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 (≤).

Sort By

Select column to sort.

Order by

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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
SLAIN1_chr13_77692687_77769229	77698132	T T	TGG TGG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.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 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.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 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.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 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19087.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	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(279): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 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 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0177 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0003g0010 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0187 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0005g0222 a0001c0001t0006g0082 a0001c0001t0007g0155 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0004t0001g0016 a0002c0002t0001g0157 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0228 a0002c0002t0002g0158 a0003c0006t0001g0052	299	300	0.9967	2	c.220 others(9): Show c.220_221dupGG	p.Leu others(4): Show p.Leu75fs	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/7	449/3009	222/1773	74/590	INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77698141	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.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 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.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 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.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 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19087.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	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(279): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 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 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0177 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0003g0010 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0187 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0005g0222 a0001c0001t0006g0082 a0001c0001t0007g0155 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0004t0001g0016 a0002c0002t0001g0157 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0228 a0002c0002t0002g0158 a0003c0006t0001g0052	299	300	0.9967	1	c.230 others(4): Show c.230dupC	p.Leu others(4): Show p.Leu78fs	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/7	458/3009	231/1773	77/590	INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC11A1_chr2_218377273_218401894	218391401	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01192.hp1 HG01496.hp1 HG01978.hp1 others(8): Show HG01192.hp1 HG01496.hp1 HG01978.hp1 HG02809.hp2 HG03927.hp1 NA18964.hp2 NA18974.hp1 NA19011.hp1 NA19011.hp2 NA19070.hp1 NA19090.hp1	a0003 a0003	a0003c0009 a0003c0013 a0003c0015 others(1): Show a0003c0009 a0003c0013 a0003c0015 a0003c0024	a0003c0009t0001 a0003c0013t0004 a0003c0013t0007 others(2): Show a0003c0009t0001 a0003c0013t0004 a0003c0013t0007 a0003c0015t0002 a0003c0024t0002	a0003c0009t0001g0001 a0003c0009t0001g0012 a0003c0009t0001g0135 others(5): Show a0003c0009t0001g0001 a0003c0009t0001g0012 a0003c0009t0001g0135 a0003c0013t0004g0086 a0003c0013t0007g0002 a0003c0015t0002g0008 a0003c0015t0002g0032 a0003c0024t0002g0003	11	376	0.0293	1	c.107 others(5): Show c.1074dupC	p.Ala others(5): Show p.Ala359fs	SLC11A1	ENSG00000018280.17	transcript	ENST00000233202.11	protein_coding	11/15	1171/3608	1075/1653	359/550	INFO_REALIGN_3_PRIME	chr2	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
SLC22A24_chr11_63074940_63149221	63083303	G G	A A	stop_gained stop_gained	HIGH	HG00423.hp2 HG01074.hp2 HG02074.hp2 others(18): Show HG00423.hp2 HG01074.hp2 HG02074.hp2 HG02080.hp1 NA18941.hp1 NA18943.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA19007.hp1 NA19010.hp1 NA19057.hp1 NA19060.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19085.hp2 NA19087.hp2	a0006 a0015 a0006 a0015	a0006c0006 a0015c0022 a0006c0006 a0015c0022	a0006c0006t0001 a0015c0022t0001 a0006c0006t0001 a0015c0022t0001	a0006c0006t0001g0269 a0006c0006t0001g0311 a0006c0006t0001g0316 others(18): Show a0006c0006t0001g0269 a0006c0006t0001g0311 a0006c0006t0001g0316 a0006c0006t0001g0317 a0006c0006t0001g0321 a0006c0006t0001g0322 a0006c0006t0001g0323 a0006c0006t0001g0324 a0006c0006t0001g0325 a0006c0006t0001g0326 a0006c0006t0001g0327 a0006c0006t0001g0329 a0006c0006t0001g0330 a0006c0006t0001g0331 a0006c0006t0001g0332 a0006c0006t0001g0333 a0006c0006t0001g0334 a0006c0006t0001g0335 a0006c0006t0001g0336 a0006c0006t0001g0338 a0015c0022t0001g0318	21	366	0.0574	0	c.122 others(4): Show c.1225C>T	p.Gln others(4): Show p.Gln409*	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	7/10	1667/2101	1225/1659	409/552		chr11	TogoVar
SLC22A31_chr16_89190761_89205537	89196258	GCCTGGCC others(74): Show GCCTGGCCCAGGAACCCGGCCCCCAGCACCAGGCCCAGCCCGGCCCCCCT GTGGGACAGAGTGTGTTGGGGGCAGCCAGCCT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0006 others(4): Show a0002 a0005 a0006 a0010 a0011 a0013 a0018	a0002c0002 a0002c0004 a0002c0007 others(9): Show a0002c0002 a0002c0004 a0002c0007 a0002c0017 a0002c0021 a0005c0008 a0006c0011 a0006c0023 a0010c0016 a0011c0019 a0013c0020 a0018c0024	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0007t0001 a0002c0017t0001 a0002c0021t0001 a0005c0008t0001 a0006c0011t0001 a0006c0023t0001 a0010c0016t0001 a0011c0019t0001 a0013c0020t0001 a0018c0024t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0022 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0002g0039 a0002c0004t0001g0005 a0002c0004t0001g0012 a0002c0004t0001g0027 a0002c0004t0001g0032 a0002c0004t0001g0066 a0002c0004t0001g0067 a0002c0004t0001g0070 a0002c0004t0001g0072 a0002c0007t0001g0007 a0002c0007t0001g0071 a0002c0017t0001g0069 a0002c0021t0001g0038 a0005c0008t0001g0009 a0005c0008t0001g0019 a0005c0008t0001g0059 a0006c0011t0001g0030 a0006c0011t0001g0063 a0006c0023t0001g0064 a0010c0016t0001g0031 a0011c0019t0001g0073 a0013c0020t0001g0037 a0018c0024t0001g0074	173	428	0.4042	-81	c.103 others(93): Show c.1035-34_1081delAGGCTGGCTGCCCCCAACACACTCTGTCCCACA GGGGGGCCGGGCTGGGCCTGGTGCTGGGGGCCGGGTTCCTGGGCCAGG	p.Arg others(5): Show p.Arg345fs	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding	9/9	1117/1615	1035/1341	345/446		chr16	TogoVar
SLC25A14_chrX_130334919_130378357	130346566	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	291	0.0034	1	c.196 others(4): Show c.196dupA	p.Thr others(4): Show p.Thr66fs	SLC25A14	ENSG00000102078.16	transcript	ENST00000545805.6	protein_coding	4/11	427/1615	197/978	66/325	INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC45A1_chr1_8313114_8349165	8324401	G G	A A	stop_gained stop_gained	HIGH	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0238 a0003c0011t0001g0238	1	388	0.0026	0	c.72G others(2): Show c.72G>A	p.Trp others(3): Show p.Trp24*	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	2/9	169/2496	72/2247	24/748		chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8330930	TCAGCAGG others(7): Show TCAGCAGGTAACAGC	T T	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0238 a0003c0011t0001g0238	1	388	0.0026	-14	c.143 others(25): Show c.1438_1443+8delCAGCAGGTAACAGC	p.Gln others(13): Show p.Gln480_Gln481del	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/9	1535/2496	1438/2247	480/748		chr1	TogoVar
SLC9A6_chrX_135980435_136052269	135998169	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0118 a0002c0003t0001g0118	1	199	0.0050	-1	c.433 others(4): Show c.433delT	p.Tyr others(5): Show p.Tyr145fs	SLC9A6	ENSG00000198689.13	transcript	ENST00000630721.3	protein_coding	4/18	532/4684	433/2040	145/679	INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC9A7_chrX_46594251_46764118	46758707	T T	TGA TGA	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0046 a0007c0013t0046	a0007c0013t0046g0249 a0007c0013t0046g0249	1	250	0.0040	2	c.322 others(9): Show c.322_323insTC	p.Tyr others(5): Show p.Tyr108fs	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/17	411/9971	322/2181	108/726		chrX	TogoVar
SLC9A7_chrX_46594251_46764118	46758893	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0046 a0007c0013t0046	a0007c0013t0046g0249 a0007c0013t0046g0249	1	250	0.0040	1	c.136 others(4): Show c.136dupG	p.Ala others(4): Show p.Ala46fs	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/17	225/9971	136/2181	46/726		chrX	TogoVar
SLFN13_chr17_35430096_35453766	35445639	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00741.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG02027.hp2 HG02071.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02818.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03831.hp2 NA18747.hp1 NA18939.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18966.hp1 NA18974.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18987.hp1 NA18992.hp1 NA19001.hp2 NA19007.hp2 NA19009.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp2 NA19077.hp2 NA19083.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0014 a0002c0023 others(6): Show a0002c0002 a0002c0014 a0002c0023 a0002c0024 a0002c0039 a0002c0040 a0002c0041 a0002c0042 a0002c0043	a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 others(17): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0021 a0002c0002t0051 a0002c0002t0052 a0002c0002t0054 a0002c0002t0057 a0002c0002t0059 a0002c0002t0060 a0002c0014t0002 a0002c0014t0003 a0002c0023t0014 a0002c0024t0001 a0002c0024t0005 a0002c0039t0003 a0002c0040t0003 a0002c0041t0003 a0002c0042t0003 a0002c0043t0003	a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0003g0060 others(25): Show a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0003g0060 a0002c0002t0003g0125 a0002c0002t0003g0184 a0002c0002t0003g0204 a0002c0002t0004g0188 a0002c0002t0011g0016 a0002c0002t0021g0037 a0002c0002t0021g0203 a0002c0002t0051g0202 a0002c0002t0052g0192 a0002c0002t0054g0193 a0002c0002t0057g0189 a0002c0002t0059g0194 a0002c0002t0060g0185 a0002c0014t0002g0195 a0002c0014t0003g0028 a0002c0014t0003g0084 a0002c0014t0003g0169 a0002c0023t0014g0059 a0002c0024t0001g0196 a0002c0024t0005g0190 a0002c0039t0003g0187 a0002c0040t0003g0168 a0002c0041t0003g0191 a0002c0042t0003g0197 a0002c0043t0003g0198	59	456	0.1294	0	c.42C others(2): Show c.42C>A	p.Tyr others(3): Show p.Tyr14*	SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding	3/6	247/8398	42/2694	14/897		chr17	TogoVar
SLFNL1_chr1_41010597_41026725	41017902	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG00673.hp1 HG00673.hp2 others(57): Show HG00544.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01255.hp1 HG01258.hp2 HG01433.hp2 HG01891.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG03098.hp2 HG03471.hp1 HG03654.hp2 HG03669.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18943.hp1 NA18960.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp2 NA18974.hp2 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19011.hp1 NA19059.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp2	a0002 a0005 a0007 others(3): Show a0002 a0005 a0007 a0014 a0015 a0017	a0002c0002 a0002c0022 a0005c0007 others(6): Show a0002c0002 a0002c0022 a0005c0007 a0005c0011 a0005c0019 a0007c0008 a0014c0021 a0015c0020 a0017c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(11): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0022t0003 a0005c0007t0001 a0005c0011t0001 a0005c0011t0004 a0005c0019t0001 a0007c0008t0004 a0007c0008t0006 a0014c0021t0001 a0015c0020t0003 a0017c0015t0007	a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0029 others(24): Show a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0029 a0002c0002t0001g0095 a0002c0002t0001g0104 a0002c0002t0001g0110 a0002c0002t0002g0015 a0002c0002t0002g0027 a0002c0002t0002g0079 a0002c0002t0002g0083 a0002c0002t0003g0021 a0002c0002t0003g0041 a0002c0002t0003g0055 a0002c0002t0005g0047 a0002c0002t0005g0049 a0002c0022t0003g0097 a0005c0007t0001g0011 a0005c0007t0001g0060 a0005c0007t0001g0067 a0005c0011t0001g0065 a0005c0011t0004g0052 a0005c0019t0001g0057 a0007c0008t0004g0024 a0007c0008t0006g0032 a0014c0021t0001g0091 a0015c0020t0003g0100 a0017c0015t0007g0088	60	430	0.1395	1	c.689 others(4): Show c.689dupG	p.Ser others(5): Show p.Ser231fs	SLFNL1	ENSG00000171790.16	transcript	ENST00000302946.13	protein_coding	4/6	917/1961	689/1224	230/407		chr1	TogoVar
SMARCA1_chrX_129441506_129528490	129518383	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0001 a0007c0004t0001	a0007c0004t0001g0112 a0007c0004t0001g0112	1	279	0.0036	-1	c.238 others(4): Show c.238delG	p.Asp others(4): Show p.Asp80fs	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	2/25	358/3989	238/3213	80/1070		chrX	TogoVar
SON_chr21_33538038_33582481	33576378	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.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 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 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.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 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.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 HG03195.hp1 HG03195.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 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.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	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028	a0001c0001 a0001c0002 a0001c0009 others(50): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0001c0034 a0001c0036 a0001c0038 a0001c0045 a0001c0047 a0001c0053 a0002c0003 a0002c0031 a0003c0004 a0003c0049 a0004c0005 a0005c0008 a0005c0015 a0005c0026 a0005c0028 a0005c0035 a0006c0006 a0007c0007 a0008c0013 a0008c0018 a0008c0024 a0009c0017 a0010c0050 a0011c0046 a0012c0044 a0013c0020 a0014c0032 a0015c0033 a0016c0037 a0017c0039 a0018c0040 a0019c0041 a0021c0042 a0022c0029 a0023c0043 a0024c0027 a0025c0048 a0026c0051 a0027c0052 a0028c0054	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0019t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0001c0034t0001 a0001c0036t0001 a0001c0038t0001 a0001c0045t0005 a0001c0047t0001 a0001c0053t0001 a0002c0003t0001 a0002c0031t0001 a0003c0004t0001 a0003c0004t0002 a0003c0049t0002 a0004c0005t0001 a0005c0008t0001 a0005c0015t0001 a0005c0026t0001 a0005c0028t0001 a0005c0035t0001 a0006c0006t0001 a0007c0007t0001 a0008c0013t0001 a0008c0018t0001 a0008c0024t0001 a0009c0017t0001 a0010c0050t0006 a0011c0046t0001 a0012c0044t0001 a0013c0020t0001 a0014c0032t0001 a0015c0033t0001 a0016c0037t0001 a0017c0039t0001 a0018c0040t0001 a0019c0041t0001 a0021c0042t0001 a0022c0029t0001 a0023c0043t0001 a0024c0027t0001 a0025c0048t0001 a0026c0051t0001 a0027c0052t0001 a0028c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(246): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0003g0003 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0009t0001g0027 a0001c0009t0001g0212 a0001c0010t0001g0034 a0001c0010t0001g0108 a0001c0011t0001g0005 a0001c0011t0001g0035 a0001c0012t0001g0082 a0001c0012t0001g0097 a0001c0014t0001g0001 a0001c0016t0001g0123 a0001c0016t0001g0124 a0001c0019t0001g0002 a0001c0021t0001g0010 a0001c0022t0001g0007 a0001c0023t0001g0012 a0001c0025t0001g0149 a0001c0034t0001g0027 a0001c0036t0001g0117 a0001c0038t0001g0122 a0001c0045t0005g0153 a0001c0047t0001g0007 a0001c0053t0001g0057 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0017 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0202 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0218 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0031t0001g0047 a0003c0004t0001g0009 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0170 a0003c0004t0001g0193 a0003c0004t0001g0195 a0003c0004t0001g0196 a0003c0004t0001g0197 a0003c0004t0001g0203 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0207 a0003c0004t0001g0210 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0002g0194 a0003c0004t0002g0198 a0003c0004t0002g0200 a0003c0004t0002g0211 a0003c0049t0002g0201 a0004c0005t0001g0015 a0004c0005t0001g0038 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0113 a0004c0005t0001g0125 a0005c0008t0001g0030 a0005c0008t0001g0089 a0005c0008t0001g0164 a0005c0008t0001g0168 a0005c0008t0001g0222 a0005c0015t0001g0111 a0005c0015t0001g0157 a0005c0026t0001g0002 a0005c0028t0001g0019 a0005c0035t0001g0011 a0006c0006t0001g0008 a0006c0006t0001g0171 a0006c0006t0001g0181 a0006c0006t0001g0221 a0007c0007t0001g0048 a0007c0007t0001g0064 a0007c0007t0001g0179 a0007c0007t0001g0180 a0008c0013t0001g0056 a0008c0013t0001g0079 a0008c0018t0001g0002 a0008c0024t0001g0002 a0009c0017t0001g0040 a0010c0050t0006g0107 a0011c0046t0001g0190 a0012c0044t0001g0209 a0013c0020t0001g0178 a0014c0032t0001g0009 a0015c0033t0001g0026 a0016c0037t0001g0199 a0017c0039t0001g0053 a0018c0040t0001g0208 a0019c0041t0001g0115 a0021c0042t0001g0167 a0022c0029t0001g0054 a0023c0043t0001g0033 a0024c0027t0001g0005 a0025c0048t0001g0030 a0026c0051t0001g0067 a0027c0052t0001g0069 a0028c0054t0001g0028	363	364	0.9973	1	c.723 others(5): Show c.7236dupA	p.Ala others(6): Show p.Ala2413fs	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	12/12	7292/8393	7237/7281	2413/2426	INFO_REALIGN_3_PRIME	chr21	TogoVar
SON_chr21_33538038_33582481	33576390	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.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 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 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.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 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.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 HG03195.hp1 HG03195.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 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.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	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028	a0001c0001 a0001c0002 a0001c0009 others(50): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0001c0034 a0001c0036 a0001c0038 a0001c0045 a0001c0047 a0001c0053 a0002c0003 a0002c0031 a0003c0004 a0003c0049 a0004c0005 a0005c0008 a0005c0015 a0005c0026 a0005c0028 a0005c0035 a0006c0006 a0007c0007 a0008c0013 a0008c0018 a0008c0024 a0009c0017 a0010c0050 a0011c0046 a0012c0044 a0013c0020 a0014c0032 a0015c0033 a0016c0037 a0017c0039 a0018c0040 a0019c0041 a0021c0042 a0022c0029 a0023c0043 a0024c0027 a0025c0048 a0026c0051 a0027c0052 a0028c0054	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0019t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0001c0034t0001 a0001c0036t0001 a0001c0038t0001 a0001c0045t0005 a0001c0047t0001 a0001c0053t0001 a0002c0003t0001 a0002c0031t0001 a0003c0004t0001 a0003c0004t0002 a0003c0049t0002 a0004c0005t0001 a0005c0008t0001 a0005c0015t0001 a0005c0026t0001 a0005c0028t0001 a0005c0035t0001 a0006c0006t0001 a0007c0007t0001 a0008c0013t0001 a0008c0018t0001 a0008c0024t0001 a0009c0017t0001 a0010c0050t0006 a0011c0046t0001 a0012c0044t0001 a0013c0020t0001 a0014c0032t0001 a0015c0033t0001 a0016c0037t0001 a0017c0039t0001 a0018c0040t0001 a0019c0041t0001 a0021c0042t0001 a0022c0029t0001 a0023c0043t0001 a0024c0027t0001 a0025c0048t0001 a0026c0051t0001 a0027c0052t0001 a0028c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(246): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0003g0003 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0009t0001g0027 a0001c0009t0001g0212 a0001c0010t0001g0034 a0001c0010t0001g0108 a0001c0011t0001g0005 a0001c0011t0001g0035 a0001c0012t0001g0082 a0001c0012t0001g0097 a0001c0014t0001g0001 a0001c0016t0001g0123 a0001c0016t0001g0124 a0001c0019t0001g0002 a0001c0021t0001g0010 a0001c0022t0001g0007 a0001c0023t0001g0012 a0001c0025t0001g0149 a0001c0034t0001g0027 a0001c0036t0001g0117 a0001c0038t0001g0122 a0001c0045t0005g0153 a0001c0047t0001g0007 a0001c0053t0001g0057 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0017 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0202 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0218 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0031t0001g0047 a0003c0004t0001g0009 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0170 a0003c0004t0001g0193 a0003c0004t0001g0195 a0003c0004t0001g0196 a0003c0004t0001g0197 a0003c0004t0001g0203 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0207 a0003c0004t0001g0210 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0002g0194 a0003c0004t0002g0198 a0003c0004t0002g0200 a0003c0004t0002g0211 a0003c0049t0002g0201 a0004c0005t0001g0015 a0004c0005t0001g0038 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0113 a0004c0005t0001g0125 a0005c0008t0001g0030 a0005c0008t0001g0089 a0005c0008t0001g0164 a0005c0008t0001g0168 a0005c0008t0001g0222 a0005c0015t0001g0111 a0005c0015t0001g0157 a0005c0026t0001g0002 a0005c0028t0001g0019 a0005c0035t0001g0011 a0006c0006t0001g0008 a0006c0006t0001g0171 a0006c0006t0001g0181 a0006c0006t0001g0221 a0007c0007t0001g0048 a0007c0007t0001g0064 a0007c0007t0001g0179 a0007c0007t0001g0180 a0008c0013t0001g0056 a0008c0013t0001g0079 a0008c0018t0001g0002 a0008c0024t0001g0002 a0009c0017t0001g0040 a0010c0050t0006g0107 a0011c0046t0001g0190 a0012c0044t0001g0209 a0013c0020t0001g0178 a0014c0032t0001g0009 a0015c0033t0001g0026 a0016c0037t0001g0199 a0017c0039t0001g0053 a0018c0040t0001g0208 a0019c0041t0001g0115 a0021c0042t0001g0167 a0022c0029t0001g0054 a0023c0043t0001g0033 a0024c0027t0001g0005 a0025c0048t0001g0030 a0026c0051t0001g0067 a0027c0052t0001g0069 a0028c0054t0001g0028	363	364	0.9973	-1	c.724 others(5): Show c.7248delA	p.Arg others(6): Show p.Arg2416fs	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	12/12	7303/8393	7248/7281	2416/2426		chr21	TogoVar
SPIN3_chrX_56985831_57000541	56994307	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0010 a0002c0003t0009g0010	1	318	0.0031	1	c.640 others(4): Show c.640dupG	p.Val others(5): Show p.Val214fs	SPIN3	ENSG00000204271.13	transcript	ENST00000374919.6	protein_coding	2/2	968/4445	640/777	214/258		chrX	TogoVar
SPIN3_chrX_56985831_57000541	56994618	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0010 a0002c0003t0009g0010	1	318	0.0031	1	c.329 others(8): Show c.329_330insC	p.Pro others(5): Show p.Pro111fs	SPIN3	ENSG00000204271.13	transcript	ENST00000374919.6	protein_coding	2/2	657/4445	329/777	110/258		chrX	TogoVar
SPIN3_chrX_56985831_57000541	56995214	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0010 a0002c0003t0009g0010	1	318	0.0031	1	c.-3+ others(5): Show c.-3+1dupG		SPIN3	ENSG00000204271.13	transcript	ENST00000374919.6	protein_coding	1/1					chrX	TogoVar
SURF2_chr9_133351550_133366158	133357790	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG01106.hp2 HG01496.hp1 others(12): Show HG00741.hp1 HG01106.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG02027.hp2 HG02109.hp2 NA18950.hp1 NA18968.hp1 NA18974.hp1 NA18977.hp1 NA18997.hp2 NA19002.hp2 NA19043.hp2 NA19079.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0003c0008 a0007c0014 a0003c0003 a0003c0008 a0007c0014	a0003c0003t0001 a0003c0008t0001 a0007c0014t0001 a0003c0003t0001 a0003c0008t0001 a0007c0014t0001	a0003c0003t0001g0001 a0003c0003t0001g0004 a0003c0003t0001g0043 others(2): Show a0003c0003t0001g0001 a0003c0003t0001g0004 a0003c0003t0001g0043 a0003c0008t0001g0002 a0007c0014t0001g0008	15	448	0.0335	1	c.315 others(4): Show c.315dupG	p.Tyr others(5): Show p.Tyr106fs	SURF2	ENSG00000148291.10	transcript	ENST00000371964.5	protein_coding	3/6	359/833	316/771	106/256	INFO_REALIGN_3_PRIME	chr9	TogoVar
SYAP1_chrX_16714612_16770340	16741736	G G	GT GT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0035 a0003c0004t0035	a0003c0004t0035g0254 a0003c0004t0035g0254	1	290	0.0035	1	c.384 others(4): Show c.384dupT	p.Asp others(5): Show p.Asp129fs	SYAP1	ENSG00000169895.6	transcript	ENST00000380155.4	protein_coding	4/9	498/6153	385/1059	129/352	INFO_REALIGN_3_PRIME	chrX	TogoVar
SYN1_chrX_47566901_47624857	47574695	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA19030.hp1 NA18974.hp1 NA19030.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0060 a0003c0005t0001g0202 a0003c0005t0001g0060 a0003c0005t0001g0202	2	282	0.0071	1	c.138 others(5): Show c.1385dupC	p.Pro others(5): Show p.Pro463fs	SYN1	ENSG00000008056.14	transcript	ENST00000295987.13	protein_coding	11/13	1514/3210	1385/2118	462/705		chrX	TogoVar
TAAR2_chr6_132612150_132629275	132617703	C C	T T	stop_gained stop_gained	HIGH	HG00408.hp2 HG00544.hp2 HG00558.hp1 others(24): Show HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02572.hp1 HG04199.hp2 NA18941.hp2 NA18944.hp2 NA18956.hp1 NA18962.hp2 NA18963.hp2 NA18974.hp1 NA18990.hp2 NA18992.hp1 NA19000.hp2 NA19003.hp1 NA19009.hp2 NA19055.hp1 NA19057.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0008 a0002c0003 a0002c0008	a0002c0003t0000 a0002c0008t0000 a0002c0003t0000 a0002c0008t0000	a0002c0003t0000g0004 a0002c0003t0000g0029 a0002c0003t0000g0056 others(9): Show a0002c0003t0000g0004 a0002c0003t0000g0029 a0002c0003t0000g0056 a0002c0003t0000g0060 a0002c0003t0000g0085 a0002c0003t0000g0101 a0002c0003t0000g0103 a0002c0003t0000g0145 a0002c0003t0000g0146 a0002c0003t0000g0151 a0002c0003t0000g0157 a0002c0008t0000g0149	27	452	0.0597	0	c.503 others(3): Show c.503G>A	p.Trp others(4): Show p.Trp168*	TAAR2	ENSG00000146378.6	transcript	ENST00000367931.1	protein_coding	2/2	503/1056	503/1056	168/351		chr6	TogoVar
TAP2_chr6_32820415_32843739	32828908	A A	G G	stop_lost stop_lost	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0000 a0000	a0000c0002 a0000c0006 a0000c0008 others(19): Show a0000c0002 a0000c0006 a0000c0008 a0000c0011 a0000c0013 a0000c0014 a0000c0016 a0000c0019 a0000c0021 a0000c0024 a0000c0025 a0000c0026 a0000c0029 a0000c0030 a0000c0031 a0000c0033 a0000c0034 a0000c0036 a0000c0037 a0000c0039 a0000c0042 a0000c0045	a0000c0002t0001 a0000c0002t0003 a0000c0002t0025 others(28): Show a0000c0002t0001 a0000c0002t0003 a0000c0002t0025 a0000c0002t0041 a0000c0002t0042 a0000c0006t0001 a0000c0006t0003 a0000c0006t0024 a0000c0006t0033 a0000c0006t0044 a0000c0008t0001 a0000c0008t0003 a0000c0011t0001 a0000c0013t0018 a0000c0014t0003 a0000c0016t0001 a0000c0019t0003 a0000c0021t0001 a0000c0024t0001 a0000c0025t0006 a0000c0026t0003 a0000c0029t0001 a0000c0030t0003 a0000c0031t0003 a0000c0033t0001 a0000c0034t0001 a0000c0036t0001 a0000c0037t0003 a0000c0039t0034 a0000c0042t0043 a0000c0045t0025	a0000c0002t0001g0001 a0000c0002t0001g0037 a0000c0002t0001g0040 others(70): Show a0000c0002t0001g0001 a0000c0002t0001g0037 a0000c0002t0001g0040 a0000c0002t0001g0042 a0000c0002t0001g0060 a0000c0002t0001g0152 a0000c0002t0001g0154 a0000c0002t0001g0160 a0000c0002t0001g0161 a0000c0002t0001g0163 a0000c0002t0001g0164 a0000c0002t0001g0196 a0000c0002t0001g0202 a0000c0002t0001g0204 a0000c0002t0001g0221 a0000c0002t0003g0016 a0000c0002t0003g0052 a0000c0002t0003g0084 a0000c0002t0003g0085 a0000c0002t0003g0113 a0000c0002t0003g0114 a0000c0002t0003g0126 a0000c0002t0003g0136 a0000c0002t0003g0140 a0000c0002t0025g0194 a0000c0002t0041g0165 a0000c0002t0042g0166 a0000c0006t0001g0063 a0000c0006t0001g0150 a0000c0006t0001g0162 a0000c0006t0001g0172 a0000c0006t0003g0008 a0000c0006t0003g0011 a0000c0006t0003g0074 a0000c0006t0003g0077 a0000c0006t0003g0079 a0000c0006t0003g0080 a0000c0006t0003g0093 a0000c0006t0003g0108 a0000c0006t0003g0118 a0000c0006t0003g0128 a0000c0006t0003g0130 a0000c0006t0003g0131 a0000c0006t0003g0142 a0000c0006t0024g0051 a0000c0006t0033g0141 a0000c0006t0044g0157 a0000c0008t0001g0004 a0000c0008t0003g0034 a0000c0011t0001g0009 a0000c0011t0001g0200 a0000c0013t0018g0022 a0000c0014t0003g0056 a0000c0014t0003g0086 a0000c0014t0003g0111 a0000c0016t0001g0028 a0000c0019t0003g0087 a0000c0019t0003g0088 a0000c0019t0003g0109 a0000c0021t0001g0038 a0000c0024t0001g0067 a0000c0025t0006g0046 a0000c0026t0003g0071 a0000c0029t0001g0159 a0000c0030t0003g0143 a0000c0031t0003g0123 a0000c0033t0001g0207 a0000c0034t0001g0197 a0000c0036t0001g0193 a0000c0037t0003g0106 a0000c0039t0034g0139 a0000c0042t0043g0155 a0000c0045t0025g0219	159	485	0.3278	0	c.205 others(4): Show c.2059T>C	p.Ter others(11): Show p.Ter687Glnext*?	TAP2	ENSG00000204267.19	transcript	ENST00000374897.4	protein_coding	12/12	2150/5643	2059/2061	687/686		chr6	TogoVar
TCP11X2_chrX_102455315_102476812	102460565	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0069 a0007c0009t0002g0069	1	137	0.0073	1	c.145 others(10): Show c.1456_1457insG	p.Lys others(5): Show p.Lys486fs	TCP11X2	ENSG00000215029.12	transcript	ENST00000642911.3	protein_coding	10/10	1507/1758	1456/1509	486/502		chrX	TogoVar
TCP11X2_chrX_102455315_102476812	102460651	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0069 a0007c0009t0002g0069	1	137	0.0073	1	c.137 others(5): Show c.1370dupA	p.Glu others(5): Show p.Glu458fs	TCP11X2	ENSG00000215029.12	transcript	ENST00000642911.3	protein_coding	10/10	1421/1758	1370/1509	457/502		chrX	TogoVar
TCP11X2_chrX_102455315_102476812	102462866	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0069 a0007c0009t0002g0069	1	137	0.0073	-1	c.109 others(5): Show c.1090delC	p.Leu others(5): Show p.Leu364fs	TCP11X2	ENSG00000215029.12	transcript	ENST00000642911.3	protein_coding	8/10	1141/1758	1090/1509	364/502		chrX	TogoVar
TCP11X2_chrX_102455315_102476812	102463199	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0069 a0007c0009t0002g0069	1	137	0.0073	-1	c.855 others(4): Show c.855delC	p.Ser others(5): Show p.Ser286fs	TCP11X2	ENSG00000215029.12	transcript	ENST00000642911.3	protein_coding	7/10	906/1758	855/1509	285/502		chrX	TogoVar
TCP11X2_chrX_102455315_102476812	102463654	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0069 a0007c0009t0002g0069	1	137	0.0073	-1	c.646 others(4): Show c.646delC	p.Leu others(5): Show p.Leu216fs	TCP11X2	ENSG00000215029.12	transcript	ENST00000642911.3	protein_coding	6/10	697/1758	646/1509	216/502		chrX	TogoVar
TDRD12_chr19_32714767_32834580	32826678	AAC AAC	A A	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00558.hp1 others(112): Show HG00099.hp2 HG00140.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01358.hp1 HG01361.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1	a0002 a0003 a0005 others(6): Show a0002 a0003 a0005 a0006 a0009 a0021 a0022 a0025 a0026	a0002c0003 a0002c0010 a0003c0002 others(7): Show a0002c0003 a0002c0010 a0003c0002 a0005c0005 a0006c0006 a0009c0009 a0021c0022 a0022c0024 a0025c0030 a0026c0020	a0002c0003t0001 a0002c0003t0011 a0002c0003t0033 others(20): Show a0002c0003t0001 a0002c0003t0011 a0002c0003t0033 a0002c0003t0034 a0002c0003t0035 a0002c0003t0036 a0002c0003t0037 a0002c0003t0040 a0002c0003t0041 a0002c0010t0001 a0002c0010t0039 a0003c0002t0002 a0005c0005t0006 a0005c0005t0014 a0005c0005t0027 a0006c0006t0006 a0006c0006t0014 a0006c0006t0028 a0009c0009t0001 a0021c0022t0001 a0022c0024t0001 a0025c0030t0001 a0026c0020t0001	a0002c0003t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0174 others(110): Show a0002c0003t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0174 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0199 a0002c0003t0001g0200 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0207 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0215 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0235 a0002c0003t0001g0237 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0251 a0002c0003t0001g0253 a0002c0003t0001g0256 a0002c0003t0001g0257 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0271 a0002c0003t0001g0272 a0002c0003t0001g0275 a0002c0003t0001g0276 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0288 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0295 a0002c0003t0001g0377 a0002c0003t0011g0015 a0002c0003t0011g0096 a0002c0003t0011g0189 a0002c0003t0011g0195 a0002c0003t0011g0236 a0002c0003t0011g0273 a0002c0003t0033g0202 a0002c0003t0034g0214 a0002c0003t0035g0238 a0002c0003t0036g0198 a0002c0003t0037g0206 a0002c0003t0040g0225 a0002c0003t0041g0233 a0002c0010t0001g0217 a0002c0010t0001g0250 a0002c0010t0001g0254 a0002c0010t0039g0255 a0003c0002t0002g0084 a0005c0005t0006g0105 a0005c0005t0006g0107 a0005c0005t0006g0109 a0005c0005t0006g0110 a0005c0005t0006g0113 a0005c0005t0006g0114 a0005c0005t0006g0115 a0005c0005t0006g0289 a0005c0005t0014g0108 a0005c0005t0014g0261 a0005c0005t0027g0116 a0006c0006t0006g0106 a0006c0006t0006g0112 a0006c0006t0006g0234 a0006c0006t0006g0241 a0006c0006t0014g0111 a0006c0006t0014g0258 a0006c0006t0028g0260 a0009c0009t0001g0223 a0009c0009t0001g0224 a0009c0009t0001g0242 a0009c0009t0001g0274 a0021c0022t0001g0246 a0022c0024t0001g0252 a0025c0030t0001g0216 a0026c0020t0001g0262	115	380	0.3026	-2	c.382 others(15): Show c.3823-3_3823-2delCA		TDRD12	ENSG00000173809.18	transcript	ENST00000639142.2	protein_coding	31/32				INFO_REALIGN_3_PRIME	chr19	TogoVar
TMLHE_chrX_155484011_155617952	155492358	C C	CT CT	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0052 a0003c0005t0052	a0003c0005t0052g0200 a0003c0005t0052g0200	1	216	0.0046	1	c.113 others(5): Show c.1132dupA	p.Arg others(5): Show p.Arg378fs	TMLHE	ENSG00000185973.12	transcript	ENST00000334398.8	protein_coding	7/8	1294/3952	1132/1266	378/421		chrX	TogoVar
TMLHE_chrX_155484011_155617952	155492412	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0052 a0003c0005t0052	a0003c0005t0052g0200 a0003c0005t0052g0200	1	216	0.0046	1	c.107 others(5): Show c.1078dupA	p.Thr others(5): Show p.Thr360fs	TMLHE	ENSG00000185973.12	transcript	ENST00000334398.8	protein_coding	7/8	1240/3952	1078/1266	360/421		chrX	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
TNK1_chr17_7376089_7394742	7387376	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(53): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01255.hp1 HG01258.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02273.hp2 HG02293.hp2 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp1 NA18987.hp1 NA18990.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19059.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19072.hp2 NA19078.hp1 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA20805.hp1	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0012 a0013 a0016	a0001c0001 a0001c0002 a0001c0031 others(5): Show a0001c0001 a0001c0002 a0001c0031 a0003c0007 a0009c0016 a0012c0024 a0013c0026 a0016c0028	a0001c0001t0001 a0001c0002t0001 a0001c0031t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0031t0001 a0003c0007t0001 a0009c0016t0001 a0012c0024t0001 a0013c0026t0001 a0016c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0048 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0002t0001g0057 a0001c0031t0001g0001 a0003c0007t0001g0001 a0003c0007t0001g0129 a0009c0016t0001g0001 a0009c0016t0001g0048 a0012c0024t0001g0001 a0013c0026t0001g0125 a0016c0028t0001g0043	56	452	0.1239	0	c.139 others(6): Show c.1398-2A>G		TNK1	ENSG00000174292.13	transcript	ENST00000688331.1	protein_coding	9/12					chr17	TogoVar
TRIM48_chr11_55257155_55276114	55264123	AATTACAC others(6934): Show AATTACACCTCTTTAAGTTTAACAAAAATCCTACTATATGTTAGTTCAGA GTTTGGGTATCCCTAGGAGAAGTTAATTCAATCCAAGAGAAAATAAAAAG GTCCGATATCTTTAATGATTTTTTCTCTTCTATTCAACCTAAATTGGTTT AATTGCTGTTTTTTATTTGTTTATTTGGTTGGTTGATTGGTTTTTCTATT TCGCTTTGGATTTGGTTTTTTATTTTACTTTAATTTTATATTATTTTCAG TCCTGAGATAAACGTGCAGGACATGCAGGCTTGTTACACAGGTAAACATG TGCCATGGTGGTTTGCTGCCCCACTGTTGTGTCTCTCTCTCAAAATATAT CATAGGACCCTCTAGCCATCTTCTCGTATTTCTTTGGCCAAGACAGTTTT TCCCACTCTTTCACACTCATTCGGCAGTCATATGAAAGAAGAATAGGAAC AACTACAATTTATTCTAGGCTACTTAGAATCAAACCCAATTTCCAGATCC ACATTCAGAAAAAAATGGGAAATTGAATAGATTAGTATTATGTTACAGAC AGGCACTAGGAGTAGAAGGGGTTGTGAGGCATCTAGTCAGTAATATCTAT TATAAAGCCGGGAGACTCTCTGTGTGAGATTTTTATTTTTGTTACAGAAG AAATAGTTTGTTGTGCTTTAATGAACACTGTCAAGAGAAGAAACTATAGC TATCACTTATCTCCACATGTTCAGAAGCTTTTCATCAACCCAGACCCCAA AATGACATGCTGCTCTTTCTTCCTCAGAAACATGAATTCTGGAATCTCGC AAGTCTTCCAGAGGGAACTCACCTGCCCCATCTGCATGAACTACTTCATA GACCCGGTCACCATAGACTGTGGGCACAGCTTTTGCAGGCCCTGTTTCTA CCTCAACTGGCAAGACATCCCAATTCTTACTCAGTGCTTTGAATGCATAA AGACAATACAGCAGAGAAACCTCAAAACTAACATTCGATTGAAGAAGATG GCTTCCCTTGCCAGAAAAGCCAGTCTCTGGCTATTCCTGAGCTCTGAGGA GCAAATGTGTGGCATTCACAGGGAGACAAAGAAGATGTTCTGTGAAGTGG ACAGGAGCCTGCTCTGTTTGCTGTGCTCCAGCTCTCAGGAGCACCGGTAT CACAGACACTGTCCCGCTGAGTGGGCTGCTGAGGAACACTGGGTAAGTGA TGCCTCTGAAGATCTATTTCTATAAAGGACACATGAAATTCCTGTGGCCC TATTTTCTTGGAGATTGGGTAAAGCCAACTCTGAGTCCCTTTAAGCAACT CTCTTTTGGGCTTTCTTAGCTTCAAACCTCTGAGATTTGACGAGGAAGAA GTGAAACAGAAGAAATGCCATTTACTAGGGACTTATTTGTCTCTCATTCT GGGCCCCCTCCCAATGAAACGGTCTGTATGTTACTTTATTGTCTTCACTG GTGCTTCAATTTATGGCTCTTTTGCAGGAGAAGCTTTTAAAGAAAATGCA GTCTTTATGGGAAAAAGCTTGTGAAAATCAGAGAAACCTGAATGTGGAAA CCACCAGAATCAGCCACTGGAAGGTTAGTCCTGTAATACCCTACCTTCTC CAGGAACTTATGGTGGGCAAATGGGTGACTCTTAAAATAGGAACTTGATA TCAAACCGTAATGTTTCTGGGAGTCAAAAAAAAAAAAAAAAGAGAAGAAA ACATTGAGAAAAAATGGTCTCATTTCTTATGTAGAATAGTGTGACTATTA GATGGGATTTCTAACAAAACCGTTGATGTTACCCAAAGCATGCTGATTTG TTTTCATACAAACCTGTAGCTATACACCAACAGATACAAGAAACTGGGCC ATCTCACAGCATTCTATATGTGCTGGTTGGATAAATGCTGGGCATAAGAG TTATTTGGCAGTCATGGAAAGCTCAAGTGAACCTTCTGAGCCTGGGTCAG CATTAATCTGAATGCTGGTGGACAAGTAGTATTTGGAATTGCATGGAAAA TTTGAGGCAGAAAGAGTGACAGGGGAAATCTAGGGCAACCATGAAATTAA GAATCCAAACTAATTAATATTGAATAATACATAACATATGATGAGAAAAG TGGTGAGAAATATGGATTTGTGTCTTGAGGGAGACATGCAAACATGCCCA AAATATGGGAACTAGTATCTAAATATAAGGAGAACTCTGAGGACTTCAGA AAAATATTAAAAATGATTTCCTCTTTGTGGATGTATACTCTGAGGGTATG ATAGCTAATATTAGTGTGTTGAAAAGTATTTCATAAGAACCTAGTCTATG TTGAATATTAAATTAGAAAATTTGCCAGTATAGAAGAAAGAAAGCATCTT TGTCCTCACAAATCGTACAATCCAAATGAGAGAGGCAAAAATGGTCAACA TGCAAATATGTGCAATACATGATGTGTTCGAGTGTGGTAAGTTCTTTGTT GGAGAATAATCAAGCAGGGAAGTAGAAAAGGACAATAGAGGCCAGAAACT GGAGATTAGTGTGTGAGTTTAAAATAGGGTGGTCAGAAAAAAGACTCACT GAAAAATTCAAATTGAACAAAGTTTCAAAGAGGAAGGGGAGCACAAAAGT GTGTATGGATATATATGTGGACCATGAGTGTGTATATGTGTGTGTGTGTG TCTGTGTGTAAAATTCCAGTTGGAGAGAACAGCATATGCAGTAATTTTGA GTTTGTGTATATTTGGAGGCCTGGGGAACCAAAGAAGTCTATGTTTCAGA TTGGGATGACTTAGAAAAAGAATGGAAGGAAATGAATTCAGGGAGACAAA AATGGCCAAATCATAAATGCAGCTTTATTAGGATAGGTTTTGCTGGGCGA AATGCATTTAGCTGGACATGTTAGTCTAAGGTCATTTCATATATAATGAG TTTAAGCAACTTGTTACATATCTCAGAAATAGAAATAATTATTTCCTTTC TAGTAACTATAGCTCTATACTCCAACTCTTAAGCATGAACTATTCTTACT TTTCCATAAATGTGGGTTGGAATAGAGAAATTCAAATTGTGTTTTTTTTT ATTTCCAACTATCTTAGAACACTCCTTATCTTGAATAAATTTAATGTAAT TGGTCAGATACATCTATGTTGATCTTTATGCAGAAAGAAAGGAAAGGAAA AAATTTGTGGATTCTAAGAACTGGCAAGACTGAGGTTTAAACTATTGGAT GTTCGAGAGACAAAAGGAATCAGTGAGATTTAATAGGAGATGGATATATA CATTTCTCTTTTGACTAACCCATTATTACTGCCGTATTATGTGAATGTAA GGCTAGAAGCTATTAAAGCTGAGTATCAGAAGATGCCTGCATTTCATCAT GAAGAAGAAAAACATAATTTGGAGATGCTGAAAAAGAAGGGAAAAGATAT TTTTCATCAACTTCATTTAAGTAAAGCCAAAATGGCTCATAGGAGGGAGA TTTTTAAGAGGAATGTAAGCGGAGCTGATGAAAATGTGCCATAAACCACA TGTGGAGCTACTTCAGGTACAAACTCGCAATGTGGTTTCAGGTTTTTGAC TATTCACATGTATAAGTATTTTCCTCATGGCTGAAATCCATCTCCCTACC TTTATTTCCATGATGTGTTTCCAAAAACACATTCGCATAACTAATGCTAC TTTATTGGGAGAGTATAGCCCCGCCAAGGGATCCTACCAGGCCAAAGGTC CCTCCTACTTTATCCACCAGCCACAAAACTTTGTGGAATGGTCAAGGTAA CAGCCCCAATAACTATTCCCCAACTAAGTCAATAATACATTTAGGGTTGT CAAACATGTATAAAATAGTGAGTGATTCATTTACATTTAGGTTAATTTGA GGACATGGCAAGATCAGAAGTTTTGGGAATCTAGGCTCACATTAATATTA TTTTGGGATCCACTCATTTGGATAATAGGTTCTGGGAAAGATGACCGAGT AGGTTATTCGAGGTTACCATGGAGCATAGACTCTCTGGGCTTCTTCTCCC TTCACTTTTTGGAGAATGTCTTCAAGACTCAGACTTTCCCGGGACATTAA TTAGTGACAATATGATTGACTGGGTTTTTCATTACAGAAGAAATAGAAAA TGCTTTGCAGAAGAGAAGAAGGTAGGGAAATAATATCTTGAGGAACTGAC TCCAAATTTCACACTGAACTTAATGAAAGATGCATCTTGTGAACTGCACT AAATCTTTCTATTTTTTTTTTTTACAGGCTTTTGGAGACATATTATACAG GTGAGTATGTACCTGGATTTTAGCATATGTTCTTTCACTTTCCACGAATA TCAAAGCAGGCTCTACCAAAGTCATGGCATAAACGATTAAGATATTGATA CTATTTTTTTTTGCATCTTCTTTCATTCCCACACCAGAAAAGACAAGACC ACTAAGTAAATAAATACATAAATAAATAAATAGTGAAGTAAAATTTTAAA AAACATGTTTATTCCTGACTTTGTTTTATTGCTTAAAAGCCTGCATAGGT GAAAGATGAAGTTTTGTTTTGTGGATGGTGAGAAAGTCACCAGAGGAAGC AGGAGAGAAGTGGGGGAAGTATTTTAGCAGTGAAAAAGTTGATGATTTGT TGTTCATACCTATACACATATCAGTTAACAGTTCCGAAAAATAGATTGAA AAAACTATGGAGTGTTAGAACTGTATAAGTCTCTAGGGAAGCTTGTTTCT AAAAGGCAGGTCTAGCTGCCTAGGACAAGTTTCACATTCTTTATCTTGAA AAGGAAGCAGCAGATGCAGCAGTCTCCCCAGAACCCCTCTATTTCAGACA AAGATGTCAGGGGAGTCTGCCAAGAAGTGGAACTCAGAATTTCGTTTCTA AATATTCTCAAGGCCATAAGGCTAAGGAACTTTACACATTTGGGGCAAAA AATAAGAAACATCAGACTGAATTCTGACTCAGACTCTCCCACTATGCTTT AAAATTTGGAAACTGTAAATAGAAATTAATTCCAAAAAGGAAGGAATAAT TTTTGAATTATCAAATTTGTGGGTTCAAAGGATTCTCATGAAATGTCTTT TAAACACAAGTAGTGATTTTTATTTATTTTATGGCTGTAGATGTTGTAAC TGCAGGTTTTTCCTTGCAGGAGTGAGTCCGTGCTGCTGCACATGCCCCAG CCTCTGAATCTAGCGCTCAGGGCAGGGCCCATCACTGGACTGAGGGACAG GCTCAACCAATTCTGAGGTAAGTCTCCACCCACAGGCAGCACCCCCACTA TCTAAATATTATTATTGTTAGGATCACATAGGTAATATTTCATCCTTTAT CAAATATTTTACTACTTTATAAGCATAAGAGAACAATATAATCATGCAAC CCTTTTGTATCTGTGTCTGTATAGTCAGATTTATAGCATTAAGATTGAAA GATAGTGAAAAACAAATACATTATGGCCTCATATGTACTGAGTAATGTAA TGGGAAAAAAGGAGTAGTGTAGCAAATCTAAAAAAGGAGCAAATGGAACA ATGCTCAGAATGAAGGTGAGTTATTTAATGTTAAATACAAAATTTTACAT TTCTTTGGTGTATTCATTTGAACAGTTAAGAACTGTTCTTTTGGGGAATA TAGTTCGCTGGAGATTCTTGGGGTTTTTTAATTTTTTAAATGGATATATA TTATGTATTTCCAAGAAAATTAGTTAATGGGTAAAAATAAAAAGAAATCA TTTTGTGAATACAAGTAAAACATCAAACAAAAAGAAGTTCAGTTTAATTG CAATATGAAAAGCTACATGTTAAGTCTAAAATCCAGCTTCAGCCCCAAGC TAACATGGAGGGCCACAGAGAGACTGGTAAAAGATTTTGCAGAAATCTGC TTCAAATGATCACTTATGACATGTACTTATGGATTTTTATCCAGTTATCT AGAGCAGTTCTTGAGTAACTGAAAATCTTCACATGCTTTCCAAAATGATG GCACTAGTTTTTAAGAATAAGAAACATTTCTAAATAAAGATCTTGATAAC AGCATAGCATTTAGGGCGTATAATGTGCAAATTTTGCTTTGAAAATTGGA TTGAAAGAAGTTGGTCTTACATTTGGCTGTCAGTATGTAAGTTTTCAAAA CATTTTTAATATCTGTGGTTAGCATTTTGTTTGTCTTGTAGATAATATTA ATCATCTCTATACTTTATTAGAAGTTACAAGCAAAAGTGTCCTTGTGACT TTACGTTTCCTGGTAAATTAACTTTTTGATAGAACGATTTTTGCTTATTT ACACATGCCTATGCATGTTTTCTTTCTTTCTTTCTTTCTATTTATTTATT TATTTATTTTGCAGTGGATATTACTCTGCATCACAATGAAGCCAACAGTC ATATCTTCCGATGTGGAGATTTGAGAAGCATTTGTATTGGATGTGACCGT CAAAATCCGCCCCATATCACTGCAACACCTACAAGTTTTCTTGCATGGGG TGCTCAGACTTTCACCTCTGGCAAATATTACTGGGAGGTCCATGTGGGGG ACTCTTGGAATTGGGCTTTTGGTGTCTGTAATAAGTATTGGAAAGGGAAG AATCAGAATGGCAATATATATGGAGAGGAGGGACTCTTTAGTCTTGGGTG TGTTAAGAACGACATTCAGTGCAGTCTCTTTACCACCTCCCCAATTACAC TGCAGTATGTCCCAAGACCTACCAACCATGTAGAATTATTCCTGGATTGT GAAGCTAGAACTGTGAGCTTCGTTGATGTTAGTCAAAGCTCCCCTATATA CACCATCCCTAATTGCTCCTTCTCACTTCCTCTCAGACCTATCTTTTTCT GTATTCTCCTCTGACCAGAGACAAATCAGAAATGTGTTCATCTGCTGTGG GAACCCCTTTATCCCAGAAAGCCCTCTTCCTTGTGCCTTATCAAACAGGA CAAATAGGTTCGGTTTTATGTCTTGAATTGCATTCTAATGTT	A A	exon_loss_variant exon_loss_variant	HIGH	NA18941.hp1 NA18943.hp2 NA18963.hp2 others(6): Show NA18941.hp1 NA18943.hp2 NA18963.hp2 NA18966.hp1 NA18973.hp1 NA18974.hp2 NA19056.hp1 NA19062.hp2 NA19082.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0005 a0000c0004t0006 a0000c0004t0005 a0000c0004t0006	a0000c0004t0005g0007 a0000c0004t0006g0007 a0000c0004t0005g0007 a0000c0004t0006g0007	9	272	0.0331	-6941	c.45- others(11): Show c.45-772_*633del		TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding	2/6				INFO_REALIGN_3_PRIME	chr11	TogoVar
TRIM51G_chr11_48970498_48988885	48978871	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0006 a0001c0011 others(7): Show a0001c0001 a0001c0006 a0001c0011 a0003c0003 a0005c0007 a0006c0008 a0007c0009 a0008c0017 a0009c0013 a0010c0012	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0011t0001 a0003c0003t0001 a0005c0007t0001 a0006c0008t0001 a0007c0009t0001 a0008c0017t0001 a0009c0013t0001 a0010c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0004g0054 a0001c0006t0003g0032 a0001c0006t0003g0044 a0001c0006t0003g0098 a0001c0006t0003g0099 a0001c0011t0001g0126 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0005c0007t0001g0112 a0005c0007t0001g0113 a0005c0007t0001g0114 a0006c0008t0001g0122 a0006c0008t0001g0125 a0007c0009t0001g0121 a0008c0017t0001g0123 a0009c0013t0001g0133 a0010c0012t0001g0136	274	424	0.6462	0	c.738 others(5): Show c.738+1G>C		TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/6					chr11	TogoVar
TRIM51G_chr11_48970498_48988885	48979006	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19059.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0002 a0012 a0013 a0002 a0012 a0013	a0002c0002 a0002c0004 a0002c0015 others(3): Show a0002c0002 a0002c0004 a0002c0015 a0002c0016 a0012c0018 a0013c0010	a0002c0002t0002 a0002c0004t0002 a0002c0015t0002 others(3): Show a0002c0002t0002 a0002c0004t0002 a0002c0015t0002 a0002c0016t0002 a0012c0018t0002 a0013c0010t0002	a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 others(58): Show a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0004t0002g0010 a0002c0004t0002g0016 a0002c0004t0002g0038 a0002c0004t0002g0039 a0002c0004t0002g0042 a0002c0004t0002g0055 a0002c0004t0002g0057 a0002c0004t0002g0065 a0002c0004t0002g0074 a0002c0004t0002g0077 a0002c0004t0002g0079 a0002c0004t0002g0081 a0002c0004t0002g0082 a0002c0004t0002g0086 a0002c0004t0002g0094 a0002c0004t0002g0095 a0002c0004t0002g0096 a0002c0015t0002g0064 a0002c0016t0002g0083 a0012c0018t0002g0067 a0013c0010t0002g0062	139	424	0.3278	0	c.604 others(3): Show c.604C>T	p.Gln others(4): Show p.Gln202*	TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/7	755/1510	604/1359	202/452		chr11	TogoVar
TTC24_chr1_156574723_156592719	156583439	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00741.hp2 HG01123.hp1 HG01168.hp1 others(23): Show HG00741.hp2 HG01123.hp1 HG01168.hp1 HG01515.hp1 HG01517.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02976.hp2 HG03195.hp1 HG03490.hp1 HG03492.hp2 HG03942.hp1 HG04228.hp1 HG06807.hp1 NA18945.hp2 NA18951.hp2 NA18963.hp2 NA18974.hp1	a0003 a0009 a0010 a0003 a0009 a0010	a0003c0004 a0009c0010 a0010c0011 a0003c0004 a0009c0010 a0010c0011	a0003c0004t0001 a0003c0004t0006 a0003c0004t0012 others(2): Show a0003c0004t0001 a0003c0004t0006 a0003c0004t0012 a0009c0010t0001 a0010c0011t0001	a0003c0004t0001g0006 a0003c0004t0001g0017 a0003c0004t0001g0024 others(9): Show a0003c0004t0001g0006 a0003c0004t0001g0017 a0003c0004t0001g0024 a0003c0004t0001g0031 a0003c0004t0001g0034 a0003c0004t0001g0070 a0003c0004t0006g0006 a0003c0004t0006g0061 a0003c0004t0012g0033 a0009c0010t0001g0012 a0010c0011t0001g0006 a0010c0011t0001g0045	26	442	0.0588	-1	c.114 others(5): Show c.1144delC	p.Gln others(5): Show p.Gln382fs	TTC24	ENSG00000187862.13	transcript	ENST00000368236.8	protein_coding	5/11	1184/2958	1144/1749	382/582	INFO_REALIGN_3_PRIME	chr1	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
UBA1_chrX_47188829_47220128	47199105	C C	CT CT	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18974.hp1 NA18974.hp1	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0001 a0006c0022t0001	a0006c0022t0001g0122 a0006c0022t0001g0122	1	281	0.0036	1	c.176 others(4): Show c.176dupT		UBA1	ENSG00000130985.17	transcript	ENST00000335972.11	protein_coding	3/25				INFO_REALIGN_3_PRIME	chrX	TogoVar
UBA1_chrX_47188829_47220128	47199253	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0001 a0006c0022t0001	a0006c0022t0001g0122 a0006c0022t0001g0122	1	281	0.0036	1	c.222 others(4): Show c.222dupT	p.Val others(4): Show p.Val75fs	UBA1	ENSG00000130985.17	transcript	ENST00000335972.11	protein_coding	4/26	419/3572	223/3177	75/1058	INFO_REALIGN_3_PRIME	chrX	TogoVar
UBTFL1_chr11_90080950_90092131	90086720	C C	CT CT	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00597.hp1 HG00639.hp2 others(62): Show HG00323.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG01069.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp2 HG03453.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp1 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18979.hp2 NA18983.hp1 NA18985.hp2 NA18990.hp1 NA18992.hp2 NA19002.hp2 NA19009.hp2 NA19043.hp1 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0009	a0002c0002 a0003c0003 a0005c0005 others(1): Show a0002c0002 a0003c0003 a0005c0005 a0009c0007	a0002c0002t0000 a0003c0003t0000 a0005c0005t0000 others(1): Show a0002c0002t0000 a0003c0003t0000 a0005c0005t0000 a0009c0007t0000	a0002c0002t0000g0000 a0003c0003t0000g0000 a0005c0005t0000g0000 others(1): Show a0002c0002t0000g0000 a0003c0003t0000g0000 a0005c0005t0000g0000 a0009c0007t0000g0000	65	276	0.2355	1	c.772 others(4): Show c.772dupT	p.Trp others(5): Show p.Trp258fs	UBTFL1	ENSG00000255009.4	transcript	ENST00000530464.2	protein_coding	1/1	773/1182	773/1182	258/393	INFO_REALIGN_3_PRIME	chr11	TogoVar
UNC93A_chr6_167286315_167321014	167296214	G G	A A	stop_gained stop_gained	HIGH	HG00408.hp2 HG00438.hp1 HG00544.hp2 others(51): Show HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00673.hp2 HG01123.hp2 HG01346.hp2 HG01358.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02056.hp1 HG02135.hp2 HG02148.hp2 HG02293.hp2 HG02451.hp1 HG02630.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03195.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp2 NA18939.hp1 NA18943.hp2 NA18950.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18979.hp2 NA18994.hp2 NA19001.hp2 NA19002.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19088.hp1 NA19091.hp1 NA20752.hp2	a0004 a0004	a0004c0004 a0004c0008 a0004c0011 others(4): Show a0004c0004 a0004c0008 a0004c0011 a0004c0019 a0004c0026 a0004c0027 a0004c0028	a0004c0004t0003 a0004c0004t0006 a0004c0008t0001 others(6): Show a0004c0004t0003 a0004c0004t0006 a0004c0008t0001 a0004c0008t0004 a0004c0011t0004 a0004c0019t0001 a0004c0026t0003 a0004c0027t0001 a0004c0028t0001	a0004c0004t0003g0005 a0004c0004t0003g0010 a0004c0004t0003g0028 others(43): Show a0004c0004t0003g0005 a0004c0004t0003g0010 a0004c0004t0003g0028 a0004c0004t0003g0088 a0004c0004t0003g0098 a0004c0004t0003g0103 a0004c0004t0003g0105 a0004c0004t0003g0109 a0004c0004t0003g0110 a0004c0004t0003g0111 a0004c0004t0003g0112 a0004c0004t0003g0118 a0004c0004t0003g0121 a0004c0004t0003g0122 a0004c0004t0003g0127 a0004c0004t0003g0130 a0004c0004t0003g0131 a0004c0004t0003g0132 a0004c0004t0003g0133 a0004c0004t0003g0136 a0004c0004t0003g0230 a0004c0004t0006g0140 a0004c0008t0001g0080 a0004c0008t0001g0106 a0004c0008t0001g0107 a0004c0008t0001g0113 a0004c0008t0001g0114 a0004c0008t0001g0117 a0004c0008t0001g0119 a0004c0008t0001g0123 a0004c0008t0001g0125 a0004c0008t0001g0129 a0004c0008t0004g0102 a0004c0008t0004g0116 a0004c0011t0004g0011 a0004c0011t0004g0104 a0004c0011t0004g0120 a0004c0011t0004g0124 a0004c0011t0004g0134 a0004c0011t0004g0135 a0004c0011t0004g0342 a0004c0019t0001g0126 a0004c0019t0001g0128 a0004c0026t0003g0108 a0004c0027t0001g0226 a0004c0028t0001g0115	54	448	0.1205	0	c.452 others(3): Show c.452G>A	p.Trp others(4): Show p.Trp151*	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	3/8	627/2111	452/1374	151/457		chr6	TogoVar
UNKL_chr16_1358205_1419704	1397263	TCCCCGTG others(167): Show TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTG TCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCACCCCCGTGCTTCA CGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACA GAGGACTTGGCTCCCTGCCCCCCAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18942.hp2 NA18974.hp1 NA18942.hp2 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0160 a0002c0002t0001g0067 a0002c0002t0001g0160	2	322	0.0062	-174	c.735 others(11): Show c.735-142_766del	p.Ser others(5): Show p.Ser246fs	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	6/15	779/5250	735/2202	245/733		chr16	TogoVar
USP29_chr19_57114985_57136926	57131414	C C	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(404): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.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 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.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 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.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 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 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.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 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.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 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.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 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 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	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020	a0001c0001 a0001c0003 a0001c0005 others(23): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0019 a0001c0021 a0001c0023 a0001c0028 a0002c0002 a0002c0026 a0003c0004 a0005c0010 a0006c0008 a0007c0009 a0008c0012 a0009c0011 a0010c0027 a0011c0025 a0012c0016 a0013c0015 a0014c0018 a0015c0020 a0016c0022 a0017c0017 a0019c0024 a0020c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0005t0001 a0001c0007t0004 a0001c0019t0001 a0001c0021t0008 a0001c0023t0004 a0001c0028t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0026t0002 a0003c0004t0003 a0003c0004t0006 a0005c0010t0001 a0006c0008t0002 a0007c0009t0001 a0008c0012t0003 a0009c0011t0003 a0010c0027t0004 a0011c0025t0001 a0012c0016t0002 a0013c0015t0003 a0014c0018t0012 a0015c0020t0001 a0016c0022t0001 a0017c0017t0002 a0019c0024t0001 a0020c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0193 a0001c0001t0002g0002 a0001c0001t0002g0098 a0001c0001t0002g0125 a0001c0001t0013g0002 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0002g0016 a0001c0003t0002g0196 a0001c0003t0002g0198 a0001c0003t0004g0008 a0001c0003t0004g0014 a0001c0003t0004g0017 a0001c0003t0004g0023 a0001c0003t0004g0029 a0001c0003t0004g0055 a0001c0003t0004g0137 a0001c0003t0004g0138 a0001c0003t0004g0147 a0001c0003t0004g0151 a0001c0003t0004g0152 a0001c0003t0004g0153 a0001c0003t0004g0154 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0179 a0001c0003t0004g0200 a0001c0003t0005g0024 a0001c0003t0005g0035 a0001c0003t0005g0036 a0001c0003t0005g0067 a0001c0003t0005g0068 a0001c0003t0005g0075 a0001c0003t0007g0018 a0001c0003t0007g0069 a0001c0003t0008g0045 a0001c0003t0008g0099 a0001c0005t0001g0001 a0001c0005t0001g0002 a0001c0005t0001g0013 a0001c0005t0001g0021 a0001c0007t0004g0029 a0001c0007t0004g0148 a0001c0019t0001g0012 a0001c0021t0008g0100 a0001c0023t0004g0017 a0001c0028t0001g0021 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0175 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0009g0011 a0002c0002t0009g0031 a0002c0002t0010g0058 a0002c0002t0011g0162 a0002c0026t0002g0180 a0003c0004t0003g0003 a0003c0004t0003g0007 a0003c0004t0003g0009 a0003c0004t0003g0010 a0003c0004t0003g0019 a0003c0004t0003g0025 a0003c0004t0003g0037 a0003c0004t0003g0038 a0003c0004t0003g0039 a0003c0004t0003g0040 a0003c0004t0003g0042 a0003c0004t0003g0043 a0003c0004t0003g0070 a0003c0004t0003g0072 a0003c0004t0003g0073 a0003c0004t0003g0074 a0003c0004t0003g0076 a0003c0004t0003g0077 a0003c0004t0003g0078 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0083 a0003c0004t0003g0084 a0003c0004t0003g0085 a0003c0004t0003g0086 a0003c0004t0003g0087 a0003c0004t0003g0088 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0006g0003 a0003c0004t0006g0009 a0003c0004t0006g0010 a0005c0010t0001g0001 a0005c0010t0001g0002 a0005c0010t0001g0020 a0006c0008t0002g0066 a0006c0008t0002g0199 a0007c0009t0001g0026 a0008c0012t0003g0007 a0009c0011t0003g0041 a0010c0027t0004g0014 a0011c0025t0001g0027 a0012c0016t0002g0201 a0013c0015t0003g0007 a0014c0018t0012g0197 a0015c0020t0001g0004 a0016c0022t0001g0071 a0017c0017t0002g0176 a0019c0024t0001g0131 a0020c0013t0001g0001	407	416	0.9784	0	c.273 others(4): Show c.2739C>A	p.Tyr others(4): Show p.Tyr913*	USP29	ENSG00000131864.11	transcript	ENST00000254181.9	protein_coding	4/4	3251/3763	2739/2769	913/922		chr19	TogoVar
USP51_chrX_55479616_55494848	55488871	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0039 a0004c0004t0013g0039	1	296	0.0034	-1	c.68d others(3): Show c.68delG	p.Gly others(4): Show p.Gly23fs	USP51	ENSG00000247746.5	transcript	ENST00000500968.4	protein_coding	3/3	387/4643	68/2136	23/711		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237191	A A	T T	stop_gained stop_gained	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0042 a0007c0007t0001g0042	1	328	0.0031	0	c.379 others(3): Show c.379A>T	p.Lys others(4): Show p.Lys127*	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	5/7	629/1805	379/624	127/207		chr11	TogoVar
VEGFD_chrX_15340596_15389413	15353087	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0256 a0004c0007t0002g0256	1	302	0.0033	1	c.722 others(4): Show c.722dupA	p.Asn others(5): Show p.Asn241fs	VEGFD	ENSG00000165197.5	transcript	ENST00000297904.4	protein_coding	5/7	1189/2069	722/1065	241/354		chrX	TogoVar
VEGFD_chrX_15340596_15389413	15358136	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0256 a0004c0007t0002g0256	1	302	0.0033	-1	c.358 others(4): Show c.358delG	p.Val others(5): Show p.Val120fs	VEGFD	ENSG00000165197.5	transcript	ENST00000297904.4	protein_coding	3/7	825/2069	358/1065	120/354		chrX	TogoVar

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