Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SBDS_chr7_66982680_67000586	66994486	TTTTCTTA others(3): Show TTTTCTTACCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02132.hp2 NA19007.hp2 others(2): Show HG01255.hp2 HG02132.hp2 NA19007.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0171 others(2): Show a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0234	5	438	0.0114	-10	c.129 others(25): Show c.129-155_129-146delGGGTAAGAAA	SBDS	ENSG00000126524.12	transcript	ENST00000246868.7	protein_coding	1/4			chr7	TogoVar
SBDS_chr7_66982680_67000586	66997820	GGTTTCAC others(3): Show GGTTTCACCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02818.hp2 NA19030.hp1 HG02723.hp1 HG02818.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0016 a0001c0001t0001g0042	3	438	0.0069	-10	c.-24 others(21): Show c.-2413_-2404delATGGTGAAAC	SBDS	ENSG00000126524.12	transcript	ENST00000246868.7	protein_coding		2235		chr7	TogoVar
SBF1_chr22_50440000_50480035	50445100	GTGAACCT others(3): Show GTGAACCTTCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0158 a0001c0065t0158	a0001c0065t0158g0349 a0001c0065t0158g0349	1	402	0.0025	-10	c.20 others(21): Show c.2032_*2041delGGAAGGTTCA	SBF1	ENSG00000100241.22	transcript	ENST00000380817.8	protein_coding	41/41	2032		chr22	TogoVar
SBF1_chr22_50440000_50480035	50451166	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01361.hp1 HG01515.hp2 others(19): Show HG00438.hp2 HG01361.hp1 HG01515.hp2 HG01981.hp2 HG02027.hp1 HG02602.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18964.hp1 NA18977.hp2 NA18998.hp1 NA19005.hp2 NA19054.hp1 NA19056.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp1	a0001 a0008 a0028 others(1): Show a0001 a0008 a0028 a0030	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0039 a0001c0054 a0008c0067 a0028c0029 a0030c0024	a0001c0001t0003 a0001c0001t0009 a0001c0001t0021 others(15): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0021 a0001c0001t0026 a0001c0001t0028 a0001c0001t0063 a0001c0001t0071 a0001c0002t0004 a0001c0003t0066 a0001c0003t0068 a0001c0006t0016 a0001c0006t0051 a0001c0006t0147 a0001c0039t0038 a0001c0054t0021 a0008c0067t0009 a0028c0029t0028 a0030c0024t0072	a0001c0001t0003g0052 a0001c0001t0009g0067 a0001c0001t0021g0015 others(19): Show a0001c0001t0003g0052 a0001c0001t0009g0067 a0001c0001t0021g0015 a0001c0001t0021g0018 a0001c0001t0026g0045 a0001c0001t0028g0020 a0001c0001t0063g0017 a0001c0001t0071g0058 a0001c0002t0004g0132 a0001c0002t0004g0144 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0003t0066g0051 a0001c0003t0068g0047 a0001c0006t0016g0133 a0001c0006t0051g0127 a0001c0006t0147g0145 a0001c0039t0038g0044 a0001c0054t0021g0019 a0008c0067t0009g0065 a0028c0029t0028g0049 a0030c0024t0072g0048	22	402	0.0547	-10	c.504 others(29): Show c.5044-2526_5044-2517delTTTTTTTTTT	SBF1	ENSG00000100241.22	transcript	ENST00000380817.8	protein_coding	36/40			chr22	TogoVar
SBF2_chr11_9773668_10299219	9778335	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02145.hp2 others(5): Show HG01109.hp1 HG02055.hp1 HG02145.hp2 HG02723.hp2 HG02970.hp1 HG03209.hp2 HG03453.hp1 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0009 a0001c0001 a0001c0005 a0006c0009	a0001c0001t0001 a0001c0005t0001 a0006c0009t0001 a0001c0001t0001 a0001c0005t0001 a0006c0009t0001	a0001c0001t0001g0179 a0001c0005t0001g0195 a0001c0005t0001g0201 others(5): Show a0001c0001t0001g0179 a0001c0005t0001g0195 a0001c0005t0001g0201 a0001c0005t0001g0204 a0001c0005t0001g0209 a0001c0005t0001g0210 a0006c0009t0001g0197 a0006c0009t0001g0199	8	224	0.0357	-10	c.20 others(21): Show c.2073_*2082delTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding		332		chr11	TogoVar
SBF2_chr11_9773668_10299219	9794676	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02970.hp2 HG02559.hp1 HG02559.hp2 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0016 a0001c0007t0004 a0001c0007t0016	a0001c0007t0004g0104 a0001c0007t0004g0151 a0001c0007t0016g0180 a0001c0007t0004g0104 a0001c0007t0004g0151 a0001c0007t0016g0180	3	224	0.0134	-10	c.457 others(29): Show c.4570+1145_4570+1154delTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	33/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9833821	AGTGCAAT others(3): Show AGTGCAATGGC	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	224	0.0045	-10	c.345 others(29): Show c.3456-1411_3456-1402delGCCATTGCAC	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	26/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9880102	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0018 a0001c0011t0001g0018	1	224	0.0045	-10	c.192 others(31): Show c.1929+15831_1929+15840delCTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	17/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9929381	ATGACAAC others(3): Show ATGACAACCAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00735.hp1 others(27): Show HG00280.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01123.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01993.hp1 HG02602.hp1 HG02615.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG03225.hp2 HG03490.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0010 a0005c0006 a0007c0008 a0009c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0003t0002 a0002c0002t0004 a0003c0004t0003 a0004c0010t0001 a0005c0006t0002 a0007c0008t0005 a0009c0014t0002	a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 others(27): Show a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0084 a0001c0001t0002g0185 a0001c0001t0004g0053 a0001c0001t0004g0067 a0001c0001t0015g0108 a0001c0003t0002g0184 a0002c0002t0004g0069 a0003c0004t0003g0182 a0004c0010t0001g0169 a0004c0010t0001g0183 a0005c0006t0002g0045 a0007c0008t0005g0062 a0007c0008t0005g0063 a0009c0014t0002g0071	30	224	0.1339	-10	c.186 others(31): Show c.1860+32566_1860+32575delCTGGTTGTCA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9942903	GAAAGAAA others(3): Show GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0205 a0001c0003t0004g0205	1	224	0.0045	-10	c.186 others(31): Show c.1860+19044_1860+19053delTTCTTTCTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9945338	CAATGAAG others(3): Show CAATGAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0016 a0001c0001t0014g0016	1	224	0.0045	-10	c.186 others(31): Show c.1860+16609_1860+16618delTTTCTTCATT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9967967	CTCTCTAT others(3): Show CTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp1 HG02897.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0010 a0001c0003 a0004c0010	a0001c0003t0002 a0004c0010t0001 a0001c0003t0002 a0004c0010t0001	a0001c0003t0002g0184 a0004c0010t0001g0169 a0004c0010t0001g0183 a0001c0003t0002g0184 a0004c0010t0001g0169 a0004c0010t0001g0183	3	224	0.0134	-10	c.160 others(27): Show c.1600+364_1600+373delTATATAGAGA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	14/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9974979	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01070.hp1 others(11): Show HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp1 HG03831.hp1 NA18973.hp1 NA19002.hp2 NA19063.hp2 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0002 a0004c0010 a0001c0003 a0002c0002 a0004c0010	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(3): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0002c0002t0001 a0002c0002t0003 a0004c0010t0001	a0001c0003t0001g0165 a0001c0003t0002g0154 a0001c0003t0002g0159 others(11): Show a0001c0003t0001g0165 a0001c0003t0002g0154 a0001c0003t0002g0159 a0001c0003t0002g0163 a0001c0003t0002g0164 a0001c0003t0002g0184 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0002c0002t0001g0012 a0002c0002t0003g0036 a0004c0010t0001g0169 a0004c0010t0001g0183	14	224	0.0625	-10	c.139 others(29): Show c.1396-6444_1396-6435delCTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10055524	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp1 HG01071.hp2 others(11): Show HG00544.hp2 HG01070.hp1 HG01071.hp2 HG01169.hp1 HG02074.hp2 HG02683.hp2 HG03688.hp1 HG03831.hp1 NA18946.hp1 NA19002.hp2 NA19012.hp1 NA19063.hp2 NA19064.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005	a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0003g0031 others(11): Show a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0003g0031 a0001c0001t0012g0001 a0001c0003t0001g0160 a0001c0003t0001g0165 a0001c0003t0002g0019 a0001c0003t0002g0154 a0001c0003t0002g0163 a0001c0003t0002g0164 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0005g0162	14	224	0.0625	-10	c.142 others(29): Show c.142-12553_142-12544delGTGTGTGTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10223399	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02135.hp1 NA18948.hp2 others(3): Show HG01361.hp1 HG02135.hp1 NA18948.hp2 NA18973.hp1 NA18995.hp1 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0015 a0001c0001t0003g0021 a0001c0001t0003g0034 others(3): Show a0001c0001t0001g0015 a0001c0001t0003g0021 a0001c0001t0003g0034 a0001c0001t0003g0040 a0002c0002t0003g0036 a0002c0002t0004g0014	6	224	0.0268	-10	c.56- others(27): Show c.56-29422_56-29413delTATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10254900	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG01361.hp1 others(21): Show HG00423.hp1 HG00735.hp2 HG01361.hp1 HG01515.hp2 HG01884.hp1 HG01975.hp2 HG01981.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02615.hp1 HG02809.hp2 HG03209.hp1 HG03225.hp1 NA18939.hp1 NA18948.hp2 NA18951.hp1 NA18995.hp1 NA19012.hp1 NA19068.hp2 NA19240.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0003t0002 a0002c0002t0001 a0002c0002t0004 a0003c0004t0003	a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0039 others(21): Show a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0002g0161 a0001c0001t0002g0190 a0001c0001t0003g0021 a0001c0001t0003g0040 a0001c0001t0003g0189 a0001c0001t0004g0219 a0001c0001t0005g0143 a0001c0001t0005g0187 a0001c0001t0005g0192 a0001c0001t0007g0188 a0001c0003t0002g0019 a0001c0003t0002g0154 a0001c0003t0002g0184 a0002c0002t0001g0012 a0002c0002t0001g0095 a0002c0002t0004g0014 a0003c0004t0003g0011 a0003c0004t0003g0022 a0003c0004t0003g0026 a0003c0004t0003g0028 a0003c0004t0003g0052	24	224	0.1071	-10	c.55+ others(27): Show c.55+39105_55+39114delTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10258081	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02572.hp1 others(8): Show HG02145.hp1 HG02280.hp1 HG02572.hp1 HG02622.hp2 HG02965.hp1 HG03130.hp1 HG03225.hp2 HG03669.hp1 NA18522.hp1 NA19030.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0003t0005 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0185 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0185 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0006g0007 a0001c0001t0017g0181 a0001c0003t0005g0186 a0002c0002t0001g0003	11	224	0.0491	-10	c.55+ others(27): Show c.55+35924_55+35933delGTGTGTGTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10291657	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp1 HG02897.hp1 others(3): Show HG02615.hp1 HG02895.hp1 HG02897.hp1 HG03669.hp1 HG04115.hp2 NA19082.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0010	a0001c0001t0004 a0001c0003t0002 a0001c0003t0004 others(2): Show a0001c0001t0004 a0001c0003t0002 a0001c0003t0004 a0002c0002t0001 a0004c0010t0001	a0001c0001t0004g0008 a0001c0003t0002g0184 a0001c0003t0004g0205 others(3): Show a0001c0001t0004g0008 a0001c0003t0002g0184 a0001c0003t0004g0205 a0002c0002t0001g0003 a0004c0010t0001g0169 a0004c0010t0001g0183	6	224	0.0268	-10	c.55+ others(25): Show c.55+2348_55+2357delGTGTGTGTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK1_chr16_28287525_28328849	28308740	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0222 a0001c0001t0139g0222	1	384	0.0026	-10	c.-7- others(25): Show c.-7-8614_-7-8605delGTGTGTGTGT	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28321182	AACACACA others(3): Show AACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG01106.hp1 HG01243.hp2 others(11): Show HG00140.hp2 HG01106.hp1 HG01243.hp2 HG01884.hp1 HG02273.hp1 HG02486.hp2 HG02818.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 NA18906.hp1 NA18990.hp2 NA19009.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0019 a0001c0001t0054 a0001c0001t0135 others(7): Show a0001c0001t0019 a0001c0001t0054 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0003t0059 a0001c0003t0190	a0001c0001t0019g0007 a0001c0001t0019g0035 a0001c0001t0019g0054 others(11): Show a0001c0001t0019g0007 a0001c0001t0019g0035 a0001c0001t0019g0054 a0001c0001t0019g0082 a0001c0001t0054g0266 a0001c0001t0054g0267 a0001c0001t0135g0173 a0001c0001t0136g0067 a0001c0001t0137g0072 a0001c0001t0138g0184 a0001c0001t0139g0222 a0001c0001t0140g0223 a0001c0003t0059g0288 a0001c0003t0190g0287	14	384	0.0365	-10	c.30 others(19): Show c.308_*317delACACACACAC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	308	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322921	TCTCTCTC others(3): Show TCTCTCTCTCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG01346.hp2 HG01358.hp2 others(3): Show HG00621.hp1 HG01346.hp2 HG01358.hp2 HG02129.hp2 HG03239.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0012 a0001c0001t0104 a0002c0005t0012 a0001c0001t0012 a0001c0001t0104 a0002c0005t0012	a0001c0001t0012g0030 a0001c0001t0012g0032 a0001c0001t0012g0278 others(3): Show a0001c0001t0012g0030 a0001c0001t0012g0032 a0001c0001t0012g0278 a0001c0001t0012g0294 a0001c0001t0104g0204 a0002c0005t0012g0277	6	384	0.0156	-10	c.20 others(21): Show c.2010_*2019delCCTCTCTCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	2010	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322931	CCTCTCTC others(3): Show CCTCTCTCTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG03492.hp1 HG03834.hp2 others(2): Show HG01257.hp2 HG03492.hp1 HG03834.hp2 NA18975.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0076 a0001c0001t0090 others(1): Show a0001c0001t0048 a0001c0001t0076 a0001c0001t0090 a0001c0001t0193	a0001c0001t0048g0156 a0001c0001t0048g0205 a0001c0001t0076g0165 others(2): Show a0001c0001t0048g0156 a0001c0001t0048g0205 a0001c0001t0076g0165 a0001c0001t0090g0169 a0001c0001t0193g0034	5	384	0.0130	-10	c.20 others(21): Show c.2050_*2059delTCTCTCTCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	2050	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK2_chr19_55523611_55542133	55527539	ACACACAC others(3): Show ACACACACATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01069.hp1 others(8): Show HG00140.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG02071.hp2 HG02683.hp1 NA19043.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0003 a0001c0001 a0002c0002 a0000c0003 a0001c0001 a0002c0002	a0000c0003t0001 a0001c0001t0012 a0001c0001t0013 others(2): Show a0000c0003t0001 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0002c0002t0006	a0000c0003t0001g0173 a0001c0001t0012g0021 a0001c0001t0012g0220 others(4): Show a0000c0003t0001g0173 a0001c0001t0012g0021 a0001c0001t0012g0220 a0001c0001t0012g0221 a0001c0001t0013g0178 a0001c0001t0019g0014 a0002c0002t0006g0099	11	434	0.0254	-10	c.21 others(21): Show c.2184_*2193delAATGTGTGTG	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		1071		chr19	TogoVar
SBK2_chr19_55523611_55542133	55533659	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18960.hp2 NA18994.hp1 others(3): Show HG01943.hp2 NA18960.hp2 NA18994.hp1 NA19004.hp2 NA19012.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0012 a0002c0002 a0002c0012	a0002c0002t0003 a0002c0012t0003 a0002c0002t0003 a0002c0012t0003	a0002c0002t0003g0025 a0002c0002t0003g0185 a0002c0002t0003g0269 others(1): Show a0002c0002t0003g0025 a0002c0002t0003g0185 a0002c0002t0003g0269 a0002c0012t0003g0243	6	434	0.0138	-10	c.254 others(27): Show c.254-2324_254-2315delTTTTTTTTTT	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	2/3			chr19	TogoVar
SBK2_chr19_55523611_55542133	55540430	GTAATCCC others(3): Show GTAATCCCAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	1	434	0.0023	-10	c.-33 others(21): Show c.-3389_-3380delGCTGGGATTA	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		3298		chr19	TogoVar
SBK3_chr19_55535656_55550543	55540430	GTAATCCC others(3): Show GTAATCCCAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	438	0.0023	-10	c.40 others(19): Show c.406_*415delGCTGGGATTA	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		225		chr19	TogoVar
SBK3_chr19_55535656_55550543	55549434	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0019 a0001c0006t0003g0019	1	438	0.0023	-10	c.-39 others(21): Show c.-3901_-3892delTTTTTTTTTT	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3892		chr19	TogoVar
SBNO1_chr12_123284109_123369847	123294652	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01358.hp1 HG02683.hp1 others(3): Show HG01175.hp2 HG01358.hp1 HG02683.hp1 HG02970.hp1 HG03471.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0007 a0001c0006 a0003c0007	a0001c0006t0011 a0001c0006t0040 a0003c0007t0041 a0001c0006t0011 a0001c0006t0040 a0003c0007t0041	a0001c0006t0011g0002 a0001c0006t0011g0003 a0001c0006t0011g0004 others(3): Show a0001c0006t0011g0002 a0001c0006t0011g0003 a0001c0006t0011g0004 a0001c0006t0011g0023 a0001c0006t0040g0022 a0003c0007t0041g0019	6	260	0.0231	-10	c.12 others(21): Show c.1246_*1255delCTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	32/32	1246		chr12	TogoVar
SBNO1_chr12_123284109_123369847	123300980	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01175.hp1 HG00741.hp2 HG01167.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0058 a0001c0001t0001 a0001c0001t0058	a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0058g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0058g0196	3	260	0.0115	-10	c.384 others(29): Show c.3845+1834_3845+1843delTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	30/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123311712	CTATCTAT others(3): Show CTATCTATCTA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0065 a0001c0003t0065	a0001c0003t0065g0072 a0001c0003t0065g0072	1	260	0.0039	-10	c.322 others(27): Show c.3221-593_3221-584delTAGATAGATA	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	24/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123311720	CTATATAT others(3): Show CTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG00741.hp1 others(27): Show HG00140.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01256.hp1 HG01261.hp2 HG01516.hp2 HG01978.hp2 HG01993.hp2 HG02109.hp2 HG02280.hp1 HG02300.hp2 HG02735.hp1 HG02896.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03942.hp1 HG04199.hp2 NA20300.hp2 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0020 a0002c0004t0031 others(5): Show a0002c0004t0002 a0002c0004t0020 a0002c0004t0031 a0002c0004t0032 a0002c0004t0079 a0002c0004t0080 a0002c0004t0081 a0002c0004t0082	a0002c0004t0002g0038 a0002c0004t0002g0040 a0002c0004t0002g0043 others(27): Show a0002c0004t0002g0038 a0002c0004t0002g0040 a0002c0004t0002g0043 a0002c0004t0002g0044 a0002c0004t0002g0046 a0002c0004t0002g0047 a0002c0004t0002g0048 a0002c0004t0002g0049 a0002c0004t0002g0050 a0002c0004t0002g0054 a0002c0004t0002g0055 a0002c0004t0002g0056 a0002c0004t0002g0057 a0002c0004t0002g0058 a0002c0004t0002g0059 a0002c0004t0002g0061 a0002c0004t0002g0062 a0002c0004t0002g0081 a0002c0004t0002g0092 a0002c0004t0020g0039 a0002c0004t0020g0078 a0002c0004t0020g0091 a0002c0004t0031g0052 a0002c0004t0031g0060 a0002c0004t0032g0073 a0002c0004t0032g0079 a0002c0004t0079g0045 a0002c0004t0080g0051 a0002c0004t0081g0042 a0002c0004t0082g0041	30	260	0.1154	-10	c.322 others(27): Show c.3221-601_3221-592delTATATATATA	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	24/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123322884	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG00673.hp1 others(40): Show HG00621.hp1 HG00642.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01243.hp2 HG02071.hp2 HG02080.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp2 HG02735.hp2 HG02738.hp2 HG02976.hp1 HG03516.hp1 HG03831.hp1 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18963.hp1 NA18972.hp2 NA18981.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19082.hp1 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0003 a0001c0002t0009 a0001c0002t0021 others(13): Show a0001c0002t0003 a0001c0002t0009 a0001c0002t0021 a0001c0002t0022 a0001c0002t0034 a0001c0002t0085 a0001c0002t0086 a0001c0002t0088 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0092 a0001c0002t0093 a0001c0002t0094 a0001c0002t0095 a0001c0011t0003	a0001c0002t0003g0219 a0001c0002t0003g0224 a0001c0002t0003g0225 others(40): Show a0001c0002t0003g0219 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0231 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0246 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0009g0241 a0001c0002t0009g0242 a0001c0002t0009g0243 a0001c0002t0009g0251 a0001c0002t0009g0252 a0001c0002t0009g0253 a0001c0002t0021g0244 a0001c0002t0021g0250 a0001c0002t0021g0254 a0001c0002t0022g0230 a0001c0002t0022g0255 a0001c0002t0022g0256 a0001c0002t0034g0217 a0001c0002t0034g0218 a0001c0002t0085g0209 a0001c0002t0086g0220 a0001c0002t0088g0239 a0001c0002t0089g0247 a0001c0002t0090g0222 a0001c0002t0091g0223 a0001c0002t0092g0226 a0001c0002t0093g0245 a0001c0002t0094g0240 a0001c0002t0095g0260 a0001c0011t0003g0234 a0001c0011t0003g0235	43	260	0.1654	-10	c.212 others(27): Show c.2125+786_2125+795delCTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	16/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123338883	CACACACC others(3): Show CACACACCCCG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0040	a0001c0006t0040g0022 a0001c0006t0040g0022	1	260	0.0039	-10	c.651 others(27): Show c.651+2095_651+2104delCGGGGTGTGT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	5/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123362435	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0255 a0001c0002t0022g0255	1	260	0.0039	-10	c.-1+ others(25): Show c.-1+2256_-1+2265delTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	1/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1135045	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0123 a0001c0005t0001g0123	1	203	0.0049	-10	c.280 others(27): Show c.280-7290_280-7281delTTTTTTTTTT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1166617	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp2 HG02055.hp1 others(4): Show HG00639.hp1 HG01168.hp2 HG02055.hp1 HG02602.hp1 HG02647.hp1 HG03130.hp1 NA20752.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0021 a0001c0006 a0001c0007 others(1): Show a0000c0021 a0001c0006 a0001c0007 a0002c0003	a0000c0021t0001 a0001c0006t0006 a0001c0007t0001 others(2): Show a0000c0021t0001 a0001c0006t0006 a0001c0007t0001 a0002c0003t0001 a0002c0003t0006	a0000c0021t0001g0042 a0001c0006t0006g0131 a0001c0007t0001g0011 others(4): Show a0000c0021t0001g0042 a0001c0006t0006g0131 a0001c0007t0001g0011 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0127 a0002c0003t0006g0031	7	203	0.0345	-10	c.-12 others(29): Show c.-127+7545_-127+7554delTGTGTGTGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1173280	ACTCGGGC others(3): Show ACTCGGGCCAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02809.hp1 others(1): Show HG01891.hp2 HG02055.hp2 HG02809.hp1 NA19030.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0004 a0001c0010 a0003c0012 others(1): Show a0001c0004 a0001c0010 a0003c0012 a0009c0031	a0001c0004t0011 a0001c0010t0001 a0003c0012t0007 others(1): Show a0001c0004t0011 a0001c0010t0001 a0003c0012t0007 a0009c0031t0001	a0001c0004t0011g0194 a0001c0010t0001g0193 a0003c0012t0007g0195 others(1): Show a0001c0004t0011g0194 a0001c0010t0001g0193 a0003c0012t0007g0195 a0009c0031t0001g0196	4	203	0.0197	-10	c.-12 others(27): Show c.-127+882_-127+891delATGGCCCGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSN_chr19_35518367_35533311	35522479	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG03041.hp1 HG03491.hp2 others(7): Show HG00558.hp1 HG03041.hp1 HG03491.hp2 HG03704.hp2 NA18747.hp1 NA18966.hp1 NA18970.hp2 NA19001.hp2 NA19081.hp1 NA19089.hp2	a0001 a0018 a0001 a0018	a0001c0002 a0001c0003 a0018c0036 a0001c0002 a0001c0003 a0018c0036	a0001c0002t0001 a0001c0003t0001 a0018c0036t0001 a0001c0002t0001 a0001c0003t0001 a0018c0036t0001	a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0003t0001g0012 others(2): Show a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0003t0001g0012 a0001c0003t0001g0080 a0018c0036t0001g0093	10	450	0.0222	-10	c.10 others(21): Show c.1021_*1030delTTTTTTTTTT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		887		chr19	TogoVar
SBSN_chr19_35518367_35533311	35532470	TTTCTTGT others(3): Show TTTCTTGTCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0023 a0001c0010t0001g0023	1	450	0.0022	-10	c.-41 others(21): Show c.-4199_-4190delTTGACAAGAA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		4160		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73084749	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02723.hp2 HG02965.hp1 others(3): Show HG02071.hp2 HG02723.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0008 a0002c0002t0002 a0003c0003t0006 others(3): Show a0001c0001t0008 a0002c0002t0002 a0003c0003t0006 a0003c0003t0025 a0003c0003t0027 a0004c0006t0012	a0001c0001t0008g0214 a0002c0002t0002g0225 a0003c0003t0006g0093 others(3): Show a0001c0001t0008g0214 a0002c0002t0002g0225 a0003c0003t0006g0093 a0003c0003t0025g0097 a0003c0003t0027g0095 a0004c0006t0012g0094	6	414	0.0145	-10	c.215 others(27): Show c.215-3546_215-3537delGTGTGTGTGT	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	1/4			chr8	TogoVar
SC5D_chr11_121287771_121318410	121306140	TTTATAGT others(3): Show TTTATAGTTTA	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	424	0.0024	-10	c.344 others(25): Show c.344-245_344-236delTTATAGTTTA	SC5D	ENSG00000109929.10	transcript	ENST00000264027.9	protein_coding	3/4			chr11	TogoVar
SC5D_chr11_121287771_121318410	121314315	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 NA20905.hp1 HG01243.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0086 a0001c0001t0012g0023 a0001c0001t0002g0086 a0001c0001t0012g0023	2	424	0.0047	-10	c.68 others(21): Show c.6804_*6813delTTTTTTTTTT	SC5D	ENSG00000109929.10	transcript	ENST00000264027.9	protein_coding		906		chr11	TogoVar
SCAF11_chr12_45914131_45995574	45943594	TAGTTTCA others(3): Show TAGTTTCAGGC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02809.hp1 HG01346.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0309 a0001c0001t0010g0310 a0001c0001t0010g0309 a0001c0001t0010g0310	2	344	0.0058	-10	c.463 others(27): Show c.463+1645_463+1654delGCCTGAAACT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	6/14			chr12	TogoVar
SCAF11_chr12_45914131_45995574	45958776	TACCCAAA others(3): Show TACCCAAAGAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0003 a0016c0026t0003	a0016c0026t0003g0275 a0016c0026t0003g0275	1	344	0.0029	-10	c.219 others(27): Show c.219+2914_219+2923delGTCTTTGGGT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	3/14			chr12	TogoVar
SCAF11_chr12_45914131_45995574	45972919	TAGATATA others(3): Show TAGATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG02897.hp1 HG02615.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292	3	344	0.0087	-10	c.-21 others(27): Show c.-21-8741_-21-8732delCTATATATCT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF11_chr12_45914131_45995574	45972977	TAGATATA others(3): Show TAGATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03239.hp2 HG03704.hp1 others(2): Show HG02738.hp2 HG03239.hp2 HG03704.hp1 HG04204.hp2 NA20905.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0025 a0003c0005t0004g0026 a0003c0005t0004g0027 others(2): Show a0003c0005t0004g0025 a0003c0005t0004g0026 a0003c0005t0004g0027 a0003c0005t0004g0028 a0003c0005t0004g0029	5	344	0.0145	-10	c.-21 others(27): Show c.-21-8799_-21-8790delCTATATATCT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF11_chr12_45914131_45995574	45983742	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02559.hp2 others(1): Show HG01167.hp2 HG01169.hp1 HG02559.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0022 a0001c0007t0003g0293 a0001c0007t0003g0294 a0001c0007t0003g0022 a0001c0007t0003g0293 a0001c0007t0003g0294	4	344	0.0116	-10	c.-22 others(27): Show c.-22+6601_-22+6610delGTGTGTGTGT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF1_chr19_49637209_49663642	49659984	TACACACA others(3): Show TACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG02148.hp2 HG02300.hp2 others(7): Show HG01928.hp1 HG02148.hp2 HG02300.hp2 HG03704.hp2 HG03710.hp2 NA19055.hp1 NA19064.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0028 a0002c0001 a0001c0002 a0001c0028 a0002c0001	a0001c0002t0001 a0001c0028t0001 a0002c0001t0001 a0001c0002t0001 a0001c0028t0001 a0002c0001t0001	a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0001g0085 others(4): Show a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0028t0001g0003 a0002c0001t0001g0001	10	382	0.0262	-10	c.15 others(21): Show c.1586_*1595delACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF4_chr21_31666000_31737118	31717864	CACACACA others(3): Show CACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19043.hp1 HG03139.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0118 a0001c0003t0001g0119	2	352	0.0057	-10	c.31- others(27): Show c.31-11517_31-11508delATATGTGTGT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	1/19			chr21	TogoVar
SCAF4_chr21_31666000_31737118	31717904	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	352	0.0028	-10	c.31- others(27): Show c.31-11557_31-11548delGTGTGTGTGT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	1/19			chr21	TogoVar

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