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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SAMD4A_chr14_54562128_54798312	54739055	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	18	0.0556	22	c.979 others(39): Show c.979+1787_979+1788insTTTTTTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD5_chr6_147503690_147575021	147551812	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0069	a0001c0002t0069g0107 a0001c0002t0069g0107	1	31	0.0323	22	c.460 others(41): Show c.460-12578_460-12557dupATATATATATATATATATATAT	SAMD5	ENSG00000203727.4	transcript	ENST00000367474.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAMD8_chr10_75106656_75187123	75148346	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	64	0.0156	22	c.-15 others(39): Show c.-15-2164_-15-2143dupTTTTTTTTTTTTTTTTTTTTTT	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMHD1_chr20_36885229_36956708	36947409	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGATTTGGAAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(90): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02698.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG04204.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA19003.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0025 a0001c0001t0028	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(90): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0223 a0001c0001t0013g0058 a0001c0001t0014g0116 a0001c0001t0016g0090 a0001c0001t0019g0061 a0001c0001t0025g0127 a0001c0001t0028g0042	93	338	0.2751	22	c.209 others(37): Show c.209-606_209-605insCTCTTCCAAATCACACACACAC	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAMSN1_chr21_14480228_14551315	14481572	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 NA20129.hp1 HG00639.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0059 a0001c0002t0009g0028 a0001c0001t0001g0059 a0001c0002t0009g0028	2	23	0.0870	22	c.43 others(33): Show c.4339_*4340insTTTTTTTTTTTTTTTTTTTTTT	SAMSN1	ENSG00000155307.19	transcript	ENST00000400566.6	protein_coding		3655		chr21	TogoVar
SAP130_chr2_127936222_128033059	127947764	C C	CTGTGTGT others(15): Show CTGTGTGTGTGAGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00673.hp1 others(38): Show HG00280.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01192.hp1 HG02165.hp1 HG02280.hp2 HG02602.hp1 HG02738.hp1 HG03139.hp1 HG03209.hp2 HG03490.hp1 HG03669.hp1 NA18522.hp2 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18964.hp2 NA18973.hp2 NA18974.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18991.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp2 NA19057.hp1 NA19066.hp2 NA19074.hp1 NA19083.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0013 a0001c0001 a0001c0009 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0009t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0131 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0292 a0001c0001t0001g0307 a0001c0001t0002g0188 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0014g0134 a0001c0009t0001g0215 a0001c0013t0001g0270	41	73	0.5616	22	c.279 others(41): Show c.2797+2104_2797+2105insCACACACACACTCACACACACA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	18/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18952.hp2 HG01099.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0057 a0001c0002t0001g0039 a0001c0002t0001g0057	2	75	0.0267	22	c.870 others(39): Show c.870-3525_870-3504dupAAAAAAAAAAAAAAAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128018483	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0089	1	78	0.0128	22	c.113 others(37): Show c.113-590_113-569dupTTTTTTTTTTTTTTTTTTTTTT	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	2/20			chr2	TogoVar
SAP30BP_chr17_75662338_75713059	75709792	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	3	0.3333	22	c.32 others(33): Show c.3271_*3272insAAAAAAAAAAAAAAAAAAAAAA	SAP30BP	ENSG00000161526.15	transcript	ENST00000584667.6	protein_coding		1734		chr17	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02922.hp1 HG03471.hp1 others(1): Show HG01884.hp2 HG02922.hp1 HG03471.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0022 a0001c0001t0007 a0001c0001t0016 a0001c0001t0022	a0001c0001t0007g0037 a0001c0001t0007g0127 a0001c0001t0016g0025 others(1): Show a0001c0001t0007g0037 a0001c0001t0007g0127 a0001c0001t0016g0025 a0001c0001t0022g0098	4	7	0.5714	22	c.-20 others(31): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SAR1A_chr10_70142289_70175514	70149547	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG03130.hp2 HG03486.hp2 HG00735.hp2 HG03130.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0047 a0001c0001t0028g0235 a0001c0001t0028g0047 a0001c0001t0028g0235	3	26	0.1154	22	c.29 others(33): Show c.2907_*2928dupAAAAAAAAAAAAAAAAAAAAAA	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	2928		chr10	TogoVar
SARDH_chr9_133658560_133743352	133668347	C C	CTCACCTC others(15): Show CTCACCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0220 a0002c0014t0001g0220	1	260	0.0038	22	c.249 others(41): Show c.2496-1478_2496-1477insAGGGAGAGGGAGAGGGAGGTGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109219262	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01358.hp1 HG01515.hp1 others(5): Show HG00438.hp1 HG01358.hp1 HG01515.hp1 HG02572.hp1 HG03579.hp2 NA18943.hp2 NA18944.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0135 a0001c0001t0001g0225 a0001c0001t0001g0226 others(5): Show a0001c0001t0001g0135 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0252 a0001c0003t0001g0089 a0001c0003t0001g0128	8	25	0.3200	22	c.137 others(39): Show c.137-4710_137-4689dupTATATATATATATATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109226677	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	253	0.0040	22	c.208 others(39): Show c.208-1674_208-1673insAAAATATATATATATATATACA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148338055	T T	TCTTCAAT others(15): Show TCTTCAATCTATACCCATCTTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00544.hp1 others(59): Show HG00099.hp1 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02273.hp2 HG02559.hp2 HG02698.hp2 HG03239.hp2 HG03490.hp1 HG03654.hp1 HG03831.hp1 HG03942.hp1 NA18747.hp1 NA18943.hp2 NA18947.hp1 NA18957.hp1 NA18966.hp2 NA18969.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp2 NA19082.hp1 NA19088.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0003 a0001c0009 others(9): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0004 a0002c0005 a0002c0010 a0002c0017 a0002c0032 a0002c0037 a0003c0020 a0010c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0003t0002 a0001c0003t0005 a0001c0009t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0019 a0002c0002t0029 a0002c0004t0024 a0002c0005t0006 a0002c0005t0035 a0002c0010t0003 a0002c0017t0003 a0002c0032t0033 a0002c0037t0006 a0003c0020t0002 a0010c0036t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0177 others(59): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0199 a0001c0001t0001g0243 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0213 a0001c0001t0005g0315 a0001c0001t0006g0183 a0001c0001t0010g0144 a0001c0001t0013g0157 a0001c0001t0013g0185 a0001c0001t0013g0244 a0001c0001t0016g0156 a0001c0003t0002g0190 a0001c0003t0002g0204 a0001c0003t0005g0314 a0001c0009t0010g0206 a0002c0002t0001g0153 a0002c0002t0001g0176 a0002c0002t0001g0188 a0002c0002t0001g0194 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0002g0141 a0002c0002t0003g0110 a0002c0002t0003g0180 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0319 a0002c0002t0003g0320 a0002c0002t0004g0182 a0002c0002t0004g0193 a0002c0002t0004g0203 a0002c0002t0004g0207 a0002c0002t0004g0211 a0002c0002t0019g0145 a0002c0002t0029g0179 a0002c0004t0024g0189 a0002c0005t0006g0158 a0002c0005t0035g0148 a0002c0010t0003g0150 a0002c0017t0003g0186 a0002c0032t0033g0195 a0002c0037t0006g0146 a0003c0020t0002g0159 a0010c0036t0001g0187	62	320	0.1938	22	c.-50 others(33): Show c.-5013_-5012insCTTCAATCTATACCCATCTTCA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding		4782		chr6	TogoVar
SASH1_chr6_148337838_148557044	148368770	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02004.hp1 HG02004.hp2 others(7): Show HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp2 HG02080.hp1 HG02148.hp1 HG02630.hp1 HG02738.hp2 NA18984.hp1 NA19004.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0003c0006 a0003c0008	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0005t0006 a0003c0006t0001 a0003c0006t0002 a0003c0008t0003	a0001c0001t0001g0115 a0001c0001t0004g0018 a0002c0002t0001g0208 others(7): Show a0001c0001t0001g0115 a0001c0001t0004g0018 a0002c0002t0001g0208 a0002c0002t0003g0197 a0002c0002t0004g0207 a0002c0002t0004g0211 a0002c0005t0006g0212 a0003c0006t0001g0085 a0003c0006t0002g0062 a0003c0008t0003g0071	10	38	0.2632	22	c.157 others(41): Show c.157-21360_157-21339dupACACACACACACACACACACAC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CATTTCTT others(15): Show CATTTCTTTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02451.hp2 others(2): Show HG01884.hp1 HG02145.hp2 HG02451.hp2 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0007 a0001c0003t0014 a0001c0003t0005 a0001c0003t0007 a0001c0003t0014	a0001c0003t0005g0280 a0001c0003t0005g0285 a0001c0003t0007g0282 others(2): Show a0001c0003t0005g0280 a0001c0003t0005g0285 a0001c0003t0007g0282 a0001c0003t0007g0283 a0001c0003t0014g0088	5	122	0.0410	22	c.386 others(39): Show c.386+8671_386+8672insATTTCTTTTTCTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19			chr6	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	92	0.0109	22	c.300 others(37): Show c.300+533_300+534insGAAAGAAAGAAAGAAAGAAAGA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SATB1_chr3_18340377_18430339	18344358	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0091 a0001c0001t0007g0091	1	63	0.0159	22	c.47 others(33): Show c.4790_*4811dupAAAAAAAAAAAAAAAAAAAAAA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SATL1_chrX_85087284_85248779	85088104	T T	TTATACAT others(15): Show TTATACATATATGTATAAATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA19010.hp2 NA18995.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0007 a0001c0001t0003g0010	2	230	0.0087	22	c.42 others(33): Show c.4265_*4286dupTGTATTTATACATATATGTATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4179		chrX	TogoVar
SATL1_chrX_85087284_85248779	85118087	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00735.hp1 others(12): Show HG00140.hp1 HG00558.hp2 HG00735.hp1 HG01952.hp1 HG03195.hp2 HG03669.hp2 HG04199.hp1 HG04204.hp1 NA18961.hp1 NA19002.hp2 NA19004.hp1 NA19077.hp1 NA19082.hp1 NA19088.hp1 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0001 a0007c0005t0001 a0001c0001t0001 a0007c0005t0001	a0001c0001t0001g0091 a0001c0001t0001g0146 a0001c0001t0001g0172 others(12): Show a0001c0001t0001g0091 a0001c0001t0001g0146 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0212 a0007c0005t0001g0201	15	148	0.1014	22	c.-31 others(41): Show c.-312-8808_-312-8807insAAAAAAAAAAAAAAAAAAAAAA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SATL1_chrX_85087284_85248779	85200146	C C	CTTTTCCT others(15): Show CTTTTCCTCCTCCTCCGTTGTTG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	230	0.0043	22	c.-31 others(43): Show c.-313+24058_-313+24059insCAACAACGGAGGAGGAGGAAAA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	9989052	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0186 a0001c0003t0005g0186	1	221	0.0045	22	c.139 others(39): Show c.1395+444_1395+445insCATATATATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9994577	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp2 HG03225.hp1 HG02572.hp1 HG02922.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0007 a0001c0003t0005 a0001c0001t0002 a0001c0001t0007 a0001c0003t0005	a0001c0001t0002g0189 a0001c0001t0007g0212 a0001c0003t0005g0186 a0001c0001t0002g0189 a0001c0001t0007g0212 a0001c0003t0005g0186	3	141	0.0213	22	c.976 others(37): Show c.976-580_976-579insATATATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	9/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10063858	C C	CACACAGA others(15): Show CACACAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19066.hp1 NA18939.hp1 NA19066.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0021 a0003c0004t0003g0031 a0003c0004t0003g0021 a0003c0004t0003g0031	2	79	0.0253	22	c.142 others(41): Show c.142-20878_142-20877insCTCTCTCTCTCTCTCTCTGTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10063858	C C	CACAGAGA others(15): Show CACAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG02004.hp2 others(3): Show HG00735.hp2 HG01099.hp2 HG02004.hp2 HG03516.hp1 HG03704.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0004 a0001c0001t0003 a0002c0002t0001 a0002c0002t0004	a0001c0001t0003g0024 a0001c0001t0003g0026 a0002c0002t0001g0011 others(3): Show a0001c0001t0003g0024 a0001c0001t0003g0026 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0004g0009 a0002c0002t0004g0019	6	83	0.0723	22	c.142 others(41): Show c.142-20878_142-20877insCTCTCTCTCTCTCTCTCTCTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10166961	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18966.hp2 NA19056.hp2 NA18946.hp1 NA18966.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0029 a0001c0001t0002g0023 a0001c0001t0003g0025 a0001c0001t0001g0029 a0001c0001t0002g0023 a0001c0001t0003g0025	3	134	0.0224	22	c.141 others(41): Show c.141+26919_141+26940dupTGTGTGTGTGTGTGTGTGTGTG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10211014	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	5	0.2000	22	c.56- others(39): Show c.56-17028_56-17027insTTTTTTTTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10254900	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03098.hp1 HG03704.hp2 HG00423.hp2 HG03098.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0170 a0001c0001t0002g0130 a0001c0001t0003g0191 a0001c0001t0001g0170 a0001c0001t0002g0130 a0001c0001t0003g0191	3	6	0.5000	22	c.55+ others(39): Show c.55+39093_55+39114dupTTTTTTTTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK2_chr19_55523611_55542133	55527268	A A	AAGTCATG others(15): Show AAGTCATGGACACACATGCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02647.hp2 HG02809.hp1 others(1): Show HG01192.hp2 HG02647.hp2 HG02809.hp1 HG03486.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0003 a0012c0022 a0001c0001 a0003c0003 a0012c0022	a0001c0001t0017 a0003c0003t0017 a0003c0003t0028 others(1): Show a0001c0001t0017 a0003c0003t0017 a0003c0003t0028 a0012c0022t0017	a0001c0001t0017g0237 a0003c0003t0017g0239 a0003c0003t0028g0218 others(1): Show a0001c0001t0017g0237 a0003c0003t0017g0239 a0003c0003t0028g0218 a0012c0022t0017g0238	4	432	0.0093	22	c.24 others(33): Show c.2464_*2465insGTGTGCATGTGTGTCCATGACT	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		1342		chr19	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02145.hp2 HG02895.hp1 others(3): Show HG01516.hp1 HG02145.hp2 HG02895.hp1 HG03098.hp2 HG03209.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0018 a0001c0005t0006 others(2): Show a0001c0001t0004 a0001c0001t0018 a0001c0005t0006 a0001c0005t0016 a0001c0005t0026	a0001c0001t0004g0137 a0001c0001t0018g0210 a0001c0005t0006g0115 others(3): Show a0001c0001t0004g0137 a0001c0001t0018g0210 a0001c0005t0006g0115 a0001c0005t0016g0095 a0001c0005t0026g0100 a0001c0005t0026g0107	6	101	0.0594	22	c.403 others(39): Show c.4039+556_4039+577dupTTTTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1166231	A A	ACCCCAGA others(15): Show ACCCCAGATCCCAGACTTCAGAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(123): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18947.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010	a0001c0001 a0001c0002 a0001c0004 others(30): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0020 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0028 a0001c0032 a0001c0035 a0001c0038 a0001c0041 a0001c0043 a0002c0003 a0002c0008 a0003c0009 a0003c0014 a0003c0017 a0003c0021 a0004c0012 a0005c0022 a0006c0027 a0010c0033	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(35): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0012 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0011t0001 a0001c0013t0001 a0001c0015t0001 a0001c0016t0001 a0001c0018t0001 a0001c0020t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0028t0001 a0001c0032t0001 a0001c0035t0001 a0001c0038t0001 a0001c0041t0010 a0001c0043t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0008t0001 a0003c0009t0001 a0003c0014t0001 a0003c0017t0001 a0003c0021t0001 a0004c0012t0002 a0005c0022t0001 a0006c0027t0001 a0010c0033t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0073 others(123): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0003g0175 a0001c0001t0008g0106 a0001c0002t0001g0008 a0001c0002t0001g0040 a0001c0002t0001g0058 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0168 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0012g0181 a0001c0004t0001g0080 a0001c0004t0001g0112 a0001c0004t0001g0116 a0001c0004t0001g0119 a0001c0004t0001g0157 a0001c0004t0001g0160 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0005t0001g0091 a0001c0005t0001g0103 a0001c0005t0001g0115 a0001c0005t0001g0130 a0001c0005t0001g0131 a0001c0005t0001g0138 a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0006t0001g0039 a0001c0006t0001g0109 a0001c0006t0001g0117 a0001c0006t0001g0152 a0001c0006t0001g0155 a0001c0006t0001g0179 a0001c0007t0001g0028 a0001c0007t0001g0135 a0001c0007t0001g0146 a0001c0007t0001g0176 a0001c0007t0001g0177 a0001c0007t0001g0182 a0001c0007t0001g0185 a0001c0010t0001g0002 a0001c0011t0001g0077 a0001c0011t0001g0079 a0001c0011t0001g0104 a0001c0011t0001g0159 a0001c0013t0001g0089 a0001c0013t0001g0095 a0001c0013t0001g0102 a0001c0013t0001g0142 a0001c0013t0001g0183 a0001c0015t0001g0017 a0001c0015t0001g0108 a0001c0016t0001g0107 a0001c0018t0001g0149 a0001c0020t0001g0027 a0001c0023t0001g0139 a0001c0024t0001g0178 a0001c0025t0001g0081 a0001c0026t0001g0199 a0001c0028t0001g0191 a0001c0032t0001g0151 a0001c0035t0001g0153 a0001c0038t0001g0148 a0001c0041t0010g0093 a0001c0043t0001g0184 a0002c0003t0001g0041 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0122 a0002c0003t0001g0132 a0002c0003t0001g0140 a0002c0003t0003g0033 a0002c0003t0004g0118 a0002c0003t0004g0121 a0002c0008t0001g0113 a0002c0008t0001g0114 a0002c0008t0001g0120 a0002c0008t0001g0125 a0002c0008t0001g0126 a0002c0008t0001g0189 a0003c0009t0001g0141 a0003c0014t0001g0003 a0003c0014t0001g0133 a0003c0014t0001g0134 a0003c0017t0001g0087 a0003c0017t0001g0101 a0003c0021t0001g0071 a0004c0012t0002g0075 a0004c0012t0002g0158 a0005c0022t0001g0128 a0006c0027t0001g0174 a0010c0033t0002g0072	126	201	0.6269	22	c.-12 others(41): Show c.-127+7940_-127+7941insATCTGAAGTCTGGGATCTGGGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSN_chr19_35518367_35533311	35520352	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0003 a0003c0004t0001g0003	1	350	0.0029	22	c.31 others(33): Show c.3157_*3158insGAGAGAGAGAGAGAGAGAGAGA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3014		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	367	0.0027	22	c.31 others(33): Show c.3153_*3154insTATATATATATATATATATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0141 a0002c0002t0015g0141	1	359	0.0028	22	c.678 others(37): Show c.678-132_678-131insTATATATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(15): Show TACACACACACACATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0005 a0001c0004t0002g0005	1	150	0.0067	22	c.15 others(33): Show c.1585_*1586insACACACACACACATATATACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF4_chr21_31666000_31737118	31688114	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	28	0.0357	22	c.204 others(39): Show c.2043+171_2043+192dupTTTTTTTTTTTTTTTTTTTTTT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	16/19			chr21	TogoVar
SCAF4_chr21_31666000_31737118	31723629	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0321 a0001c0011t0001g0321	1	181	0.0055	22	c.30+ others(37): Show c.30+8033_30+8034insGCGCACACACACACACACACAC	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	1/19			chr21	TogoVar
SCAF8_chr6_154728416_154839221	154784120	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	87	0.0115	22	c.160 others(39): Show c.160-3724_160-3703dupATATATATATATATATATATAT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154784155	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	195	0.0051	22	c.160 others(39): Show c.160-3703_160-3702insATATATATATATATATATTTAT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154796353	T T	TTCCCTCT others(15): Show TTCCCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	244	0.0041	22	c.606 others(39): Show c.606+1216_606+1217insCCTCTCTCTCTCTCTCTCTCTC	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154796389	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	63	0.0159	22	c.606 others(39): Show c.606+1253_606+1254insCTCTCTCTCTCTCTCTCTGTCT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154796389	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG02080.hp2 others(6): Show HG01109.hp1 HG01496.hp2 HG02080.hp2 HG02896.hp2 HG03834.hp2 NA18951.hp2 NA18993.hp1 NA19079.hp1 NA19088.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0007c0010t0001	a0001c0001t0001g0071 a0001c0001t0001g0135 a0001c0001t0001g0169 others(6): Show a0001c0001t0001g0071 a0001c0001t0001g0135 a0001c0001t0001g0169 a0001c0001t0001g0201 a0001c0001t0001g0266 a0001c0001t0002g0073 a0001c0001t0002g0280 a0001c0001t0003g0267 a0007c0010t0001g0094	9	71	0.1268	22	c.606 others(39): Show c.606+1253_606+1254insCTCTCTCTCTCTCTGTCTGTCT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125042615	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19002.hp2 HG00621.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0285 a0001c0001t0005g0301 a0001c0001t0005g0285 a0001c0001t0005g0301	2	294	0.0068	22	c.231 others(41): Show c.231-12877_231-12876insCACACACACACACACACACACA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0063 a0001c0003t0063	a0001c0003t0063g0071 a0001c0003t0063g0071	1	69	0.0145	22	c.231 others(41): Show c.231-12896_231-12895insGTGTGTGTGTACACACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00733.hp1 others(19): Show HG00099.hp2 HG00140.hp1 HG00733.hp1 HG01517.hp1 HG01993.hp1 HG02083.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG03831.hp1 HG04184.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18972.hp2 NA18995.hp1 NA19002.hp1 NA19010.hp1 NA19078.hp2 NA19082.hp1 NA19091.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0003t0019 others(8): Show a0001c0001t0001 a0001c0003t0004 a0001c0003t0019 a0001c0003t0024 a0001c0003t0030 a0001c0003t0031 a0001c0003t0046 a0001c0003t0048 a0001c0003t0049 a0001c0003t0069 a0001c0003t0071	a0001c0001t0001g0076 a0001c0001t0001g0112 a0001c0003t0004g0026 others(19): Show a0001c0001t0001g0076 a0001c0001t0001g0112 a0001c0003t0004g0026 a0001c0003t0004g0060 a0001c0003t0004g0063 a0001c0003t0004g0068 a0001c0003t0004g0069 a0001c0003t0004g0072 a0001c0003t0004g0073 a0001c0003t0004g0116 a0001c0003t0004g0117 a0001c0003t0004g0124 a0001c0003t0004g0130 a0001c0003t0019g0118 a0001c0003t0024g0089 a0001c0003t0030g0119 a0001c0003t0031g0061 a0001c0003t0046g0036 a0001c0003t0048g0029 a0001c0003t0049g0095 a0001c0003t0069g0090 a0001c0003t0071g0027	22	90	0.2444	22	c.231 others(41): Show c.231-12896_231-12895insGTGTGTGTACACACACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125046196	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18954.hp2 NA19010.hp1 HG02056.hp2 NA18954.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0011 a0001c0003t0004 a0002c0002t0001 a0001c0001t0011 a0001c0003t0004 a0002c0002t0001	a0001c0001t0011g0107 a0001c0003t0004g0130 a0002c0002t0001g0241 a0001c0001t0011g0107 a0001c0003t0004g0130 a0002c0002t0001g0241	3	77	0.0390	22	c.230 others(39): Show c.230+9658_230+9679dupATATATATATATATATATATAT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106096	C C	CACAAAAA others(15): Show CACAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	278	0.0036	22	c.98+ others(39): Show c.98+36536_98+36537insTTTTTTTTTTTTTTTTTTTTGT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0226	1	49	0.0204	22	c.98+ others(39): Show c.98+36510_98+36511insATATATTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0246 a0002c0002t0001g0246	1	49	0.0204	22	c.98+ others(39): Show c.98+36510_98+36511insATATATATATTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar

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