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
SOS1_chr2_38976549_39126051	39094652	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02818.hp2 HG02886.hp1 others(2): Show HG01099.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0034 a0001c0002t0005 a0001c0002t0016 a0001c0001t0034 a0001c0002t0005 a0001c0002t0016	a0001c0001t0034g0189 a0001c0002t0005g0026 a0001c0002t0005g0027 others(2): Show a0001c0001t0034g0189 a0001c0002t0005g0026 a0001c0002t0005g0027 a0001c0002t0005g0030 a0001c0002t0016g0033	5	246	0.0203	8	c.87+ others(25): Show c.87+25676_87+25683dupATTTATTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39102204	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01192.hp1 others(42): Show HG00738.hp1 HG00741.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01943.hp2 HG01978.hp1 HG02273.hp1 HG02300.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp2 NA18948.hp2 NA18949.hp2 NA18955.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18983.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19011.hp2 NA19065.hp1 NA19090.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 a0001c0001 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0008t0003 a0002c0003t0003	a0001c0001t0001g0010 a0001c0001t0001g0062 a0001c0001t0001g0068 others(42): Show a0001c0001t0001g0010 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0135 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0005g0102 a0001c0001t0005g0108 a0001c0001t0005g0143 a0001c0001t0010g0013 a0001c0001t0010g0120 a0001c0001t0010g0166 a0001c0001t0026g0069 a0001c0001t0028g0084 a0001c0001t0032g0184 a0001c0008t0003g0141 a0002c0003t0003g0163 a0002c0003t0003g0164	45	246	0.1829	8	c.87+ others(25): Show c.87+18124_87+18131dupTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39110039	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18953.hp2 NA19056.hp1 HG03669.hp1 NA18953.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0158 a0001c0001t0003g0072 a0001c0001t0003g0101 a0001c0001t0001g0158 a0001c0001t0003g0072 a0001c0001t0003g0101	3	246	0.0122	8	c.87+ others(25): Show c.87+10289_87+10296dupACACACAC	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39122447	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02145.hp2 others(9): Show HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02280.hp1 HG02615.hp1 HG03041.hp1 HG03098.hp2 HG03516.hp2 HG03579.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024	a0001c0001t0003g0051 a0001c0001t0004g0006 a0001c0001t0004g0024 others(9): Show a0001c0001t0003g0051 a0001c0001t0004g0006 a0001c0001t0004g0024 a0001c0001t0004g0043 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0056 a0001c0001t0018g0047 a0001c0001t0019g0055 a0001c0001t0020g0053 a0001c0001t0024g0046	12	246	0.0488	8	c.-20 others(19): Show c.-2033_-2026dupGTGTGTGT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding		1397		chr2	TogoVar
SOS2_chr14_50112130_50236578	50189061	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00642.hp1 others(36): Show HG00323.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01515.hp2 HG02055.hp2 HG02145.hp2 HG02300.hp1 HG02451.hp1 HG02630.hp2 HG02723.hp1 HG03225.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp1 HG04228.hp1 NA18947.hp2 NA18993.hp1 NA18994.hp1 NA19043.hp1 NA19064.hp2 NA19078.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0003t0001 a0001c0007t0001 a0001c0010t0001 a0002c0004t0001	a0001c0001t0001g0123 a0001c0001t0001g0143 a0001c0001t0001g0151 others(36): Show a0001c0001t0001g0123 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0300 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0008g0229 a0001c0003t0001g0356 a0001c0003t0001g0359 a0001c0003t0001g0360 a0001c0007t0001g0145 a0001c0010t0001g0155 a0002c0004t0001g0364 a0002c0004t0001g0367 a0002c0004t0001g0368 a0002c0004t0001g0369 a0002c0004t0001g0370 a0002c0004t0001g0376	39	382	0.1021	8	c.511 others(23): Show c.511-369_511-362dupTGTGTGTG	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG01192.hp2 others(10): Show HG00621.hp1 HG00642.hp1 HG01192.hp2 HG01934.hp1 HG02004.hp2 HG02055.hp1 HG03209.hp1 HG04184.hp1 HG04228.hp2 NA18975.hp1 NA18985.hp2 NA18994.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0001t0001 a0001c0001t0002 a0001c0007t0001	a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0157 others(10): Show a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0002g0216 a0001c0007t0001g0145	13	382	0.0340	8	c.511 others(23): Show c.511-639_511-632dupTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50209274	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03490.hp1 HG03834.hp2 others(3): Show HG02970.hp2 HG03490.hp1 HG03834.hp2 NA18962.hp2 NA18983.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0230 a0001c0001t0001g0253 a0001c0001t0001g0254 others(3): Show a0001c0001t0001g0230 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0266 a0001c0001t0001g0302 a0002c0004t0001g0375	6	382	0.0157	8	c.88- others(23): Show c.88-4873_88-4866dupACACACAC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50224883	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(266): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0003c0006 a0004c0014 a0005c0011 a0006c0009 a0007c0017 a0008c0008 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010 a0001c0003t0001 a0001c0010t0001 a0003c0006t0001 a0004c0014t0001 a0005c0011t0001 a0006c0009t0001 a0007c0017t0001 a0008c0008t0013 a0009c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0123 others(265): Show a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0002g0179 a0001c0001t0002g0306 a0001c0001t0006g0199 a0001c0001t0006g0222 a0001c0001t0008g0229 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0125 a0001c0002t0001g0158 a0001c0002t0001g0278 a0001c0002t0004g0007 a0001c0002t0009g0057 a0001c0002t0010g0378 a0001c0003t0001g0036 a0001c0003t0001g0048 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0348 a0001c0003t0001g0349 a0001c0003t0001g0350 a0001c0003t0001g0352 a0001c0010t0001g0155 a0003c0006t0001g0027 a0004c0014t0001g0296 a0005c0011t0001g0058 a0006c0009t0001g0255 a0007c0017t0001g0078 a0008c0008t0013g0381 a0009c0013t0001g0134	269	382	0.7042	8	c.87+ others(23): Show c.87+6306_87+6313dupTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOSTDC1_chr7_16456481_16470738	16464652	T T	TTCTCTCT others(1): Show TTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00673.hp1 others(57): Show HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG02027.hp1 HG02040.hp2 HG02080.hp2 HG02135.hp2 HG02155.hp1 HG02602.hp2 HG02698.hp2 HG03017.hp1 HG03688.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18949.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18978.hp1 NA18980.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19067.hp1 NA19072.hp2 NA19076.hp1 NA19077.hp1 NA19081.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0028 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0005g0015	60	422	0.1422	8	c.205 others(23): Show c.205+804_205+811dupGAGAGAGA	SOSTDC1	ENSG00000171243.8	transcript	ENST00000307068.5	protein_coding	1/1			chr7	TogoVar
SOSTDC1_chr7_16456481_16470738	16470044	T T	TTATATAT others(1): Show TTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 NA19077.hp2 NA19090.hp2 HG01261.hp1 NA19077.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	422	0.0071	8	c.-43 others(19): Show c.-4384_-4377dupTATATATA	SOSTDC1	ENSG00000171243.8	transcript	ENST00000307068.5	protein_coding		4307		chr7	TogoVar
SOWAHC_chr2_109609364_109623990	109621914	A A	AAAATAAA others(1): Show AAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00621.hp2 others(89): Show HG00423.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG01070.hp2 HG01261.hp1 HG01358.hp2 HG01515.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02523.hp2 HG02615.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19075.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20905.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0004c0005 others(1): Show a0001c0001 a0001c0002 a0004c0005 a0007c0007	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0002t0002 a0001c0002t0005 a0004c0005t0001 a0007c0007t0009	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0011g0000 others(7): Show a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0011g0000 a0001c0001t0014g0000 a0001c0001t0022g0000 a0001c0001t0023g0000 a0001c0002t0002g0000 a0001c0002t0005g0000 a0004c0005t0001g0000 a0007c0007t0009g0000	92	432	0.2130	8	c.58 others(19): Show c.5847_*5848insAAATAAAT	SOWAHC	ENSG00000198142.5	transcript	ENST00000356454.5	protein_coding		2925		chr2	TogoVar
SOWAHD_chrX_119753588_119765202	119762418	T T	TTTTCTTT others(1): Show TTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 homoSapiens_chm13v2.hp1 HG04115.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	322	0.0062	8	c.28 others(19): Show c.2803_*2804insTTTCTTTC	SOWAHD	ENSG00000187808.5	transcript	ENST00000343905.5	protein_coding		2217		chrX	TogoVar
SOX10_chr22_37967312_37989555	37985818	A A	AACACACA others(1): Show AACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 NA18612.hp1 NA18959.hp1 others(3): Show HG02056.hp1 NA18612.hp1 NA18959.hp1 NA18979.hp1 NA19011.hp2 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0005 a0001c0003t0002 a0001c0003t0005	a0001c0003t0002g0003 a0001c0003t0005g0072 a0001c0003t0002g0003 a0001c0003t0005g0072	6	336	0.0179	8	c.-15 others(19): Show c.-1572_-1565dupGTGTGTGT	SOX10	ENSG00000100146.20	transcript	ENST00000396884.8	protein_coding		1264		chr22	TogoVar
SOX11_chr2_5687384_5706385	5688834	T T	TTGTGTGT others(1): Show TTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02559.hp1 others(2): Show HG01256.hp1 HG01258.hp2 HG02559.hp1 HG02559.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0022 a0001c0001t0041 a0001c0001t0008 a0001c0001t0022 a0001c0001t0041	a0001c0001t0008g0000 a0001c0001t0022g0000 a0001c0001t0041g0000 a0001c0001t0008g0000 a0001c0001t0022g0000 a0001c0001t0041g0000	5	434	0.0115	8	c.-38 others(19): Show c.-3888_-3887insTGTGTGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		3549		chr2	TogoVar
SOX13_chr1_204068115_204132743	204101504	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG02895.hp1 others(10): Show HG00099.hp1 HG01109.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG03041.hp1 HG04199.hp1 NA18522.hp2 NA18954.hp1 NA18965.hp1 NA19043.hp2 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0344 a0001c0001t0002g0004 a0001c0001t0002g0322 others(9): Show a0001c0001t0001g0344 a0001c0001t0002g0004 a0001c0001t0002g0322 a0001c0001t0004g0188 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0009g0076 a0001c0001t0012g0079 a0001c0001t0012g0286 a0001c0001t0013g0010 a0001c0001t0014g0136 a0001c0001t0015g0014	13	364	0.0357	8	c.-1- others(25): Show c.-1-11404_-1-11397dupAAAAAAAA	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOX13_chr1_204068115_204132743	204112527	A A	ACACACAC others(1): Show ACACACACT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00597.hp2 others(33): Show HG00280.hp1 HG00558.hp2 HG00597.hp2 HG01069.hp1 HG01071.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03130.hp1 HG03486.hp2 HG03516.hp1 NA18952.hp1 NA18959.hp1 NA18965.hp2 NA18971.hp1 NA18989.hp1 NA18990.hp1 NA19005.hp1 NA19005.hp2 NA19043.hp1 NA19056.hp1 NA19064.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0003c0003t0009 a0005c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0078 a0001c0001t0001g0102 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0320 a0001c0001t0001g0331 a0001c0001t0002g0044 a0001c0001t0002g0323 a0001c0001t0003g0067 a0001c0001t0003g0125 a0001c0001t0004g0189 a0001c0001t0005g0049 a0001c0001t0005g0319 a0001c0001t0006g0018 a0001c0001t0006g0183 a0001c0001t0009g0076 a0001c0001t0009g0080 a0001c0001t0015g0014 a0001c0001t0015g0178 a0001c0001t0018g0041 a0003c0003t0009g0209 a0005c0005t0001g0124	36	364	0.0989	8	c.-1- others(21): Show c.-1-387_-1-386insACACACTC	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOX30_chr5_157620679_157657438	157628365	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03927.hp2 NA18998.hp1 HG01952.hp1 HG03927.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0189 a0001c0003t0001g0152 a0001c0003t0001g0157 a0001c0001t0001g0189 a0001c0003t0001g0152 a0001c0003t0001g0157	3	394	0.0076	8	c.188 others(27): Show c.1881-1652_1881-1645dupTGTGTGTG	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX3_chrX_140497985_140510069	140506944	A A	AGTGTGTG others(1): Show AGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(41): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG01109.hp1 HG01192.hp1 HG01258.hp1 HG01496.hp1 HG01928.hp1 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02083.hp1 HG02273.hp1 HG02738.hp1 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03704.hp2 HG03927.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18956.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18971.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18992.hp2 NA18994.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp1 NA19062.hp1 NA19077.hp2 NA19080.hp1 NA19083.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	44	339	0.1298	8	c.-18 others(19): Show c.-1885_-1884insACACACAC	SOX3	ENSG00000134595.9	transcript	ENST00000370536.5	protein_coding		1876		chrX	TogoVar
SOX3_chrX_140497985_140510069	140506978	T T	TGTGTGTG others(1): Show TGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	339	0.0030	8	c.-19 others(19): Show c.-1919_-1918insGCACACAC	SOX3	ENSG00000134595.9	transcript	ENST00000370536.5	protein_coding		1910		chrX	TogoVar
SOX4_chr6_21588751_21603619	21603288	A A	ATGTGTGT others(1): Show ATGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01496.hp2 HG01891.hp2 others(8): Show HG01361.hp2 HG01496.hp2 HG01891.hp2 HG02451.hp2 HG02723.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03225.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0039 a0001c0007t0021 a0001c0001t0001 a0001c0001t0039 a0001c0007t0021	a0001c0001t0001g0000 a0001c0001t0039g0000 a0001c0007t0021g0000 a0001c0001t0001g0000 a0001c0001t0039g0000 a0001c0007t0021g0000	11	356	0.0309	8	c.73 others(19): Show c.7329_*7330insTGTGTGTG	SOX4	ENSG00000124766.7	transcript	ENST00000244745.4	protein_coding		4670		chr6	TogoVar
SOX5_chr12_23524504_23954670	23528817	C C	CCCAACCA others(1): Show CCCAACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02486.hp2 HG03130.hp1 others(3): Show HG02148.hp2 HG02486.hp2 HG03130.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0022 a0001c0001t0082 others(1): Show a0001c0001t0011 a0001c0001t0022 a0001c0001t0082 a0001c0001t0083	a0001c0001t0011g0082 a0001c0001t0011g0144 a0001c0001t0022g0171 others(3): Show a0001c0001t0011g0082 a0001c0001t0011g0144 a0001c0001t0022g0171 a0001c0001t0022g0176 a0001c0001t0082g0002 a0001c0001t0083g0090	6	212	0.0283	8	c.54 others(19): Show c.5401_*5402insTTGGTTGG	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding		686		chr12	TogoVar
SOX5_chr12_23524504_23954670	23577176	C C	CACATATA others(1): Show CACATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp1 NA18906.hp2 HG02486.hp1 HG03130.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0083 a0001c0001t0118 a0001c0001t0036 a0001c0001t0083 a0001c0001t0118	a0001c0001t0036g0117 a0001c0001t0083g0090 a0001c0001t0118g0007 a0001c0001t0036g0117 a0001c0001t0083g0090 a0001c0001t0118g0007	3	212	0.0142	8	c.116 others(27): Show c.1165-1339_1165-1338insATATATGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23577191	A A	ATATATTT others(1): Show ATATATTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01261.hp2 HG01496.hp1 others(13): Show HG01175.hp1 HG01261.hp2 HG01496.hp1 HG01934.hp1 HG01981.hp2 HG02559.hp2 HG02602.hp2 HG02717.hp2 HG02970.hp2 HG03540.hp2 HG03704.hp2 HG03942.hp2 HG06807.hp1 NA18959.hp1 NA19003.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0030 a0001c0001t0068 a0001c0001t0069 a0001c0001t0074 a0001c0001t0090 a0001c0001t0096 a0001c0001t0108 a0001c0001t0121	a0001c0001t0001g0172 a0001c0001t0002g0105 a0001c0001t0002g0194 others(13): Show a0001c0001t0001g0172 a0001c0001t0002g0105 a0001c0001t0002g0194 a0001c0001t0008g0076 a0001c0001t0014g0109 a0001c0001t0014g0128 a0001c0001t0017g0151 a0001c0001t0021g0139 a0001c0001t0030g0040 a0001c0001t0068g0060 a0001c0001t0069g0098 a0001c0001t0074g0175 a0001c0001t0090g0072 a0001c0001t0096g0074 a0001c0001t0108g0050 a0001c0001t0121g0186	16	212	0.0755	8	c.116 others(27): Show c.1165-1354_1165-1353insAAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23577191	A A	ATATTTTT others(1): Show ATATTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01243.hp2 others(5): Show HG00735.hp2 HG01074.hp2 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG02698.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0085	a0001c0001t0001g0150 a0001c0001t0002g0047 a0001c0001t0002g0159 others(5): Show a0001c0001t0001g0150 a0001c0001t0002g0047 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0200 a0001c0001t0017g0042 a0001c0001t0085g0029	8	212	0.0377	8	c.116 others(27): Show c.1165-1354_1165-1353insAAAAAATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01928.hp2 HG02083.hp1 others(9): Show HG00639.hp1 HG01928.hp2 HG02083.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 NA18973.hp2 NA19088.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0022 a0001c0001t0065 others(6): Show a0001c0001t0008 a0001c0001t0022 a0001c0001t0065 a0001c0001t0079 a0001c0001t0111 a0001c0002t0006 a0001c0002t0046 a0001c0002t0048 a0001c0002t0052	a0001c0001t0008g0037 a0001c0001t0008g0067 a0001c0001t0022g0171 others(9): Show a0001c0001t0008g0037 a0001c0001t0008g0067 a0001c0001t0022g0171 a0001c0001t0022g0176 a0001c0001t0065g0033 a0001c0001t0079g0197 a0001c0001t0111g0104 a0001c0002t0006g0019 a0001c0002t0006g0043 a0001c0002t0046g0161 a0001c0002t0048g0113 a0001c0002t0052g0124	12	212	0.0566	8	c.116 others(27): Show c.1165-2287_1165-2280dupTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23600522	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02559.hp1 HG02809.hp2 others(3): Show HG01261.hp2 HG02559.hp1 HG02809.hp2 HG03239.hp2 HG03491.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0001t0027 a0001c0001t0037 others(3): Show a0001c0001t0021 a0001c0001t0027 a0001c0001t0037 a0001c0001t0057 a0001c0001t0092 a0001c0002t0053	a0001c0001t0021g0139 a0001c0001t0027g0106 a0001c0001t0037g0081 others(3): Show a0001c0001t0021g0139 a0001c0001t0027g0106 a0001c0001t0037g0081 a0001c0001t0057g0087 a0001c0001t0092g0152 a0001c0002t0053g0095	6	212	0.0283	8	c.116 others(27): Show c.1164+3857_1164+3864dupATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23600552	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00741.hp1 HG01175.hp1 others(11): Show HG00597.hp1 HG00741.hp1 HG01175.hp1 HG01928.hp2 HG02300.hp1 HG02300.hp2 HG02647.hp1 HG04184.hp1 NA18942.hp1 NA18957.hp2 NA18973.hp2 NA19005.hp1 NA19056.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0009 a0001c0001t0026 others(5): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0026 a0001c0001t0028 a0001c0001t0035 a0001c0001t0060 a0001c0001t0111 a0001c0002t0005	a0001c0001t0008g0035 a0001c0001t0008g0037 a0001c0001t0008g0067 others(11): Show a0001c0001t0008g0035 a0001c0001t0008g0037 a0001c0001t0008g0067 a0001c0001t0008g0076 a0001c0001t0009g0057 a0001c0001t0026g0012 a0001c0001t0026g0127 a0001c0001t0028g0185 a0001c0001t0028g0203 a0001c0001t0035g0009 a0001c0001t0035g0018 a0001c0001t0060g0156 a0001c0001t0111g0104 a0001c0002t0005g0125	14	212	0.0660	8	c.116 others(27): Show c.1164+3834_1164+3835insGTATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23664322	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01496.hp2 HG02738.hp2 others(1): Show HG01106.hp1 HG01496.hp2 HG02738.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0021 a0001c0001t0107 others(1): Show a0001c0001t0011 a0001c0001t0021 a0001c0001t0107 a0001c0001t0110	a0001c0001t0011g0131 a0001c0001t0021g0129 a0001c0001t0107g0211 others(1): Show a0001c0001t0011g0131 a0001c0001t0021g0129 a0001c0001t0107g0211 a0001c0001t0110g0056	4	212	0.0189	8	c.931 others(25): Show c.931+1114_931+1121dupATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	7/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01168.hp2 others(3): Show HG01069.hp1 HG01071.hp1 HG01168.hp2 HG01516.hp2 HG01517.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018	a0001c0001t0012g0110 a0001c0001t0012g0111 a0001c0001t0012g0116 others(3): Show a0001c0001t0012g0110 a0001c0001t0012g0111 a0001c0001t0012g0116 a0001c0001t0013g0044 a0001c0001t0013g0045 a0001c0001t0018g0169	6	212	0.0283	8	c.811 others(25): Show c.811-8780_811-8773dupAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23703727	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02886.hp1 others(10): Show HG02451.hp2 HG02559.hp1 HG02886.hp1 HG02922.hp1 HG03041.hp1 HG03471.hp2 HG03486.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18994.hp1 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0014 a0001c0001t0027 others(5): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0027 a0001c0001t0034 a0001c0001t0079 a0001c0001t0113 a0001c0002t0005 a0001c0003t0080	a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0108 others(10): Show a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0108 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0014g0109 a0001c0001t0027g0106 a0001c0001t0027g0146 a0001c0001t0034g0122 a0001c0001t0079g0197 a0001c0001t0113g0008 a0001c0002t0005g0101 a0001c0003t0080g0183	13	212	0.0613	8	c.810 others(27): Show c.810+30949_810+30956dupGTGTGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23704687	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01167.hp2 others(14): Show HG00738.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01993.hp2 HG02145.hp1 HG02165.hp1 HG02818.hp2 HG02895.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03540.hp2 HG03704.hp1 HG04115.hp2 NA19056.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0023 a0001c0001t0029 a0001c0001t0032 a0001c0001t0035 a0001c0001t0042 a0001c0001t0083 a0001c0001t0109 a0001c0002t0006	a0001c0001t0001g0114 a0001c0001t0002g0194 a0001c0001t0003g0086 others(14): Show a0001c0001t0001g0114 a0001c0001t0002g0194 a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0121 a0001c0001t0004g0209 a0001c0001t0010g0038 a0001c0001t0023g0026 a0001c0001t0023g0049 a0001c0001t0029g0027 a0001c0001t0032g0141 a0001c0001t0032g0191 a0001c0001t0035g0009 a0001c0001t0042g0077 a0001c0001t0083g0090 a0001c0001t0109g0039 a0001c0002t0006g0126	17	212	0.0802	8	c.810 others(27): Show c.810+29989_810+29996dupATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23704715	T T	TATACACA others(1): Show TATACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp1 HG02886.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0034 a0001c0005t0001 a0001c0001t0034 a0001c0005t0001	a0001c0001t0034g0122 a0001c0005t0001g0195 a0001c0001t0034g0122 a0001c0005t0001g0195	2	212	0.0094	8	c.810 others(27): Show c.810+29968_810+29969insGTGTGTAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23704715	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04184.hp2 NA18942.hp2 HG03704.hp2 HG04184.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0029 a0001c0001t0090 a0001c0001t0017 a0001c0001t0029 a0001c0001t0090	a0001c0001t0017g0028 a0001c0001t0029g0143 a0001c0001t0090g0072 a0001c0001t0017g0028 a0001c0001t0029g0143 a0001c0001t0090g0072	3	212	0.0142	8	c.810 others(27): Show c.810+29968_810+29969insGTATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23718072	T T	TAATTTTT others(1): Show TAATTTTTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01071.hp2 others(20): Show HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01175.hp1 HG01175.hp2 HG01934.hp2 HG02040.hp2 HG02148.hp2 HG02451.hp1 HG02738.hp1 HG02965.hp1 HG03942.hp1 NA18612.hp2 NA18942.hp1 NA18944.hp1 NA18957.hp1 NA18973.hp1 NA19005.hp2 NA19063.hp1 NA19077.hp1 NA19091.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(18): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0056 a0001c0001t0061 a0001c0001t0063 a0001c0001t0069 a0001c0001t0087 a0001c0001t0103 a0001c0001t0106 a0001c0002t0005 a0001c0005t0001	a0001c0001t0002g0006 a0001c0001t0002g0201 a0001c0001t0008g0076 others(20): Show a0001c0001t0002g0006 a0001c0001t0002g0201 a0001c0001t0008g0076 a0001c0001t0009g0041 a0001c0001t0010g0184 a0001c0001t0012g0110 a0001c0001t0012g0111 a0001c0001t0014g0097 a0001c0001t0015g0102 a0001c0001t0019g0066 a0001c0001t0022g0171 a0001c0001t0028g0185 a0001c0001t0031g0005 a0001c0001t0033g0065 a0001c0001t0056g0142 a0001c0001t0061g0136 a0001c0001t0063g0140 a0001c0001t0069g0098 a0001c0001t0087g0188 a0001c0001t0103g0064 a0001c0001t0106g0011 a0001c0002t0005g0013 a0001c0005t0001g0195	23	212	0.1085	8	c.810 others(27): Show c.810+16604_810+16611dupTAAAAATT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23723566	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02109.hp2 others(3): Show HG01106.hp2 HG01891.hp2 HG02109.hp2 HG02300.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0020 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0020 a0001c0001t0093 a0001c0001t0120 a0001c0004t0047	a0001c0001t0001g0166 a0001c0001t0009g0057 a0001c0001t0020g0181 others(3): Show a0001c0001t0001g0166 a0001c0001t0009g0057 a0001c0001t0020g0181 a0001c0001t0093g0192 a0001c0001t0120g0107 a0001c0004t0047g0190	6	212	0.0283	8	c.810 others(27): Show c.810+11110_810+11117dupTATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23726118	C C	CGAGAGAG others(1): Show CGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02647.hp2 NA18961.hp1 HG02083.hp2 HG02647.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0099 a0001c0001t0115 a0001c0001t0003 a0001c0001t0099 a0001c0001t0115	a0001c0001t0003g0208 a0001c0001t0099g0055 a0001c0001t0115g0179 a0001c0001t0003g0208 a0001c0001t0099g0055 a0001c0001t0115g0179	3	212	0.0142	8	c.810 others(25): Show c.810+8558_810+8565dupTCTCTCTC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23779788	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01928.hp2 others(16): Show HG01167.hp1 HG01169.hp2 HG01928.hp2 HG01993.hp1 HG02083.hp2 HG02148.hp1 HG02273.hp2 HG02300.hp2 HG02717.hp2 HG03017.hp1 HG03710.hp2 HG06807.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18957.hp1 NA18959.hp1 NA19005.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0064 a0001c0001t0072 a0001c0001t0075 a0001c0001t0099 a0001c0001t0109 a0001c0001t0111 a0001c0002t0006 a0001c0003t0080	a0001c0001t0001g0172 a0001c0001t0008g0037 a0001c0001t0009g0017 others(16): Show a0001c0001t0001g0172 a0001c0001t0008g0037 a0001c0001t0009g0017 a0001c0001t0009g0187 a0001c0001t0019g0066 a0001c0001t0023g0026 a0001c0001t0028g0185 a0001c0001t0029g0143 a0001c0001t0030g0040 a0001c0001t0033g0065 a0001c0001t0064g0100 a0001c0001t0072g0058 a0001c0001t0075g0073 a0001c0001t0099g0055 a0001c0001t0109g0039 a0001c0001t0111g0104 a0001c0002t0006g0043 a0001c0002t0006g0061 a0001c0003t0080g0183	19	212	0.0896	8	c.482 others(27): Show c.482-24072_482-24065dupATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23779814	T T	TATATACA others(1): Show TATATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03225.hp2 NA19010.hp2 HG02622.hp1 HG03225.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0040 a0001c0001t0054 a0001c0003t0088 a0001c0001t0040 a0001c0001t0054 a0001c0003t0088	a0001c0001t0040g0046 a0001c0001t0054g0154 a0001c0003t0088g0032 a0001c0001t0040g0046 a0001c0001t0054g0154 a0001c0003t0088g0032	3	212	0.0142	8	c.482 others(27): Show c.482-24091_482-24090insGTGTATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23779955	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01928.hp2 others(23): Show HG01167.hp1 HG01169.hp2 HG01928.hp2 HG02083.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp2 HG02683.hp1 HG02809.hp1 HG02895.hp1 HG02976.hp2 HG03017.hp1 HG03710.hp2 HG04184.hp1 NA18522.hp1 NA18942.hp1 NA18942.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA19005.hp2 NA19072.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0058 a0001c0001t0064 a0001c0001t0072 a0001c0001t0075 a0001c0001t0096 a0001c0001t0099 a0001c0001t0107 a0001c0001t0109 a0001c0001t0111 a0001c0001t0115 a0001c0002t0005 a0001c0002t0006	a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0004g0030 others(23): Show a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0004g0030 a0001c0001t0004g0209 a0001c0001t0007g0198 a0001c0001t0008g0037 a0001c0001t0009g0187 a0001c0001t0015g0091 a0001c0001t0019g0066 a0001c0001t0023g0026 a0001c0001t0026g0127 a0001c0001t0028g0185 a0001c0001t0029g0143 a0001c0001t0033g0065 a0001c0001t0058g0132 a0001c0001t0064g0100 a0001c0001t0072g0058 a0001c0001t0075g0073 a0001c0001t0096g0074 a0001c0001t0099g0055 a0001c0001t0107g0211 a0001c0001t0109g0039 a0001c0001t0111g0104 a0001c0001t0115g0179 a0001c0002t0005g0071 a0001c0002t0006g0043	26	212	0.1226	8	c.482 others(27): Show c.482-24239_482-24232dupCACACACA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23792622	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01928.hp2 HG02083.hp2 others(4): Show HG01167.hp1 HG01928.hp2 HG02083.hp2 HG02622.hp1 HG03017.hp1 NA18957.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0001t0033 a0001c0001t0071 others(4): Show a0001c0001t0008 a0001c0001t0033 a0001c0001t0071 a0001c0001t0075 a0001c0001t0099 a0001c0001t0109 a0001c0003t0088	a0001c0001t0008g0037 a0001c0001t0033g0065 a0001c0001t0071g0014 others(4): Show a0001c0001t0008g0037 a0001c0001t0033g0065 a0001c0001t0071g0014 a0001c0001t0075g0073 a0001c0001t0099g0055 a0001c0001t0109g0039 a0001c0003t0088g0032	7	212	0.0330	8	c.482 others(27): Show c.482-36906_482-36899dupTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23804915	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG03195.hp1 others(1): Show HG01168.hp1 HG01169.hp1 HG03195.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0086 a0001c0001t0092 a0001c0001t0007 a0001c0001t0086 a0001c0001t0092	a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0086g0024 others(1): Show a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0086g0024 a0001c0001t0092g0152	4	212	0.0189	8	c.481 others(27): Show c.481+41060_481+41067dupTATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23831957	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01069.hp1 others(32): Show HG00597.hp2 HG00609.hp2 HG01069.hp1 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02300.hp2 HG02559.hp1 HG02647.hp2 HG02895.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03710.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18957.hp2 NA18959.hp2 NA18994.hp2 NA19005.hp1 NA19030.hp2 NA19077.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0049 a0001c0001t0064 a0001c0001t0069 a0001c0001t0077 a0001c0001t0078 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0089 a0001c0001t0102 a0001c0001t0105 a0001c0001t0106 a0001c0001t0111 a0001c0001t0114 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0002t0006 a0001c0002t0048 a0001c0002t0051	a0001c0001t0001g0108 a0001c0001t0003g0208 a0001c0001t0004g0209 others(32): Show a0001c0001t0001g0108 a0001c0001t0003g0208 a0001c0001t0004g0209 a0001c0001t0006g0068 a0001c0001t0007g0023 a0001c0001t0012g0111 a0001c0001t0017g0028 a0001c0001t0018g0022 a0001c0001t0024g0034 a0001c0001t0027g0106 a0001c0001t0028g0203 a0001c0001t0034g0015 a0001c0001t0035g0018 a0001c0001t0036g0112 a0001c0001t0042g0077 a0001c0001t0049g0021 a0001c0001t0064g0100 a0001c0001t0069g0098 a0001c0001t0077g0052 a0001c0001t0078g0054 a0001c0001t0083g0090 a0001c0001t0084g0207 a0001c0001t0086g0024 a0001c0001t0089g0202 a0001c0001t0102g0016 a0001c0001t0105g0063 a0001c0001t0106g0011 a0001c0001t0111g0104 a0001c0001t0114g0119 a0001c0001t0118g0007 a0001c0001t0119g0020 a0001c0001t0120g0107 a0001c0002t0006g0061 a0001c0002t0048g0113 a0001c0002t0051g0070	35	212	0.1651	8	c.481 others(27): Show c.481+14018_481+14025dupGTGTGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837264	A A	ATATATAT others(1): Show ATATATATT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01993.hp1 HG02083.hp2 others(8): Show HG01928.hp2 HG01993.hp1 HG02083.hp2 HG02165.hp2 HG02559.hp2 HG03704.hp2 NA18957.hp1 NA18959.hp1 NA19005.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 others(8): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0026 a0001c0001t0030 a0001c0001t0033 a0001c0001t0090 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0103	a0001c0001t0008g0037 a0001c0001t0009g0017 a0001c0001t0019g0066 others(8): Show a0001c0001t0008g0037 a0001c0001t0009g0017 a0001c0001t0019g0066 a0001c0001t0026g0012 a0001c0001t0030g0040 a0001c0001t0033g0065 a0001c0001t0090g0072 a0001c0001t0096g0074 a0001c0001t0097g0062 a0001c0001t0099g0055 a0001c0001t0103g0064	11	212	0.0519	8	c.481 others(25): Show c.481+8718_481+8719insAATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23887917	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00735.hp2 others(52): Show HG00597.hp1 HG00609.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01928.hp2 HG01981.hp1 HG01993.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02647.hp1 HG02738.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp1 NA18944.hp2 NA18957.hp1 NA18959.hp1 NA18973.hp2 NA18994.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19063.hp1 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0049 a0001c0001t0055 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0070 a0001c0001t0072 a0001c0001t0078 a0001c0001t0086 a0001c0001t0092 a0001c0001t0097 a0001c0001t0099 a0001c0001t0103 a0001c0002t0005 a0001c0002t0006 a0001c0002t0051 a0001c0002t0052	a0001c0001t0001g0150 a0001c0001t0002g0047 a0001c0001t0002g0167 others(52): Show a0001c0001t0001g0150 a0001c0001t0002g0047 a0001c0001t0002g0167 a0001c0001t0004g0025 a0001c0001t0006g0068 a0001c0001t0007g0023 a0001c0001t0008g0035 a0001c0001t0008g0037 a0001c0001t0008g0067 a0001c0001t0008g0076 a0001c0001t0009g0017 a0001c0001t0009g0057 a0001c0001t0010g0173 a0001c0001t0010g0184 a0001c0001t0011g0144 a0001c0001t0012g0116 a0001c0001t0017g0042 a0001c0001t0017g0151 a0001c0001t0018g0022 a0001c0001t0019g0066 a0001c0001t0019g0075 a0001c0001t0023g0049 a0001c0001t0024g0034 a0001c0001t0026g0012 a0001c0001t0026g0127 a0001c0001t0030g0040 a0001c0001t0031g0005 a0001c0001t0032g0141 a0001c0001t0033g0065 a0001c0001t0035g0009 a0001c0001t0035g0018 a0001c0001t0040g0046 a0001c0001t0041g0010 a0001c0001t0049g0021 a0001c0001t0055g0135 a0001c0001t0056g0142 a0001c0001t0060g0156 a0001c0001t0061g0136 a0001c0001t0065g0033 a0001c0001t0066g0048 a0001c0001t0067g0051 a0001c0001t0070g0137 a0001c0001t0072g0058 a0001c0001t0078g0054 a0001c0001t0086g0024 a0001c0001t0092g0152 a0001c0001t0097g0062 a0001c0001t0099g0055 a0001c0001t0103g0064 a0001c0002t0005g0013 a0001c0002t0005g0125 a0001c0002t0006g0061 a0001c0002t0006g0126 a0001c0002t0051g0070 a0001c0002t0052g0124	55	212	0.2594	8	c.270 others(25): Show c.270+7868_270+7875dupCACACACA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23923293	A A	AAATGAAT others(1): Show AAATGAATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG01433.hp2 others(32): Show HG00609.hp2 HG01106.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01993.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG02273.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03540.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp2 NA18522.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18973.hp2 NA19003.hp1 NA19005.hp2 NA19030.hp2 NA19088.hp1 NA19091.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0062 a0001c0001t0068 a0001c0001t0072 a0001c0001t0075 a0001c0001t0078 a0001c0001t0079 a0001c0001t0083 a0001c0001t0084 a0001c0001t0099 a0001c0001t0103 a0001c0001t0110 a0001c0001t0121 a0001c0002t0005 a0001c0002t0006 a0001c0003t0088	a0001c0001t0001g0166 a0001c0001t0001g0196 a0001c0001t0003g0208 others(32): Show a0001c0001t0001g0166 a0001c0001t0001g0196 a0001c0001t0003g0208 a0001c0001t0004g0030 a0001c0001t0008g0067 a0001c0001t0009g0017 a0001c0001t0009g0041 a0001c0001t0013g0044 a0001c0001t0013g0045 a0001c0001t0017g0042 a0001c0001t0019g0066 a0001c0001t0019g0075 a0001c0001t0024g0078 a0001c0001t0029g0027 a0001c0001t0030g0040 a0001c0001t0031g0005 a0001c0001t0031g0031 a0001c0001t0033g0065 a0001c0001t0034g0015 a0001c0001t0062g0089 a0001c0001t0068g0060 a0001c0001t0072g0058 a0001c0001t0075g0073 a0001c0001t0078g0054 a0001c0001t0079g0197 a0001c0001t0083g0090 a0001c0001t0084g0207 a0001c0001t0099g0055 a0001c0001t0103g0064 a0001c0001t0110g0056 a0001c0001t0121g0186 a0001c0002t0005g0071 a0001c0002t0006g0019 a0001c0002t0006g0043 a0001c0003t0088g0032	35	212	0.1651	8	c.38+ others(25): Show c.38+26263_38+26270dupCATTCATT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	1/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23940745	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01981.hp2 others(11): Show HG00741.hp2 HG01074.hp1 HG01981.hp2 HG02148.hp1 HG02300.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03471.hp2 NA18942.hp1 NA18973.hp1 NA18994.hp1 NA19063.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0028 a0001c0001t0030 a0001c0001t0045 a0001c0001t0064 a0001c0001t0111 a0001c0001t0117 a0001c0001t0121 a0001c0002t0005 a0001c0005t0001	a0001c0001t0001g0092 a0001c0001t0002g0105 a0001c0001t0009g0187 others(11): Show a0001c0001t0001g0092 a0001c0001t0002g0105 a0001c0001t0009g0187 a0001c0001t0010g0184 a0001c0001t0015g0102 a0001c0001t0028g0185 a0001c0001t0030g0099 a0001c0001t0045g0103 a0001c0001t0064g0100 a0001c0001t0111g0104 a0001c0001t0117g0083 a0001c0001t0121g0186 a0001c0002t0005g0101 a0001c0005t0001g0195	14	212	0.0660	8	c.38+ others(23): Show c.38+8811_38+8818dupGTGTGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	1/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	15979042	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02818.hp2 others(2): Show HG02055.hp1 HG02572.hp2 HG02818.hp2 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0005 a0001c0001t0031	a0001c0001t0005g0034 a0001c0001t0005g0042 a0001c0001t0005g0098 others(2): Show a0001c0001t0005g0034 a0001c0001t0005g0042 a0001c0001t0005g0098 a0001c0001t0005g0169 a0001c0001t0031g0044	5	218	0.0229	8	c.218 others(27): Show c.2184-5938_2184-5931dupATATATAT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	15/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16022331	T T	TTTCCTTC others(1): Show TTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG01167.hp1 others(19): Show HG00642.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG02055.hp2 HG02056.hp2 HG02572.hp2 HG02615.hp2 HG02683.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03225.hp2 HG03453.hp1 NA18960.hp1 NA18968.hp1 NA18968.hp2 NA18977.hp2 NA18995.hp2 NA19079.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0029 a0001c0001t0031 a0001c0002t0001 a0001c0002t0003 a0001c0002t0034 a0001c0002t0039	a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0074 others(19): Show a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0172 a0001c0001t0004g0011 a0001c0001t0004g0016 a0001c0001t0004g0097 a0001c0001t0013g0023 a0001c0001t0029g0210 a0001c0001t0031g0044 a0001c0002t0001g0008 a0001c0002t0001g0147 a0001c0002t0001g0154 a0001c0002t0001g0159 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0055 a0001c0002t0003g0059 a0001c0002t0034g0072 a0001c0002t0039g0017	22	218	0.1009	8	c.162 others(27): Show c.1624-7289_1624-7282dupGGAAGGAA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	12/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16022373	T T	TCCTTCCT others(1): Show TCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01496.hp2 HG01891.hp2 others(4): Show HG01106.hp2 HG01496.hp2 HG01891.hp2 HG02155.hp2 HG03453.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0041 a0001c0001t0002 a0001c0001t0003 a0001c0001t0041	a0001c0001t0002g0073 a0001c0001t0002g0122 a0001c0001t0003g0002 others(4): Show a0001c0001t0002g0073 a0001c0001t0002g0122 a0001c0001t0003g0002 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0041g0037	7	218	0.0321	8	c.162 others(27): Show c.1624-7324_1624-7323insGAGGAAGG	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	12/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16044966	G G	GTCTATCT others(1): Show GTCTATCTA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18986.hp2 NA19062.hp1 others(2): Show NA18960.hp1 NA18986.hp2 NA19062.hp1 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0052 a0001c0001t0002g0079 a0001c0001t0002g0105 others(2): Show a0001c0001t0002g0052 a0001c0001t0002g0079 a0001c0001t0002g0105 a0001c0001t0002g0172 a0001c0001t0024g0104	5	218	0.0229	8	c.162 others(27): Show c.1623+1540_1623+1547dupTAGATAGA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	12/15			chr11	TogoVar

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