01934.hp2 HG01978.hp2 HG02559.hp2 HG02723.hp2 HG02738.hp2 HG03098.hp1 HG03209.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0017 a0020	a0001c0035 a0001c0040 a0001c0047 others(7): Show a0001c0035 a0001c0040 a0001c0047 a0001c0060 a0002c0043 a0004c0034 a0005c0057 a0006c0078 a0017c0036 a0020c0028	a0001c0035t0028 a0001c0040t0050 a0001c0047t0022 others(7): Show a0001c0035t0028 a0001c0040t0050 a0001c0047t0022 a0001c0060t0027 a0002c0043t0002 a0004c0034t0002 a0005c0057t0006 a0006c0078t0003 a0017c0036t0005 a0020c0028t0020	a0001c0035t0028g0097 a0001c0040t0050g0022 a0001c0047t0022g0091 others(7): Show a0001c0035t0028g0097 a0001c0040t0050g0022 a0001c0047t0022g0091 a0001c0060t0027g0090 a0002c0043t0002g0105 a0004c0034t0002g0103 a0005c0057t0006g0098 a0006c0078t0003g0099 a0017c0036t0005g0058 a0020c0028t0020g0087	10	116	0.0862	-13	c.298 others(32): Show c.298+55444_298+55456delGTTTTTTTTTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar

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