Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
SIRT1_chr10_67879656_67923390	67881945	GTTCTTTT others(5): Show GTTCTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02280.hp2 HG02486.hp1 others(8): Show HG01081.hp1 HG02280.hp2 HG02486.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0029 a0001c0001t0003 a0001c0001t0005 a0001c0001t0029	a0001c0001t0003g0118 a0001c0001t0005g0008 a0001c0001t0005g0111 others(7): Show a0001c0001t0003g0118 a0001c0001t0005g0008 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0029g0008	11	410	0.0268	-12	c.-27 others(23): Show c.-2776_-2765delTTCTTTTTTTTT	SIRT1	ENSG00000096717.12	transcript	ENST00000212015.11	protein_coding		2710		chr10	TogoVar
SIRT2_chr19_38873560_38904618	38904084	AAAATAAA others(5): Show AAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0003c0008 a0005c0010 a0006c0012 a0007c0007 a0008c0005 a0009c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0003c0008t0004 a0005c0010t0001 a0006c0012t0002 a0007c0007t0002 a0008c0005t0001 a0009c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(252): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0064 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0003g0007 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0085 a0001c0001t0003g0091 a0001c0001t0003g0159 a0001c0001t0003g0180 a0001c0001t0003g0188 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0269 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0315 a0001c0001t0004g0021 a0001c0001t0004g0057 a0001c0001t0004g0059 a0001c0001t0004g0066 a0001c0001t0004g0148 a0001c0001t0004g0154 a0001c0001t0004g0177 a0001c0001t0004g0301 a0001c0001t0006g0135 a0001c0001t0008g0189 a0001c0001t0009g0191 a0001c0003t0001g0133 a0002c0002t0001g0264 a0002c0002t0002g0121 a0003c0008t0004g0139 a0005c0010t0001g0147 a0006c0012t0002g0168 a0007c0007t0002g0294 a0008c0005t0001g0183 a0009c0004t0002g0055	337	426	0.7911	-12	c.-45 others(23): Show c.-4575_-4564delATTTATTTATTT	SIRT2	ENSG00000068903.21	transcript	ENST00000249396.12	protein_coding		4467		chr19	TogoVar
SIRT3_chr11_210030_241342	214322	CCTCGGAC others(5): Show CCTCGGACCCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	414	0.0024	-12	c.23 others(23): Show c.2364_*2375delTCAGGGTCCGAG	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding		707		chr11	TogoVar
SIRT4_chr12_120297321_120318249	120304833	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	380	0.0026	-12	c.497 others(27): Show c.497+777_497+788delATTTTTTTTTTT	SIRT4	ENSG00000089163.4	transcript	ENST00000202967.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
SIRT5_chr6_13569601_13620158	13611205	GTGTATAT others(5): Show GTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG01071.hp2 others(23): Show HG00597.hp1 HG00609.hp2 HG01071.hp2 HG03831.hp1 HG03927.hp1 HG04204.hp1 NA18941.hp1 NA18945.hp2 NA18959.hp2 NA18965.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18998.hp1 NA19006.hp1 NA19009.hp2 NA19065.hp1 NA19068.hp1 NA19079.hp1 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0046 others(1): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0046 a0001c0001t0047	a0001c0001t0005g0001 a0001c0001t0005g0019 a0001c0001t0005g0056 others(13): Show a0001c0001t0005g0001 a0001c0001t0005g0019 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0076 a0001c0001t0005g0094 a0001c0001t0016g0145 a0001c0001t0046g0059 a0001c0001t0047g0055	26	394	0.0660	-12	c.858 others(27): Show c.858-583_858-572delGTATATATATAT	SIRT5	ENSG00000124523.17	transcript	ENST00000606117.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
SIRT5_chr6_13569601_13620158	13611230	TATATATA others(5): Show TATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0078 a0006c0008t0004g0078	1	394	0.0025	-12	c.858 others(27): Show c.858-558_858-547delTATATACACACA	SIRT5	ENSG00000124523.17	transcript	ENST00000606117.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
SIT1_chr9_35644295_35655931	35646301	CTCCCCCT others(5): Show CTCCCCCTGAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(105): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00544.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18971.hp2 NA18993.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp1 NA19060.hp2 NA19068.hp2 NA19080.hp1 NA19083.hp1 NA19086.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0005 a0001c0002t0001g0010	108	434	0.2489	-12	c.35 others(23): Show c.3535_*3546delCCCTCAGGGGGA	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		2993		chr9	TogoVar
SIT1_chr9_35644295_35655931	35647667	TGAGAGAG others(5): Show TGAGAGAGAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-12	c.21 others(23): Show c.2169_*2180delTCTCTCTCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SIT1_chr9_35644295_35655931	35654331	TCTCACAC others(5): Show TCTCACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	-12	c.-34 others(23): Show c.-3490_-3479delTGTGTGTGTGAG	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		3401		chr9	TogoVar
SIT1_chr9_35644295_35655931	35655455	CATTTATT others(5): Show CATTTATTTATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01891.hp2 HG02258.hp2 others(8): Show HG01074.hp2 HG01891.hp2 HG02258.hp2 HG02615.hp2 HG02647.hp1 HG02965.hp1 HG02970.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	11	434	0.0254	-12	c.-46 others(23): Show c.-4614_-4603delAAATAAATAAAT	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		4525		chr9	TogoVar
SIX1_chr14_60638421_60654477	60652951	GCAGCAGC others(5): Show GCAGCAGCCCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0030 a0001c0001t0045g0030	1	392	0.0026	-12	c.-37 others(23): Show c.-3774_-3763delGGTGGGCTGCTG	SIX1	ENSG00000126778.12	transcript	ENST00000645694.3	protein_coding		3475		chr14	TogoVar
SIX2_chr2_45000182_45014452	45011308	GCAGAAAG others(5): Show GCAGAAAGGGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	438	0.0023	-12	c.-22 others(23): Show c.-2210_-2199delTTCCCCTTTCTG	SIX2	ENSG00000170577.8	transcript	ENST00000303077.7	protein_coding		1857		chr2	TogoVar
SIX3_chr2_44936702_44951071	44950153	TACACACA others(5): Show TACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 NA18939.hp1 NA18953.hp2 others(6): Show HG03710.hp2 NA18939.hp1 NA18953.hp2 NA18956.hp1 NA18979.hp1 NA18982.hp1 NA18994.hp1 NA18997.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0022 a0001c0003t0011 a0001c0001t0003 a0001c0001t0022 a0001c0003t0011	a0001c0001t0003g0003 a0001c0001t0022g0003 a0001c0003t0011g0005 a0001c0001t0003g0003 a0001c0001t0022g0003 a0001c0003t0011g0005	9	448	0.0201	-12	c.53 others(23): Show c.5394_*5405delACACACACACAC	SIX3	ENSG00000138083.5	transcript	ENST00000260653.5	protein_coding		4083		chr2	TogoVar
SIX3_chr2_44936702_44951071	44950863	GCACGCAC others(5): Show GCACGCACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp2 others(157): Show HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19059.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0001t0037 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0058 a0001c0001t0065 a0001c0002t0006 a0001c0003t0011 a0001c0003t0032	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0007g0001 a0001c0001t0009g0001 a0001c0001t0009g0011 a0001c0001t0010g0001 a0001c0001t0012g0003 a0001c0001t0013g0001 a0001c0001t0013g0002 a0001c0001t0014g0002 a0001c0001t0015g0002 a0001c0001t0020g0007 a0001c0001t0021g0002 a0001c0001t0021g0017 a0001c0001t0022g0003 a0001c0001t0023g0003 a0001c0001t0024g0003 a0001c0001t0025g0003 a0001c0001t0026g0002 a0001c0001t0027g0001 a0001c0001t0028g0003 a0001c0001t0029g0004 a0001c0001t0031g0001 a0001c0001t0035g0004 a0001c0001t0037g0001 a0001c0001t0041g0001 a0001c0001t0043g0001 a0001c0001t0045g0002 a0001c0001t0047g0001 a0001c0001t0052g0002 a0001c0001t0053g0001 a0001c0001t0055g0003 a0001c0001t0058g0003 a0001c0001t0065g0004 a0001c0002t0006g0004 a0001c0003t0011g0005 a0001c0003t0032g0005	160	448	0.3571	-12	c.61 others(23): Show c.6104_*6115delCACGCACACACA	SIX3	ENSG00000138083.5	transcript	ENST00000260653.5	protein_coding		4793		chr2	TogoVar
SIX3_chr2_44936702_44951071	44950867	GCACACAC others(5): Show GCACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	-12	c.61 others(23): Show c.6108_*6119delCACACACACACA	SIX3	ENSG00000138083.5	transcript	ENST00000260653.5	protein_coding		4797		chr2	TogoVar
SIX5_chr19_45759785_45774252	45761423	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	-12	c.40 others(23): Show c.4066_*4077delAAAAAAAAAAAA	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		3361		chr19	TogoVar
SIX5_chr19_45759785_45774252	45770204	CCAGCAGC others(5): Show CCAGCAGCAGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02698.hp2 HG04228.hp1 others(3): Show HG02523.hp2 HG02698.hp2 HG04228.hp1 NA18966.hp1 NA18995.hp1 NA19083.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0003c0003t0001g0003 a0001c0001t0001g0001 a0003c0003t0001g0003	6	414	0.0145	-12	c.-13 others(23): Show c.-1372_-1361delCTGCTGCTGCTG	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		953		chr19	TogoVar
SI_chr3_164973898_165083496	164989361	AAAGAAAG others(5): Show AAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18906.hp2 HG02922.hp2 NA18906.hp2	a0002 a0005 a0002 a0005	a0002c0006 a0005c0005 a0002c0006 a0005c0005	a0002c0006t0003 a0005c0005t0003 a0002c0006t0003 a0005c0005t0003	a0002c0006t0003g0258 a0005c0005t0003g0203 a0002c0006t0003g0258 a0005c0005t0003g0203	2	266	0.0075	-12	c.510 others(31): Show c.5108+1980_5108+1991delCCTTTCTTTCTT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	44/47			chr3	TogoVar
SI_chr3_164973898_165083496	164989377	AAAGAAAG others(5): Show AAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01515.hp2 HG01952.hp1 others(14): Show HG01261.hp2 HG01515.hp2 HG01952.hp1 HG02055.hp2 HG02698.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03225.hp2 HG03239.hp1 HG03540.hp1 HG03540.hp2 HG03942.hp2 NA18992.hp2 NA19083.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0004c0004 a0005c0005 others(2): Show a0001c0001 a0004c0004 a0005c0005 a0005c0008 a0006c0007	a0001c0001t0001 a0004c0004t0004 a0005c0005t0001 others(2): Show a0001c0001t0001 a0004c0004t0004 a0005c0005t0001 a0005c0008t0001 a0006c0007t0001	a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0062 others(14): Show a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0152 a0004c0004t0004g0022 a0004c0004t0004g0136 a0004c0004t0004g0151 a0005c0005t0001g0165 a0005c0008t0001g0254 a0006c0007t0001g0155	17	266	0.0639	-12	c.510 others(31): Show c.5108+1964_5108+1975delCCTTTCTTTCTT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	44/47			chr3	TogoVar
SI_chr3_164973898_165083496	165073170	TTCTCTCT others(5): Show TTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01358.hp2 HG02055.hp2 others(11): Show HG01069.hp1 HG01358.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp1 HG02622.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02970.hp2 HG03471.hp1 HG03942.hp2 NA18955.hp1 NA19030.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0006 a0020	a0002c0002 a0002c0006 a0003c0009 others(3): Show a0002c0002 a0002c0006 a0003c0009 a0005c0005 a0006c0007 a0020c0020	a0002c0002t0002 a0002c0006t0007 a0003c0009t0001 others(4): Show a0002c0002t0002 a0002c0006t0007 a0003c0009t0001 a0005c0005t0001 a0006c0007t0001 a0006c0007t0003 a0020c0020t0003	a0002c0002t0002g0206 a0002c0002t0002g0244 a0002c0006t0007g0008 others(11): Show a0002c0002t0002g0206 a0002c0002t0002g0244 a0002c0006t0007g0008 a0003c0009t0001g0180 a0005c0005t0001g0164 a0005c0005t0001g0165 a0005c0005t0001g0166 a0005c0005t0001g0167 a0005c0005t0001g0205 a0006c0007t0001g0155 a0006c0007t0001g0158 a0006c0007t0003g0154 a0006c0007t0003g0156 a0020c0020t0003g0157	14	266	0.0526	-12	c.255 others(29): Show c.255+1349_255+1360delGAGAGAGAGAGA	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	3/47			chr3	TogoVar
SKA1_chr18_50370046_50399168	50395359	GTCTTTGT others(5): Show GTCTTTGTCTTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02109.hp1 others(13): Show HG01243.hp1 HG01884.hp2 HG02109.hp1 HG02145.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03516.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0017 a0001c0004t0020 others(1): Show a0001c0004t0006 a0001c0004t0017 a0001c0004t0020 a0001c0004t0026	a0001c0004t0006g0010 a0001c0004t0006g0030 a0001c0004t0006g0044 others(7): Show a0001c0004t0006g0010 a0001c0004t0006g0030 a0001c0004t0006g0044 a0001c0004t0006g0096 a0001c0004t0006g0149 a0001c0004t0006g0154 a0001c0004t0017g0010 a0001c0004t0017g0097 a0001c0004t0020g0098 a0001c0004t0026g0010	16	387	0.0413	-12	c.31 others(23): Show c.3113_*3124delTCTTTGTCTTCT	SKA1	ENSG00000154839.10	transcript	ENST00000285116.8	protein_coding		1192		chr18	TogoVar
SKA2_chr17_59104857_59160186	59135308	GTCTTTTT others(5): Show GTCTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	294	0.0034	-12	c.34- others(27): Show c.34-3953_34-3942delAAAAAAAAAAGA	SKA2	ENSG00000182628.13	transcript	ENST00000330137.12	protein_coding	1/3			chr17	TogoVar
SKA2_chr17_59104857_59160186	59135310	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(132): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18965.hp2 NA18970.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp2 NA19030.hp1 NA19055.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp1 NA19082.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0002c0002t0005	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013 others(123): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0119 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0219 a0001c0001t0002g0257 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0169 a0001c0001t0003g0197 a0001c0001t0003g0220 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0162 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0173 a0001c0001t0005g0204 a0001c0001t0005g0209 a0001c0001t0005g0253 a0001c0001t0007g0009 a0001c0001t0007g0157 a0001c0001t0007g0214 a0001c0001t0008g0191 a0001c0001t0008g0234 a0001c0001t0010g0176 a0001c0001t0010g0212 a0001c0001t0013g0232 a0001c0001t0015g0184 a0001c0001t0018g0164 a0001c0001t0019g0215 a0001c0001t0020g0033 a0001c0001t0021g0031 a0001c0001t0022g0276 a0002c0002t0005g0227	135	294	0.4592	-12	c.34- others(27): Show c.34-3955_34-3944delAAAAAAAAAAAA	SKA2	ENSG00000182628.13	transcript	ENST00000330137.12	protein_coding	1/3			chr17	TogoVar
SKA2_chr17_59104857_59160186	59147377	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	294	0.0034	-12	c.33+ others(27): Show c.33+7742_33+7753delGTGTGTGTGTGT	SKA2	ENSG00000182628.13	transcript	ENST00000330137.12	protein_coding	1/3			chr17	TogoVar
SKA3_chr13_21148595_21181552	21150909	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02717.hp1 others(4): Show HG01891.hp2 HG02055.hp1 HG02717.hp1 HG02922.hp1 HG03139.hp1 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0093 a0001c0001t0003g0094 others(2): Show a0001c0001t0003g0021 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096	7	378	0.0185	-12	c.42 others(23): Show c.4229_*4240delTTTTTTTTTTTT	SKA3	ENSG00000165480.16	transcript	ENST00000314759.6	protein_coding		2685		chr13	TogoVar
SKAP1_chr17_48128442_48435214	48153038	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01257.hp2 others(21): Show HG01070.hp1 HG01071.hp1 HG01257.hp2 HG02602.hp2 HG02647.hp2 HG03195.hp2 HG03239.hp1 HG04199.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18955.hp2 NA18977.hp1 NA18978.hp1 NA18989.hp1 NA18995.hp1 NA19005.hp1 NA19010.hp2 NA19057.hp2 NA19074.hp1 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 others(21): Show a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0060 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0252 a0001c0003t0001g0276	24	292	0.0822	-12	c.978 others(29): Show c.978+9419_978+9430delATGTGTGTGTGT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	11/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48165379	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	292	0.0034	-12	c.878 others(29): Show c.878-2822_878-2811delGAAAGAAAGAAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	10/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48186454	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02895.hp1 others(1): Show HG01243.hp1 HG02572.hp1 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 others(1): Show a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247	4	292	0.0137	-12	c.442 others(29): Show c.442+1377_442+1388delTAAATAAATAAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	6/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48321347	CATTATTA others(5): Show CATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(67): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01884.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02145.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02895.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp2 NA18955.hp2 NA18965.hp2 NA18966.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18989.hp1 NA18995.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19083.hp2 NA19091.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(67): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0234 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0004g0001 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0060 a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0085 a0001c0003t0001g0086 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0074 a0002c0002t0001g0104 a0002c0002t0001g0112 a0002c0002t0001g0113	70	292	0.2397	-12	c.280 others(31): Show c.280+24546_280+24557delAATAATAATAAT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48353927	AAAGAAGA others(5): Show AAAGAAGAAGAGG	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	292	0.0034	-12	c.179 others(29): Show c.179-7933_179-7922delCCTCTTCTTCTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	3/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48371654	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp1 HG00741.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0012 a0002c0002t0001g0014	2	292	0.0069	-12	c.153 others(29): Show c.153-7852_153-7841delTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	2/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48405392	CCTTTCTT others(5): Show CCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp2 HG02074.hp1 others(10): Show HG00423.hp2 HG01070.hp2 HG02074.hp1 HG02129.hp1 HG02155.hp2 NA18941.hp1 NA18950.hp1 NA18962.hp1 NA18969.hp2 NA18978.hp2 NA18994.hp1 NA19000.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 others(10): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0191	13	292	0.0445	-12	c.47- others(27): Show c.47-8619_47-8608delAAAGAAAGAAAG	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48405446	TTTCTTTT others(5): Show TTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00741.hp2 others(16): Show HG00280.hp1 HG00639.hp2 HG00741.hp2 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG02004.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02886.hp1 HG02895.hp2 HG03209.hp2 HG03540.hp2 NA18906.hp2 NA19043.hp1 NA19065.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0002c0004t0001 a0004c0007t0001	a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0233 others(16): Show a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0285 a0001c0005t0001g0217 a0002c0002t0001g0053 a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0095 a0002c0002t0001g0244 a0002c0004t0001g0207 a0002c0004t0001g0209 a0002c0004t0001g0216 a0002c0004t0001g0223 a0002c0004t0001g0228 a0002c0004t0001g0230 a0004c0007t0001g0226	19	292	0.0651	-12	c.47- others(27): Show c.47-8673_47-8662delGAAAGAAAAGAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48421296	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	292	0.0034	-12	c.46+ others(27): Show c.46+8767_46+8778delAAAAAAAAAAAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP2_chr7_26662068_26869590	26683535	TGGAAGGA others(5): Show TGGAAGGAAGGAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02886.hp1 others(5): Show HG01081.hp1 HG01891.hp2 HG02886.hp1 HG03195.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0112 a0004c0004t0002g0113 a0004c0004t0002g0114 others(5): Show a0004c0004t0002g0112 a0004c0004t0002g0113 a0004c0004t0002g0114 a0004c0004t0002g0115 a0004c0004t0002g0116 a0004c0004t0002g0184 a0004c0004t0002g0185 a0004c0004t0002g0187	8	296	0.0270	-12	c.987 others(29): Show c.987+1189_987+1200delTTCCTTCCTTCC	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	11/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26701746	TAAATAAA others(5): Show TAAATAAATAAAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00558.hp2 others(94): Show HG00140.hp2 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02300.hp2 HG02897.hp1 HG03098.hp1 HG03490.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(94): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0003g0178 a0002c0002t0001g0206	97	296	0.3277	-12	c.797 others(31): Show c.797-11396_797-11385delGTTTATTTATTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26741568	AAATAAAT others(5): Show AAATAAATAAATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp1 others(145): Show HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02647.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp1 HG03195.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0002c0002t0003 a0002c0002t0011	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(144): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0240 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0181 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0129 a0001c0001t0003g0133 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0003g0178 a0001c0001t0003g0191 a0001c0001t0003g0222 a0001c0001t0007g0005 a0001c0001t0013g0053 a0001c0001t0015g0025 a0002c0002t0003g0026 a0002c0002t0003g0032 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0011g0054 a0002c0002t0011g0055	148	296	0.5000	-12	c.308 others(29): Show c.308-1616_308-1605delAATTTATTTATT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26775530	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp1 HG04199.hp2 others(2): Show HG02965.hp1 HG03486.hp1 HG04199.hp2 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0090 a0001c0001t0003g0027 a0001c0001t0003g0101 others(2): Show a0001c0001t0001g0090 a0001c0001t0003g0027 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0015g0025	5	296	0.0169	-12	c.308 others(31): Show c.308-35578_308-35567delACACACACACAC	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26867647	CTATATAT others(5): Show CTATATATACATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	296	0.0034	-12	c.-32 others(23): Show c.-3230_-3219delTATGTATATATA	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding		3058		chr7	TogoVar
SKIC2_chr6_31954175_31974751	31954663	TGTCTCGA others(5): Show TGTCTCGATCCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01952.hp1 HG01975.hp2 others(4): Show HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02071.hp2 HG02148.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	7	453	0.0155	-12	c.-45 others(23): Show c.-4529_-4518delGTCTCGATCCCG	SKIC2	ENSG00000204351.13	transcript	ENST00000375394.7	protein_coding		4511		chr6	TogoVar
SKIC3_chr5_95458894_95559977	95492640	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp2 HG04199.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0263 a0001c0001t0001g0220 a0001c0001t0001g0263	2	352	0.0057	-12	c.380 others(31): Show c.3803-1616_3803-1605delCTTTTTTTTTTT	SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding	36/42			chr5	TogoVar
SKIC3_chr5_95458894_95559977	95546340	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	352	0.0028	-12	c.90+ others(25): Show c.90+709_90+720delGTTTTTTTTTTT	SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding	4/42			chr5	TogoVar
SKIC3_chr5_95458894_95559977	95557602	AAATGTTG others(5): Show AAATGTTGGTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	352	0.0028	-12	c.-29 others(23): Show c.-2906_-2895delAAGACCAACATT	SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding		2626		chr5	TogoVar
SKIDA1_chr10_21508475_21530682	21508522	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02602.hp1 HG02622.hp2 others(3): Show HG02451.hp2 HG02602.hp1 HG02622.hp2 NA18941.hp2 NA19030.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0017 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0017 a0001c0001t0030	a0001c0001t0002g0018 a0001c0001t0002g0175 a0001c0001t0014g0048 others(3): Show a0001c0001t0002g0018 a0001c0001t0002g0175 a0001c0001t0014g0048 a0001c0001t0017g0125 a0001c0001t0017g0197 a0001c0001t0030g0124	6	230	0.0261	-12	c.65 others(23): Show c.6562_*6573delCACACACACACA	SKIDA1	ENSG00000180592.17	transcript	ENST00000449193.7	protein_coding		4952		chr10	TogoVar
SKIDA1_chr10_21508475_21530682	21514213	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01167.hp2 NA21309.hp2 HG00741.hp2 HG01167.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0028 a0001c0001t0018 a0001c0001t0028	a0001c0001t0018g0043 a0001c0001t0018g0168 a0001c0001t0028g0138 a0001c0001t0018g0043 a0001c0001t0018g0168 a0001c0001t0028g0138	3	230	0.0130	-12	c.87 others(21): Show c.871_*882delTTTTTTTTTTTT	SKIDA1	ENSG00000180592.17	transcript	ENST00000449193.7	protein_coding	4/4	871		chr10	TogoVar
SKIDA1_chr10_21508475_21530682	21522266	ACCCCCCC others(5): Show ACCCCCCCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01256.hp2 HG01515.hp2 others(5): Show HG01099.hp1 HG01256.hp2 HG01515.hp2 HG03704.hp1 HG03704.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0001t0013 a0001c0001t0019 others(5): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0016t0032	a0001c0001t0002g0034 a0001c0001t0013g0035 a0001c0001t0019g0036 others(5): Show a0001c0001t0002g0034 a0001c0001t0013g0035 a0001c0001t0019g0036 a0001c0001t0020g0170 a0001c0001t0024g0137 a0001c0001t0025g0015 a0001c0001t0028g0138 a0001c0016t0032g0169	8	230	0.0348	-12	c.-19 others(31): Show c.-1928-798_-1928-787delGGGGGGGGGGGG	SKIDA1	ENSG00000180592.17	transcript	ENST00000449193.7	protein_coding	2/3			chr10	TogoVar
SKIL_chr3_170352715_170401835	170364311	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02055.hp1 others(17): Show HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0011 a0002c0002t0013 a0002c0002t0033 others(4): Show a0002c0002t0011 a0002c0002t0013 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0054 a0006c0007t0048	a0002c0002t0011g0004 a0002c0002t0011g0268 a0002c0002t0011g0269 others(16): Show a0002c0002t0011g0004 a0002c0002t0011g0268 a0002c0002t0011g0269 a0002c0002t0011g0271 a0002c0002t0011g0273 a0002c0002t0013g0270 a0002c0002t0013g0272 a0002c0002t0013g0274 a0002c0002t0013g0275 a0002c0002t0013g0296 a0002c0002t0013g0297 a0002c0002t0033g0293 a0002c0002t0033g0332 a0002c0002t0034g0018 a0002c0002t0034g0295 a0002c0002t0035g0004 a0002c0002t0035g0018 a0002c0002t0054g0294 a0006c0007t0048g0310	20	362	0.0553	-12	c.109 others(31): Show c.1098+2900_1098+2911delTTTTTTTTTTTT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SKIL_chr3_170352715_170401835	170400739	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00673.hp2 HG01069.hp2 others(18): Show HG00423.hp2 HG00673.hp2 HG01069.hp2 HG01928.hp1 HG02055.hp2 HG02622.hp2 HG02698.hp2 HG02818.hp1 HG02886.hp1 HG03490.hp1 HG03492.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18973.hp1 NA18994.hp1 NA19006.hp1 NA19064.hp2 NA19065.hp2 NA19085.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(10): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0024 a0001c0001t0036 a0001c0001t0040 a0001c0001t0084 a0001c0003t0024 a0002c0002t0035 a0002c0002t0054 a0002c0002t0088	a0001c0001t0002g0013 a0001c0001t0002g0043 a0001c0001t0002g0092 others(18): Show a0001c0001t0002g0013 a0001c0001t0002g0043 a0001c0001t0002g0092 a0001c0001t0002g0189 a0001c0001t0002g0214 a0001c0001t0007g0080 a0001c0001t0008g0185 a0001c0001t0008g0190 a0001c0001t0012g0049 a0001c0001t0012g0070 a0001c0001t0014g0174 a0001c0001t0014g0201 a0001c0001t0024g0217 a0001c0001t0036g0038 a0001c0001t0040g0055 a0001c0001t0084g0060 a0001c0003t0024g0046 a0002c0002t0035g0004 a0002c0002t0035g0018 a0002c0002t0054g0294 a0002c0002t0088g0309	21	362	0.0580	-12	c.83 others(23): Show c.8323_*8334delTCTTTCTTTCTT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding		3905		chr3	TogoVar
SKI_chr1_2223319_2315213	2235650	TGGGGGGC others(5): Show TGGGGGGCCCAGG	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	330	0.0030	-12	c.969 others(29): Show c.969+5917_969+5928delGGGGGCCCAGGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2314064	TGCCCTCG others(5): Show TGCCCTCGCCAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0128 a0001c0001t0079g0128	1	330	0.0030	-12	c.73 others(23): Show c.7300_*7311delGCCCTCGCCAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding		3852		chr1	TogoVar

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