Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
RPS4X_chrX_72267042_72282248	72273875	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0040 a0002c0006t0010g0040	1	316	0.0032	1	c.457 others(4): Show c.457dupC	p.Leu others(5): Show p.Leu153fs	RPS4X	ENSG00000198034.11	transcript	ENST00000316084.10	protein_coding	5/7	510/1474	457/792	153/263		chrX	TogoVar
RPS4X_chrX_72267042_72282248	72273930	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0040 a0002c0006t0010g0040	1	316	0.0032	-1	c.402 others(4): Show c.402delA	p.Gly others(5): Show p.Gly135fs	RPS4X	ENSG00000198034.11	transcript	ENST00000316084.10	protein_coding	5/7	455/1474	402/792	134/263		chrX	TogoVar
RXFP2_chr13_31734526_31808389	31786554	T T	TAA TAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00639.hp2 others(99): Show HG00099.hp2 HG00280.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01975.hp1 HG02004.hp1 HG02109.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18950.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18991.hp2 NA18994.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0002c0012 a0003c0005 others(2): Show a0001c0001 a0002c0012 a0003c0005 a0005c0009 a0009c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0012t0002 a0003c0005t0002 a0005c0009t0001 a0009c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0367 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0230 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0002c0012t0002g0124 a0003c0005t0002g0105 a0003c0005t0002g0241 a0003c0005t0002g0242 a0005c0009t0001g0174 a0009c0006t0001g0258	102	386	0.2643	2	c.100 others(15): Show c.1002-3_1002-2dupAA		RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr13	TogoVar
SEPTIN6_chrX_119611945_119698168	119652955	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0079 a0002c0003t0034g0079	1	252	0.0040	1	c.426 others(4): Show c.426dupC	p.Tyr others(5): Show p.Tyr143fs	SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding	4/11	489/4495	426/1284	142/427		chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50634585	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0165 a0012c0017t0001g0165	1	175	0.0057	-1	c.148 others(5): Show c.1487delC	p.Pro others(5): Show p.Pro496fs	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	4/9	1663/14557	1487/4482	496/1493		chrX	TogoVar
SLC22A24_chr11_63074940_63149221	63081015	A A	C C	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0006 a0007 a0008 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0017 a0002c0002 others(14): Show a0001c0001 a0001c0017 a0002c0002 a0002c0008 a0002c0024 a0002c0025 a0004c0004 a0006c0006 a0007c0007 a0007c0018 a0008c0011 a0008c0023 a0010c0010 a0011c0013 a0012c0014 a0014c0016 a0015c0022	a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 others(16): Show a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 a0002c0008t0001 a0002c0024t0001 a0002c0025t0001 a0004c0004t0001 a0006c0006t0001 a0007c0007t0002 a0007c0007t0004 a0007c0018t0002 a0008c0011t0001 a0008c0023t0001 a0010c0010t0001 a0010c0010t0006 a0011c0013t0001 a0012c0014t0001 a0014c0016t0001 a0015c0022t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(263): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0273 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0319 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0017t0001g0089 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0118 a0002c0002t0001g0125 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0147 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0231 a0002c0002t0001g0235 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0270 a0002c0002t0001g0284 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0312 a0002c0002t0001g0337 a0002c0002t0001g0346 a0002c0002t0001g0348 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0008t0001g0262 a0002c0008t0001g0280 a0002c0008t0001g0281 a0002c0008t0001g0282 a0002c0008t0001g0283 a0002c0008t0001g0313 a0002c0008t0001g0314 a0002c0008t0001g0320 a0002c0008t0001g0328 a0002c0024t0001g0139 a0002c0025t0001g0153 a0004c0004t0001g0004 a0004c0004t0001g0095 a0004c0004t0001g0110 a0004c0004t0001g0124 a0004c0004t0001g0140 a0004c0004t0001g0152 a0004c0004t0001g0179 a0004c0004t0001g0227 a0004c0004t0001g0228 a0004c0004t0001g0229 a0004c0004t0001g0230 a0004c0004t0001g0232 a0004c0004t0001g0233 a0004c0004t0001g0234 a0004c0004t0001g0236 a0004c0004t0001g0237 a0004c0004t0001g0238 a0004c0004t0001g0239 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0242 a0004c0004t0001g0243 a0004c0004t0001g0244 a0004c0004t0001g0245 a0004c0004t0001g0246 a0004c0004t0001g0271 a0004c0004t0001g0272 a0004c0004t0001g0306 a0004c0004t0001g0307 a0004c0004t0001g0308 a0004c0004t0001g0309 a0004c0004t0001g0310 a0004c0004t0001g0315 a0006c0006t0001g0269 a0006c0006t0001g0311 a0006c0006t0001g0316 a0006c0006t0001g0317 a0006c0006t0001g0321 a0006c0006t0001g0322 a0006c0006t0001g0323 a0006c0006t0001g0324 a0006c0006t0001g0325 a0006c0006t0001g0326 a0006c0006t0001g0327 a0006c0006t0001g0329 a0006c0006t0001g0330 a0006c0006t0001g0331 a0006c0006t0001g0332 a0006c0006t0001g0333 a0006c0006t0001g0334 a0006c0006t0001g0335 a0006c0006t0001g0336 a0006c0006t0001g0338 a0007c0007t0002g0064 a0007c0007t0002g0065 a0007c0007t0002g0066 a0007c0007t0002g0069 a0007c0007t0002g0073 a0007c0007t0002g0074 a0007c0007t0002g0075 a0007c0007t0002g0076 a0007c0007t0002g0077 a0007c0007t0002g0078 a0007c0007t0002g0079 a0007c0007t0002g0080 a0007c0007t0002g0081 a0007c0007t0002g0082 a0007c0007t0004g0003 a0007c0007t0004g0085 a0007c0018t0002g0023 a0008c0011t0001g0131 a0008c0011t0001g0274 a0008c0011t0001g0275 a0008c0011t0001g0276 a0008c0011t0001g0277 a0008c0011t0001g0279 a0008c0023t0001g0278 a0010c0010t0001g0090 a0010c0010t0001g0091 a0010c0010t0001g0092 a0010c0010t0001g0093 a0010c0010t0001g0094 a0010c0010t0006g0362 a0011c0013t0001g0340 a0011c0013t0001g0341 a0011c0013t0001g0342 a0011c0013t0001g0343 a0012c0014t0001g0087 a0012c0014t0001g0088 a0014c0016t0001g0086 a0015c0022t0001g0318	268	366	0.7322	0	c.150 others(4): Show c.1503T>G	p.Tyr others(4): Show p.Tyr501*	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	9/10	1945/2101	1503/1659	501/552		chr11	TogoVar
SLC30A10_chr1_219905445_219933557	219918481	ATGCAAAA others(58): Show ATGCAAAAGTACACCTGCCAGGAAGAAAGACTACTGCAGCACAGATGCAA ATCTGGAAGCCACGTG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0080 a0003c0003t0011g0080	1	426	0.0024	-65	c.719 others(75): Show c.719-52_731delCACGTGGCTTCCAGATTTGCATCTGTGCTGCAGTA GTCTTTCTTCCTGGCAGGTGTACTTTTGCA	p.Gly others(5): Show p.Gly240fs	SLC30A10	ENSG00000196660.12	transcript	ENST00000366926.4	protein_coding	3/4	848/6579	719/1458	240/485		chr1	TogoVar
SLC35D2_chr9_96315710_96388711	96324089	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	284	0.0035	0	c.831 others(5): Show c.831+2T>A		SLC35D2	ENSG00000130958.13	transcript	ENST00000253270.13	protein_coding	10/11					chr9	TogoVar
SLC7A13_chr8_86209063_86235381	86214405	TCCGACAT others(1): Show TCCGACATC	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00438.hp1 HG00544.hp1 HG01070.hp1 others(92): Show HG00438.hp1 HG00544.hp1 HG01070.hp1 HG01074.hp1 HG01255.hp2 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18988.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1	a0000 a0000	a0000c0002 a0000c0015 a0000c0024 a0000c0002 a0000c0015 a0000c0024	a0000c0002t0002 a0000c0015t0002 a0000c0024t0002 a0000c0002t0002 a0000c0015t0002 a0000c0024t0002	a0000c0002t0002g0002 a0000c0002t0002g0008 a0000c0002t0002g0012 others(18): Show a0000c0002t0002g0002 a0000c0002t0002g0008 a0000c0002t0002g0012 a0000c0002t0002g0024 a0000c0002t0002g0026 a0000c0002t0002g0035 a0000c0002t0002g0036 a0000c0002t0002g0037 a0000c0002t0002g0087 a0000c0002t0002g0088 a0000c0002t0002g0089 a0000c0002t0002g0090 a0000c0002t0002g0091 a0000c0002t0002g0092 a0000c0002t0002g0094 a0000c0002t0002g0095 a0000c0002t0002g0096 a0000c0002t0002g0097 a0000c0002t0002g0117 a0000c0015t0002g0054 a0000c0024t0002g0134	95	428	0.2220	-8	c.141 others(15): Show c.1413_*7delGATGTCGG	p.Ter others(5): Show p.Ter471fs	SLC7A13	ENSG00000164893.9	transcript	ENST00000297524.8	protein_coding	4/4	1524/1867	1413/1413	471/470		chr8	TogoVar
SLC9A7_chrX_46594251_46764118	46607064	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0060 a0005c0008t0060	a0005c0008t0060g0117 a0005c0008t0060g0117	1	250	0.0040	-1	c.206 others(5): Show c.2068delC	p.Arg others(5): Show p.Arg690fs	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	17/17	2157/9971	2068/2181	690/726		chrX	TogoVar
SLC9A7_chrX_46594251_46764118	46607093	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0060 a0005c0008t0060	a0005c0008t0060g0117 a0005c0008t0060g0117	1	250	0.0040	1	c.203 others(5): Show c.2039dupA	p.His others(5): Show p.His680fs	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	17/17	2128/9971	2039/2181	680/726		chrX	TogoVar
SOX8_chr16_976770_991979	985147	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG01261.hp1 HG01891.hp2 others(6): Show HG01099.hp1 HG01261.hp1 HG01891.hp2 HG02056.hp2 HG02080.hp1 HG02148.hp1 HG02698.hp1 NA19075.hp1 NA19075.hp2	a0000 a0002 a0000 a0002	a0000c0010 a0000c0012 a0000c0013 others(3): Show a0000c0010 a0000c0012 a0000c0013 a0002c0018 a0002c0021 a0002c0022	a0000c0010t0004 a0000c0010t0052 a0000c0012t0001 others(5): Show a0000c0010t0004 a0000c0010t0052 a0000c0012t0001 a0000c0013t0002 a0000c0013t0010 a0002c0018t0004 a0002c0021t0001 a0002c0022t0002	a0000c0010t0004g0003 a0000c0010t0052g0002 a0000c0012t0001g0001 others(5): Show a0000c0010t0004g0003 a0000c0010t0052g0002 a0000c0012t0001g0001 a0000c0013t0002g0004 a0000c0013t0010g0002 a0002c0018t0004g0001 a0002c0021t0001g0001 a0002c0022t0002g0002	9	434	0.0207	1	c.110 others(5): Show c.1106dupC	p.Ala others(5): Show p.Ala370fs	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding	3/3	1260/3087	1107/1341	369/446	INFO_REALIGN_3_PRIME	chr16	TogoVar
SOX8_chr16_976770_991979	985156	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01261.hp1 HG02056.hp2 NA18956.hp1 others(6): Show HG01261.hp1 HG02056.hp2 NA18956.hp1 NA18956.hp2 NA18965.hp2 NA18978.hp2 NA18984.hp2 NA19072.hp2 NA19075.hp1	a0000 a0002 a0000 a0002	a0000c0006 a0000c0007 a0002c0018 others(2): Show a0000c0006 a0000c0007 a0002c0018 a0002c0021 a0002c0022	a0000c0006t0001 a0000c0007t0002 a0000c0007t0009 others(3): Show a0000c0006t0001 a0000c0007t0002 a0000c0007t0009 a0002c0018t0004 a0002c0021t0001 a0002c0022t0002	a0000c0006t0001g0001 a0000c0007t0002g0002 a0000c0007t0009g0002 others(3): Show a0000c0006t0001g0001 a0000c0007t0002g0002 a0000c0007t0009g0002 a0002c0018t0004g0001 a0002c0021t0001g0001 a0002c0022t0002g0002	9	434	0.0207	1	c.111 others(5): Show c.1116dupC	p.Ala others(5): Show p.Ala373fs	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding	3/3	1270/3087	1117/1341	373/446	INFO_REALIGN_3_PRIME	chr16	TogoVar
TBC1D25_chrX_48534714_48567609	48560571	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0113 a0003c0005t0001g0113	1	294	0.0034	-1	c.166 others(5): Show c.1666delC	p.His others(5): Show p.His556fs	TBC1D25	ENSG00000068354.16	transcript	ENST00000376771.9	protein_coding	6/6	1750/3785	1666/2067	556/688	INFO_REALIGN_3_PRIME	chrX	TogoVar
TCHHL1_chr1_152079141_152094064	152085716	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp2 HG01167.hp1 HG01169.hp1 others(26): Show HG00642.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02074.hp2 HG02300.hp1 NA18960.hp2 NA18969.hp1 NA18970.hp2 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18997.hp2 NA18999.hp2 NA19006.hp1 NA19012.hp1 NA19058.hp2 NA19062.hp2 NA19066.hp1 NA19075.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	29	376	0.0771	0	c.196 others(4): Show c.1966C>T	p.Gln others(4): Show p.Gln656*	TCHHL1	ENSG00000182898.4	transcript	ENST00000368806.2	protein_coding	3/3	2031/3606	1966/2715	656/904		chr1	TogoVar
TCHH_chr1_152101317_152120444	152111977	TCAGCTGC others(42): Show TCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCG	T T	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01167.hp2 HG01169.hp1 others(12): Show HG00642.hp2 HG01167.hp2 HG01169.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG02074.hp2 HG02293.hp2 HG02300.hp1 NA18960.hp1 NA19066.hp1 NA19075.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	15	402	0.0373	-49	c.119 others(58): Show c.1191_1239delCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCG CGAGCAGCAGCTG	p.Glu others(5): Show p.Glu398fs	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1324/6985	1191/5832	397/1943		chr1	TogoVar
TCHH_chr1_152101317_152120444	152112032	CAG CAG	C C	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00642.hp2 HG01167.hp2 others(16): Show HG00438.hp1 HG00642.hp2 HG01167.hp2 HG01169.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02293.hp2 HG02300.hp1 NA18960.hp1 NA19066.hp1 NA19075.hp1	a0003 a0027 a0003 a0027	a0003c0003 a0027c0024 a0003c0003 a0027c0024	a0003c0003t0001 a0027c0024t0004 a0003c0003t0001 a0027c0024t0004	a0003c0003t0001g0003 a0027c0024t0004g0021 a0003c0003t0001g0003 a0027c0024t0004g0021	19	402	0.0473	-2	c.118 others(11): Show c.1183_1184delCT	p.Leu others(5): Show p.Leu395fs	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1269/6985	1183/5832	395/1943		chr1	TogoVar
TEX26_chr13_30927656_30980500	30956872	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18978.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19058.hp1 NA19064.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(88): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0269 a0001c0001t0001g0279 a0001c0001t0001g0289 a0001c0001t0001g0302 a0001c0001t0001g0343 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0005t0001g0059	102	414	0.2464	0	c.313 others(5): Show c.313-1G>A		TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding	3/6					chr13	TogoVar
TEX44_chr2_231587864_231599276	231593752	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 NA18956.hp1 NA18961.hp2 others(10): Show HG00438.hp1 NA18956.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18971.hp2 NA18983.hp1 NA19000.hp2 NA19007.hp1 NA19068.hp1 NA19075.hp1 NA19085.hp2 NA19089.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	13	438	0.0297	1	c.801 others(8): Show c.801_802insC	p.Glu others(5): Show p.Glu268fs	TEX44	ENSG00000177673.4	transcript	ENST00000313965.4	protein_coding	1/1	890/1413	802/1188	268/395		chr2	TogoVar
TIGD6_chr5_149988118_150005654	149995316	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0009 others(5): Show a0001 a0004 a0009 a0010 a0012 a0013 a0014 a0015	a0001c0001 a0001c0017 a0004c0007 others(6): Show a0001c0001 a0001c0017 a0004c0007 a0009c0011 a0010c0020 a0012c0014 a0013c0015 a0014c0018 a0015c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0017t0001 a0004c0007t0003 a0009c0011t0003 a0010c0020t0003 a0012c0014t0003 a0013c0015t0001 a0014c0018t0009 a0015c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0020 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0002g0018 a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0026 a0001c0001t0003g0064 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0009g0019 a0001c0001t0017g0048 a0001c0017t0001g0049 a0004c0007t0003g0025 a0009c0011t0003g0075 a0009c0011t0003g0078 a0010c0020t0003g0059 a0012c0014t0003g0077 a0013c0015t0001g0045 a0014c0018t0009g0050 a0015c0019t0001g0051	193	436	0.4427	-1	c.103 others(5): Show c.1032delA	p.Glu others(5): Show p.Glu345fs	TIGD6	ENSG00000164296.7	transcript	ENST00000296736.4	protein_coding	2/2	1294/3493	1032/1566	344/521		chr5	TogoVar
TIMM17B_chrX_48888449_48902768	48893780	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0016 a0004c0006t0001g0016	1	301	0.0033	1	c.467 others(4): Show c.467dupC	p.Lys others(5): Show p.Lys157fs	TIMM17B	ENSG00000126768.13	transcript	ENST00000696123.1	protein_coding	6/6	486/818	467/519	156/172		chrX	TogoVar
TINAGL1_chr1_31571515_31592686	31577376	C C	CTGCAACC others(6): Show CTGCAACCGCACGG	frameshift_variant frameshift_variant	HIGH	NA19075.hp2 NA19075.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0284 a0002c0005t0001g0284	1	440	0.0023	13	c.230 others(20): Show c.230_242dupGCAACCGCACGGT	p.Ser others(4): Show p.Ser82fs	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	2/12	339/2207	243/1404	81/467	INFO_REALIGN_3_PRIME	chr1	TogoVar
TLR8_chrX_12901620_12928169	12906707	A A	G G	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0009 a0010	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0015 a0001c0016 a0001c0017 a0001c0024 a0004c0014 a0005c0018 a0009c0023 a0010c0022	a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 others(13): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 a0001c0004t0014 a0001c0007t0002 a0001c0007t0004 a0001c0007t0009 a0001c0011t0003 a0001c0015t0005 a0001c0016t0001 a0001c0017t0001 a0001c0024t0001 a0004c0014t0001 a0005c0018t0007 a0009c0023t0001 a0010c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0008g0001 a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0009 a0001c0004t0001g0065 a0001c0004t0001g0071 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0014g0003 a0001c0007t0002g0013 a0001c0007t0002g0025 a0001c0007t0002g0028 a0001c0007t0004g0010 a0001c0007t0004g0039 a0001c0007t0009g0010 a0001c0011t0003g0019 a0001c0011t0003g0055 a0001c0011t0003g0066 a0001c0015t0005g0037 a0001c0015t0005g0067 a0001c0016t0001g0027 a0001c0017t0001g0001 a0001c0024t0001g0011 a0004c0014t0001g0056 a0004c0014t0001g0057 a0004c0014t0001g0058 a0005c0018t0007g0059 a0005c0018t0007g0073 a0009c0023t0001g0001 a0010c0022t0001g0074	165	303	0.5446	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	TLR8	ENSG00000101916.12	transcript	ENST00000218032.7	protein_coding	1/2	88/4216	1/3126	1/1041		chrX	TogoVar
TMEM200C_chr18_5877072_5900522	5890587	C C	CAAAAAAC others(6): Show CAAAAAACAAAAAA	frameshift_variant frameshift_variant	HIGH	NA19075.hp2 NA19075.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0088 a0009c0018t0088	a0009c0018t0088g0129 a0009c0018t0088g0129	1	438	0.0023	13	c.147 others(22): Show c.1476_1477insTTTTTTGTTTTTT	p.Ala others(5): Show p.Ala493fs	TMEM200C	ENSG00000206432.4	transcript	ENST00000383490.3	protein_coding	2/2	2063/10579	1476/1866	492/621		chr18	TogoVar
TMEM216_chr11_61387587_61403846	61398269	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(173): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0002c0004 a0003c0003 a0004c0007	a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 a0001c0006t0001 a0002c0004t0001 a0003c0003t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0008g0001 a0001c0005t0001g0001 a0001c0006t0001g0001 a0002c0004t0001g0020 a0003c0003t0001g0001 a0004c0007t0001g0001	176	270	0.6519	0	c.432 others(5): Show c.432-1G>C		TMEM216	ENSG00000187049.11	transcript	ENST00000515837.7	protein_coding	4/4					chr11	TogoVar
TMPRSS11A_chr4_67904395_67968493	67963391	C C	T T	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0010	a0002c0002 a0002c0015 a0002c0018 others(7): Show a0002c0002 a0002c0015 a0002c0018 a0003c0005 a0003c0009 a0003c0016 a0003c0017 a0003c0019 a0005c0010 a0010c0020	a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 others(13): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 a0002c0002t0024 a0002c0002t0027 a0002c0015t0002 a0002c0018t0002 a0003c0005t0006 a0003c0005t0007 a0003c0009t0004 a0003c0009t0015 a0003c0016t0006 a0003c0017t0004 a0003c0019t0023 a0005c0010t0002 a0010c0020t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0005 others(79): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0015 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0103 a0002c0002t0002g0106 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0011g0016 a0002c0002t0019g0055 a0002c0002t0024g0089 a0002c0002t0027g0174 a0002c0015t0002g0100 a0002c0018t0002g0109 a0003c0005t0006g0022 a0003c0005t0006g0048 a0003c0005t0006g0062 a0003c0005t0006g0066 a0003c0005t0006g0067 a0003c0005t0006g0072 a0003c0005t0006g0092 a0003c0005t0006g0096 a0003c0005t0006g0107 a0003c0005t0006g0110 a0003c0005t0006g0114 a0003c0005t0007g0014 a0003c0005t0007g0065 a0003c0005t0007g0090 a0003c0005t0007g0102 a0003c0005t0007g0113 a0003c0009t0004g0013 a0003c0009t0004g0056 a0003c0009t0004g0057 a0003c0009t0004g0058 a0003c0009t0004g0104 a0003c0009t0004g0105 a0003c0009t0015g0091 a0003c0016t0006g0101 a0003c0017t0004g0050 a0003c0019t0023g0063 a0005c0010t0002g0017 a0005c0010t0002g0064 a0005c0010t0002g0079 a0005c0010t0002g0082 a0005c0010t0002g0099 a0005c0010t0002g0108 a0010c0020t0002g0085	100	394	0.2538	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	TMPRSS11A	ENSG00000187054.16	transcript	ENST00000508048.6	protein_coding	1/10	103/3304	3/1257	1/418		chr4	TogoVar
TOB1_chr17_50857223_50871354	50863265	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG02055.hp1 HG02145.hp2 NA18906.hp2 others(5): Show HG02055.hp1 HG02145.hp2 NA18906.hp2 NA18967.hp1 NA18989.hp1 NA19002.hp1 NA19075.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0003t0003 a0002c0004t0001 a0002c0003t0002 a0002c0003t0003 a0002c0004t0001	a0002c0003t0002g0020 a0002c0003t0002g0038 a0002c0003t0003g0043 others(2): Show a0002c0003t0002g0020 a0002c0003t0002g0038 a0002c0003t0003g0043 a0002c0004t0001g0026 a0002c0004t0001g0033	8	420	0.0191	1	c.752 others(4): Show c.752dupC	p.Pro others(5): Show p.Pro252fs	TOB1	ENSG00000141232.5	transcript	ENST00000499247.3	protein_coding	2/2	1195/2238	752/1038	251/345		chr17	TogoVar
TSPYL2_chrX_53077367_53093540	53082708	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0043 a0011c0010t0001g0043	1	258	0.0039	1	c.215 others(4): Show c.215dupC	p.Pro others(4): Show p.Pro73fs	TSPYL2	ENSG00000184205.14	transcript	ENST00000375442.8	protein_coding	1/7	348/2815	216/2082	72/693	INFO_REALIGN_3_PRIME	chrX	TogoVar
TUBA3C_chr13_19168772_19186824	19173946	CCTCGCGG others(765): Show CCTCGCGGGCCTCAGAGAACTCCCCCTCCTCCATGCCTTCTCCCACGTAC CAGTGCACAAAGGCCCGCTTGGCATACATGAGATCGAACTTATGGTCCAG GCGAGCCCAGGCCTCCGCGATGGCCGTGGTGTTGCTCAGCATGCACACAG CCCGCTGCACCTTGGCCAGGTCTCCCCCAGGGACCACCGTGGGGGGCTGG TAGTTAATGCCCACCTGCCGGAGAAGAGGAAGAAACAGTCCATGAAGCTT ATATCAAACCTGGAAATGGTGGCTGCTTTTCCTCAAAAAGAAGACACCCT GTAGGTGAACAGGAGAATTCTCAGTTCACCCCACAAATGTCACTAAGCCC TTCTCTGTGCCAGGCAGGGTGACAGTTCCAGACAACATATGTTGCCCAGG CTGGCCTCAAACTCCTGGGCCCAATCGATCCACCCACCCCAGCCTCCCAA AGTGCTAGGATTACAGTCATGAGGCAGCATGCCCAGCATTTTTTTTTTTT TTTAAGAATAAGGTATTTTCTAAAGGATTTTTGTGCCCCTTTCTTGGGTG GTAGAATTCATGTGGAAAAGGTAGGTTGAACTTAGTAATTTTATGGGCAT TTTGGGGAATCTTGTAGGTGGTGTATATATTTTATTTTAACTTGGGCATT ACTATAAACTGCTTCACAACATCATTCGTTCCACTGTCTCATGTAGGGTT TGATTTAAAAAAAGAATGAGTTGTTTGTGATGAAAACAGCAACAGGTGCA GTGGCTCACACCCATTATCCCAG	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG00673.hp2 HG02015.hp1 NA18974.hp1 others(7): Show HG00673.hp2 HG02015.hp1 NA18974.hp1 NA18979.hp1 NA18986.hp1 NA19000.hp2 NA19005.hp1 NA19011.hp1 NA19075.hp2 NA19081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0016 a0002c0003t0001g0126 a0002c0003t0001g0128 others(4): Show a0002c0003t0001g0016 a0002c0003t0001g0126 a0002c0003t0001g0128 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0199	10	448	0.0223	-772	c.105 others(13): Show c.1057-559_1269del	p.Val others(13): Show p.Val353_Asp424del	TUBA3C	ENSG00000198033.13	transcript	ENST00000400113.8	protein_coding	5/5	1346/1521	1057/1353	353/450		chr13	TogoVar
TUBA3E_chr2_130186745_130203439	130197356	ACACACCT others(2467): Show ACACACCTGTAGTACCAGCTACTCGGAAGGCTGAGGCGGGAGGACTGCTG GAAGCCAGGGGTTCAAGGCTGCAGGGAGCCGTGATCTTGCAACTGTGTTC CAGCCTGGGCAACAGAGCATTTATTGAGTGCTGTCTCAAAAAAAAAAAAA AAAGAAAAGAAAAGAAAAAAGAAAAAGAAAGGAAAAAAAGGATAACTGAC AAATCACAGCTATTCAGACTTGGGACTTGGGAATCTGTTATGTTAATGGG CTGCTTTTTTTGTTTGGTTTTTTGAGGCAGGGTCTCTGTGGCCCAGGCTG GAGTGCACTGGCGCCATCACGACTCACTGCAGCCTCAAAGTTCCAGGCTC GGCTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGAACCACAGACTCGC ATCACCATGCCCGGGTAATTTTAGTATTTTTTTGTAGAGACTGGGTTTCG CCATGTTGGTCGGGCTGATCTTGAACTCCAGACATCAGGGGATCCGCCCG CCTCCACCTCCCCAAGGGCTGGGATTCCAGGCGTGAGCCGCCGCGCCTGG CCTAACGGTTGCCTTTAGGTGAACAAGGCAATGTTGCAGCAGCGTCTGAG CCTTAATTCCTCATCTGACCAATGTCCACAGCCCCAACCCCCGTCACCGA AGGCTCCTGCAGCTCCTCAGCTGTTTCCAGTAGCACAAAGACGTGTGAAG CGGGAGCAGCGCCCTCCTGTCTTCAGGAGGCGACGCCACTATTTGCTCTC TGGGGGACGGGATACCGTCAATGGTCCCCGTCCACTAAAGGCCGGCAGCT TCATCTAAAACAAAAGCCGCCGTCCCTGCCCTGGGACCTGCAGATCCAGG AAACGATCCCGTGTCCTCCTGTCCCGCACTAGACCCTGCGTCCTTCTCTG GCCTCCTCTCAGCGCCCAGGCCCGCAACAACGTCCCTCTGTCCACCCGAG GCCAACTTCGTCTGCCTGGGCATCTGCGGGGCGGGAGTGACCCGGGTCTT ACCATGGCGAACTCCGCTGCTTCAGCCCAACGCTACTTCCAGACCTCAAC CGGCTGCCACAGCTGCTGAGCGCCCAACTGCAATGACCTGCCCACGCGCG CCGCACAGGATTGGCCTGCCGGTGCCAGGCCGCCATTGGCTCGGAGTTCC TGGGAGGCAGGCCGAGGGCCGGATCCCAGTTCTGATTGGCCGTTGCTCAA CACGTGTAGTGGGGATGCTCTCTGATTGGATGCAGGATTGGCGGGAAGGC AGCGGGGTCATCAAAGGCTGCGCGGTTGCTGAGGCATTTCCGGGGTGTCT TCCGACCAGGATTGGAACAGCTACTGCGCTGCCTCTGTGGGTCGCGGAAC ATTGCCTTGCTCCCAGTGTGCCACTGCCCCTCCCTGATTGCCCCAGGCCT GCTCCTCTCCCTGCCTAATTCAGATCTTTGCAAACAAGGCCACCTCTGAG AGGCCTTGCCGCCATCTACCCAAGTCACAGCAGCACCGCAATTATCCCCC TCTTCCCTGTTCCCACCCAGCACCCGGGAAGTGGCAGGATTCAATCACTT TTCTGACCCAAAGGGAGAAAACGGGCCGGGCGCGATGGCTAACGCCTGCA ATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAAGAG TTCCCGAGACCAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAA CACAAAAATTACCCTGGCTGGTGGTAGGCACCTGTAATCCCAGCTACACG GGAGGCTGAGGTAGGAGAATCGCTTGAAACTGGGAGGCAGTTGTTGCAGT GAGCCGAGATTGGGCCACAGCACACTCCAGCCTGGGCAACAGAGCCAGAC TCTGTCTCAAAAAAAAAAGGAAGAAAGGAGGCAAAATTAACGTAAGTGGA GAGGTTGGGCCAGGCACACCAGCTCATGCCTGTAATTCCAGTGCTTTGGG AGGCCACGGCAGGAGGATTGCTTCAGGTCAGGAGTTCGAGACCAGCCTGG GCAACGTGGTGAGTCCCACCTTGCCCGTTTCTACAAAAAATAAAATTAGC AAGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATCCCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCA CGCCACTGCACTCAAGCCTGGGTGACAGAGCAAAACTCCATCTTGAAAAA AAAAATAGTTTATTTGGGCCAAGTTTGAGAAGTGCAACCCTGGAGATGCA AGTTGTCTTAAAATATTAGCAGCAGTTATAAGTGGGTTTTTAAAGGAAAA GAAGAGGCAGTTCCTAAGTTGTTTACCAAGAATTTGAAATTAGAGAAGTC TTGCTGTGTTGTCCAGGCTAGTCTTGAACTCCTGACCTGAAGGGATCCTC CTACCTCGGCTGGCCTAGCCTGAGGAATTTATATTAAAATAACGTAAGCT ATTTATTGGGCCAGGCGTGGTGGCT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 others(14): Show a0001c0002 a0001c0005 a0001c0011 a0001c0013 a0001c0015 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042	a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 others(14): Show a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 a0001c0013t0002 a0001c0015t0002 a0001c0031t0002 a0001c0032t0002 a0001c0033t0002 a0001c0034t0002 a0001c0035t0002 a0001c0036t0002 a0001c0037t0002 a0001c0038t0002 a0001c0039t0002 a0001c0040t0002 a0001c0041t0002 a0001c0042t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0033 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0005t0002g0005 a0001c0005t0002g0018 a0001c0005t0002g0034 a0001c0011t0002g0014 a0001c0013t0002g0027 a0001c0013t0002g0041 a0001c0015t0002g0029 a0001c0031t0002g0035 a0001c0032t0002g0036 a0001c0033t0002g0039 a0001c0034t0002g0040 a0001c0035t0002g0042 a0001c0036t0002g0044 a0001c0037t0002g0045 a0001c0038t0002g0047 a0001c0039t0002g0048 a0001c0040t0002g0049 a0001c0041t0002g0050 a0001c0042t0002g0051	177	428	0.4136	-2474	c.-14 others(11): Show c.-1470_4-986del		TUBA3E	ENSG00000152086.9	transcript	ENST00000312988.9	protein_coding	1/5					chr2	TogoVar
USP11_chrX_47228009_47253328	47233051	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0133 a0003c0006t0001g0133	1	282	0.0036	1	c.10d others(3): Show c.10dupG	p.Val others(3): Show p.Val4fs	USP11	ENSG00000102226.10	transcript	ENST00000377107.7	protein_coding	1/21	46/3196	11/2763	4/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
USP11_chrX_47228009_47253328	47233116	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0133 a0003c0006t0001g0133	1	282	0.0036	1	c.74d others(3): Show c.74dupG	p.Glu others(4): Show p.Glu26fs	USP11	ENSG00000102226.10	transcript	ENST00000377107.7	protein_coding	1/21	110/3196	75/2763	25/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
USP17L29_chr4_9348638_9360230	9354574	G G	T T	stop_gained stop_gained	HIGH	HG01346.hp1 HG01928.hp2 HG02056.hp1 others(6): Show HG01346.hp1 HG01928.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02132.hp1 HG03834.hp1 NA18979.hp2 NA19075.hp2	a0005 a0031 a0043 others(3): Show a0005 a0031 a0043 a0044 a0046 a0047	a0005c0014 a0005c0045 a0005c0046 others(5): Show a0005c0014 a0005c0045 a0005c0046 a0031c0050 a0043c0047 a0044c0044 a0046c0018 a0047c0017	a0005c0014t0000 a0005c0045t0000 a0005c0046t0000 others(5): Show a0005c0014t0000 a0005c0045t0000 a0005c0046t0000 a0031c0050t0000 a0043c0047t0000 a0044c0044t0000 a0046c0018t0000 a0047c0017t0000	a0005c0014t0000g0000 a0005c0045t0000g0000 a0005c0046t0000g0000 others(5): Show a0005c0014t0000g0000 a0005c0045t0000g0000 a0005c0046t0000g0000 a0031c0050t0000g0000 a0043c0047t0000g0000 a0044c0044t0000g0000 a0046c0018t0000g0000 a0047c0017t0000g0000	9	146	0.0616	0	c.937 others(3): Show c.937G>T	p.Gly others(4): Show p.Gly313*	USP17L29	ENSG00000231637.3	transcript	ENST00000511681.1	protein_coding	1/1	937/1593	937/1593	313/530		chr4	TogoVar
USP17L30_chr4_9358129_9369721	9364065	G G	T T	stop_gained stop_gained	HIGH	HG00673.hp1 HG01081.hp2 HG01243.hp1 others(27): Show HG00673.hp1 HG01081.hp2 HG01243.hp1 HG01515.hp1 HG01928.hp1 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02523.hp1 HG02738.hp1 HG03491.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 NA18941.hp1 NA18952.hp1 NA18955.hp1 NA18971.hp1 NA18979.hp1 NA19004.hp1 NA19062.hp1 NA19064.hp1 NA19075.hp1	a0004 a0005 a0010 others(1): Show a0004 a0005 a0010 a0018	a0004c0007 a0004c0029 a0004c0031 others(6): Show a0004c0007 a0004c0029 a0004c0031 a0005c0008 a0005c0020 a0005c0030 a0010c0017 a0010c0045 a0018c0019	a0004c0007t0000 a0004c0029t0000 a0004c0031t0000 others(6): Show a0004c0007t0000 a0004c0029t0000 a0004c0031t0000 a0005c0008t0000 a0005c0020t0000 a0005c0030t0000 a0010c0017t0000 a0010c0045t0000 a0018c0019t0000	a0004c0007t0000g0000 a0004c0029t0000g0000 a0004c0031t0000g0000 others(6): Show a0004c0007t0000g0000 a0004c0029t0000g0000 a0004c0031t0000g0000 a0005c0008t0000g0000 a0005c0020t0000g0000 a0005c0030t0000g0000 a0010c0017t0000g0000 a0010c0045t0000g0000 a0018c0019t0000g0000	30	330	0.0909	0	c.937 others(3): Show c.937G>T	p.Gly others(4): Show p.Gly313*	USP17L30	ENSG00000228856.3	transcript	ENST00000504104.1	protein_coding	1/1	937/1593	937/1593	313/530		chr4	TogoVar
VCX3B_chrX_8459830_8471510	8464991	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03927.hp1 HG04115.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0000 a0001 a0003 others(40): Show a0000 a0001 a0003 a0005 a0006 a0007 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0024 a0025 a0027 a0030 a0031 a0032 a0033 a0037 a0038 a0039 a0043 a0044 a0046 a0047 a0049 a0050 a0051 a0054 a0056 a0058 a0061 a0067 a0071 a0072 a0075 a0081	a0000c0083 a0001c0001 a0001c0088 others(48): Show a0000c0083 a0001c0001 a0001c0088 a0003c0003 a0003c0014 a0003c0061 a0005c0005 a0005c0010 a0005c0069 a0005c0089 a0006c0007 a0006c0036 a0007c0006 a0009c0009 a0011c0019 a0012c0012 a0013c0013 a0014c0020 a0014c0081 a0015c0015 a0016c0016 a0017c0017 a0018c0018 a0019c0023 a0021c0021 a0024c0025 a0025c0027 a0027c0030 a0030c0087 a0031c0101 a0032c0035 a0033c0037 a0037c0042 a0038c0049 a0039c0054 a0043c0048 a0044c0047 a0046c0046 a0047c0041 a0049c0039 a0050c0058 a0051c0059 a0054c0066 a0056c0065 a0058c0062 a0061c0073 a0067c0079 a0071c0090 a0072c0084 a0075c0092 a0081c0098	a0000c0083t0031 a0001c0001t0001 a0001c0001t0008 others(61): Show a0000c0083t0031 a0001c0001t0001 a0001c0001t0008 a0001c0001t0019 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0088t0001 a0003c0003t0003 a0003c0014t0003 a0003c0061t0003 a0005c0005t0003 a0005c0005t0006 a0005c0005t0007 a0005c0005t0008 a0005c0010t0003 a0005c0010t0032 a0005c0069t0003 a0005c0089t0027 a0006c0007t0012 a0006c0036t0002 a0007c0006t0003 a0007c0006t0009 a0009c0009t0007 a0009c0009t0024 a0011c0019t0008 a0012c0012t0003 a0013c0013t0003 a0014c0020t0016 a0014c0020t0036 a0014c0081t0001 a0015c0015t0006 a0016c0016t0005 a0017c0017t0003 a0017c0017t0007 a0018c0018t0014 a0019c0023t0006 a0021c0021t0001 a0024c0025t0005 a0025c0027t0005 a0027c0030t0004 a0030c0087t0001 a0031c0101t0003 a0032c0035t0026 a0033c0037t0003 a0037c0042t0003 a0038c0049t0005 a0039c0054t0005 a0043c0048t0003 a0044c0047t0025 a0046c0046t0003 a0047c0041t0023 a0049c0039t0006 a0050c0058t0005 a0051c0059t0005 a0054c0066t0001 a0056c0065t0003 a0058c0062t0003 a0061c0073t0007 a0067c0079t0008 a0071c0090t0001 a0072c0084t0003 a0075c0092t0003 a0081c0098t0001	a0000c0083t0031g0037 a0001c0001t0001g0001 a0001c0001t0001g0014 others(72): Show a0000c0083t0031g0037 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0008g0001 a0001c0001t0019g0042 a0001c0001t0034g0001 a0001c0001t0035g0001 a0001c0001t0037g0001 a0001c0088t0001g0001 a0003c0003t0003g0004 a0003c0003t0003g0011 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0014t0003g0005 a0003c0014t0003g0008 a0003c0061t0003g0004 a0005c0005t0003g0004 a0005c0005t0006g0005 a0005c0005t0007g0016 a0005c0005t0008g0028 a0005c0010t0003g0004 a0005c0010t0003g0041 a0005c0010t0032g0004 a0005c0069t0003g0038 a0005c0089t0027g0039 a0006c0007t0012g0013 a0006c0036t0002g0023 a0007c0006t0003g0005 a0007c0006t0009g0005 a0009c0009t0007g0008 a0009c0009t0024g0008 a0011c0019t0008g0001 a0012c0012t0003g0010 a0013c0013t0003g0004 a0013c0013t0003g0011 a0014c0020t0016g0001 a0014c0020t0036g0001 a0014c0081t0001g0001 a0015c0015t0006g0009 a0016c0016t0005g0005 a0017c0017t0003g0005 a0017c0017t0003g0032 a0017c0017t0007g0008 a0018c0018t0014g0005 a0019c0023t0006g0015 a0021c0021t0001g0001 a0021c0021t0001g0014 a0024c0025t0005g0017 a0025c0027t0005g0005 a0027c0030t0004g0024 a0027c0030t0004g0025 a0030c0087t0001g0001 a0031c0101t0003g0040 a0032c0035t0026g0034 a0033c0037t0003g0016 a0037c0042t0003g0009 a0038c0049t0005g0005 a0039c0054t0005g0005 a0043c0048t0003g0010 a0044c0047t0025g0031 a0046c0046t0003g0009 a0047c0041t0023g0033 a0049c0039t0006g0036 a0050c0058t0005g0005 a0051c0059t0005g0005 a0054c0066t0001g0027 a0056c0065t0003g0004 a0058c0062t0003g0004 a0061c0073t0007g0008 a0067c0079t0008g0001 a0071c0090t0001g0001 a0072c0084t0003g0011 a0075c0092t0003g0030 a0081c0098t0001g0001	137	271	0.5055	0	c.-14 others(6): Show c.-147+1G>A		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	1/2					chrX	TogoVar
VPS26C_chr21_37218422_37272334	37233366	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG01192.hp1 NA19075.hp2 others(2): Show HG00408.hp2 HG01192.hp1 NA19075.hp2 NA19083.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005	a0002c0002t0001g0137 a0002c0002t0001g0146 a0002c0002t0001g0158 others(2): Show a0002c0002t0001g0137 a0002c0002t0001g0146 a0002c0002t0001g0158 a0002c0002t0002g0166 a0002c0002t0005g0322	5	396	0.0126	1	c.427 others(4): Show c.427dupT	p.Ser others(5): Show p.Ser143fs	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	4/8	467/3056	427/894	143/297		chr21	TogoVar
VSIG10L_chr19_51326541_51347139	51332638	T T	TG TG	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(448): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0001 a0000c0002 a0000c0003 others(24): Show a0000c0001 a0000c0002 a0000c0003 a0000c0004 a0000c0005 a0000c0006 a0000c0007 a0000c0008 a0000c0009 a0000c0010 a0000c0011 a0000c0012 a0000c0013 a0000c0014 a0000c0015 a0000c0017 a0000c0018 a0000c0019 a0000c0020 a0000c0021 a0000c0023 a0000c0024 a0000c0025 a0000c0026 a0000c0027 a0000c0028 a0002c0016	a0000c0001t0001 a0000c0001t0002 a0000c0001t0006 others(40): Show a0000c0001t0001 a0000c0001t0002 a0000c0001t0006 a0000c0001t0010 a0000c0001t0016 a0000c0002t0001 a0000c0002t0002 a0000c0002t0011 a0000c0002t0012 a0000c0003t0001 a0000c0003t0002 a0000c0003t0007 a0000c0004t0003 a0000c0004t0013 a0000c0004t0017 a0000c0005t0001 a0000c0005t0008 a0000c0005t0009 a0000c0006t0001 a0000c0006t0003 a0000c0006t0014 a0000c0007t0001 a0000c0008t0004 a0000c0009t0001 a0000c0009t0015 a0000c0010t0005 a0000c0011t0001 a0000c0012t0007 a0000c0013t0002 a0000c0014t0001 a0000c0015t0001 a0000c0017t0001 a0000c0018t0001 a0000c0019t0001 a0000c0020t0003 a0000c0021t0001 a0000c0023t0001 a0000c0024t0001 a0000c0025t0001 a0000c0026t0001 a0000c0027t0003 a0000c0028t0002 a0002c0016t0001	a0000c0001t0001g0004 a0000c0001t0001g0012 a0000c0001t0001g0014 others(104): Show a0000c0001t0001g0004 a0000c0001t0001g0012 a0000c0001t0001g0014 a0000c0001t0001g0019 a0000c0001t0001g0023 a0000c0001t0001g0028 a0000c0001t0001g0081 a0000c0001t0001g0084 a0000c0001t0001g0090 a0000c0001t0001g0091 a0000c0001t0002g0002 a0000c0001t0002g0009 a0000c0001t0002g0020 a0000c0001t0002g0037 a0000c0001t0002g0082 a0000c0001t0002g0088 a0000c0001t0002g0092 a0000c0001t0002g0093 a0000c0001t0002g0095 a0000c0001t0002g0096 a0000c0001t0002g0108 a0000c0001t0006g0022 a0000c0001t0006g0083 a0000c0001t0010g0036 a0000c0001t0016g0089 a0000c0002t0001g0001 a0000c0002t0001g0011 a0000c0002t0001g0017 a0000c0002t0001g0021 a0000c0002t0001g0030 a0000c0002t0001g0048 a0000c0002t0001g0050 a0000c0002t0001g0054 a0000c0002t0001g0058 a0000c0002t0001g0059 a0000c0002t0001g0060 a0000c0002t0001g0062 a0000c0002t0001g0063 a0000c0002t0001g0066 a0000c0002t0001g0067 a0000c0002t0001g0069 a0000c0002t0002g0055 a0000c0002t0011g0056 a0000c0002t0012g0057 a0000c0003t0001g0003 a0000c0003t0001g0006 a0000c0003t0001g0027 a0000c0003t0001g0034 a0000c0003t0001g0072 a0000c0003t0001g0073 a0000c0003t0001g0077 a0000c0003t0001g0078 a0000c0003t0001g0080 a0000c0003t0001g0085 a0000c0003t0001g0086 a0000c0003t0001g0087 a0000c0003t0002g0033 a0000c0003t0007g0079 a0000c0004t0003g0005 a0000c0004t0003g0018 a0000c0004t0003g0049 a0000c0004t0013g0061 a0000c0004t0017g0068 a0000c0005t0001g0013 a0000c0005t0001g0040 a0000c0005t0001g0099 a0000c0005t0001g0100 a0000c0005t0001g0101 a0000c0005t0001g0102 a0000c0005t0001g0104 a0000c0005t0001g0105 a0000c0005t0008g0029 a0000c0005t0009g0039 a0000c0005t0009g0103 a0000c0006t0001g0007 a0000c0006t0001g0032 a0000c0006t0003g0098 a0000c0006t0014g0075 a0000c0007t0001g0008 a0000c0007t0001g0041 a0000c0007t0001g0042 a0000c0007t0001g0043 a0000c0008t0004g0010 a0000c0009t0001g0016 a0000c0009t0001g0024 a0000c0009t0015g0053 a0000c0010t0005g0015 a0000c0010t0005g0046 a0000c0011t0001g0026 a0000c0011t0001g0071 a0000c0012t0007g0025 a0000c0013t0002g0038 a0000c0013t0002g0094 a0000c0014t0001g0031 a0000c0015t0001g0035 a0000c0017t0001g0045 a0000c0018t0001g0047 a0000c0019t0001g0051 a0000c0020t0003g0052 a0000c0021t0001g0064 a0000c0023t0001g0070 a0000c0024t0001g0076 a0000c0025t0001g0074 a0000c0026t0001g0097 a0000c0027t0003g0106 a0000c0028t0002g0107 a0002c0016t0001g0044	451	452	0.9978	1	c.257 others(5): Show c.2576dupC	p.Gln others(5): Show p.Gln860fs	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding	10/10	2591/3689	2576/2604	859/867		chr19	TogoVar
VSIG1_chrX_108040065_108084184	108067099	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0108 a0003c0003t0001g0108	1	281	0.0036	-1	c.379 others(4): Show c.379delC	p.Gln others(5): Show p.Gln127fs	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding	3/7	445/3033	379/1164	127/387	INFO_REALIGN_3_PRIME	chrX	TogoVar
VWDE_chr7_12325885_12408865	12375099	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00423.hp1 HG00558.hp1 others(70): Show HG00099.hp1 HG00423.hp1 HG00558.hp1 HG00673.hp1 HG00741.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG02015.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19054.hp1 NA19057.hp1 NA19059.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19075.hp2 NA19079.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2	a0002 a0008 a0011 others(3): Show a0002 a0008 a0011 a0019 a0026 a0038	a0002c0002 a0002c0043 a0002c0044 others(12): Show a0002c0002 a0002c0043 a0002c0044 a0002c0045 a0002c0046 a0002c0047 a0008c0012 a0008c0028 a0008c0068 a0008c0069 a0011c0010 a0019c0027 a0019c0060 a0026c0035 a0038c0049	a0002c0002t0004 a0002c0043t0005 a0002c0044t0014 others(12): Show a0002c0002t0004 a0002c0043t0005 a0002c0044t0014 a0002c0045t0005 a0002c0046t0004 a0002c0047t0007 a0008c0012t0003 a0008c0028t0002 a0008c0068t0001 a0008c0069t0015 a0011c0010t0007 a0019c0027t0001 a0019c0060t0006 a0026c0035t0001 a0038c0049t0005	a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0003 others(44): Show a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0003 a0002c0002t0004g0008 a0002c0002t0004g0040 a0002c0002t0004g0041 a0002c0002t0004g0251 a0002c0002t0004g0253 a0002c0002t0004g0254 a0002c0002t0004g0255 a0002c0002t0004g0256 a0002c0002t0004g0257 a0002c0002t0004g0258 a0002c0002t0004g0259 a0002c0002t0004g0261 a0002c0002t0004g0262 a0002c0002t0004g0263 a0002c0002t0004g0264 a0002c0002t0004g0268 a0002c0002t0004g0269 a0002c0002t0004g0270 a0002c0002t0004g0272 a0002c0002t0004g0273 a0002c0002t0004g0274 a0002c0043t0005g0260 a0002c0044t0014g0267 a0002c0045t0005g0286 a0002c0046t0004g0271 a0002c0047t0007g0289 a0008c0012t0003g0013 a0008c0012t0003g0014 a0008c0012t0003g0051 a0008c0028t0002g0200 a0008c0028t0002g0238 a0008c0068t0001g0165 a0008c0069t0015g0252 a0011c0010t0007g0042 a0011c0010t0007g0279 a0011c0010t0007g0280 a0011c0010t0007g0287 a0011c0010t0007g0288 a0019c0027t0001g0110 a0019c0027t0001g0164 a0019c0060t0006g0127 a0026c0035t0001g0183 a0026c0035t0001g0184 a0038c0049t0005g0293	73	374	0.1952	0	c.115 others(4): Show c.1153C>T	p.Arg others(4): Show p.Arg385*	VWDE	ENSG00000146530.15	transcript	ENST00000275358.8	protein_coding	8/29	1302/5220	1153/4773	385/1590		chr7	TogoVar
XAGE2_chrX_52364021_52380680	52372574	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0012 a0003c0004t0001g0012	1	253	0.0040	-1	c.219 others(4): Show c.219delA	p.Cys others(4): Show p.Cys74fs	XAGE2	ENSG00000155622.7	transcript	ENST00000286049.3	protein_coding	4/5	421/627	219/336	73/111		chrX	TogoVar
XAGE2_chrX_52364021_52380680	52372622	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0012 a0003c0004t0001g0012	1	253	0.0040	-1	c.270 others(4): Show c.270delG	p.Lys others(4): Show p.Lys91fs	XAGE2	ENSG00000155622.7	transcript	ENST00000286049.3	protein_coding	4/5	472/627	270/336	90/111	INFO_REALIGN_3_PRIME	chrX	TogoVar
XAGE5_chrX_52806287_52823301	52818201	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0005 a0000c0003t0005	a0000c0003t0005g0025 a0000c0003t0005g0025	1	265	0.0038	1	c.317 others(4): Show c.317dupC	p.Gln others(5): Show p.Gln107fs	XAGE5	ENSG00000171405.14	transcript	ENST00000375501.2	protein_coding	6/6	624/721	318/327	106/108	INFO_REALIGN_3_PRIME	chrX	TogoVar
XPNPEP2_chrX_129733979_129774536	129746652	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0003 a0026c0023t0003	a0026c0023t0003g0001 a0026c0023t0003g0001	1	310	0.0032	-1	c.464 others(4): Show c.464delG	p.Gly others(5): Show p.Gly155fs	XPNPEP2	ENSG00000122121.12	transcript	ENST00000371106.4	protein_coding	6/21	699/3311	464/2025	155/674	INFO_REALIGN_3_PRIME	chrX	TogoVar
XPNPEP2_chrX_129733979_129774536	129747679	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0003 a0026c0023t0003	a0026c0023t0003g0001 a0026c0023t0003g0001	1	310	0.0032	-1	c.565 others(4): Show c.565delG	p.Asp others(5): Show p.Asp189fs	XPNPEP2	ENSG00000122121.12	transcript	ENST00000371106.4	protein_coding	7/21	800/3311	565/2025	189/674	INFO_REALIGN_3_PRIME	chrX	TogoVar
XPNPEP2_chrX_129733979_129774536	129754475	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0003 a0026c0023t0003	a0026c0023t0003g0001 a0026c0023t0003g0001	1	310	0.0032	1	c.111 others(5): Show c.1114dupG	p.Asp others(5): Show p.Asp372fs	XPNPEP2	ENSG00000122121.12	transcript	ENST00000371106.4	protein_coding	12/21	1350/3311	1115/2025	372/674	INFO_REALIGN_3_PRIME	chrX	TogoVar
XPNPEP2_chrX_129733979_129774536	129754481	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0003 a0026c0023t0003	a0026c0023t0003g0001 a0026c0023t0003g0001	1	310	0.0032	1	c.111 others(5): Show c.1118dupC	p.Val others(5): Show p.Val374fs	XPNPEP2	ENSG00000122121.12	transcript	ENST00000371106.4	protein_coding	12/21	1354/3311	1119/2025	373/674	INFO_REALIGN_3_PRIME	chrX	TogoVar
XPNPEP2_chrX_129733979_129774536	129760498	CCTCTCCC others(39): Show CCTCTCCCCATCAGGAGGCATACACCCGTGTGCTGATAGGAAATATT	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19075.hp1 NA19075.hp1	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0003 a0026c0023t0003	a0026c0023t0003g0001 a0026c0023t0003g0001	1	310	0.0032	-46	c.142 others(58): Show c.1429-13_1461delCTCTCCCCATCAGGAGGCATACACCCGTGTGCT GATAGGAAATATT	p.Glu others(13): Show p.Glu477_Asp488del	XPNPEP2	ENSG00000122121.12	transcript	ENST00000371106.4	protein_coding	16/21		1429/2025	477/674		chrX	TogoVar
XPNPEP2_chrX_129733979_129774536	129760546	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0003 a0026c0023t0003	a0026c0023t0003g0001 a0026c0023t0003g0001	1	310	0.0032	1	c.146 others(5): Show c.1465dupC	p.Leu others(5): Show p.Leu489fs	XPNPEP2	ENSG00000122121.12	transcript	ENST00000371106.4	protein_coding	16/21	1701/3311	1466/2025	489/674	INFO_REALIGN_3_PRIME	chrX	TogoVar
XPNPEP2_chrX_129733979_129774536	129760583	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19075.hp1 NA19075.hp1	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0003 a0026c0023t0003	a0026c0023t0003g0001 a0026c0023t0003g0001	1	310	0.0032	0	c.149 others(6): Show c.1498+2T>A		XPNPEP2	ENSG00000122121.12	transcript	ENST00000371106.4	protein_coding	16/20					chrX	TogoVar
XPNPEP2_chrX_129733979_129774536	129761211	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0003 a0026c0023t0003	a0026c0023t0003g0001 a0026c0023t0003g0001	1	310	0.0032	1	c.153 others(10): Show c.1538_1539insC	p.Ala others(5): Show p.Ala514fs	XPNPEP2	ENSG00000122121.12	transcript	ENST00000371106.4	protein_coding	17/21	1774/3311	1539/2025	513/674		chrX	TogoVar

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