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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ARID1B_chr6_156772378_157215779	156778268	C C	CCAGCAGC others(23): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19030.hp1 NA19030.hp1	a0023 a0023	a0023c0040 a0023c0040	a0023c0040t0002 a0023c0040t0002	a0023c0040t0002g0044 a0023c0040t0002g0044	1	134	0.0075	30	c.611 others(37): Show c.611_612insGCAGCAACAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(43): Show p.Gln204_Gln205insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	915/10310	612/7119	204/2372	INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	156778847	G G	GGGC GGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp1 HG03471.hp1 HG03540.hp2 others(1): Show HG02559.hp1 HG03471.hp1 HG03540.hp2 NA21309.hp2	a0004 a0004	a0004c0009 a0004c0029 a0004c0030 a0004c0009 a0004c0029 a0004c0030	a0004c0009t0001 a0004c0009t0004 a0004c0029t0007 others(1): Show a0004c0009t0001 a0004c0009t0004 a0004c0029t0007 a0004c0030t0001	a0004c0009t0001g0088 a0004c0009t0004g0070 a0004c0029t0007g0087 others(1): Show a0004c0009t0001g0088 a0004c0009t0004g0070 a0004c0029t0007g0087 a0004c0030t0001g0089	4	148	0.0270	3	c.119 others(12): Show c.1191_1193dupCGG	p.Gly others(6): Show p.Gly398dup	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	1497/10310	1194/7119	398/2372	INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	156778889	C C	CGGA CGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03130.hp2 HG03579.hp2 HG03130.hp2 HG03579.hp2	a0019 a0020 a0019 a0020	a0019c0028 a0020c0013 a0019c0028 a0020c0013	a0019c0028t0001 a0020c0013t0009 a0019c0028t0001 a0020c0013t0009	a0019c0028t0001g0075 a0020c0013t0009g0038 a0019c0028t0001g0075 a0020c0013t0009g0038	2	148	0.0135	3	c.123 others(12): Show c.1232_1234dupGAG	p.Gly others(6): Show p.Gly411dup	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	1538/10310	1235/7119	412/2372	INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID3A_chr19_921035_980939	971949	G G	GGCA GGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(229): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0013	a0001c0001 a0001c0003 a0001c0005 others(29): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0014 a0001c0020 a0001c0021 a0001c0023 a0001c0026 a0001c0029 a0001c0033 a0001c0036 a0001c0049 a0001c0050 a0001c0053 a0003c0013 a0003c0016 a0003c0017 a0003c0027 a0003c0044 a0004c0015 a0005c0018 a0005c0042 a0006c0032 a0006c0039 a0007c0048 a0008c0024 a0009c0025 a0012c0047 a0013c0035	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(184): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0032 a0001c0001t0036 a0001c0001t0038 a0001c0001t0042 a0001c0001t0071 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0099 a0001c0001t0100 a0001c0001t0103 a0001c0001t0107 a0001c0001t0108 a0001c0001t0113 a0001c0001t0114 a0001c0001t0116 a0001c0001t0120 a0001c0001t0121 a0001c0001t0151 a0001c0001t0156 a0001c0001t0159 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0168 a0001c0001t0171 a0001c0001t0192 a0001c0001t0207 a0001c0001t0208 a0001c0001t0209 a0001c0001t0211 a0001c0001t0218 a0001c0001t0219 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0008 a0001c0003t0014 a0001c0003t0016 a0001c0003t0019 a0001c0003t0021 a0001c0003t0022 a0001c0003t0030 a0001c0003t0031 a0001c0003t0033 a0001c0003t0034 a0001c0003t0035 a0001c0003t0040 a0001c0003t0041 a0001c0003t0046 a0001c0003t0069 a0001c0003t0072 a0001c0003t0073 a0001c0003t0075 a0001c0003t0078 a0001c0003t0080 a0001c0003t0092 a0001c0003t0094 a0001c0003t0095 a0001c0003t0101 a0001c0003t0104 a0001c0003t0105 a0001c0003t0106 a0001c0003t0111 a0001c0003t0122 a0001c0003t0150 a0001c0003t0152 a0001c0003t0155 a0001c0003t0160 a0001c0003t0169 a0001c0003t0170 a0001c0003t0172 a0001c0003t0174 a0001c0003t0184 a0001c0003t0206 a0001c0003t0212 a0001c0005t0003 a0001c0005t0006 a0001c0005t0013 a0001c0005t0029 a0001c0005t0033 a0001c0005t0040 a0001c0005t0046 a0001c0005t0048 a0001c0005t0067 a0001c0005t0068 a0001c0005t0083 a0001c0005t0097 a0001c0005t0110 a0001c0005t0115 a0001c0005t0157 a0001c0005t0167 a0001c0005t0188 a0001c0006t0002 a0001c0006t0003 a0001c0006t0005 a0001c0006t0032 a0001c0006t0042 a0001c0006t0055 a0001c0006t0070 a0001c0006t0087 a0001c0006t0096 a0001c0006t0102 a0001c0006t0109 a0001c0006t0149 a0001c0006t0158 a0001c0006t0161 a0001c0006t0173 a0001c0007t0043 a0001c0007t0044 a0001c0007t0131 a0001c0007t0132 a0001c0007t0133 a0001c0007t0134 a0001c0007t0175 a0001c0007t0177 a0001c0007t0182 a0001c0007t0214 a0001c0007t0215 a0001c0010t0008 a0001c0010t0130 a0001c0010t0176 a0001c0010t0187 a0001c0010t0193 a0001c0014t0008 a0001c0014t0178 a0001c0014t0181 a0001c0014t0217 a0001c0020t0119 a0001c0020t0128 a0001c0021t0093 a0001c0021t0098 a0001c0023t0051 a0001c0023t0052 a0001c0026t0005 a0001c0029t0005 a0001c0033t0002 a0001c0036t0044 a0001c0049t0117 a0001c0050t0041 a0001c0053t0216 a0003c0013t0024 a0003c0013t0025 a0003c0013t0118 a0003c0013t0124 a0003c0016t0050 a0003c0016t0053 a0003c0016t0125 a0003c0016t0189 a0003c0017t0025 a0003c0017t0026 a0003c0027t0199 a0003c0044t0054 a0004c0015t0017 a0004c0015t0084 a0004c0015t0203 a0005c0018t0112 a0005c0018t0153 a0005c0042t0129 a0006c0032t0006 a0006c0039t0003 a0007c0048t0204 a0008c0024t0154 a0009c0025t0012 a0012c0047t0012 a0013c0035t0220	a0001c0001t0002g0016 a0001c0001t0002g0129 a0001c0001t0002g0133 others(229): Show a0001c0001t0002g0016 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0157 a0001c0001t0002g0189 a0001c0001t0002g0249 a0001c0001t0003g0017 a0001c0001t0003g0122 a0001c0001t0003g0149 a0001c0001t0003g0179 a0001c0001t0003g0234 a0001c0001t0003g0363 a0001c0001t0005g0143 a0001c0001t0005g0168 a0001c0001t0005g0191 a0001c0001t0005g0199 a0001c0001t0005g0207 a0001c0001t0006g0109 a0001c0001t0006g0171 a0001c0001t0012g0167 a0001c0001t0012g0233 a0001c0001t0013g0135 a0001c0001t0013g0160 a0001c0001t0013g0210 a0001c0001t0014g0159 a0001c0001t0014g0246 a0001c0001t0016g0211 a0001c0001t0016g0238 a0001c0001t0019g0136 a0001c0001t0019g0148 a0001c0001t0021g0001 a0001c0001t0021g0145 a0001c0001t0022g0001 a0001c0001t0032g0107 a0001c0001t0036g0184 a0001c0001t0036g0241 a0001c0001t0038g0166 a0001c0001t0038g0204 a0001c0001t0042g0253 a0001c0001t0071g0209 a0001c0001t0074g0337 a0001c0001t0076g0144 a0001c0001t0077g0223 a0001c0001t0079g0205 a0001c0001t0081g0244 a0001c0001t0082g0220 a0001c0001t0085g0108 a0001c0001t0086g0208 a0001c0001t0088g0154 a0001c0001t0089g0200 a0001c0001t0090g0243 a0001c0001t0099g0170 a0001c0001t0100g0248 a0001c0001t0103g0162 a0001c0001t0107g0226 a0001c0001t0108g0196 a0001c0001t0113g0245 a0001c0001t0114g0142 a0001c0001t0116g0180 a0001c0001t0120g0178 a0001c0001t0121g0155 a0001c0001t0151g0051 a0001c0001t0156g0247 a0001c0001t0159g0225 a0001c0001t0162g0163 a0001c0001t0163g0255 a0001c0001t0164g0146 a0001c0001t0165g0075 a0001c0001t0166g0175 a0001c0001t0168g0147 a0001c0001t0171g0101 a0001c0001t0192g0202 a0001c0001t0207g0052 a0001c0001t0208g0219 a0001c0001t0209g0112 a0001c0001t0211g0254 a0001c0001t0218g0256 a0001c0001t0219g0203 a0001c0003t0002g0027 a0001c0003t0002g0070 a0001c0003t0002g0098 a0001c0003t0002g0128 a0001c0003t0005g0032 a0001c0003t0006g0031 a0001c0003t0006g0036 a0001c0003t0006g0048 a0001c0003t0006g0072 a0001c0003t0008g0069 a0001c0003t0014g0046 a0001c0003t0014g0068 a0001c0003t0016g0030 a0001c0003t0019g0041 a0001c0003t0021g0038 a0001c0003t0022g0029 a0001c0003t0022g0302 a0001c0003t0030g0354 a0001c0003t0030g0359 a0001c0003t0031g0044 a0001c0003t0031g0132 a0001c0003t0033g0071 a0001c0003t0034g0317 a0001c0003t0034g0355 a0001c0003t0035g0307 a0001c0003t0035g0316 a0001c0003t0040g0306 a0001c0003t0041g0338 a0001c0003t0046g0056 a0001c0003t0069g0131 a0001c0003t0072g0314 a0001c0003t0073g0349 a0001c0003t0075g0309 a0001c0003t0078g0301 a0001c0003t0080g0055 a0001c0003t0092g0347 a0001c0003t0094g0053 a0001c0003t0095g0003 a0001c0003t0101g0217 a0001c0003t0104g0312 a0001c0003t0105g0308 a0001c0003t0106g0073 a0001c0003t0111g0021 a0001c0003t0122g0361 a0001c0003t0150g0049 a0001c0003t0152g0362 a0001c0003t0155g0028 a0001c0003t0160g0339 a0001c0003t0169g0267 a0001c0003t0170g0350 a0001c0003t0172g0039 a0001c0003t0174g0045 a0001c0003t0184g0221 a0001c0003t0206g0054 a0001c0003t0212g0067 a0001c0005t0003g0084 a0001c0005t0003g0092 a0001c0005t0006g0081 a0001c0005t0006g0088 a0001c0005t0013g0096 a0001c0005t0029g0318 a0001c0005t0029g0321 a0001c0005t0033g0085 a0001c0005t0040g0322 a0001c0005t0046g0079 a0001c0005t0048g0083 a0001c0005t0067g0319 a0001c0005t0068g0091 a0001c0005t0083g0251 a0001c0005t0097g0087 a0001c0005t0110g0082 a0001c0005t0115g0097 a0001c0005t0157g0103 a0001c0005t0167g0095 a0001c0005t0188g0080 a0001c0006t0002g0279 a0001c0006t0003g0260 a0001c0006t0003g0293 a0001c0006t0005g0283 a0001c0006t0032g0006 a0001c0006t0042g0282 a0001c0006t0055g0263 a0001c0006t0070g0296 a0001c0006t0087g0262 a0001c0006t0096g0272 a0001c0006t0102g0294 a0001c0006t0109g0280 a0001c0006t0149g0275 a0001c0006t0158g0235 a0001c0006t0161g0261 a0001c0006t0173g0277 a0001c0007t0043g0198 a0001c0007t0043g0214 a0001c0007t0044g0156 a0001c0007t0131g0216 a0001c0007t0132g0113 a0001c0007t0133g0130 a0001c0007t0134g0115 a0001c0007t0175g0197 a0001c0007t0177g0257 a0001c0007t0182g0213 a0001c0007t0214g0236 a0001c0007t0215g0181 a0001c0010t0008g0074 a0001c0010t0008g0102 a0001c0010t0130g0037 a0001c0010t0176g0152 a0001c0010t0187g0062 a0001c0010t0193g0040 a0001c0014t0008g0291 a0001c0014t0178g0284 a0001c0014t0181g0141 a0001c0014t0217g0264 a0001c0020t0119g0323 a0001c0020t0128g0324 a0001c0021t0093g0015 a0001c0021t0098g0281 a0001c0023t0051g0009 a0001c0023t0052g0008 a0001c0026t0005g0299 a0001c0029t0005g0212 a0001c0033t0002g0348 a0001c0036t0044g0089 a0001c0049t0117g0004 a0001c0050t0041g0276 a0001c0053t0216g0250 a0003c0013t0024g0310 a0003c0013t0024g0313 a0003c0013t0025g0023 a0003c0013t0118g0344 a0003c0013t0124g0315 a0003c0016t0050g0005 a0003c0016t0053g0010 a0003c0016t0125g0278 a0003c0016t0189g0012 a0003c0017t0025g0151 a0003c0017t0026g0150 a0003c0017t0026g0242 a0003c0027t0199g0240 a0003c0044t0054g0353 a0004c0015t0017g0325 a0004c0015t0017g0326 a0004c0015t0084g0342 a0004c0015t0203g0340 a0005c0018t0112g0305 a0005c0018t0153g0304 a0005c0042t0129g0352 a0006c0032t0006g0110 a0006c0039t0003g0086 a0007c0048t0204g0259 a0008c0024t0154g0127 a0009c0025t0012g0034 a0012c0047t0012g0292 a0013c0035t0220g0237	232	349	0.6648	3	c.167 others(12): Show c.1676_1678dupGCA	p.Ser others(6): Show p.Ser559dup	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	9/9	1971/5948	1679/1782	560/593	INFO_REALIGN_3_PRIME	chr19	TogoVar
ARIH1_chr15_72469330_72607987	72474873	T T	TGGC TGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG01074.hp1 HG01978.hp1 others(2): Show HG00140.hp2 HG01074.hp1 HG01978.hp1 HG02004.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0019 a0002c0002t0001 a0002c0002t0002 a0002c0002t0019	a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 others(2): Show a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0002g0128 a0002c0002t0019g0131	5	260	0.0192	3	c.255 others(10): Show c.255_257dupCGG	p.Gly others(5): Show p.Gly86dup	ARIH1	ENSG00000166233.15	transcript	ENST00000379887.9	protein_coding	1/14	568/21679	258/1674	86/557	INFO_REALIGN_3_PRIME	chr15	TogoVar
ARMCX4_chrX_101480456_101500807	101490931	G G	GGATGGGT others(14): Show GGATGGGTGCAACAGGCTCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19006.hp1 NA19006.hp1	a0038 a0038	a0038c0039 a0038c0039	a0038c0039t0002 a0038c0039t0002	a0038c0039t0002g0001 a0038c0039t0002g0001	1	324	0.0031	21	c.234 others(30): Show c.2343_2363dupGATGGGTGCAACAGGCTCTGT	p.Val others(34): Show p.Val788_Gln789insMetGlyAlaThrGlySerVal	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	2875/7729	2364/6873	788/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGATGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19064.hp2 NA19064.hp2	a0039 a0039	a0039c0031 a0039c0031	a0039c0031t0002 a0039c0031t0002	a0039c0031t0002g0001 a0039c0031t0002g0001	1	3	0.3333	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGATGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAspGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(410): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGCTGGGCTGGGGCTGAGGCTGGAGCTG GGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGG GCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGC TGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTG GGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGG GCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGC TCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG AGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18976.hp1 NA18976.hp1	a0035 a0035	a0035c0032 a0035c0032	a0035c0032t0002 a0035c0032t0002	a0035c0032t0002g0027 a0035c0032t0002g0027	1	3	0.3333	417	c.546 others(426): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGCTGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAG GCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGC TGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTG AGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGG ACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGC TGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTG AGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGG GCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(432): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyTrpAlaGlyAlaGluAlaGlyAlaGl yThrGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyA laGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAla GlyThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGl yAlaGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgA laGluAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAla ArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGl uAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(341): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02027.hp1 HG02027.hp1	a0024 a0024	a0024c0035 a0024c0035	a0024c0035t0002 a0024c0035t0002	a0024c0035t0002g0028 a0024c0035t0002g0028	1	3	0.3333	348	c.546 others(357): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGG	p.Gly others(363): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(94): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01099.hp1 HG01175.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG03041.hp2 HG03139.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp1 NA20905.hp1	a0002 a0018 a0021 others(5): Show a0002 a0018 a0021 a0023 a0026 a0031 a0038 a0040	a0002c0002 a0002c0006 a0002c0033 others(8): Show a0002c0002 a0002c0006 a0002c0033 a0002c0034 a0018c0025 a0021c0026 a0023c0027 a0026c0029 a0031c0022 a0038c0039 a0040c0028	a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 others(11): Show a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0006t0002 a0002c0033t0002 a0002c0034t0002 a0018c0025t0002 a0021c0026t0002 a0023c0027t0002 a0026c0029t0002 a0031c0022t0002 a0038c0039t0002 a0040c0028t0002	a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0007g0001 others(12): Show a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0007g0001 a0002c0002t0008g0001 a0002c0002t0009g0001 a0002c0006t0002g0001 a0002c0033t0002g0001 a0002c0034t0002g0001 a0018c0025t0002g0001 a0021c0026t0002g0001 a0023c0027t0002g0001 a0026c0029t0002g0001 a0031c0022t0002g0001 a0038c0039t0002g0001 a0040c0028t0002g0001	97	99	0.9798	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0002 a0002c0036t0002	a0002c0036t0002g0001 a0002c0036t0002g0001	1	3	0.3333	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTTGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaTrpAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02074.hp1 NA18964.hp1 NA18997.hp1 HG02074.hp1 NA18964.hp1 NA18997.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0001 a0002c0012t0002g0006 a0002c0012t0002g0001 a0002c0012t0002g0006	3	5	0.6000	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(413): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGGCTGAGGTTGAGGCTGGGGCTGGGGCTGAGG TTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCT AGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGA GGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGG CTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp2 HG01346.hp1 HG01884.hp1 others(17): Show HG00438.hp2 HG01346.hp1 HG01884.hp1 HG01934.hp1 HG01993.hp2 HG02129.hp1 HG02145.hp1 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02970.hp2 HG03225.hp1 HG03239.hp2 HG03540.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 NA18747.hp1 NA18975.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0010 a0003c0003t0001g0011 others(4): Show a0003c0003t0001g0004 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021	20	22	0.9091	420	c.546 others(429): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGGCTGAGGTTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCT GGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGA GGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGG CTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(435): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyAlaGluValGluAlaGlyAlaGlyAlaGluVa lGlyAlaGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaA rgAlaGluAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlu AlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAl aGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(389): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGG CTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCCGAGGTTGGGGCT GGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGG GGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp2 HG02280.hp1 HG03098.hp1 HG02257.hp2 HG02280.hp1 HG03098.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0010 a0010c0013t0001g0010	3	5	0.6000	396	c.546 others(405): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCT GGGGCTGAGGCTGGGGCTAGGGCTGAGGCCGAGGTTGGGGCTGGGGCTGG GGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGG CTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCT GGGGCTGGGG	p.Gly others(411): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyAlaGluValGlyAlaGlyThrGluAlaGlyAl aArgAlaGlyAlaGluAlaGlyAlaArgAlaGluAlaGluValGlyAlaG lyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly AlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAl aGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(389): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGG CTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCT GGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGG GGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00609.hp1 HG01109.hp1 HG01243.hp1 others(32): Show HG00609.hp1 HG01109.hp1 HG01243.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG03942.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18981.hp1 NA18999.hp1 NA19002.hp1 NA19011.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0004 a0005 a0007 others(3): Show a0004 a0005 a0007 a0014 a0015 a0028	a0004c0005 a0004c0011 a0004c0042 others(7): Show a0004c0005 a0004c0011 a0004c0042 a0004c0057 a0005c0007 a0005c0015 a0007c0008 a0014c0020 a0015c0019 a0028c0045	a0004c0005t0001 a0004c0005t0004 a0004c0011t0004 others(8): Show a0004c0005t0001 a0004c0005t0004 a0004c0011t0004 a0004c0042t0004 a0004c0057t0004 a0005c0007t0002 a0005c0015t0002 a0007c0008t0005 a0014c0020t0001 a0015c0019t0001 a0028c0045t0001	a0004c0005t0001g0014 a0004c0005t0004g0005 a0004c0005t0004g0015 others(11): Show a0004c0005t0001g0014 a0004c0005t0004g0005 a0004c0005t0004g0015 a0004c0011t0004g0005 a0004c0042t0004g0005 a0004c0057t0004g0005 a0005c0007t0002g0001 a0005c0015t0002g0001 a0005c0015t0002g0029 a0007c0008t0005g0007 a0014c0020t0001g0009 a0014c0020t0001g0014 a0015c0019t0001g0009 a0028c0045t0001g0009	35	37	0.9459	396	c.546 others(405): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCT GGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGG GGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGG CTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCT GGGGCTGGGG	p.Gly others(411): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyAlaGluValGlyAlaGlyThrGluAlaGlyAl aArgAlaGlyAlaGluAlaGlyAlaArgAlaGluAlaGluValGlyAlaG lyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly AlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAl aGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19082.hp1 NA19091.hp1 NA19082.hp1 NA19091.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0001 a0002c0016t0002g0001	2	4	0.5000	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(425): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGAGGCTGGGG CTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCT GAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGA GGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03130.hp1 HG03130.hp1	a0029 a0029	a0029c0043 a0029c0043	a0029c0043t0001 a0029c0043t0001	a0029c0043t0001g0025 a0029c0043t0001g0025	1	3	0.3333	432	c.546 others(441): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGAGGCTGGGGCTGGGGCT GAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGG GGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGG CTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(447): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlu AlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGluAlaGlyAl aGlyAlaGluValGlyAlaGlyThrGluAlaGlyAlaArgAlaGlyAlaG luAlaGlyAlaArgAlaGluAlaGluValGlyAlaGlyAlaGlyAlaGlu AlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAl aGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaG ly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(389): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGACT GAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGG CTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCT GGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGG GGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18946.hp2 NA18946.hp2	a0032 a0032	a0032c0037 a0032c0037	a0032c0037t0002 a0032c0037t0002	a0032c0037t0002g0001 a0032c0037t0002g0001	1	3	0.3333	396	c.546 others(405): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCT GGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGG GGCTGGGGCTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCT GGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGG GGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGG CTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCT GGGGCTGGGG	p.Gly others(411): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAl aGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGlyThrG luAlaGlyAlaGlyAlaGluAlaGlyAlaGlyThrGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyAlaGluValGlyAlaGlyThrGluAlaGlyAl aArgAlaGlyAlaGluAlaGlyAlaArgAlaGluAlaGluValGlyAlaG lyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly AlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAl aGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(407): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGG CTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCT GAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCG GGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02723.hp2 HG02965.hp1 HG03471.hp1 others(2): Show HG02723.hp2 HG02965.hp1 HG03471.hp1 HG06807.hp1 NA20752.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0001 a0009c0009t0001g0001	5	7	0.7143	414	c.546 others(423): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(429): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(389): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGA CTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCT GGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGG CTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCT GGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGG GGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp1 HG02109.hp2 HG02257.hp1 others(8): Show HG01891.hp1 HG02109.hp2 HG02257.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03195.hp2 HG03453.hp2 NA18522.hp1	a0006 a0016 a0025 a0006 a0016 a0025	a0006c0004 a0016c0014 a0025c0024 a0006c0004 a0016c0014 a0025c0024	a0006c0004t0001 a0016c0014t0001 a0025c0024t0001 a0006c0004t0001 a0016c0014t0001 a0025c0024t0001	a0006c0004t0001g0001 a0006c0004t0001g0006 a0016c0014t0001g0001 others(1): Show a0006c0004t0001g0001 a0006c0004t0001g0006 a0016c0014t0001g0001 a0025c0024t0001g0001	11	13	0.8462	396	c.546 others(405): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCT GGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGG GGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGG CTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCT GGGGCTGGGG	p.Gly others(411): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyAlaGluValGlyAlaGlyThrGluAlaGlyAl aArgAlaGlyAlaGluAlaGlyAlaArgAlaGluAlaGluValGlyAlaG lyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly AlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAl aGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(413): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGG TTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCT AGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGA GGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGG CTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01943.hp1 HG01943.hp1	a0022 a0022	a0022c0049 a0022c0049	a0022c0049t0001 a0022c0049t0001	a0022c0049t0001g0002 a0022c0049t0001g0002	1	3	0.3333	420	c.546 others(429): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGA CTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCT GGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGA GGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGG CTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(435): Show p.Gly1820_Ala1821insValGlyAlaGlyValGlyAlaGlyAlaGly AlaGluAlaGluAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaG lyAlaGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGly AlaGlyThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluVa lGlyAlaGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaA rgAlaGluAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlu AlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAl aGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(419): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCT GGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGG GGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGG CTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(127): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02970.hp1 HG03017.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04204.hp1 NA18941.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18990.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1	a0001 a0008 a0011 others(3): Show a0001 a0008 a0011 a0013 a0020 a0030	a0001c0001 a0001c0041 a0001c0051 others(7): Show a0001c0001 a0001c0041 a0001c0051 a0001c0052 a0001c0053 a0008c0010 a0011c0017 a0013c0018 a0020c0046 a0030c0040	a0001c0001t0001 a0001c0001t0003 a0001c0041t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0041t0001 a0001c0051t0001 a0001c0052t0001 a0001c0053t0001 a0008c0010t0001 a0011c0017t0006 a0013c0018t0001 a0020c0046t0001 a0030c0040t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0041t0001g0002 a0001c0051t0001g0002 a0001c0052t0001g0002 a0001c0053t0001g0002 a0008c0010t0001g0003 a0011c0017t0006g0002 a0013c0018t0001g0003 a0020c0046t0001g0002 a0030c0040t0001g0002	130	132	0.9848	426	c.546 others(435): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAG GGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGG CTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCT GAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(441): Show p.Gly1820_Ala1821insValGlyAlaGlyValGlyAlaGlyAlaGly AlaGluAlaGluAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaG lyAlaGlyAlaGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlu AlaGlyAlaGlyThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAl aGluValGlyAlaGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaG lyAlaArgAlaGluAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGly AlaGluAlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAl aGlyAlaGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(419): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGACTGGGGCTGGGGCTAGGGCTGGGGCTGAGGCT GGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGG GGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGG CTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0001 a0001c0054t0001	a0001c0054t0001g0002 a0001c0054t0001g0002	1	3	0.3333	426	c.546 others(435): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGACTGGGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAG GGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGG CTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCT GAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(441): Show p.Gly1820_Ala1821insValGlyAlaGlyValGlyAlaGlyAlaGly AlaGluAlaGluAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaG lyAlaGlyAlaGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlu AlaGlyAlaGlyThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAl aGluValGlyAlaGlyThrGlyAlaGlyAlaArgAlaGlyAlaGluAlaG lyAlaArgAlaGluAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGly AlaGluAlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAl aGlyAlaGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(401): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGA CTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCT GAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGA GGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGG CTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp1 HG03516.hp2 HG00738.hp1 HG03516.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0002 a0012c0021t0001g0026 a0012c0021t0001g0002 a0012c0021t0001g0026	2	4	0.5000	408	c.546 others(417): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCT GGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGG GGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGG CTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCT CGGGCTGAGGCTGGGGCTGGGG	p.Gly others(423): Show p.Gly1820_Ala1821insValGlyAlaGlyValGlyAlaGlyAlaGly AlaGluAlaGluAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaG lyAlaGlyAlaGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlu AlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAlaGlyTh rGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaGluAlaG luValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGlu AlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAl aGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(431): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGTTGG GGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGG CTGGGGCTGAGGCTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCT GGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGG GGCTGGGGCTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCT GGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGG GGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGG CTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00099.hp2	a0019 a0019	a0019c0056 a0019c0056	a0019c0056t0001 a0019c0056t0001	a0019c0056t0001g0002 a0019c0056t0001g0002	1	3	0.3333	438	c.546 others(447): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGG CTGGGGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCT GAGGCTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCT GGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGA GGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCT GGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGG GG	p.Gly others(453): Show p.Gly1820_Ala1821insValGlyAlaGlyValGlyAlaGlyValGly AlaGlyAlaGlyAlaGluAlaGluAlaGlyAlaGluAlaGlyAlaGlyAl aGlyAlaGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlyAlaG lyAlaGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGlyThrGluAlaGly AlaGlyAlaGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyThrGluAl aGlyAlaGlyAlaGluValGlyAlaGlyThrGluAlaGlyAlaArgAlaG lyAlaGluAlaGlyAlaArgAlaGluAlaGluValGlyAlaGlyAlaGly AlaGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGlyAlaGluAl aGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGluAlaG lyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494047	G G	GGGGTTGG others(389): Show GGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGGCTGGGGCTGG GGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCTGGGGCTGGGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGACT GAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGG GACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGG CTAGGGCTGGAGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCT GGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGG GGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0023 a0006c0023t0001g0023	1	324	0.0031	396	c.546 others(405): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGG GGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACT GAGGCTGGGGCTAGGGCTGGAGCTGAGGCTGGGGCTAGGGCTGAGGCTGA GGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGG CTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCT GAGGCTCGGG	p.Gly others(411): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyTh rGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaG lyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGly ThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAl aGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaG luAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArg AlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGluAlaArg	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494096	G G	GGGCTGGG others(407): Show GGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCTGGGGCTGGG GCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGAC TGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTG GGGCTGAGGTTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAG GCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGT TGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTG GGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAG GCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGC TGAGGCTGGGGCTGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp1 HG02559.hp1	a0027 a0027	a0027c0044 a0027c0044	a0027c0044t0001 a0027c0044t0001	a0027c0044t0001g0004 a0027c0044t0001g0004	1	324	0.0031	414	c.552 others(423): Show c.5524_5525insAGGCTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTG GGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAG GCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGC TGAGGTTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTG GGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGG GCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGC TGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC GGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAG GCTGGGGCTGAGGCTGGGGCTGGGGCTG	p.Ala others(429): Show p.Ala1841_Gly1842insGluAlaGlyAlaGlyThrGluAlaGlyAla GlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGl yThrGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyThrGluAlaGlyA laGlyAlaGluValGluAlaGlyAlaGlyAlaGluValGlyAlaGlyThr GluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaGluAlaGl uValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGluA laGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAla GluAlaArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGl yAlaGluAlaGlyAlaGluAlaGlyAlaGlyAla	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	6036/7729	5525/6873	1842/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	T T	TGCA TGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00741.hp2 HG01169.hp1 HG01515.hp1 others(15): Show HG00741.hp2 HG01169.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG02071.hp1 HG02300.hp1 HG02717.hp1 HG02976.hp1 HG03195.hp2 HG03710.hp1 NA18952.hp1 NA18965.hp1 NA18988.hp1 NA19000.hp1 NA19007.hp1 NA19083.hp1	a0006 a0006	a0006c0003 a0006c0031 a0006c0003 a0006c0031	a0006c0003t0001 a0006c0003t0002 a0006c0003t0004 others(6): Show a0006c0003t0001 a0006c0003t0002 a0006c0003t0004 a0006c0003t0007 a0006c0003t0009 a0006c0003t0015 a0006c0003t0017 a0006c0003t0026 a0006c0031t0043	a0006c0003t0001g0002 a0006c0003t0001g0033 a0006c0003t0001g0098 others(15): Show a0006c0003t0001g0002 a0006c0003t0001g0033 a0006c0003t0001g0098 a0006c0003t0001g0104 a0006c0003t0001g0110 a0006c0003t0002g0009 a0006c0003t0002g0036 a0006c0003t0002g0067 a0006c0003t0002g0089 a0006c0003t0002g0097 a0006c0003t0004g0177 a0006c0003t0004g0178 a0006c0003t0007g0058 a0006c0003t0009g0084 a0006c0003t0015g0006 a0006c0003t0017g0060 a0006c0003t0026g0061 a0006c0031t0043g0167	18	42	0.4286	3	c.237 others(10): Show c.237_239dupGCA	p.Gln others(5): Show p.Gln80dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1366/10667	240/2763	80/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	T T	TGCAGCA TGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00621.hp1 HG00735.hp1 others(16): Show HG00140.hp1 HG00621.hp1 HG00735.hp1 HG01433.hp1 HG02615.hp1 HG03130.hp1 HG03490.hp1 NA18612.hp1 NA18944.hp1 NA18955.hp1 NA18967.hp1 NA19043.hp1 NA19066.hp1 NA19067.hp1 NA19072.hp1 NA19079.hp1 NA19088.hp1 NA20300.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0032 a0004c0033 a0004c0004 a0004c0032 a0004c0033	a0004c0004t0001 a0004c0004t0003 a0004c0004t0007 others(10): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0007 a0004c0004t0012 a0004c0004t0021 a0004c0004t0027 a0004c0004t0031 a0004c0004t0046 a0004c0004t0047 a0004c0004t0048 a0004c0004t0051 a0004c0032t0058 a0004c0033t0054	a0004c0004t0001g0042 a0004c0004t0001g0051 a0004c0004t0001g0054 others(16): Show a0004c0004t0001g0042 a0004c0004t0001g0051 a0004c0004t0001g0054 a0004c0004t0001g0076 a0004c0004t0001g0091 a0004c0004t0001g0102 a0004c0004t0003g0037 a0004c0004t0003g0081 a0004c0004t0007g0038 a0004c0004t0012g0103 a0004c0004t0021g0021 a0004c0004t0027g0182 a0004c0004t0031g0170 a0004c0004t0046g0016 a0004c0004t0047g0053 a0004c0004t0048g0087 a0004c0004t0051g0078 a0004c0032t0058g0169 a0004c0033t0054g0101	19	43	0.4419	6	c.234 others(13): Show c.234_239dupGCAGCA	p.Gln others(11): Show p.Gln79_Gln80dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1366/10667	240/2763	80/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	T T	TGCAGCAG others(2): Show TGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00609.hp1 HG00673.hp1 HG01069.hp1 others(18): Show HG00609.hp1 HG00673.hp1 HG01069.hp1 HG01081.hp1 HG01258.hp1 HG01358.hp1 HG02040.hp1 HG02083.hp1 HG02258.hp1 HG02698.hp1 HG03041.hp1 HG03491.hp2 HG03540.hp1 HG03704.hp1 HG03834.hp1 NA18940.hp1 NA18945.hp1 NA18982.hp1 NA19009.hp1 NA19068.hp1 NA20752.hp1	a0003 a0003	a0003c0002 a0003c0021 a0003c0034 a0003c0002 a0003c0021 a0003c0034	a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 others(9): Show a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0009 a0003c0002t0012 a0003c0002t0013 a0003c0002t0015 a0003c0002t0017 a0003c0002t0055 a0003c0021t0006 a0003c0021t0008 a0003c0034t0008	a0003c0002t0001g0023 a0003c0002t0001g0027 a0003c0002t0001g0055 others(18): Show a0003c0002t0001g0023 a0003c0002t0001g0027 a0003c0002t0001g0055 a0003c0002t0001g0069 a0003c0002t0001g0093 a0003c0002t0002g0040 a0003c0002t0003g0017 a0003c0002t0003g0034 a0003c0002t0003g0057 a0003c0002t0009g0028 a0003c0002t0012g0020 a0003c0002t0012g0189 a0003c0002t0012g0190 a0003c0002t0013g0086 a0003c0002t0015g0026 a0003c0002t0017g0005 a0003c0002t0017g0014 a0003c0002t0055g0056 a0003c0021t0006g0161 a0003c0021t0008g0123 a0003c0034t0008g0185	21	45	0.4667	9	c.231 others(16): Show c.231_239dupGCAGCAGCA	p.Gln others(11): Show p.Gln78_Gln80dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1366/10667	240/2763	80/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	T T	TGCAGCAG others(5): Show TGCAGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01261.hp1 HG02027.hp1 NA18974.hp1 others(2): Show HG01261.hp1 HG02027.hp1 NA18974.hp1 NA19005.hp1 NA19006.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0003 a0011c0013t0009 others(1): Show a0011c0013t0001 a0011c0013t0003 a0011c0013t0009 a0011c0013t0013	a0011c0013t0001g0015 a0011c0013t0001g0052 a0011c0013t0003g0107 others(2): Show a0011c0013t0001g0015 a0011c0013t0001g0052 a0011c0013t0003g0107 a0011c0013t0009g0047 a0011c0013t0013g0106	5	29	0.1724	12	c.228 others(19): Show c.228_239dupGCAGCAGCAGCA	p.Gln others(11): Show p.Gln77_Gln80dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1366/10667	240/2763	80/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	T T	TGCAGCAG others(8): Show TGCAGCAGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01934.hp1 HG02723.hp2 HG02738.hp1 others(3): Show HG01934.hp1 HG02723.hp2 HG02738.hp1 NA18962.hp1 NA18971.hp1 NA19056.hp1	a0010 a0010	a0010c0014 a0010c0035 a0010c0014 a0010c0035	a0010c0014t0001 a0010c0014t0003 a0010c0014t0013 others(1): Show a0010c0014t0001 a0010c0014t0003 a0010c0014t0013 a0010c0035t0014	a0010c0014t0001g0077 a0010c0014t0001g0099 a0010c0014t0003g0064 others(3): Show a0010c0014t0001g0077 a0010c0014t0001g0099 a0010c0014t0003g0064 a0010c0014t0013g0031 a0010c0014t0013g0090 a0010c0035t0014g0157	6	30	0.2000	15	c.225 others(22): Show c.225_239dupGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln76_Gln80dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1366/10667	240/2763	80/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	T T	TGCAGCAG others(11): Show TGCAGCAGCAGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18995.hp1 NA18995.hp1	a0018 a0018	a0018c0036 a0018c0036	a0018c0036t0021 a0018c0036t0021	a0018c0036t0021g0063 a0018c0036t0021g0063	1	25	0.0400	18	c.222 others(25): Show c.222_239dupGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln75_Gln80dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1366/10667	240/2763	80/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	T T	TGCAGCAG others(14): Show TGCAGCAGCAGCAGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19060.hp1 NA19060.hp1	a0019 a0019	a0019c0037 a0019c0037	a0019c0037t0049 a0019c0037t0049	a0019c0037t0049g0082 a0019c0037t0049g0082	1	25	0.0400	21	c.219 others(28): Show c.219_239dupGCAGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln74_Gln80dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1366/10667	240/2763	80/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	T T	TGGC TGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00642.hp1 HG00738.hp1 others(29): Show HG00099.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01192.hp1 HG01943.hp1 HG02015.hp1 HG02074.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02818.hp1 HG02922.hp2 HG03098.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 NA18906.hp1 NA18989.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0014	a0001c0001 a0001c0009 a0002c0005 others(10): Show a0001c0001 a0001c0009 a0002c0005 a0003c0002 a0003c0021 a0004c0004 a0005c0006 a0006c0003 a0007c0008 a0007c0016 a0008c0007 a0009c0012 a0014c0020	a0001c0001t0050 a0001c0009t0006 a0001c0009t0008 others(24): Show a0001c0001t0050 a0001c0009t0006 a0001c0009t0008 a0001c0009t0042 a0002c0005t0001 a0002c0005t0007 a0002c0005t0009 a0003c0002t0012 a0003c0021t0006 a0004c0004t0046 a0005c0006t0003 a0005c0006t0008 a0005c0006t0010 a0005c0006t0028 a0005c0006t0038 a0005c0006t0040 a0006c0003t0002 a0007c0008t0006 a0007c0008t0018 a0007c0008t0057 a0007c0016t0003 a0008c0007t0006 a0008c0007t0010 a0008c0007t0011 a0009c0012t0024 a0009c0012t0037 a0014c0020t0003	a0001c0001t0050g0050 a0001c0009t0006g0168 a0001c0009t0008g0128 others(29): Show a0001c0001t0050g0050 a0001c0009t0006g0168 a0001c0009t0008g0128 a0001c0009t0008g0132 a0001c0009t0042g0135 a0002c0005t0001g0018 a0002c0005t0001g0044 a0002c0005t0007g0045 a0002c0005t0009g0035 a0003c0002t0012g0020 a0003c0021t0006g0161 a0004c0004t0046g0016 a0005c0006t0003g0003 a0005c0006t0008g0122 a0005c0006t0010g0003 a0005c0006t0028g0153 a0005c0006t0038g0126 a0005c0006t0040g0141 a0006c0003t0002g0036 a0007c0008t0006g0136 a0007c0008t0006g0149 a0007c0008t0018g0130 a0007c0008t0057g0121 a0007c0016t0003g0071 a0008c0007t0006g0140 a0008c0007t0006g0150 a0008c0007t0006g0163 a0008c0007t0010g0124 a0008c0007t0011g0148 a0009c0012t0024g0146 a0009c0012t0037g0143 a0014c0020t0003g0073	32	112	0.2857	3	c.141 others(12): Show c.1418_1420dupGCG	p.Gly others(6): Show p.Gly473dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2547/10667	1421/2763	474/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	T T	TGGCGGC TGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01106.hp1 HG01891.hp1 HG02257.hp2 others(7): Show HG01106.hp1 HG01891.hp1 HG02257.hp2 HG02615.hp2 HG02886.hp1 HG03195.hp2 HG03225.hp1 HG03942.hp1 HG04204.hp1 NA18906.hp2	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0007 a0009 a0013 a0017	a0001c0001 a0005c0006 a0005c0011 others(5): Show a0001c0001 a0005c0006 a0005c0011 a0006c0031 a0007c0008 a0009c0015 a0013c0019 a0017c0024	a0001c0001t0002 a0005c0006t0010 a0005c0006t0011 others(7): Show a0001c0001t0002 a0005c0006t0010 a0005c0006t0011 a0005c0011t0012 a0006c0031t0043 a0007c0008t0023 a0009c0015t0001 a0013c0019t0016 a0013c0019t0029 a0017c0024t0011	a0001c0001t0002g0100 a0005c0006t0010g0120 a0005c0006t0011g0004 others(7): Show a0001c0001t0002g0100 a0005c0006t0010g0120 a0005c0006t0011g0004 a0005c0011t0012g0108 a0006c0031t0043g0167 a0007c0008t0023g0127 a0009c0015t0001g0059 a0013c0019t0016g0125 a0013c0019t0029g0152 a0017c0024t0011g0162	10	90	0.1111	6	c.141 others(15): Show c.1415_1420dupGCGGCG	p.Gly others(13): Show p.Gly472_Gly473dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2547/10667	1421/2763	474/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	T T	TGGCGGCG others(5): Show TGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG02055.hp1 HG02257.hp1 HG01081.hp2 HG02055.hp1 HG02257.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0009 a0007c0016 a0008c0017 a0001c0009 a0007c0016 a0008c0017	a0001c0009t0010 a0007c0016t0005 a0008c0017t0005 a0001c0009t0010 a0007c0016t0005 a0008c0017t0005	a0001c0009t0010g0113 a0007c0016t0005g0173 a0008c0017t0005g0174 a0001c0009t0010g0113 a0007c0016t0005g0173 a0008c0017t0005g0174	3	83	0.0361	12	c.140 others(21): Show c.1409_1420dupGCGGCGGCGGCG	p.Gly others(13): Show p.Gly470_Gly473dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2547/10667	1421/2763	474/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	T T	TGGCGGCG others(11): Show TGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0011 a0012c0018t0011	a0012c0018t0011g0019 a0012c0018t0011g0134 a0012c0018t0011g0019 a0012c0018t0011g0134	2	82	0.0244	18	c.140 others(27): Show c.1403_1420dupGCGGCGGCGGCGGCGGCG	p.Gly others(13): Show p.Gly468_Gly473dup	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2547/10667	1421/2763	474/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
ASB18_chr2_236188459_236269406	236237820	G G	GGCGCCGC others(26): Show GGCGCCGCGGCCGCCGGGGCTGGCGTCTGGGTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19085.hp1 NA19085.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0168 a0013c0019t0001g0168	1	248	0.0040	33	c.432 others(40): Show c.432_464dupAGACCCAGACGCCAGCCCCGGCGGCCGCGGCGC	p.Ala others(46): Show p.Ala155_Leu156insAspProAspAlaSerProGlyGlyArgGlyAl a	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	3/6	525/2875	464/1401	155/466		chr2	TogoVar
ASPHD1_chr16_29895488_29911056	29901481	G G	GGGT GGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00639.hp1 HG00642.hp1 others(56): Show HG00099.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG02027.hp1 HG02109.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 NA18945.hp1 NA18948.hp1 NA18964.hp2 NA18971.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19012.hp2 NA19060.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(14): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0050 a0002c0002t0001g0057 a0002c0002t0001g0061	59	392	0.1505	3	c.513 others(10): Show c.513_515dupTGG	p.Gly others(6): Show p.Gly172dup	ASPHD1	ENSG00000174939.11	transcript	ENST00000308748.10	protein_coding	1/3	1000/1816	516/1173	172/390	INFO_REALIGN_3_PRIME	chr16	TogoVar
ASTN2_chr9_116418112_117420057	117414630	C C	CGCG CGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03041.hp1 HG03471.hp2 NA20300.hp1 others(1): Show HG03041.hp1 HG03471.hp2 NA20300.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 others(1): Show a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006	a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 others(1): Show a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 a0002c0004t0006g0003	4	100	0.0400	3	c.306 others(10): Show c.306_308dupCGC	p.Ala others(6): Show p.Ala103dup	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/23	427/6878	308/4020	103/1339		chr9	TogoVar
ATAD2_chr8_123314850_123401447	123369918	T T	TTCA TTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp2 HG01891.hp1 HG02486.hp1 others(12): Show HG01243.hp2 HG01891.hp1 HG02486.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03486.hp2 HG06807.hp2 NA18971.hp1 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0182 a0001c0002t0001g0113 a0001c0002t0001g0114 others(12): Show a0001c0001t0001g0182 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0137 a0001c0002t0003g0007 a0001c0002t0006g0016 a0001c0002t0007g0010 a0001c0002t0010g0125 a0001c0004t0001g0134 a0001c0004t0001g0136 a0001c0005t0001g0267	15	258	0.0581	3	c.831 others(10): Show c.831_833dupTGA	p.Asp others(6): Show p.Asp277dup	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	7/28	923/5547	833/4173	278/1390		chr8	TogoVar
ATAD2_chr8_123314850_123401447	123369918	T T	TTCATCA TTCATCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02071.hp2 HG02145.hp1 HG02280.hp1 others(10): Show HG02071.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02895.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0004t0004 a0001c0004t0013	a0001c0001t0001g0233 a0001c0002t0001g0127 a0001c0002t0001g0130 others(10): Show a0001c0001t0001g0233 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0013g0160	13	256	0.0508	6	c.828 others(13): Show c.828_833dupTGATGA	p.Asp others(13): Show p.Asp276_Asp277dup	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	7/28	923/5547	833/4173	278/1390		chr8	TogoVar
ATAD2_chr8_123314850_123401447	123369942	A A	ATCATCG ATCATCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp1 HG02486.hp2 HG02647.hp2 others(7): Show HG01243.hp1 HG02486.hp2 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0251 a0002c0003t0001g0253 a0002c0003t0001g0254 others(7): Show a0002c0003t0001g0251 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0260 a0002c0003t0001g0261	10	274	0.0365	6	c.809 others(13): Show c.809_810insCGATGA	p.Asp others(13): Show p.Asp269_Asp270dup	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	7/28	899/5547	809/4173	270/1390		chr8	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	ACAG ACAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00544.hp2 HG00642.hp1 others(25): Show HG00099.hp1 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01175.hp2 HG01433.hp2 HG02015.hp1 HG02486.hp2 HG02738.hp1 HG02738.hp2 HG03239.hp1 NA18612.hp2 NA18747.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18965.hp1 NA18969.hp2 NA18977.hp1 NA18993.hp2 NA19007.hp1 NA19062.hp2 NA19063.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0128 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0064 a0001c0002t0001g0122 a0001c0002t0004g0005	28	149	0.1879	3	c.150 others(12): Show c.1506_1508dupGCA	p.Gln others(6): Show p.Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	ACAGCAG ACAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG00597.hp1 HG00609.hp1 others(27): Show HG00423.hp1 HG00597.hp1 HG00609.hp1 HG01099.hp1 HG01255.hp1 HG02027.hp1 HG02071.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02698.hp2 HG03942.hp2 NA18939.hp1 NA18945.hp1 NA18947.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18981.hp2 NA18992.hp2 NA19009.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0001t0003 a0001c0024t0001 a0001c0001t0001 a0001c0001t0003 a0001c0024t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0117 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0023 a0001c0024t0001g0003	30	151	0.1987	6	c.150 others(15): Show c.1503_1508dupGCAGCA	p.Gln others(13): Show p.Gln501_Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	ACAGCAGC others(2): Show ACAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00558.hp1 HG00597.hp2 HG00673.hp1 others(27): Show HG00558.hp1 HG00597.hp2 HG00673.hp1 HG00738.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02523.hp2 HG02615.hp1 HG03471.hp2 HG03490.hp2 HG03834.hp1 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18953.hp1 NA18966.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp2 NA19005.hp2 NA19054.hp2 NA19056.hp2 NA19072.hp2 NA19076.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0005c0011 a0007c0014	a0001c0001t0001 a0001c0001t0003 a0001c0002t0008 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0008 a0001c0005t0001 a0001c0006t0001 a0005c0011t0001 a0007c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0118 a0001c0001t0003g0002 a0001c0002t0008g0004 a0001c0005t0001g0016 a0001c0006t0001g0002 a0001c0006t0001g0036 a0005c0011t0001g0002 a0005c0011t0001g0010 a0007c0014t0001g0124	30	151	0.1987	9	c.150 others(18): Show c.1500_1508dupGCAGCAGCA	p.Gln others(13): Show p.Gln500_Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	ACAGCAGC others(5): Show ACAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp2 HG00544.hp1 HG02132.hp1 others(7): Show HG00438.hp2 HG00544.hp1 HG02132.hp1 HG03453.hp2 HG06807.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp1 NA19005.hp1 NA19090.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0006 a0007c0014 a0001c0001 a0001c0006 a0007c0014	a0001c0001t0001 a0001c0006t0001 a0007c0014t0001 a0001c0001t0001 a0001c0006t0001 a0007c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0006t0001g0002 a0007c0014t0001g0125	10	131	0.0763	12	c.149 others(21): Show c.1497_1508dupGCAGCAGCAGCA	p.Gln others(13): Show p.Gln499_Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	ACAGCAGC others(8): Show ACAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01167.hp2 HG03669.hp2 NA18964.hp1 others(2): Show HG01167.hp2 HG03669.hp2 NA18964.hp1 NA18990.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0061 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0002t0001g0004	5	126	0.0397	15	c.149 others(24): Show c.1494_1508dupGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln498_Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	ACAGCAGC others(11): Show ACAGCAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	122	0.0082	18	c.149 others(27): Show c.1491_1508dupGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln497_Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar

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