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
SAMD9L_chr7_93125056_93153385	93128773	ATAACTTG others(5): Show ATAACTTGGGACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02109.hp2 HG01081.hp2 HG02109.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0020 a0005c0007t0020	a0005c0007t0020g0034 a0005c0007t0020g0034	2	402	0.0050	-12	c.24 others(23): Show c.2432_*2443delGGTCCCAAGTTA	SAMD9L	ENSG00000177409.12	transcript	ENST00000318238.9	protein_coding		1282		chr7	TogoVar
SAMD9_chr7_93094518_93122979	93094956	AACACACA others(5): Show AACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0109 a0001c0025t0001g0109	1	392	0.0026	-12	c.63 others(23): Show c.6360_*6371delGTGTGTGTGTGT	SAMD9	ENSG00000205413.8	transcript	ENST00000379958.3	protein_coding		4561		chr7	TogoVar
SAMHD1_chr20_36885229_36956708	36912889	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0277 a0001c0001t0030g0277	1	340	0.0029	-12	c.106 others(29): Show c.1063-349_1063-338delAAAAAAAAAAAA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	9/15			chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36939075	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	340	0.0029	-12	c.348 others(29): Show c.348+1952_348+1963delTTTTTTTTTTTT	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	3/15			chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36947310	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp1 NA18906.hp2 HG02559.hp1 HG02895.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0034 a0001c0001t0069 a0001c0004t0034 a0001c0001t0034 a0001c0001t0069 a0001c0004t0034	a0001c0001t0034g0014 a0001c0001t0069g0286 a0001c0004t0034g0015 a0001c0001t0034g0014 a0001c0001t0069g0286 a0001c0004t0034g0015	3	340	0.0088	-12	c.209 others(27): Show c.209-518_209-507delACACACACACAC	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36947393	TGATTTGG others(5): Show TGATTTGGAAGAG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0283 a0001c0001t0067g0283	1	340	0.0029	-12	c.209 others(27): Show c.209-601_209-590delCTCTTCCAAATC	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36947549	GGGGTGTG others(5): Show GGGGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0015 a0002c0005t0015	a0002c0005t0015g0340 a0002c0005t0015g0340	1	340	0.0029	-12	c.209 others(27): Show c.209-757_209-746delACACACACACCC	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36947551	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(107): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01261.hp1 HG01515.hp1 HG01516.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02602.hp2 HG02622.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03491.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18963.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19088.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(16): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0022 a0001c0001t0037 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0070 a0001c0001t0073	a0001c0001t0003g0131 a0001c0001t0003g0170 a0001c0001t0003g0176 others(107): Show a0001c0001t0003g0131 a0001c0001t0003g0170 a0001c0001t0003g0176 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0206 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0318 a0001c0001t0003g0324 a0001c0001t0003g0336 a0001c0001t0004g0161 a0001c0001t0004g0164 a0001c0001t0004g0171 a0001c0001t0004g0186 a0001c0001t0004g0197 a0001c0001t0004g0205 a0001c0001t0004g0209 a0001c0001t0004g0216 a0001c0001t0004g0222 a0001c0001t0004g0231 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0325 a0001c0001t0006g0001 a0001c0001t0006g0016 a0001c0001t0006g0168 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0006g0207 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0238 a0001c0001t0006g0241 a0001c0001t0007g0104 a0001c0001t0007g0128 a0001c0001t0007g0165 a0001c0001t0007g0172 a0001c0001t0007g0175 a0001c0001t0007g0183 a0001c0001t0007g0198 a0001c0001t0007g0204 a0001c0001t0007g0215 a0001c0001t0007g0240 a0001c0001t0007g0243 a0001c0001t0007g0332 a0001c0001t0008g0130 a0001c0001t0008g0159 a0001c0001t0008g0311 a0001c0001t0008g0312 a0001c0001t0008g0316 a0001c0001t0008g0320 a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0001t0008g0323 a0001c0001t0008g0326 a0001c0001t0008g0327 a0001c0001t0008g0330 a0001c0001t0008g0334 a0001c0001t0009g0135 a0001c0001t0009g0136 a0001c0001t0009g0203 a0001c0001t0009g0210 a0001c0001t0009g0212 a0001c0001t0009g0242 a0001c0001t0009g0319 a0001c0001t0009g0328 a0001c0001t0009g0333 a0001c0001t0010g0160 a0001c0001t0010g0169 a0001c0001t0010g0192 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0199 a0001c0001t0010g0236 a0001c0001t0010g0315 a0001c0001t0011g0126 a0001c0001t0011g0129 a0001c0001t0011g0177 a0001c0001t0011g0178 a0001c0001t0011g0180 a0001c0001t0011g0182 a0001c0001t0011g0184 a0001c0001t0011g0185 a0001c0001t0011g0190 a0001c0001t0018g0125 a0001c0001t0018g0127 a0001c0001t0018g0174 a0001c0001t0018g0194 a0001c0001t0018g0211 a0001c0001t0022g0166 a0001c0001t0022g0167 a0001c0001t0022g0173 a0001c0001t0022g0179 a0001c0001t0037g0213 a0001c0001t0041g0181 a0001c0001t0042g0133 a0001c0001t0043g0132 a0001c0001t0057g0208 a0001c0001t0059g0329 a0001c0001t0061g0239 a0001c0001t0070g0317 a0001c0001t0073g0331	110	340	0.3235	-12	c.209 others(27): Show c.209-759_209-748delACACACACACAC	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36948875	AAAAAAAG others(5): Show AAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02132.hp1 HG02622.hp1 others(6): Show HG00438.hp1 HG02132.hp1 HG02622.hp1 HG03098.hp1 HG03130.hp2 HG03579.hp2 HG04228.hp2 NA18906.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0027 a0001c0001t0040 a0001c0001t0069 a0001c0002t0046 a0002c0005t0015	a0001c0001t0002g0224 a0001c0001t0003g0131 a0001c0001t0015g0112 others(6): Show a0001c0001t0002g0224 a0001c0001t0003g0131 a0001c0001t0015g0112 a0001c0001t0015g0122 a0001c0001t0027g0111 a0001c0001t0040g0285 a0001c0001t0069g0286 a0001c0002t0046g0339 a0002c0005t0015g0340	9	340	0.0265	-12	c.209 others(29): Show c.209-2083_209-2072delCTTTTCTTTTTT	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAMSN1_chr21_14480228_14551315	14493574	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02970.hp1 HG02886.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0279 a0001c0002t0008g0024 a0001c0001t0001g0279 a0001c0002t0008g0024	2	408	0.0049	-12	c.919 others(29): Show c.919+4856_919+4867delGTGTGTGTGTGT	SAMSN1	ENSG00000155307.19	transcript	ENST00000400566.6	protein_coding	7/7			chr21	TogoVar
SAMSN1_chr21_14480228_14551315	14518570	CATTCACT others(5): Show CATTCACTGAATA	C C	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0327 a0001c0002t0001g0327	1	408	0.0025	-12	c.130 others(29): Show c.130-1541_130-1530delTATTCAGTGAAT	SAMSN1	ENSG00000155307.19	transcript	ENST00000400566.6	protein_coding	2/7			chr21	TogoVar
SAMSN1_chr21_14480228_14551315	14541965	CTGGGTAA others(5): Show CTGGGTAACAGAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp1 HG02258.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0157 a0001c0001t0001g0158	2	408	0.0049	-12	c.57+ others(27): Show c.57+4228_57+4239delTTCTGTTACCCA	SAMSN1	ENSG00000155307.19	transcript	ENST00000400566.6	protein_coding	1/7			chr21	TogoVar
SANBR_chr2_61060871_61129280	61072821	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0013 a0001c0003t0004g0013	1	346	0.0029	-12	c.338 others(27): Show c.338-619_338-608delTTTTTTTTTTTT	SANBR	ENSG00000162929.14	transcript	ENST00000402291.6	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
SAP130_chr2_127936222_128033059	127942990	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03688.hp2 HG00140.hp1 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0020 a0001c0002t0001g0022	2	350	0.0057	-12	c.290 others(29): Show c.2902-465_2902-454delATTTATTTATTT	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	19/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	127958635	TGAGAGAG others(5): Show TGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(97): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02083.hp1 HG02083.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02698.hp2 HG02717.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp2 NA18953.hp1 NA18954.hp1 NA18964.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18991.hp1 NA18998.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19077.hp2 NA19079.hp2 NA19083.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0001t0014 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0003t0001 a0001c0005t0001 a0001c0005t0006 a0001c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(94): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0136 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0001g0326 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0014g0131 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0005t0001g0252 a0001c0005t0001g0272 a0001c0005t0001g0307 a0001c0005t0006g0005 a0001c0013t0001g0273	100	350	0.2857	-12	c.206 others(31): Show c.2064-3303_2064-3292delTCTCTCTCTCTC	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	15/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128002832	ACTTGGGC others(5): Show ACTTGGGCCAGGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03239.hp2 HG03834.hp1 others(1): Show HG00323.hp1 HG03239.hp2 HG03834.hp1 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0012 a0001c0002 a0001c0010 a0001c0012	a0001c0002t0001 a0001c0010t0001 a0001c0012t0001 a0001c0002t0001 a0001c0010t0001 a0001c0012t0001	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0010t0001g0327 others(1): Show a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0010t0001g0327 a0001c0012t0001g0024	4	350	0.0114	-12	c.870 others(29): Show c.870-2390_870-2379delGCCTGGCCCAAG	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128027622	GCCGCCCG others(5): Show GCCGCCCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0013 a0001c0011t0013	a0001c0011t0013g0328 a0001c0011t0013g0328	1	350	0.0029	-12	c.-7+ others(25): Show c.-7+306_-7+317delGCGGGCGGGCGG	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	1/20			chr2	TogoVar
SAP18_chr13_21135119_21154097	21150909	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02717.hp2 others(4): Show HG01891.hp2 HG02055.hp1 HG02717.hp2 HG02922.hp1 HG03139.hp2 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0015 a0001c0002t0006g0071 a0001c0002t0006g0072 a0001c0002t0006g0015 a0001c0002t0006g0071 a0001c0002t0006g0072	7	426	0.0164	-12	c.35 others(23): Show c.3568_*3579delAAAAAAAAAAAA	SAP18	ENSG00000150459.13	transcript	ENST00000382533.9	protein_coding		1813		chr13	TogoVar
SAP25_chr7_100567228_100578900	100568486	AGCCCCGC others(5): Show AGCCCCGCCCCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	-12	c.37 others(23): Show c.3789_*3800delGTGGGGCGGGGC	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		3741		chr7	TogoVar
SAP25_chr7_100567228_100578900	100568500	GCCCCCCC others(5): Show GCCCCCCCGCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	-12	c.37 others(23): Show c.3775_*3786delGGGGCGGGGGGG	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		3727		chr7	TogoVar
SAP25_chr7_100567228_100578900	100570843	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 NA18975.hp2 NA18998.hp2 HG01167.hp2 NA18975.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	386	0.0078	-12	c.14 others(23): Show c.1432_*1443delTTTTTTTTTTTT	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		1384		chr7	TogoVar
SAP30BP_chr17_75662338_75713059	75674690	GTTTTTTG others(5): Show GTTTTTTGTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG02809.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0017 a0001c0001t0011 a0001c0001t0017	a0001c0001t0011g0338 a0001c0001t0017g0339 a0001c0001t0011g0338 a0001c0001t0017g0339	2	370	0.0054	-12	c.264 others(29): Show c.264+2834_264+2845delGTTTTTTTTTTT	SAP30BP	ENSG00000161526.15	transcript	ENST00000584667.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAP30BP_chr17_75662338_75713059	75686518	GAAAAAGA others(5): Show GAAAAAGAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp2 HG01884.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0276 a0001c0001t0004g0277	2	370	0.0054	-12	c.265 others(29): Show c.265-6912_265-6901delAAAAAAAAGAAA	SAP30BP	ENSG00000161526.15	transcript	ENST00000584667.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAP30BP_chr17_75662338_75713059	75710500	CAACGTGG others(5): Show CAACGTGGTGAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01884.hp2 HG02055.hp1 others(30): Show HG00738.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017	a0001c0001t0001g0162 a0001c0001t0001g0293 a0001c0001t0001g0297 others(30): Show a0001c0001t0001g0162 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0337 a0001c0001t0011g0338 a0001c0001t0014g0320 a0001c0001t0017g0339	33	370	0.0892	-12	c.39 others(23): Show c.3980_*3991delAACGTGGTGAAA	SAP30BP	ENSG00000161526.15	transcript	ENST00000584667.6	protein_coding		2442		chr17	TogoVar
SAP30L_chr5_154440997_154466053	154461700	CCCCTCCT others(5): Show CCCCTCCTGCTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	460	0.0022	-12	c.56 others(23): Show c.5673_*5684delCCCTCCTGCTGG	SAP30L	ENSG00000164576.12	transcript	ENST00000297109.11	protein_coding		648		chr5	TogoVar
SAPCD1_chr6_31757656_31769850	31768139	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00738.hp2 others(4): Show HG00099.hp1 HG00280.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG02258.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	417	0.0168	-12	c.36 others(23): Show c.3609_*3620delAAAAAAAAAAAA	SAPCD1	ENSG00000228727.10	transcript	ENST00000415669.4	protein_coding		3290		chr6	TogoVar
SAPCD2_chr9_137057127_137075557	137067774	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0100 a0001c0001t0023g0100	1	414	0.0024	-12	c.572 others(29): Show c.572-1412_572-1401delTTTTTTTTTTTT	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding	1/5			chr9	TogoVar
SAPCD2_chr9_137057127_137075557	137075330	GGTTGTCC others(5): Show GGTTGTCCTTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0141 a0003c0003t0007g0141	1	414	0.0024	-12	c.-48 others(23): Show c.-4882_-4871delGGCAAGGACAAC	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		4774		chr9	TogoVar
SAR1A_chr10_70142289_70175514	70151259	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp1 NA18967.hp2 NA19002.hp1 others(2): Show HG02165.hp1 NA18967.hp2 NA19002.hp1 NA19002.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0075 a0001c0001t0076 others(1): Show a0001c0001t0041 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077	a0001c0001t0041g0045 a0001c0001t0075g0207 a0001c0001t0076g0197 others(1): Show a0001c0001t0041g0045 a0001c0001t0075g0207 a0001c0001t0076g0197 a0001c0001t0077g0214	5	420	0.0119	-12	c.12 others(23): Show c.1205_*1216delTTTTTTTTTTTT	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	1205		chr10	TogoVar
SAR1A_chr10_70142289_70175514	70157401	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp1 others(165): Show HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0045 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0108 a0001c0001t0109 a0001c0001t0113 a0001c0001t0129 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0166	a0001c0001t0001g0079 a0001c0001t0002g0003 a0001c0001t0002g0005 others(125): Show a0001c0001t0001g0079 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0050 a0001c0001t0002g0234 a0001c0001t0002g0244 a0001c0001t0002g0276 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0291 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0048 a0001c0001t0004g0070 a0001c0001t0004g0198 a0001c0001t0004g0218 a0001c0001t0004g0236 a0001c0001t0004g0240 a0001c0001t0004g0250 a0001c0001t0004g0282 a0001c0001t0005g0007 a0001c0001t0005g0193 a0001c0001t0005g0195 a0001c0001t0005g0212 a0001c0001t0005g0245 a0001c0001t0005g0270 a0001c0001t0005g0272 a0001c0001t0005g0277 a0001c0001t0007g0049 a0001c0001t0007g0205 a0001c0001t0007g0208 a0001c0001t0007g0210 a0001c0001t0007g0232 a0001c0001t0007g0281 a0001c0001t0007g0288 a0001c0001t0007g0290 a0001c0001t0012g0042 a0001c0001t0012g0047 a0001c0001t0012g0199 a0001c0001t0012g0209 a0001c0001t0012g0283 a0001c0001t0017g0206 a0001c0001t0017g0211 a0001c0001t0017g0248 a0001c0001t0017g0249 a0001c0001t0017g0271 a0001c0001t0023g0196 a0001c0001t0023g0219 a0001c0001t0023g0230 a0001c0001t0023g0278 a0001c0001t0024g0194 a0001c0001t0024g0223 a0001c0001t0024g0239 a0001c0001t0024g0279 a0001c0001t0026g0052 a0001c0001t0026g0298 a0001c0001t0026g0302 a0001c0001t0028g0032 a0001c0001t0028g0158 a0001c0001t0029g0201 a0001c0001t0029g0215 a0001c0001t0029g0274 a0001c0001t0033g0041 a0001c0001t0033g0233 a0001c0001t0034g0217 a0001c0001t0034g0242 a0001c0001t0034g0269 a0001c0001t0035g0016 a0001c0001t0036g0231 a0001c0001t0036g0235 a0001c0001t0036g0287 a0001c0001t0037g0018 a0001c0001t0038g0051 a0001c0001t0038g0300 a0001c0001t0039g0053 a0001c0001t0039g0301 a0001c0001t0041g0045 a0001c0001t0045g0216 a0001c0001t0045g0275 a0001c0001t0054g0046 a0001c0001t0057g0030 a0001c0001t0058g0149 a0001c0001t0058g0153 a0001c0001t0068g0200 a0001c0001t0070g0192 a0001c0001t0071g0229 a0001c0001t0075g0207 a0001c0001t0076g0197 a0001c0001t0077g0214 a0001c0001t0093g0150 a0001c0001t0094g0154 a0001c0001t0095g0155 a0001c0001t0096g0156 a0001c0001t0097g0151 a0001c0001t0098g0148 a0001c0001t0099g0157 a0001c0001t0101g0273 a0001c0001t0102g0191 a0001c0001t0103g0237 a0001c0001t0104g0238 a0001c0001t0108g0159 a0001c0001t0109g0152 a0001c0001t0113g0243 a0001c0001t0129g0202 a0001c0001t0133g0268 a0001c0001t0134g0203 a0001c0001t0135g0204 a0001c0001t0136g0280 a0001c0001t0137g0253 a0001c0001t0138g0147 a0001c0001t0139g0220 a0001c0001t0140g0228 a0001c0001t0141g0246 a0001c0001t0142g0213 a0001c0001t0143g0221 a0001c0001t0144g0222 a0001c0001t0145g0224 a0001c0001t0146g0241 a0001c0001t0147g0225 a0001c0001t0148g0247 a0001c0001t0149g0226 a0001c0001t0162g0227 a0001c0001t0163g0299 a0001c0001t0164g0297 a0001c0001t0166g0304	168	420	0.4000	-12	c.348 others(27): Show c.348+351_348+362delTTTTTTTTTTTT	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	5/6			chr10	TogoVar
SAR1B_chr5_134596149_134637828	134612641	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18994.hp2 NA20300.hp2 HG02615.hp2 NA18994.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0242 a0001c0001t0013g0129 a0001c0001t0013g0292 a0001c0001t0001g0242 a0001c0001t0013g0129 a0001c0001t0013g0292	3	322	0.0093	-12	c.244 others(25): Show c.244+38_244+49delTTTTTTTTTTTT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	4/6			chr5	TogoVar
SAR1B_chr5_134596149_134637828	134613773	GGCCATTA others(5): Show GGCCATTATTTCC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	322	0.0031	-12	c.179 others(29): Show c.179-1029_179-1018delGGAAATAATGGC	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	3/6			chr5	TogoVar
SAR1B_chr5_134596149_134637828	134614592	GAGCTTTA others(5): Show GAGCTTTACCCAT	G G	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	322	0.0031	-12	c.179 others(29): Show c.179-1848_179-1837delATGGGTAAAGCT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	3/6			chr5	TogoVar
SAR1B_chr5_134596149_134637828	134626298	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01981.hp2 HG02683.hp2 others(4): Show HG01167.hp2 HG01981.hp2 HG02683.hp2 HG02735.hp1 HG03490.hp1 HG03492.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016	a0001c0001t0001g0255 a0001c0001t0002g0081 a0001c0001t0002g0224 others(4): Show a0001c0001t0001g0255 a0001c0001t0002g0081 a0001c0001t0002g0224 a0001c0001t0012g0083 a0001c0001t0012g0225 a0001c0001t0013g0129 a0001c0001t0016g0082	7	322	0.0217	-12	c.-18 others(29): Show c.-18-2273_-18-2262delTTTTTTTTTTTT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	1/6			chr5	TogoVar
SAR1B_chr5_134596149_134637828	134627801	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG01358.hp1 others(18): Show HG00558.hp1 HG00673.hp2 HG01358.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp1 HG02145.hp2 HG02922.hp2 HG02965.hp1 HG03209.hp2 NA18522.hp2 NA18967.hp2 NA18978.hp1 NA18988.hp1 NA18992.hp1 NA19007.hp2 NA19054.hp1 NA19070.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0004 a0001c0001t0025	a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0011 others(14): Show a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0016 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0025g0289	21	322	0.0652	-12	c.-18 others(29): Show c.-18-3776_-18-3765delATTTATTTATTT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	1/6			chr5	TogoVar
SARAF_chr8_30058003_30088064	30083751	TTTCATTC others(5): Show TTTCATTCATTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	360	0.0028	-12	c.-81 others(21): Show c.-814_-803delTGAATGAATGAA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding		688		chr8	TogoVar
SARDH_chr9_133658560_133743352	133668077	GCAGGTAC others(5): Show GCAGGTACTTCAT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0056 a0003c0056	a0003c0056t0004 a0003c0056t0004	a0003c0056t0004g0037 a0003c0056t0004g0037	1	262	0.0038	-12	c.249 others(31): Show c.2496-1219_2496-1208delATGAAGTACCTG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668294	CCTCCCTC others(5): Show CCTCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0058 a0003c0058	a0003c0058t0003 a0003c0058t0003	a0003c0058t0003g0161 a0003c0058t0003g0161	1	262	0.0038	-12	c.249 others(31): Show c.2496-1436_2496-1425delAGGGAGAGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133716913	ATCAGGGA others(5): Show ATCAGGGAAGGTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(84): Show HG00099.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01517.hp2 HG01943.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02896.hp2 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18943.hp2 NA18974.hp1 NA18980.hp1 NA18983.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19059.hp1 NA19060.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp2 NA19084.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0014	a0001c0001 a0001c0006 a0001c0007 others(15): Show a0001c0001 a0001c0006 a0001c0007 a0001c0016 a0001c0030 a0001c0031 a0001c0048 a0001c0051 a0002c0002 a0002c0014 a0002c0020 a0003c0003 a0003c0009 a0003c0022 a0003c0032 a0003c0049 a0006c0036 a0014c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0006t0001 a0001c0007t0001 a0001c0016t0002 a0001c0016t0003 a0001c0030t0002 a0001c0031t0002 a0001c0048t0002 a0001c0051t0002 a0002c0002t0001 a0002c0002t0003 a0002c0014t0001 a0002c0020t0001 a0002c0020t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0009t0001 a0003c0009t0002 a0003c0022t0004 a0003c0032t0001 a0003c0049t0003 a0006c0036t0007 a0014c0039t0001	a0001c0001t0001g0078 a0001c0001t0001g0131 a0001c0001t0001g0132 others(84): Show a0001c0001t0001g0078 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0258 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0211 a0001c0001t0002g0247 a0001c0001t0003g0047 a0001c0001t0003g0164 a0001c0001t0003g0180 a0001c0001t0003g0251 a0001c0001t0009g0202 a0001c0006t0001g0173 a0001c0007t0001g0077 a0001c0007t0001g0159 a0001c0007t0001g0162 a0001c0007t0001g0167 a0001c0007t0001g0175 a0001c0016t0002g0249 a0001c0016t0003g0174 a0001c0016t0003g0187 a0001c0030t0002g0231 a0001c0030t0002g0241 a0001c0031t0002g0243 a0001c0031t0002g0245 a0001c0048t0002g0244 a0001c0051t0002g0032 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0190 a0002c0002t0001g0206 a0002c0002t0003g0046 a0002c0002t0003g0129 a0002c0002t0003g0163 a0002c0002t0003g0168 a0002c0014t0001g0189 a0002c0014t0001g0203 a0002c0020t0001g0181 a0002c0020t0003g0207 a0003c0003t0001g0195 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0002g0242 a0003c0003t0003g0045 a0003c0003t0003g0048 a0003c0003t0003g0135 a0003c0003t0003g0158 a0003c0003t0003g0197 a0003c0003t0004g0074 a0003c0003t0004g0248 a0003c0009t0001g0058 a0003c0009t0001g0157 a0003c0009t0002g0246 a0003c0009t0002g0250 a0003c0022t0004g0254 a0003c0032t0001g0142 a0003c0049t0003g0170 a0006c0036t0007g0054 a0014c0039t0001g0128	87	262	0.3321	-12	c.115 others(29): Show c.1150+401_1150+412delGACCTTCCCTGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	8/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133722642	GCTCTCTC others(5): Show GCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0175 a0001c0007t0001g0175	1	262	0.0038	-12	c.916 others(29): Show c.916-3612_916-3601delAGAGAGAGAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133734352	TTCATTCA others(5): Show TTCATTCATTCAC	T T	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	262	0.0038	-12	c.-30 others(27): Show c.-30-161_-30-150delGTGAATGAATGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	1/20			chr9	TogoVar
SARNP_chr12_55752270_55822724	55794957	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	276	0.0036	-12	c.304 others(25): Show c.304-89_304-78delTTTTTTTTTTTT	SARNP	ENSG00000205323.9	transcript	ENST00000336133.8	protein_coding	5/10			chr12	TogoVar
SARS1_chr1_109208918_109243182	109222002	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03942.hp1 HG01192.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0104 a0001c0001t0001g0116	2	402	0.0050	-12	c.137 others(29): Show c.137-1974_137-1963delATATATATTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109222004	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02080.hp1 HG03834.hp1 others(5): Show HG01346.hp1 HG02080.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp2 NA18955.hp1 NA18989.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0073 a0001c0001t0001g0092 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0073 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0001g0226	8	402	0.0199	-12	c.137 others(29): Show c.137-1972_137-1961delATATATTTTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109222006	ATATATTT others(5): Show ATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03195.hp1 HG02683.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0127 a0001c0001t0001g0100 a0001c0001t0001g0127	2	402	0.0050	-12	c.137 others(29): Show c.137-1970_137-1959delATATTTTTTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109222010	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	402	0.0025	-12	c.137 others(29): Show c.137-1945_137-1934delTTTTTTTTTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109241479	CACCTCCG others(5): Show CACCTCCGAGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	402	0.0025	-12	c.35 others(23): Show c.3592_*3603delACCTCCGAGAGA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding		3298		chr1	TogoVar
SARS2_chr19_38910266_38935763	38921004	CAGACACA others(5): Show CAGACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01256.hp2 HG01975.hp2 HG00642.hp1 HG01256.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137	3	420	0.0071	-12	c.589 others(27): Show c.589+376_589+387delCTGTGTGTGTCT	SARS2	ENSG00000104835.15	transcript	ENST00000221431.11	protein_coding	5/15			chr19	TogoVar
SARS2_chr19_38910266_38935763	38921058	CACACATA others(5): Show CACACATACAGAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02451.hp1 others(26): Show HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp1 NA19060.hp1 NA19090.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0002c0003t0004 others(1): Show a0001c0001t0002 a0002c0003t0002 a0002c0003t0004 a0002c0003t0010	a0001c0001t0002g0053 a0001c0001t0002g0115 a0001c0001t0002g0123 others(17): Show a0001c0001t0002g0053 a0001c0001t0002g0115 a0001c0001t0002g0123 a0002c0003t0002g0019 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0182 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0192 a0002c0003t0002g0193 a0002c0003t0004g0024 a0002c0003t0004g0047 a0002c0003t0004g0191 a0002c0003t0010g0184	29	420	0.0691	-12	c.589 others(27): Show c.589+322_589+333delATCTGTATGTGT	SARS2	ENSG00000104835.15	transcript	ENST00000221431.11	protein_coding	5/15			chr19	TogoVar
SASH1_chr6_148337838_148557044	148339275	CTCAGATG others(5): Show CTCAGATGATCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0089 a0002c0004t0003g0089	1	322	0.0031	-12	c.-37 others(23): Show c.-3792_-3781delTCAGATGATCCT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding		3562		chr6	TogoVar

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