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.

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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
RP2_chrX_46832043_46887358	46853583	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA18961.hp1 NA18961.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0083 a0005c0006t0001g0083	1	274	0.0037	1	c.212 others(4): Show c.212dupA	p.Asn others(4): Show p.Asn71fs	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	2/5	271/3700	213/1053	71/350	INFO_REALIGN_3_PRIME	chrX	TogoVar
RP2_chrX_46832043_46887358	46853614	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18961.hp1 NA18961.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0083 a0005c0006t0001g0083	1	274	0.0037	1	c.243 others(4): Show c.243dupT	p.Thr others(4): Show p.Thr82fs	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	2/5	302/3700	244/1053	82/350	INFO_REALIGN_3_PRIME	chrX	TogoVar
RP2_chrX_46832043_46887358	46854041	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA18961.hp1 NA18961.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0083 a0005c0006t0001g0083	1	274	0.0037	1	c.669 others(4): Show c.669dupA	p.Ser others(5): Show p.Ser224fs	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	2/5	728/3700	670/1053	224/350	INFO_REALIGN_3_PRIME	chrX	TogoVar
SAXO1_chr9_18922650_19038209	18928510	G G	A A	stop_gained stop_gained	HIGH	HG00621.hp2 HG02015.hp1 NA18961.hp2 HG00621.hp2 HG02015.hp1 NA18961.hp2	a0011 a0014 a0011 a0014	a0011c0012 a0014c0025 a0011c0012 a0014c0025	a0011c0012t0002 a0014c0025t0015 a0011c0012t0002 a0014c0025t0015	a0011c0012t0002g0022 a0011c0012t0002g0024 a0014c0025t0015g0088 a0011c0012t0002g0022 a0011c0012t0002g0024 a0014c0025t0015g0088	3	364	0.0082	0	c.967 others(3): Show c.967C>T	p.Arg others(4): Show p.Arg323*	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	4/4	1268/2128	967/1425	323/474		chr9	TogoVar
SCAPER_chr15_76342904_76910340	76883817	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show HG00140.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0008 a0010 a0011 a0012	a0002c0002 a0002c0022 a0003c0003 others(5): Show a0002c0002 a0002c0022 a0003c0003 a0005c0011 a0008c0015 a0010c0023 a0011c0024 a0012c0025	a0002c0002t0002 a0002c0022t0002 a0003c0003t0002 others(9): Show a0002c0002t0002 a0002c0022t0002 a0003c0003t0002 a0003c0003t0005 a0003c0003t0006 a0003c0003t0007 a0003c0003t0011 a0005c0011t0002 a0008c0015t0002 a0010c0023t0002 a0011c0024t0002 a0012c0025t0002	a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0022t0002g0290 a0003c0003t0002g0186 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0191 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0198 a0003c0003t0002g0199 a0003c0003t0002g0200 a0003c0003t0002g0201 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0206 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0209 a0003c0003t0002g0210 a0003c0003t0002g0211 a0003c0003t0002g0212 a0003c0003t0002g0294 a0003c0003t0005g0195 a0003c0003t0006g0196 a0003c0003t0007g0250 a0003c0003t0011g0312 a0005c0011t0002g0225 a0005c0011t0002g0275 a0005c0011t0002g0285 a0008c0015t0002g0220 a0008c0015t0002g0277 a0010c0023t0002g0229 a0011c0024t0002g0284 a0012c0025t0002g0263	117	312	0.3750	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/32	102/5033	1/4203	1/1400		chr15	TogoVar
SERPINB11_chr18_63697960_63728893	63712604	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0002 a0001c0005 a0001c0009 others(16): Show a0001c0002 a0001c0005 a0001c0009 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0033 a0004c0004 a0004c0007 a0004c0010 a0004c0017 a0004c0023 a0004c0024 a0013c0032	a0001c0002t0001 a0001c0005t0002 a0001c0005t0005 others(18): Show a0001c0002t0001 a0001c0005t0002 a0001c0005t0005 a0001c0009t0001 a0001c0019t0004 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0022t0006 a0001c0028t0002 a0001c0029t0002 a0001c0030t0001 a0001c0031t0001 a0001c0033t0002 a0004c0004t0002 a0004c0007t0002 a0004c0010t0001 a0004c0017t0002 a0004c0023t0002 a0004c0024t0002 a0013c0032t0002	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0005t0002g0001 a0001c0005t0002g0026 a0001c0005t0002g0040 a0001c0005t0002g0042 a0001c0005t0002g0100 a0001c0005t0002g0106 a0001c0005t0002g0135 a0001c0005t0005g0001 a0001c0009t0001g0010 a0001c0009t0001g0015 a0001c0019t0004g0010 a0001c0020t0002g0001 a0001c0021t0002g0044 a0001c0021t0002g0116 a0001c0022t0001g0104 a0001c0022t0006g0001 a0001c0028t0002g0010 a0001c0029t0002g0001 a0001c0030t0001g0044 a0001c0031t0001g0001 a0001c0033t0002g0119 a0004c0004t0002g0005 a0004c0004t0002g0007 a0004c0004t0002g0016 a0004c0004t0002g0023 a0004c0004t0002g0027 a0004c0004t0002g0043 a0004c0004t0002g0096 a0004c0004t0002g0099 a0004c0004t0002g0117 a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0125 a0004c0004t0002g0132 a0004c0004t0002g0133 a0004c0007t0002g0011 a0004c0007t0002g0022 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0010t0001g0023 a0004c0017t0002g0118 a0004c0017t0002g0124 a0004c0023t0002g0095 a0004c0024t0002g0050 a0013c0032t0002g0127	204	422	0.4834	0	c.268 others(3): Show c.268G>T	p.Glu others(3): Show p.Glu90*	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	4/8	330/1735	268/1179	90/392		chr18	TogoVar
SFTPA2_chr10_79550852_79565407	79560363	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18952.hp2 NA18961.hp2 NA18975.hp1 others(1): Show NA18952.hp2 NA18961.hp2 NA18975.hp1 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	4	472	0.0085	0	c.-54 others(5): Show c.-54+1G>A		SFTPA2	ENSG00000185303.17	transcript	ENST00000372325.7	protein_coding	1/5					chr10	TogoVar
SIGLEC12_chr19_51486227_51506800	51501537	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0008 a0019 a0020	a0001c0002 a0001c0003 a0001c0010 others(23): Show a0001c0002 a0001c0003 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0020 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0003c0016 a0003c0017 a0003c0025 a0003c0048 a0003c0052 a0005c0005 a0005c0029 a0005c0030 a0008c0018 a0019c0031 a0020c0040	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0010t0002 a0001c0012t0002 a0001c0014t0003 a0001c0019t0003 a0001c0020t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0048t0001 a0003c0052t0002 a0005c0005t0001 a0005c0029t0001 a0005c0030t0003 a0008c0018t0001 a0019c0031t0001 a0020c0040t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0012 others(92): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0003g0062 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0005g0032 a0001c0002t0005g0095 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0027 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0066 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0112 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0010t0002g0010 a0001c0012t0002g0028 a0001c0012t0002g0069 a0001c0012t0002g0084 a0001c0014t0003g0024 a0001c0019t0003g0035 a0001c0020t0001g0036 a0001c0032t0001g0064 a0001c0033t0001g0065 a0001c0034t0001g0111 a0001c0035t0001g0068 a0001c0036t0001g0070 a0001c0037t0001g0093 a0001c0038t0001g0108 a0001c0039t0001g0109 a0003c0016t0001g0169 a0003c0016t0005g0049 a0003c0017t0006g0048 a0003c0017t0006g0168 a0003c0025t0005g0050 a0003c0048t0001g0151 a0003c0052t0002g0170 a0005c0005t0001g0017 a0005c0005t0001g0020 a0005c0005t0001g0026 a0005c0005t0001g0056 a0005c0005t0001g0057 a0005c0005t0001g0058 a0005c0005t0001g0059 a0005c0029t0001g0054 a0005c0030t0003g0055 a0008c0018t0001g0052 a0008c0018t0001g0053 a0019c0031t0001g0060 a0020c0040t0001g0113	229	432	0.5301	1	c.196 others(4): Show c.196dupG	p.Ala others(4): Show p.Ala66fs	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	263/2269	196/1788	66/595		chr19	TogoVar
SIGLEC5_chr19_51605960_51635401	51629822	CCCTGCCA others(5572): Show CCCTGCCATACCTGTCACCTCCAAGTTCAGCTTATTCTGTTGGTAGCTAT ATTTTACATCCCTTCCTCTCTCCACGCGGAAGAAATAGCTTCCCGTGTCC TCCATTCTGGCATCTCCGATGCTCAGGGAGCAGTTCTTCTTCTGGACATC CCCAAGGAGGCGGAATCGGCCCTGGGTCTCTGGCTTCACTCTTCTGTCTG GGTTGTTTGTGGCCACAACCTCAGCGTAGTATGGGATCTCCCCGTCCCGG AACCAGTAGACGTAGAGTGGGGGAGAGGAATACCAGGATCTCCAGGGGTA AGAGAAGGAGCAGGGCACAAGGACGCACAGGCCCTCCTGCACCGTCACCG ACTTCTGCACTTGCAGCTCGTACACTGGCTTCTCCTGCAGGGACCCTGGG GGGACACAGAAGCTCAGCTGCAGCTCCAGCCCCCCTTCTCACCCCTGTGC CTGTCCCTCCTCCCTCAGCTCACTCACCCCCCCACAGCAGGGGCAGCAGC AGCAGGGGCAGCATGTCTCCATCCGCCAGGGCCCCAGCCCAGTCCCAGGT CCGGCTGTCAGGGAAGGAAATGCTCCAAATGTCCAAACGTGGGGTGGGGC TGAGAAAGCCCCGACAGGAAGCCGGAGGGTGAGTGAGAGCTGTGGACGCG CACAGAAGGGGAACTTGGGCATCACGTGCTGTTGGGGTGAGGCGGGGGCT GGGAAGCCATTCTGCTCCCACCCCGACTGGACGCCGCAGGTGAAGATACT GAGGCCCCCAGACGATGTGAGGCTTGTCCAGCTGAGGATCTGGAGGTGAT CACCCCTCAAATGATGTTTCAGTCATGAGTGAGATCCTCAGGGGGCTGAA TGCAGAAAGAAAAGAGAAACAAGGGCTTGTCCTGGTGATGAGGTGAGATG TCAGAACCACCCTCCACCTAAAAACCATGAAACATTCTGGAAATACATAA TTTTAAATTTGATTTTAAATGTTCAAAGTGACCAGGCATGGTAGCTCATG CCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGAGGGTTGTTTGAGCC CAGGAGTCTGAGACCAGCCTGGGCAACATAGCAAGTCACCATCTCTACAA AAAATAAAAACTATTAGCTGGTGTGGTGGCACACCTATAGTCTCAGCTCC TCCGGGGCACTGAAATAGGAGAATTCCTTGAGCCCAGGAGTTTGAGGTTG CTGTGAGCCGTGATCGCACTACGGCATTCCAGCCTGGGCAACAGAGTGAA ACCCTGCCTTAAAAAAAAAAAAAAAAAAGTTCAAAAGGGCTGAAAAAAAA TTTTTTTGACCCAAATTTCGTGGAGGGTCAGAGCATGAGAGAGCTGAAGC ACTCTTATGTTAAGAAGATTCTTGGGACACAGCACAGTCCACTTTGGGTC TTGATGGACCTGAGGGTCTTGTGGGACGGCAGTGAAACACAAGCCCTGCT AAAGCCTCATCCTATTAAGGAGCTACAGAAGCAAATTTGCCACTGTGAGG CTGATGAAGCTCAATCTTCAATGCCCTCCCTTGCAGGATCCACTTTTCAG ATGCCCAGGAGGGGCCCACGCAATGTGTGGAAATAACCTGCCTTGTTACT GCTCTTTTATGAAAGAAATTTCATAATAGTTTCCCAAAATTTAACAATAT ATTAAAAATTTTTCACATTCCGATTAATGTGTTGTGAGAATAAAGACAGT TTCTTAAACTATCAATGATCAAAACAAACGTCAACCACCCATGCCAGAAG AAATACCGACTTCTCTTTCTATTCTATCTATAAAAATTGTATTATAAAAT TATTCTCCAATATTGGCCGGGTACAGTGGCTCACATCTGTAATCCCAAGC ACTTTGGGAGGAGGAGGCGGGTGGACCACCTGAGATCAGGAGTTCGAGAC CAGCCTGGCCAACATGGAGAAACCTCCTCTCTACTAAAAGTACAAAAATT TAGCCAGGCATAGTGGCGCACACCTATAGTCCCAGCTACTCCAGAGGCTG AGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAG ATCACGGTACTGCACTCCAGCCTGGGTGACCAAGTGAGACTCTGTCTCAA AAAGAAAAAAATTATCACCATTATGAAGGCAATCAAAGAAAATCAGTCAA AAATATAGGGAAAAAGTATGCAGGTGTAGCAGACAGGTAGACTATACTAT TAACAAACATAGTATGCCATTTTTCTGAGTTGTCTCATATTTTGACATTT TAGATTTTGTGATTTGATGTGTTTTCTCAGTCCAAAAATCATCCTATGTG TGCCAAATTTTGTATTTTTGTATTTTTTTTTCTAAAGAGTCACAAAGACT CTCTTCTTAACCAAACTTATGAAAGCTCCTCTGAACCCTTTTTTCAACTA GGCTTTGTCCTTGGGACTGCCTTGTCCAGCTGTAGCAAGAATCCTGCTAA GTTGGTTTTGCAAGACTCTTGATATCTGATCGCCTTCACTATCTGATCAA ATTCCCTAGCCCTCACCCTTGGTATCTGATCATGCTGGCCTGCTTTCAGC AAGAATCCTGTTAAGTCAGTTTAGAAAGAATCCCGGTATCTTCAGTGTCT CCTCTTAGTAGTTTTCCGTCCACTAACACACACGGCCAGCCTCCCTCACC TGCTGCACTATGCTTCTTGCCCATAAACCCCCCTGGTCTTTGCTGTATTC CGAGTTGAGCCTGACCTATCTCCATTATTGCACTAGTCTTTTTTTTTTTT TAATTGACTTCTGTTTTTTTCTTCTGAGACGGGGTCTCACTGTGTTGTCC CAGCTGGAGTACAGTGGTGCAACCTTAGCTCACTGCAACCTCCCCCTCCC AGGTACAAGCGATTCTCCTATCTCAGCTTCCTGAGTAGCTGGGAGTACAG GTGCATGCCACCATGCCCAGCTTATTTTTGTATTTTTAGTAAAGATGGGG GTTTCACCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAGGTCATT TCCCTGCCTTGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTG CCTGGCCTGCACTAGTCTTGATACCTGTCTCAGTCATCCTGAATAGTCAA TGTTAACAGGTGTCAGAATAATTTTTTCTTTTTTCTTTTTCTTATTGCAA ATTCTGAACTTTATTCCTCATTTGAACTGTGAAAGTAATTCATCATACCG GCTAGTAGGATCTAAAGATAAAGACTTGATTATGTAGGAAAATGGTATTT TTATCTTTATATTAAAATCTTAATATTAAATTCCCTCTCCTAAAATACAT AGTATGGCTTCTGTTTTCACATCAGCCTTAACTAATTAAATCTCAAGAGA TGAATAAGTGAGCATTGGGTGATTTCAAATCCCTTTATGATATAATTCAT AGCCAACTAGAAATTCTCTTTAGAGAATTTCCCAAACAAGATAAAGGGTG TCTTCAGCAAACATCATATACCTAATGAAGTAGCTTCAGGTCCTAGCATA ATAAGGCAATAAAAATAAGCAAAAGGTACAGCAATTACAATGAAATTTTA ACAGAGGTCTTTATCAATGACATGACTGCACATATAGAAAAATCCAGGCT AAGCGTGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCA GGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAA ACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAAC CTGGGAGGTGGAGCTTGCAGTGAGTGGAGATCACACCACTGCACTCCAGC CTGGGCGACAGAGCGACACTCCATCTCAAAAAAAAAAAAAGAAAAATCCA AAAGTATATACGGATACATTTGAAGCCTTAATAAAATATTTGCAAGACAG CCAGAGATTAATCAAATTACAAAATCAGTTGTCTTTCCACATCACAGTAA TAAAAATGGAATTTTATAAAAATGCCATTGACAAAAGCTTCAAAAATTAT GATATAATTTATCAATATCAAAAAATATGATATAATTTTTGAATATATGG AATATATCTAACTATTAGAGATGTATCTAACAAAAATATGTATATGTCAC CTCTATGGAGGAAATTATAAATCTGTATTCAAGGACATTAAAGATGTAAA TAGGCTGGGCGCAGTGGCTCACGCCTGTAATGCCAACACTTTGGGAGGCC GAGGCGTGTGGATCACCTGAGGTCAGGAGTTCGAGACCACCCTGGCCAAC CTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGT GGCAGGCACCTGTAGTCCCAGCTACTCAGTAGGCCAAGGCAGGAGAATCA CTTGAACCTGAGAGATGGAGGTTGCAGTGAGTCGAGATTGCACTATTGCA CTCCAGCCTGGGCGACAGACCAAGACTCCGTCTCAAGAAAATAAATAAAT AAAAAATAAATAAATCAAGATGTAAATAAACTGAAAAAGAGGCCATGTTG ATGAGTTTGAGAACAATATTGTATGAATGCCAATTTTACCCAACAATCTA CAGCATCAAAGGAATATGTCATACAATCTCCCGGGTGATTTTTGTGCAAT TTGGTAACTCTATTGTAAAATTTATACTGAAGTAGAAATGTTCAAGTATG GTCAAGGCAACCATGAAGAACAATGAATGGCTTTGCAAGATAAAAAGATG TATCATAACATTACAGAAAATATGACCATTTCAGACGGGGCACAGTGGCT CACATCTGTAATCCCCGCACTTTAGGAGGCCGAGGCAGATGGATCACTTA AGGTCAGGAGTTTGAAAGCAGCCTGACCAACATGGTGAAACCCTGTCTCT ACTAAAAAATAACAAAAATTAGCTGGGCATCGTGGCATGTGCCTGTAATC TCAGCTGCTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGAGGTG GAGGTTGCAGTGAGCTAAGATTGTGCCACTGCATTCCACCCAGGGTGACA GAGTGAGACTGTCTCAAATTTTTAAAAATGTGAGAAAATAGGCCCATTTC AATGGTTCACACCTGTAATACCAGCGCTATGGGAGACCGAGGCAGAAGGA TTACTTGAGCCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGACACCC CATCTGTACAAAAAACACAAAAATTAGCTGGGCATGGGTGGCTCATGCCT GTAGTCTCAGCTACTTGAGAGGCTGAGGTGGGAGGATCACTTGAGCCCAG GAGGTGGAGGTTGCAGTGAGCCAAGATTGCAGCACTGCACTCCATCCAAG GTGACAAAGTGACACAGTGAGACCTTGTCTGAAAAAAAAAAGTGACAATT ATGTATTGACCAAGTGGAACAAAATTGAGTGCCTGGAAATAGACCTCAAC CACAGGAAACATCAAGTGTGATAGAGGAAGTGGCAAATAATAAATTTTTC TTTTTATTTATTTTGGGTTTTTATTTATTTAATTTTTTTTGAGACAGTGT CTCTGTCACCTAGGATGGAGTACAATGGTG	C C	exon_loss_variant exon_loss_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00438.hp2 others(29): Show HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG01243.hp1 HG01516.hp2 HG02074.hp1 HG02145.hp1 HG02683.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03453.hp2 HG03704.hp1 HG03942.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18950.hp2 NA18953.hp2 NA18961.hp2 NA18970.hp2 NA18971.hp1 NA18993.hp1 NA19043.hp1 NA19055.hp1 NA19072.hp1 NA19091.hp2 NA20752.hp1	a0005 a0005	a0005c0008 a0005c0014 a0005c0015 others(4): Show a0005c0008 a0005c0014 a0005c0015 a0005c0024 a0005c0028 a0005c0055 a0005c0056	a0005c0008t0003 a0005c0014t0003 a0005c0014t0009 others(8): Show a0005c0008t0003 a0005c0014t0003 a0005c0014t0009 a0005c0014t0014 a0005c0015t0003 a0005c0015t0009 a0005c0024t0003 a0005c0028t0003 a0005c0028t0023 a0005c0055t0014 a0005c0056t0024	a0005c0008t0003g0020 a0005c0008t0003g0021 a0005c0008t0003g0065 others(27): Show a0005c0008t0003g0020 a0005c0008t0003g0021 a0005c0008t0003g0065 a0005c0008t0003g0066 a0005c0008t0003g0068 a0005c0008t0003g0069 a0005c0008t0003g0070 a0005c0008t0003g0071 a0005c0008t0003g0072 a0005c0008t0003g0073 a0005c0008t0003g0074 a0005c0008t0003g0075 a0005c0014t0003g0081 a0005c0014t0003g0083 a0005c0014t0003g0084 a0005c0014t0003g0086 a0005c0014t0009g0064 a0005c0014t0014g0085 a0005c0015t0003g0059 a0005c0015t0003g0060 a0005c0015t0009g0067 a0005c0015t0009g0078 a0005c0015t0009g0080 a0005c0024t0003g0061 a0005c0024t0003g0062 a0005c0024t0003g0079 a0005c0028t0003g0077 a0005c0028t0023g0076 a0005c0055t0014g0063 a0005c0056t0024g0082	32	414	0.0773	-5579	c.-50 others(12): Show c.-5066_421+10del		SIGLEC5	ENSG00000268500.7	transcript	ENST00000683636.1	protein_coding	2/9					chr19	TogoVar
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
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
SLC22A31_chr16_89190761_89205537	89198106	GGGGCCCC others(11): Show GGGGCCCCAAGCTCACACT	G G	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(28): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00673.hp1 HG01928.hp1 HG01978.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02155.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18952.hp2 NA18961.hp2 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19077.hp2 NA19083.hp1 NA20905.hp1	a0004 a0017 a0004 a0017	a0004c0006 a0004c0009 a0017c0022 a0004c0006 a0004c0009 a0017c0022	a0004c0006t0001 a0004c0009t0001 a0017c0022t0001 a0004c0006t0001 a0004c0009t0001 a0017c0022t0001	a0004c0006t0001g0006 a0004c0006t0001g0029 a0004c0009t0001g0008 others(1): Show a0004c0006t0001g0006 a0004c0006t0001g0029 a0004c0009t0001g0008 a0017c0022t0001g0028	31	428	0.0724	-18	c.920 others(28): Show c.920_922+15delAGTGTGAGCTTGGGGCCC	p.Gln others(19): Show p.Gln307_Tyr308delinsHis	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding	7/9		920/1341	307/446		chr16	TogoVar
SLC6A18_chr5_1220381_1251189	1240642	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0006 a0007 others(4): Show a0001 a0006 a0007 a0008 a0010 a0013 a0015	a0001c0002 a0001c0005 a0001c0009 others(16): Show a0001c0002 a0001c0005 a0001c0009 a0001c0016 a0001c0029 a0001c0041 a0006c0008 a0006c0021 a0006c0045 a0006c0046 a0006c0047 a0006c0048 a0007c0007 a0008c0015 a0008c0022 a0008c0050 a0010c0012 a0013c0018 a0015c0024	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 a0001c0009t0002 a0001c0016t0001 a0001c0029t0002 a0001c0041t0004 a0006c0008t0003 a0006c0008t0004 a0006c0021t0004 a0006c0045t0003 a0006c0046t0004 a0006c0047t0004 a0006c0048t0004 a0007c0007t0002 a0008c0015t0004 a0008c0022t0003 a0008c0022t0004 a0008c0050t0004 a0010c0012t0003 a0010c0012t0004 a0013c0018t0004 a0015c0024t0002	a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 others(157): Show a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0071 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0108 a0001c0002t0001g0129 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0157 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0001g0310 a0001c0002t0001g0326 a0001c0002t0001g0342 a0001c0002t0001g0393 a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0038 a0001c0002t0002g0042 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0089 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0105 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0135 a0001c0002t0002g0145 a0001c0002t0002g0150 a0001c0002t0002g0153 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0283 a0001c0002t0002g0286 a0001c0002t0002g0308 a0001c0002t0002g0322 a0001c0002t0002g0325 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0352 a0001c0002t0002g0365 a0001c0002t0002g0374 a0001c0002t0002g0388 a0001c0002t0002g0389 a0001c0005t0001g0152 a0001c0005t0002g0005 a0001c0005t0002g0006 a0001c0005t0002g0025 a0001c0005t0002g0103 a0001c0005t0002g0116 a0001c0005t0002g0117 a0001c0005t0002g0119 a0001c0005t0002g0120 a0001c0005t0002g0121 a0001c0005t0002g0315 a0001c0005t0002g0349 a0001c0005t0002g0350 a0001c0005t0002g0351 a0001c0005t0002g0353 a0001c0005t0002g0362 a0001c0005t0002g0369 a0001c0009t0001g0137 a0001c0009t0002g0047 a0001c0009t0002g0139 a0001c0009t0002g0141 a0001c0009t0002g0146 a0001c0009t0002g0147 a0001c0009t0002g0148 a0001c0009t0002g0159 a0001c0009t0002g0160 a0001c0009t0002g0161 a0001c0016t0001g0001 a0001c0016t0001g0069 a0001c0016t0001g0348 a0001c0016t0001g0368 a0001c0029t0002g0276 a0001c0041t0004g0296 a0006c0008t0003g0179 a0006c0008t0003g0213 a0006c0008t0003g0215 a0006c0008t0003g0226 a0006c0008t0003g0228 a0006c0008t0003g0230 a0006c0008t0003g0246 a0006c0008t0004g0192 a0006c0008t0004g0194 a0006c0008t0004g0225 a0006c0008t0004g0233 a0006c0021t0004g0184 a0006c0021t0004g0185 a0006c0021t0004g0186 a0006c0045t0003g0008 a0006c0046t0004g0188 a0006c0047t0004g0238 a0006c0048t0004g0229 a0007c0007t0002g0012 a0007c0007t0002g0013 a0007c0007t0002g0014 a0007c0007t0002g0021 a0007c0007t0002g0049 a0007c0007t0002g0070 a0007c0007t0002g0072 a0007c0007t0002g0073 a0007c0007t0002g0074 a0007c0007t0002g0084 a0007c0007t0002g0341 a0007c0007t0002g0363 a0007c0007t0002g0364 a0008c0015t0004g0248 a0008c0015t0004g0253 a0008c0015t0004g0254 a0008c0015t0004g0255 a0008c0015t0004g0257 a0008c0022t0003g0256 a0008c0022t0003g0259 a0008c0022t0004g0261 a0008c0050t0004g0264 a0010c0012t0003g0032 a0010c0012t0003g0240 a0010c0012t0003g0241 a0010c0012t0003g0242 a0010c0012t0004g0239 a0010c0012t0004g0243 a0013c0018t0004g0031 a0013c0018t0004g0214 a0013c0018t0004g0227 a0015c0024t0002g0011	181	456	0.3969	0	c.957 others(3): Show c.957C>G	p.Tyr others(4): Show p.Tyr319*	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	7/12	1054/2095	957/1887	319/628		chr5	TogoVar
SLC7A13_chr8_86209063_86235381	86214405	TCCGACAT others(1): Show TCCGACATC	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00438.hp1 HG00544.hp1 HG01070.hp1 others(92): Show HG00438.hp1 HG00544.hp1 HG01070.hp1 HG01074.hp1 HG01255.hp2 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18988.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1	a0000 a0000	a0000c0002 a0000c0015 a0000c0024 a0000c0002 a0000c0015 a0000c0024	a0000c0002t0002 a0000c0015t0002 a0000c0024t0002 a0000c0002t0002 a0000c0015t0002 a0000c0024t0002	a0000c0002t0002g0002 a0000c0002t0002g0008 a0000c0002t0002g0012 others(18): Show a0000c0002t0002g0002 a0000c0002t0002g0008 a0000c0002t0002g0012 a0000c0002t0002g0024 a0000c0002t0002g0026 a0000c0002t0002g0035 a0000c0002t0002g0036 a0000c0002t0002g0037 a0000c0002t0002g0087 a0000c0002t0002g0088 a0000c0002t0002g0089 a0000c0002t0002g0090 a0000c0002t0002g0091 a0000c0002t0002g0092 a0000c0002t0002g0094 a0000c0002t0002g0095 a0000c0002t0002g0096 a0000c0002t0002g0097 a0000c0002t0002g0117 a0000c0015t0002g0054 a0000c0024t0002g0134	95	428	0.2220	-8	c.141 others(15): Show c.1413_*7delGATGTCGG	p.Ter others(5): Show p.Ter471fs	SLC7A13	ENSG00000164893.9	transcript	ENST00000297524.8	protein_coding	4/4	1524/1867	1413/1413	471/470		chr8	TogoVar
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
SMAD5_chr5_136127845_136187733	136147819	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18994.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 others(108): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0036 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0001t0003g0138 a0001c0001t0005g0028 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0006g0010 a0001c0001t0006g0103 a0001c0001t0006g0106 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0007g0001 a0001c0001t0007g0070 a0001c0001t0010g0158 a0001c0001t0011g0024 a0001c0001t0011g0125 a0001c0001t0013g0067 a0001c0001t0013g0072 a0001c0001t0013g0078 a0001c0001t0014g0071 a0001c0001t0014g0136 a0001c0001t0014g0137 a0001c0001t0015g0021 a0001c0001t0015g0079 a0001c0001t0016g0080 a0001c0001t0016g0081 a0001c0001t0017g0073 a0001c0001t0017g0075 a0001c0001t0018g0013 a0001c0001t0020g0123 a0001c0001t0026g0007 a0001c0001t0027g0122 a0001c0001t0028g0066 a0001c0001t0029g0065 a0001c0001t0030g0001 a0001c0001t0031g0108 a0001c0001t0032g0074	140	294	0.4762	1	c.-24 others(7): Show c.-244-3dupT		SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	1/7				INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX27_chr1_151607050_151704080	151692406	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(67): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02165.hp2 HG02273.hp1 HG02602.hp2 HG02622.hp1 HG02886.hp1 HG02886.hp2 HG03239.hp1 HG03492.hp1 HG03688.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18940.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19043.hp2 NA19064.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(38): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0021 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0059 a0001c0001t0076 a0001c0001t0085 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0122 a0001c0001t0125 a0001c0001t0128 a0001c0001t0131 a0002c0002t0006 a0002c0002t0048	a0001c0001t0001g0136 a0001c0001t0003g0099 a0001c0001t0003g0141 others(65): Show a0001c0001t0001g0136 a0001c0001t0003g0099 a0001c0001t0003g0141 a0001c0001t0004g0184 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0154 a0001c0001t0006g0001 a0001c0001t0006g0188 a0001c0001t0007g0214 a0001c0001t0007g0216 a0001c0001t0007g0233 a0001c0001t0007g0255 a0001c0001t0009g0202 a0001c0001t0009g0224 a0001c0001t0009g0232 a0001c0001t0010g0221 a0001c0001t0010g0227 a0001c0001t0010g0229 a0001c0001t0010g0280 a0001c0001t0010g0358 a0001c0001t0011g0264 a0001c0001t0014g0194 a0001c0001t0014g0212 a0001c0001t0021g0143 a0001c0001t0029g0205 a0001c0001t0029g0273 a0001c0001t0030g0198 a0001c0001t0030g0210 a0001c0001t0030g0258 a0001c0001t0033g0213 a0001c0001t0033g0254 a0001c0001t0034g0211 a0001c0001t0034g0225 a0001c0001t0034g0241 a0001c0001t0040g0249 a0001c0001t0040g0252 a0001c0001t0046g0190 a0001c0001t0047g0191 a0001c0001t0047g0193 a0001c0001t0049g0236 a0001c0001t0049g0237 a0001c0001t0050g0207 a0001c0001t0050g0234 a0001c0001t0051g0215 a0001c0001t0051g0272 a0001c0001t0052g0238 a0001c0001t0053g0230 a0001c0001t0059g0251 a0001c0001t0076g0186 a0001c0001t0085g0346 a0001c0001t0098g0187 a0001c0001t0099g0101 a0001c0001t0100g0247 a0001c0001t0102g0341 a0001c0001t0106g0239 a0001c0001t0107g0271 a0001c0001t0108g0201 a0001c0001t0110g0256 a0001c0001t0111g0222 a0001c0001t0122g0231 a0001c0001t0125g0204 a0001c0001t0128g0226 a0001c0001t0131g0242 a0002c0002t0006g0002 a0002c0002t0006g0197 a0002c0002t0006g0250 a0002c0002t0048g0218	70	366	0.1913	2	c.124 others(15): Show c.1240-4_1240-3dupTT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	8/11				INFO_REALIGN_3_PRIME	chr1	TogoVar
SPANXB1_chrX_140997594_141008706	141002734	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18961.hp1 NA18961.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0010 a0006c0006t0006g0010	1	301	0.0033	-1	c.45d others(3): Show c.45delC	p.Cys others(4): Show p.Cys16fs	SPANXB1	ENSG00000227234.2	transcript	ENST00000449283.2	protein_coding	1/2	145/466	45/312	15/103	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPATA21_chr1_16393643_16442424	16398776	G G	A A	stop_gained stop_gained	HIGH	NA18940.hp2 NA18945.hp1 NA18961.hp2 others(6): Show NA18940.hp2 NA18945.hp1 NA18961.hp2 NA18982.hp1 NA18985.hp2 NA19000.hp2 NA19010.hp1 NA19065.hp1 NA19085.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0002 a0006c0006t0001 a0006c0006t0002	a0006c0006t0001g0120 a0006c0006t0002g0276 a0006c0006t0002g0277 others(6): Show a0006c0006t0001g0120 a0006c0006t0002g0276 a0006c0006t0002g0277 a0006c0006t0002g0278 a0006c0006t0002g0280 a0006c0006t0002g0281 a0006c0006t0002g0282 a0006c0006t0002g0295 a0006c0006t0002g0297	9	352	0.0256	0	c.139 others(4): Show c.1399C>T	p.Arg others(4): Show p.Arg467*	SPATA21	ENSG00000187144.11	transcript	ENST00000335496.5	protein_coding	13/13	1882/2015	1399/1410	467/469		chr1	TogoVar
SPON2_chr4_1161932_1177583	1171887	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG01074.hp1 HG01257.hp2 HG01978.hp2 others(15): Show HG01074.hp1 HG01257.hp2 HG01978.hp2 HG02300.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA18959.hp2 NA18961.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18985.hp1 NA19000.hp2 NA19030.hp1 NA19074.hp1 NA19080.hp1 NA19086.hp1	a0004 a0006 a0004 a0006	a0004c0006 a0004c0009 a0004c0012 others(4): Show a0004c0006 a0004c0009 a0004c0012 a0004c0015 a0004c0016 a0004c0017 a0006c0022	a0004c0006t0001 a0004c0009t0001 a0004c0012t0001 others(4): Show a0004c0006t0001 a0004c0009t0001 a0004c0012t0001 a0004c0015t0001 a0004c0016t0003 a0004c0017t0001 a0006c0022t0001	a0004c0006t0001g0010 a0004c0006t0001g0017 a0004c0009t0001g0024 others(6): Show a0004c0006t0001g0010 a0004c0006t0001g0017 a0004c0009t0001g0024 a0004c0009t0001g0040 a0004c0012t0001g0039 a0004c0015t0001g0049 a0004c0016t0003g0073 a0004c0017t0001g0072 a0006c0022t0001g0030	18	432	0.0417	1	c.184 others(4): Show c.184dupC	p.Leu others(4): Show p.Leu62fs	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding	2/6	227/1579	184/996	62/331		chr4	TogoVar
SPSB2_chr12_6865935_6878303	6872998	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00544.hp2 HG00609.hp2 others(74): Show HG00423.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00741.hp2 HG01243.hp1 HG01891.hp2 HG01943.hp2 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18961.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19062.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0003g0003 a0001c0001t0004g0009 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0003t0001g0010 a0002c0002t0001g0008 a0002c0002t0001g0015	77	398	0.1935	0	c.-96 others(5): Show c.-96-1G>A		SPSB2	ENSG00000111671.10	transcript	ENST00000524270.6	protein_coding	1/2					chr12	TogoVar
SRSF3_chr6_36589362_36610600	36601940	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(95): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18992.hp2 NA18994.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19080.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0035 a0001c0001t0036 a0001c0001t0043 a0001c0001t0045 a0001c0003t0002	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0051 others(85): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0209 a0001c0001t0003g0031 a0001c0001t0003g0092 a0001c0001t0003g0108 a0001c0001t0012g0164 a0001c0001t0012g0173 a0001c0001t0015g0069 a0001c0001t0015g0071 a0001c0001t0017g0128 a0001c0001t0017g0129 a0001c0001t0019g0078 a0001c0001t0022g0167 a0001c0001t0023g0074 a0001c0001t0025g0190 a0001c0001t0026g0165 a0001c0001t0027g0146 a0001c0001t0028g0161 a0001c0001t0035g0079 a0001c0001t0036g0080 a0001c0001t0043g0117 a0001c0001t0045g0192 a0001c0003t0002g0036 a0001c0003t0002g0176	98	382	0.2565	1	c.468 others(6): Show c.468-3dupT		SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	5/5				INFO_REALIGN_3_PRIME	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
TEX26_chr13_30927656_30980500	30956872	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18978.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19058.hp1 NA19064.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(88): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0269 a0001c0001t0001g0279 a0001c0001t0001g0289 a0001c0001t0001g0302 a0001c0001t0001g0343 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0005t0001g0059	102	414	0.2464	0	c.313 others(5): Show c.313-1G>A		TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding	3/6					chr13	TogoVar
TEX44_chr2_231587864_231599276	231593752	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 NA18956.hp1 NA18961.hp2 others(10): Show HG00438.hp1 NA18956.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18971.hp2 NA18983.hp1 NA19000.hp2 NA19007.hp1 NA19068.hp1 NA19075.hp1 NA19085.hp2 NA19089.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	13	438	0.0297	1	c.801 others(8): Show c.801_802insC	p.Glu others(5): Show p.Glu268fs	TEX44	ENSG00000177673.4	transcript	ENST00000313965.4	protein_coding	1/1	890/1413	802/1188	268/395		chr2	TogoVar
TLR8_chrX_12901620_12928169	12906707	A A	G G	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0009 a0010	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0015 a0001c0016 a0001c0017 a0001c0024 a0004c0014 a0005c0018 a0009c0023 a0010c0022	a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 others(13): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 a0001c0004t0014 a0001c0007t0002 a0001c0007t0004 a0001c0007t0009 a0001c0011t0003 a0001c0015t0005 a0001c0016t0001 a0001c0017t0001 a0001c0024t0001 a0004c0014t0001 a0005c0018t0007 a0009c0023t0001 a0010c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0008g0001 a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0009 a0001c0004t0001g0065 a0001c0004t0001g0071 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0014g0003 a0001c0007t0002g0013 a0001c0007t0002g0025 a0001c0007t0002g0028 a0001c0007t0004g0010 a0001c0007t0004g0039 a0001c0007t0009g0010 a0001c0011t0003g0019 a0001c0011t0003g0055 a0001c0011t0003g0066 a0001c0015t0005g0037 a0001c0015t0005g0067 a0001c0016t0001g0027 a0001c0017t0001g0001 a0001c0024t0001g0011 a0004c0014t0001g0056 a0004c0014t0001g0057 a0004c0014t0001g0058 a0005c0018t0007g0059 a0005c0018t0007g0073 a0009c0023t0001g0001 a0010c0022t0001g0074	165	303	0.5446	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	TLR8	ENSG00000101916.12	transcript	ENST00000218032.7	protein_coding	1/2	88/4216	1/3126	1/1041		chrX	TogoVar
TMEM216_chr11_61387587_61403846	61398269	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(173): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0002c0004 a0003c0003 a0004c0007	a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 a0001c0006t0001 a0002c0004t0001 a0003c0003t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0008g0001 a0001c0005t0001g0001 a0001c0006t0001g0001 a0002c0004t0001g0020 a0003c0003t0001g0001 a0004c0007t0001g0001	176	270	0.6519	0	c.432 others(5): Show c.432-1G>C		TMEM216	ENSG00000187049.11	transcript	ENST00000515837.7	protein_coding	4/4					chr11	TogoVar
TMEM216_chr11_61387587_61403846	61398269	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	270	0.0037	0	c.432 others(5): Show c.432-1G>T		TMEM216	ENSG00000187049.11	transcript	ENST00000515837.7	protein_coding	4/4					chr11	TogoVar
TMPRSS3_chr21_42366890_42401052	42383199	C C	CTA CTA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show HG00408.hp1 HG00408.hp2 HG00621.hp2 HG01070.hp2 HG01123.hp2 HG01175.hp1 HG01255.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02486.hp1 HG02602.hp2 HG02818.hp1 HG02818.hp2 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19072.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0011	a0001c0001 a0002c0003 a0002c0007 others(6): Show a0001c0001 a0002c0003 a0002c0007 a0004c0006 a0006c0010 a0006c0015 a0006c0022 a0007c0011 a0011c0027	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(16): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0017 a0002c0007t0001 a0002c0007t0002 a0002c0007t0006 a0004c0006t0001 a0004c0006t0002 a0004c0006t0004 a0004c0006t0010 a0006c0010t0002 a0006c0010t0013 a0006c0015t0003 a0006c0022t0006 a0007c0011t0001 a0011c0027t0002	a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 others(80): Show a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 a0002c0003t0001g0017 a0002c0003t0001g0022 a0002c0003t0001g0032 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0053 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0094 a0002c0003t0001g0096 a0002c0003t0001g0109 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0138 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0166 a0002c0003t0001g0175 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0186 a0002c0003t0001g0212 a0002c0003t0001g0215 a0002c0003t0001g0242 a0002c0003t0001g0245 a0002c0003t0001g0250 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0271 a0002c0003t0001g0273 a0002c0003t0001g0283 a0002c0003t0001g0288 a0002c0003t0001g0296 a0002c0003t0001g0299 a0002c0003t0002g0023 a0002c0003t0002g0028 a0002c0003t0002g0079 a0002c0003t0002g0110 a0002c0003t0002g0149 a0002c0003t0002g0152 a0002c0003t0002g0232 a0002c0003t0002g0246 a0002c0003t0002g0253 a0002c0003t0002g0276 a0002c0003t0002g0279 a0002c0003t0003g0142 a0002c0003t0003g0297 a0002c0003t0004g0241 a0002c0003t0004g0278 a0002c0003t0017g0141 a0002c0007t0001g0210 a0002c0007t0001g0236 a0002c0007t0002g0344 a0002c0007t0002g0350 a0002c0007t0006g0261 a0002c0007t0006g0351 a0004c0006t0001g0309 a0004c0006t0001g0316 a0004c0006t0001g0324 a0004c0006t0001g0327 a0004c0006t0001g0342 a0004c0006t0002g0317 a0004c0006t0004g0001 a0004c0006t0004g0285 a0004c0006t0004g0301 a0004c0006t0004g0303 a0004c0006t0010g0047 a0006c0010t0002g0368 a0006c0010t0002g0369 a0006c0010t0013g0377 a0006c0015t0003g0061 a0006c0015t0003g0062 a0006c0022t0006g0072 a0007c0011t0001g0035 a0007c0011t0001g0353 a0011c0027t0002g0376	102	472	0.2161	2	c.617 others(13): Show c.617-3_617-2dupTA		TMPRSS3	ENSG00000160183.17	transcript	ENST00000644384.2	protein_coding	7/12					chr21	TogoVar
TMPRSS6_chr22_37060436_37114713	37069345	CTGGGG CTGGGG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00733.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18987.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19074.hp1 NA19077.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0005 a0001c0006 a0001c0009 others(21): Show a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0015 a0001c0034 a0001c0038 a0001c0039 a0001c0047 a0001c0054 a0001c0072 a0001c0077 a0002c0001 a0002c0012 a0002c0014 a0002c0016 a0002c0019 a0002c0061 a0002c0062 a0003c0029 a0004c0044 a0004c0060 a0004c0066 a0005c0025	a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 others(22): Show a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0009t0001 a0001c0013t0001 a0001c0015t0001 a0001c0034t0001 a0001c0038t0001 a0001c0039t0001 a0001c0047t0001 a0001c0054t0001 a0001c0072t0001 a0001c0077t0001 a0002c0001t0001 a0002c0012t0001 a0002c0014t0001 a0002c0016t0001 a0002c0019t0001 a0002c0061t0001 a0002c0062t0001 a0003c0029t0001 a0004c0044t0001 a0004c0060t0001 a0004c0066t0001 a0005c0025t0001	a0001c0005t0001g0082 a0001c0005t0001g0120 a0001c0005t0001g0121 others(118): Show a0001c0005t0001g0082 a0001c0005t0001g0120 a0001c0005t0001g0121 a0001c0005t0001g0153 a0001c0005t0001g0203 a0001c0005t0001g0233 a0001c0005t0001g0250 a0001c0005t0001g0256 a0001c0005t0001g0279 a0001c0005t0002g0007 a0001c0005t0002g0320 a0001c0005t0002g0336 a0001c0005t0002g0340 a0001c0006t0001g0088 a0001c0006t0001g0089 a0001c0006t0001g0101 a0001c0006t0001g0102 a0001c0006t0001g0115 a0001c0006t0001g0123 a0001c0006t0001g0124 a0001c0006t0001g0128 a0001c0006t0001g0130 a0001c0006t0001g0131 a0001c0006t0001g0134 a0001c0006t0001g0145 a0001c0006t0001g0164 a0001c0006t0001g0302 a0001c0009t0001g0001 a0001c0009t0001g0031 a0001c0009t0001g0048 a0001c0009t0001g0052 a0001c0009t0001g0063 a0001c0013t0001g0060 a0001c0015t0001g0166 a0001c0015t0001g0168 a0001c0015t0001g0169 a0001c0015t0001g0170 a0001c0015t0001g0173 a0001c0015t0001g0174 a0001c0034t0001g0167 a0001c0034t0001g0171 a0001c0038t0001g0308 a0001c0039t0001g0267 a0001c0047t0001g0068 a0001c0054t0001g0129 a0001c0072t0001g0023 a0001c0077t0001g0175 a0002c0001t0001g0003 a0002c0001t0001g0008 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0106 a0002c0001t0001g0165 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0183 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0197 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0226 a0002c0001t0001g0238 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0257 a0002c0001t0001g0258 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0262 a0002c0001t0001g0271 a0002c0001t0001g0275 a0002c0001t0001g0293 a0002c0001t0001g0298 a0002c0001t0001g0301 a0002c0012t0001g0184 a0002c0012t0001g0185 a0002c0012t0001g0201 a0002c0012t0001g0213 a0002c0014t0001g0004 a0002c0014t0001g0290 a0002c0016t0001g0036 a0002c0019t0001g0035 a0002c0019t0001g0037 a0002c0019t0001g0061 a0002c0019t0001g0062 a0002c0061t0001g0281 a0002c0062t0001g0190 a0003c0029t0001g0125 a0003c0029t0001g0126 a0004c0044t0001g0313 a0004c0060t0001g0263 a0004c0066t0001g0080 a0005c0025t0001g0025 a0005c0025t0001g0026 a0005c0025t0001g0094	125	348	0.3592	-5	c.184 others(18): Show c.1842-6_1842-2delCCCCA		TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	15/17					chr22	TogoVar
TNIP1_chr5_151024945_151086034	151033665	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00597.hp1 HG00639.hp1 HG00673.hp2 others(22): Show HG00597.hp1 HG00639.hp1 HG00673.hp2 HG01109.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp2 HG02602.hp1 HG02647.hp1 HG02809.hp2 HG03098.hp1 HG03195.hp1 HG03471.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 NA18961.hp1 NA18964.hp2 NA18977.hp2 NA18998.hp1 NA19004.hp2 NA19054.hp1 NA19083.hp1	a0003 a0010 a0013 others(2): Show a0003 a0010 a0013 a0017 a0018	a0003c0003 a0003c0009 a0010c0024 others(4): Show a0003c0003 a0003c0009 a0010c0024 a0010c0025 a0013c0015 a0017c0022 a0018c0018	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0009t0002 a0010c0024t0001 a0010c0025t0002 a0013c0015t0004 a0017c0022t0007 a0018c0018t0002	a0003c0003t0001g0067 a0003c0003t0001g0100 a0003c0003t0001g0207 others(22): Show a0003c0003t0001g0067 a0003c0003t0001g0100 a0003c0003t0001g0207 a0003c0003t0001g0241 a0003c0003t0001g0246 a0003c0003t0001g0250 a0003c0003t0001g0271 a0003c0003t0001g0287 a0003c0003t0001g0321 a0003c0003t0001g0324 a0003c0003t0002g0121 a0003c0003t0002g0158 a0003c0003t0002g0198 a0003c0003t0003g0036 a0003c0003t0003g0134 a0003c0003t0003g0165 a0003c0003t0003g0327 a0003c0009t0002g0110 a0003c0009t0002g0339 a0003c0009t0002g0340 a0010c0024t0001g0082 a0010c0025t0002g0049 a0013c0015t0004g0086 a0017c0022t0007g0219 a0018c0018t0002g0038	25	402	0.0622	1	c.172 others(5): Show c.1721dupC	p.Pro others(5): Show p.Pro575fs	TNIP1	ENSG00000145901.16	transcript	ENST00000521591.6	protein_coding	16/18	1912/2870	1721/1911	574/636		chr5	TogoVar
TPSAB1_chr16_1235705_1247554	1240154	CTGACAAA others(5123): Show CTGACAAAGGGGTCTCACGTGAGCCCCCAACCAAGTGAGTCGAGGAGGGC TGGCCCCACCCCCGTGGATTCGGAGTCCGTAGGAGGGGTGTCACCCGTCA TGTCCCCACCCCGTGGGCACCTTCCCGTCTCTTGGAGCGTGGCCCATGGA CATGAGTTCCTCACCCGTGTCCCTCTTGGGGAAACAGGTTTCAGGAGCGA CGGGTCTTGTAGCCTGGGGCAGCCAGGCCACCTGGGTGCAGCAATGCCTG AAGGCCTCCTGGCACCGAGACAGGGGCAGGAGCAGATCCCACCAGCGGGA AGGTGGTGGGTTCCAGTGCTGGGATCCACCAGCTGACAGGTGGAGCTGCC AGTCTCCAGTGCTCAGCCCTCAGCGGGGCCTGCCTGGCAGCCCCACACAC AGAGGGCATCGGGGTGGCGGGGGCACGTGTTACACGGGGGCCCTGGGTCT GAGTCATCCACTTCCTCCGAGTCTGGATGGGAGGACCCAGCGCCCCTCCT CCGCCCCCTCCTGATCTGGAAGGATAAATGGGGAGGGGAGAGCCCACTGG GTAGAAGGAACAGGGAGCGGCCAGGGTAAGTCCCCACTCTCAGAGACCCT GACATCAGCGTCACCTGGAGCAGAGTGGCCCAGCCTCAGACTCAGAGCAC CAAGACCCAGGCCCGCAGGCCTGGACCCACCCCGGTCCCCCCGTCCCAGC TCCATTCTTCACCCCACAATCTGTAGCCCCCAGCCCTGCCCTGTGAGGCC CGGCCAGGCCCACGATGCTCCTCCTTGCTCCCCAGATGCTGAATCTGCTG CTGCTGGCGCTGCCCGTCCTGGCGAGCCGCGCCTACGCGGCCCCTGGTGA GTCCCAGCCGGGGTCCACCCTGCCCCTCACCACATTCCACAGGTCAGGGC CTGGGTGGGTTCTGGGGAGGTCGGGCTGGCCCCCACACAGGGAAGGGCTG GGCCCAGGCCTGGGGCTGCTTCCTGGTCCTGACCTGGCACCTGCCCCAGC CCCAGGCCAGGCCCTGCAGCGAGTGGGCATCGTCGGGGGTCAGGAGGCCC CCAGGAGCAAGTGGCCCTGGCAGGTGAGCCTGAGAGTCCACGGCCCATAC TGGATGCACTTCTGCGGGGGCTCCCTCATCCACCCCCAGTGGGTGCTGAC CGCAGCGCACTGCGTGGGACCGTGAGTCTCCCGGGGCCTGGAGGGGTGGG GAAGGGCTGGATGTGAGCCCTGGCTCCCGGGTGCTCCTGGGGGCTGCCCA GGGCCCTGAGTGGGATCCTCCGCTGCCCAGGGACGTCAAGGATCTGGCCG CCCTCAGGGTGCAACTGCGGGAGCAGCACCTCTACTACCAGGACCAGCTG CTGCCGGTCAGCAGGATCATCGTGCACCCACAGTTCTACACCGCCCAGAT CGGAGCGGACATCGCCCTGCTGGAGCTGGAGGAGCCGGTGAACGTCTCCA GCCACGTCCACACGGTCACCCTGCCCCCTGCCTCAGAGACCTTCCCCCCG GGGATGCCGTGCTGGGTCACTGGCTGGGGCGATGTGGACAATGATGGTGG GTCTGGGGACAGTGGAGGTGGGGCCAGGGTCTTAGCCACAGCCCAGCCCC TGGGCTCCCTCTGGGCTCCAGGTGGGGGTTGCCCGGCCCCCTCCTGAGGC TGCACCCTCTTCCCCACCTGCAGAGCGCCTCCCACCGCCATTTCCTCTGA AGCAGGTGAAGGTCCCCATAATGGAAAACCACATTTGTGACGCAAAATAC CACCTTGGCGCCTACACGGGAGACGACGTCCGCATCGTCCGTGACGACAT GCTGTGTGCCGGGAACACCCGGAGGGACTCATGCCAGGTGGGCCCCGCCT GTCCCCCGCCCCCCGCCCCCCAACCCCCACTCCCAGGCCTGTTCGGCGAG CGCTGACCTCTGACCTTCCCAGGGCGACTCCGGAGGGCCCCTGGTGTGCA AGGTGAATGGCACCTGGCTGCAGGCGGGCGTGGTCAGCTGGGGCGAGGGC TGTGCCCAGCCCAACCGGCCTGGCATCTACACCCGTGTCACCTACTACTT GGACTGGATCCACCACTATGTCCCCAAAAAGCCGTGAGTCAGGCCTGGGT TGGCCACCTGGGTCACTGGAGGACCAACCCCTGCTGTCCAAAACACCACT GCTTCCTACCCAGGTGGCGACTGCCCCCCACACCTTCCCTGCCCCGTCCT GAGTGCCCCTTCCTGTCCTAAGCCCCCTGCTCTCTTCTGAGCCCCTTCCC CTGTCCTGAGGACCCTTCCCTATCCTGAGCCCCCTTCCCTGTCCTAAGCC TGACGCCTGCACCGGGCCCTCCAGCCCTCCCCTGCCCAGATAGCTGGTGG TGGGCGCTAATCCTCCTGAGTGCTGGACCTCATTAAAGTGCATGGAAATC ACTGGTGTGCATCGCTGTGTTTCTGGTTGTGGATGTCACTGGGAGAGAAG GGGTCCAGGTGTGCTGAGGACACCTGCCACAGTGTGAGGTCCTAGCCCTC AAGGCACAGCCAGTCACCGTGGGACGGGGCCTCCTGGGCAGCCCTGGTCC CCGAGGCTGGCTTCTCCCCACACGATGCATCCAGCATTCGGGTCACACAG AGCCACTCGGGCAACTCAGTTGATTATAAAGGACAGCCAGGTCCCTGCAA CCGGGTCAAGACAGAGAATGGTCGCCGGGAGCCCCAGGGCTGCCCATCAT GAGCCCCTACCCCACGCTTCCCACGAGCTCTTCTCCCGGCCCCTCTGTCC ACTGCTTGTGCTTTGCCTAGTTGTTTGCTTTGAGACGGGATCTCGCTGTG TCATCCAGGCTGAAGTGCAGTGGTGTGATCAGGGCTCACTGCAGCCTTAA CTCCTGGGCTCAAGCGATCCTCCCATCTTGGCCTCCCATATAGCTGGGCC ACAGGCGTGAGCCACCACGCCCAGTTAATTTTTGTATTTTCAGTAGAGAT GGGGTTTCGCCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCAC CGCACCCGGCCTGAGTTTGACATTTTCAAATTCATTTTGAGGTCTTTCTC TACATCAATAGGTGAGCCCTCTGCGTCTGGCGAGTGTTGCATTTTATCCC GGGCTCTTGTTTGCATTTTTTATTTGAACATGATTACACCCAGGAATGAA ATGCGGGGCTGTTCTGGTTGAAAACAACTCTCTAAAGAAACATTCACTCT TTCCTTCCAACTGTCAGATGCAGAGATGTGCATTTAGTCTCTCCAATCTC TGCAAATGACCTCTGTCCTCACAAGGGGTGGACTCGACTCCCAGCGCCCT CTCCAGCCCCACGTGACCTCTGCCTCTGCAGCCCCTGAAGGCCCATCCCT CGGCTCCTGTTCTGCAGGCCCAGCGTCTTGTCTATGAAGATGGACCTGGA ACTCGGGCCCTCCTTCCTCCCTCTGGCCCATCCCACCTTCTAGGGATCAC AGAGACAGCACGGGGTGACCCCCAGGGAACACTGAGCCCCTAGAAGCACT TCCACACGCCCACTGGAGGTTTTGCGGGGTGGGAGTCGGAGGGATGAGAC CCCGAAGGGAAGCAAGACGGCCCCTCAGGACAGGGCTGCCGGTGTAAGGA AAGGTGGACAGCAGGGGCCGGTCACTGGGTGGAGGGGGAGGGCGGGCTCC AGCCCCAGAGCTTCCCAAATTAGATCTAAGATCCCTGGGAAGCTCAGTGA AGCTCAGCGCAGTGACACTGGCAGATGTGAGCGTCAGCTTCAGCAGGAAG GGTCTCTCAGGACGTGACAGGCAGGCTGCTGGCCAGGGCTGCAGCCACCT GCGTTTTGACTGGGACGGGGACACCTGATCCAAGGTCACCCACGTGGCTG CCGGCAGGAGGCCCTGGTTCCCCGTCACAGGGGGGTGTGAGGGGGAGGGC GAGTGGTGGCGACAGGGTTCCCACCGAGAGGACAGTGCCCAGGTGGCCAG GCCACCGTGGACAGAAGCAATCCCAGGTCTCCCAGGGTCCTGGACAACAG GAGACCCCACCAAGCTGGGGGCAATCACCAGGGCCAGGCCCCCCTCCCGG TTCCTCAGTTGGCTCTCCTGTCCAATGGTGGGGGGGAACGGCACCATGTC ACAGGACTGCTGGGGCTCAGGGGATGGTGCCTGGAGCTTCTTCCTCCCCA GCAGGCCTGCAATCTGGGTCGTGTGGAGCACTCTGCGGGGAGTGGCGTGC TGGGGCACAGGCAGAAAGACGGGGTCCCCAGTGCTGCAGGTGAATTGAGT TGGGACAGGTGAGGGCCCTGAAGTCCCCGCCTGTGGGGACCTGGGGACAG CCCTAGAGGTCAGGACTAGAGGACCTGGTTCCATGAAGACCCTGCCCCTC AGGCTCCCTCCCCACTGGTGACATCGCCCTGTGAGGGGCACCCTGGGCCG GAGACTTGTGACTCAGACCTCGCTCCCTTATGTGGGGTGGGACTGTCCTG CCTCCCCTGAGGCGCCCCCTCCAGGTGTGCGGCTGCCGTGAGGGAGGAGG GTGTCCGGCCGTGGGTGCACTGCTGGCCCCGCATGCTGGTGTTGTCCTTA TTGGTCACCAGGAAAAACACTGAACCTCCAGTTCTGAGCCTTGGCTACCC CACGTGCTGGCGTGCAGACAGCCACGTCTGTGCCCGGGAGGCCACATCCT GGTGGGTGGTCAGGCAACTCCCCCCCACCAGTGCCTCAGTTTCCCCACAT CAAAGAGGGATCCCTGACCTAGAGGGTCTCAGCCGGACCCTCCAGCCTGG CCTGTGATTTGGATCTGGGGAGGGCGGCAGGAAAGTCCTGGGCGCTGCCC AGGGCCCCTAATCAGCTGAGTCATCAGGCTGGGGCAGCCAGGACGGTTAG GAAGGGCCAACCCAGGCTGGGCCGTGAAGCGGTGCCCATCTGATCTGCCG CGCGACCACAGGACCTGCTGCCGGATGTGGGGACAGGGACTTCTCAAAGG GTGGTTGTCACGAGGGCCTGAGCTGTCTCCAAAGGGCTGCTGGGCCTGGA AGTATTTCTGTGTCTTTTTATTTAAAATACACTTATTATTTTAGGACAGG TTTAGATTTATGGAAAAGTTTCGAAGATAGT	C C	transcript_ablation transcript_ablation	HIGH	HG00544.hp2 HG02135.hp2 HG02155.hp2 others(10): Show HG00544.hp2 HG02135.hp2 HG02155.hp2 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18971.hp2 NA18981.hp1 NA18991.hp2 NA19011.hp2 NA19080.hp2 NA19090.hp1 NA19091.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	13	290	0.0448	-5130	c.-57 others(10): Show c.-574_*3044del	p.0? p.0?	TPSAB1	ENSG00000172236.19	transcript	ENST00000338844.8	protein_coding	3/6					chr16	TogoVar
TUBA3E_chr2_130186745_130203439	130197356	ACACACCT others(2467): Show ACACACCTGTAGTACCAGCTACTCGGAAGGCTGAGGCGGGAGGACTGCTG GAAGCCAGGGGTTCAAGGCTGCAGGGAGCCGTGATCTTGCAACTGTGTTC CAGCCTGGGCAACAGAGCATTTATTGAGTGCTGTCTCAAAAAAAAAAAAA AAAGAAAAGAAAAGAAAAAAGAAAAAGAAAGGAAAAAAAGGATAACTGAC AAATCACAGCTATTCAGACTTGGGACTTGGGAATCTGTTATGTTAATGGG CTGCTTTTTTTGTTTGGTTTTTTGAGGCAGGGTCTCTGTGGCCCAGGCTG GAGTGCACTGGCGCCATCACGACTCACTGCAGCCTCAAAGTTCCAGGCTC GGCTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGAACCACAGACTCGC ATCACCATGCCCGGGTAATTTTAGTATTTTTTTGTAGAGACTGGGTTTCG CCATGTTGGTCGGGCTGATCTTGAACTCCAGACATCAGGGGATCCGCCCG CCTCCACCTCCCCAAGGGCTGGGATTCCAGGCGTGAGCCGCCGCGCCTGG CCTAACGGTTGCCTTTAGGTGAACAAGGCAATGTTGCAGCAGCGTCTGAG CCTTAATTCCTCATCTGACCAATGTCCACAGCCCCAACCCCCGTCACCGA AGGCTCCTGCAGCTCCTCAGCTGTTTCCAGTAGCACAAAGACGTGTGAAG CGGGAGCAGCGCCCTCCTGTCTTCAGGAGGCGACGCCACTATTTGCTCTC TGGGGGACGGGATACCGTCAATGGTCCCCGTCCACTAAAGGCCGGCAGCT TCATCTAAAACAAAAGCCGCCGTCCCTGCCCTGGGACCTGCAGATCCAGG AAACGATCCCGTGTCCTCCTGTCCCGCACTAGACCCTGCGTCCTTCTCTG GCCTCCTCTCAGCGCCCAGGCCCGCAACAACGTCCCTCTGTCCACCCGAG GCCAACTTCGTCTGCCTGGGCATCTGCGGGGCGGGAGTGACCCGGGTCTT ACCATGGCGAACTCCGCTGCTTCAGCCCAACGCTACTTCCAGACCTCAAC CGGCTGCCACAGCTGCTGAGCGCCCAACTGCAATGACCTGCCCACGCGCG CCGCACAGGATTGGCCTGCCGGTGCCAGGCCGCCATTGGCTCGGAGTTCC TGGGAGGCAGGCCGAGGGCCGGATCCCAGTTCTGATTGGCCGTTGCTCAA CACGTGTAGTGGGGATGCTCTCTGATTGGATGCAGGATTGGCGGGAAGGC AGCGGGGTCATCAAAGGCTGCGCGGTTGCTGAGGCATTTCCGGGGTGTCT TCCGACCAGGATTGGAACAGCTACTGCGCTGCCTCTGTGGGTCGCGGAAC ATTGCCTTGCTCCCAGTGTGCCACTGCCCCTCCCTGATTGCCCCAGGCCT GCTCCTCTCCCTGCCTAATTCAGATCTTTGCAAACAAGGCCACCTCTGAG AGGCCTTGCCGCCATCTACCCAAGTCACAGCAGCACCGCAATTATCCCCC TCTTCCCTGTTCCCACCCAGCACCCGGGAAGTGGCAGGATTCAATCACTT TTCTGACCCAAAGGGAGAAAACGGGCCGGGCGCGATGGCTAACGCCTGCA ATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAAGAG TTCCCGAGACCAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAA CACAAAAATTACCCTGGCTGGTGGTAGGCACCTGTAATCCCAGCTACACG GGAGGCTGAGGTAGGAGAATCGCTTGAAACTGGGAGGCAGTTGTTGCAGT GAGCCGAGATTGGGCCACAGCACACTCCAGCCTGGGCAACAGAGCCAGAC TCTGTCTCAAAAAAAAAAGGAAGAAAGGAGGCAAAATTAACGTAAGTGGA GAGGTTGGGCCAGGCACACCAGCTCATGCCTGTAATTCCAGTGCTTTGGG AGGCCACGGCAGGAGGATTGCTTCAGGTCAGGAGTTCGAGACCAGCCTGG GCAACGTGGTGAGTCCCACCTTGCCCGTTTCTACAAAAAATAAAATTAGC AAGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATCCCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCA CGCCACTGCACTCAAGCCTGGGTGACAGAGCAAAACTCCATCTTGAAAAA AAAAATAGTTTATTTGGGCCAAGTTTGAGAAGTGCAACCCTGGAGATGCA AGTTGTCTTAAAATATTAGCAGCAGTTATAAGTGGGTTTTTAAAGGAAAA GAAGAGGCAGTTCCTAAGTTGTTTACCAAGAATTTGAAATTAGAGAAGTC TTGCTGTGTTGTCCAGGCTAGTCTTGAACTCCTGACCTGAAGGGATCCTC CTACCTCGGCTGGCCTAGCCTGAGGAATTTATATTAAAATAACGTAAGCT ATTTATTGGGCCAGGCGTGGTGGCT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 others(14): Show a0001c0002 a0001c0005 a0001c0011 a0001c0013 a0001c0015 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042	a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 others(14): Show a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 a0001c0013t0002 a0001c0015t0002 a0001c0031t0002 a0001c0032t0002 a0001c0033t0002 a0001c0034t0002 a0001c0035t0002 a0001c0036t0002 a0001c0037t0002 a0001c0038t0002 a0001c0039t0002 a0001c0040t0002 a0001c0041t0002 a0001c0042t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0033 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0005t0002g0005 a0001c0005t0002g0018 a0001c0005t0002g0034 a0001c0011t0002g0014 a0001c0013t0002g0027 a0001c0013t0002g0041 a0001c0015t0002g0029 a0001c0031t0002g0035 a0001c0032t0002g0036 a0001c0033t0002g0039 a0001c0034t0002g0040 a0001c0035t0002g0042 a0001c0036t0002g0044 a0001c0037t0002g0045 a0001c0038t0002g0047 a0001c0039t0002g0048 a0001c0040t0002g0049 a0001c0041t0002g0050 a0001c0042t0002g0051	177	428	0.4136	-2474	c.-14 others(11): Show c.-1470_4-986del		TUBA3E	ENSG00000152086.9	transcript	ENST00000312988.9	protein_coding	1/5					chr2	TogoVar
TUBB8_chr10_41888_54296	47078	A A	C C	stop_gained stop_gained	HIGH	NA18961.hp1 NA18961.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0008 a0005c0017t0008	a0005c0017t0008g0043 a0005c0017t0008g0043	1	404	0.0025	0	c.131 others(4): Show c.1314T>G	p.Tyr others(4): Show p.Tyr438*	TUBB8	ENSG00000261456.6	transcript	ENST00000568584.6	protein_coding	4/4	1372/1562	1314/1335	438/444		chr10	TogoVar
TUBB8_chr10_41888_54296	47158	C C	A A	stop_gained stop_gained	HIGH	NA18961.hp1 NA18961.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0008 a0005c0017t0008	a0005c0017t0008g0043 a0005c0017t0008g0043	1	404	0.0025	0	c.123 others(4): Show c.1234G>T	p.Glu others(4): Show p.Glu412*	TUBB8	ENSG00000261456.6	transcript	ENST00000568584.6	protein_coding	4/4	1292/1562	1234/1335	412/444		chr10	TogoVar
UNKL_chr16_1358205_1419704	1397263	TCCCCGTG others(80): Show TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTG TCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00438.hp2 HG00733.hp1 HG01934.hp1 others(9): Show HG00438.hp2 HG00733.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG04115.hp2 NA18951.hp1 NA18961.hp2 NA19000.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0030 a0002c0002 a0002c0030	a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0069 a0002c0030t0002	a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0239 others(9): Show a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0239 a0002c0002t0001g0272 a0002c0002t0002g0099 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0008g0029 a0002c0002t0009g0238 a0002c0002t0069g0190 a0002c0030t0002g0100	12	322	0.0373	-87	c.735 others(97): Show c.735-55_766delGTGGGGGGCGGGGAGCCAAGTCCTCTGTGTCCCCC TGACACCTCCTCATCCCCAGGTCCACGCCCTGCCCCAGTGTGAAGCACGG GG	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
UNKL_chr16_1358205_1419704	1397263	TCCCCGTG others(254): Show TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTG TCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCACCCCCGTGCTTCA CGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACA GAGGACTTGGCTCCCTGCCCCCCACCCCCGTGCTTCACGCTGGGGCAGGG CGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTC CCCCACCCCGAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(38): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00733.hp2 HG00738.hp1 HG01071.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG02004.hp1 HG02109.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18612.hp2 NA18906.hp2 NA18943.hp2 NA18961.hp1 NA18980.hp2 NA18983.hp1 NA19007.hp1 NA19064.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0010 others(2): Show a0002c0002 a0002c0007 a0002c0010 a0002c0015 a0002c0019	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0011 a0002c0002t0016 a0002c0002t0031 a0002c0002t0033 a0002c0002t0048 a0002c0002t0057 a0002c0002t0062 a0002c0007t0003 a0002c0007t0020 a0002c0007t0051 a0002c0010t0001 a0002c0015t0063 a0002c0019t0008	a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 others(38): Show a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0071 a0002c0002t0001g0122 a0002c0002t0001g0147 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0202 a0002c0002t0002g0023 a0002c0002t0002g0040 a0002c0002t0003g0041 a0002c0002t0008g0065 a0002c0002t0008g0085 a0002c0002t0011g0025 a0002c0002t0016g0153 a0002c0002t0031g0090 a0002c0002t0031g0207 a0002c0002t0033g0049 a0002c0002t0048g0066 a0002c0002t0057g0154 a0002c0002t0062g0086 a0002c0007t0003g0107 a0002c0007t0003g0111 a0002c0007t0003g0113 a0002c0007t0020g0072 a0002c0007t0051g0108 a0002c0010t0001g0177 a0002c0010t0001g0261 a0002c0015t0063g0002 a0002c0019t0008g0245	41	322	0.1273	-261	c.735 others(11): Show c.735-229_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
VCX3B_chrX_8459830_8471510	8464991	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03927.hp1 HG04115.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0000 a0001 a0003 others(40): Show a0000 a0001 a0003 a0005 a0006 a0007 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0024 a0025 a0027 a0030 a0031 a0032 a0033 a0037 a0038 a0039 a0043 a0044 a0046 a0047 a0049 a0050 a0051 a0054 a0056 a0058 a0061 a0067 a0071 a0072 a0075 a0081	a0000c0083 a0001c0001 a0001c0088 others(48): Show a0000c0083 a0001c0001 a0001c0088 a0003c0003 a0003c0014 a0003c0061 a0005c0005 a0005c0010 a0005c0069 a0005c0089 a0006c0007 a0006c0036 a0007c0006 a0009c0009 a0011c0019 a0012c0012 a0013c0013 a0014c0020 a0014c0081 a0015c0015 a0016c0016 a0017c0017 a0018c0018 a0019c0023 a0021c0021 a0024c0025 a0025c0027 a0027c0030 a0030c0087 a0031c0101 a0032c0035 a0033c0037 a0037c0042 a0038c0049 a0039c0054 a0043c0048 a0044c0047 a0046c0046 a0047c0041 a0049c0039 a0050c0058 a0051c0059 a0054c0066 a0056c0065 a0058c0062 a0061c0073 a0067c0079 a0071c0090 a0072c0084 a0075c0092 a0081c0098	a0000c0083t0031 a0001c0001t0001 a0001c0001t0008 others(61): Show a0000c0083t0031 a0001c0001t0001 a0001c0001t0008 a0001c0001t0019 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0088t0001 a0003c0003t0003 a0003c0014t0003 a0003c0061t0003 a0005c0005t0003 a0005c0005t0006 a0005c0005t0007 a0005c0005t0008 a0005c0010t0003 a0005c0010t0032 a0005c0069t0003 a0005c0089t0027 a0006c0007t0012 a0006c0036t0002 a0007c0006t0003 a0007c0006t0009 a0009c0009t0007 a0009c0009t0024 a0011c0019t0008 a0012c0012t0003 a0013c0013t0003 a0014c0020t0016 a0014c0020t0036 a0014c0081t0001 a0015c0015t0006 a0016c0016t0005 a0017c0017t0003 a0017c0017t0007 a0018c0018t0014 a0019c0023t0006 a0021c0021t0001 a0024c0025t0005 a0025c0027t0005 a0027c0030t0004 a0030c0087t0001 a0031c0101t0003 a0032c0035t0026 a0033c0037t0003 a0037c0042t0003 a0038c0049t0005 a0039c0054t0005 a0043c0048t0003 a0044c0047t0025 a0046c0046t0003 a0047c0041t0023 a0049c0039t0006 a0050c0058t0005 a0051c0059t0005 a0054c0066t0001 a0056c0065t0003 a0058c0062t0003 a0061c0073t0007 a0067c0079t0008 a0071c0090t0001 a0072c0084t0003 a0075c0092t0003 a0081c0098t0001	a0000c0083t0031g0037 a0001c0001t0001g0001 a0001c0001t0001g0014 others(72): Show a0000c0083t0031g0037 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0008g0001 a0001c0001t0019g0042 a0001c0001t0034g0001 a0001c0001t0035g0001 a0001c0001t0037g0001 a0001c0088t0001g0001 a0003c0003t0003g0004 a0003c0003t0003g0011 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0014t0003g0005 a0003c0014t0003g0008 a0003c0061t0003g0004 a0005c0005t0003g0004 a0005c0005t0006g0005 a0005c0005t0007g0016 a0005c0005t0008g0028 a0005c0010t0003g0004 a0005c0010t0003g0041 a0005c0010t0032g0004 a0005c0069t0003g0038 a0005c0089t0027g0039 a0006c0007t0012g0013 a0006c0036t0002g0023 a0007c0006t0003g0005 a0007c0006t0009g0005 a0009c0009t0007g0008 a0009c0009t0024g0008 a0011c0019t0008g0001 a0012c0012t0003g0010 a0013c0013t0003g0004 a0013c0013t0003g0011 a0014c0020t0016g0001 a0014c0020t0036g0001 a0014c0081t0001g0001 a0015c0015t0006g0009 a0016c0016t0005g0005 a0017c0017t0003g0005 a0017c0017t0003g0032 a0017c0017t0007g0008 a0018c0018t0014g0005 a0019c0023t0006g0015 a0021c0021t0001g0001 a0021c0021t0001g0014 a0024c0025t0005g0017 a0025c0027t0005g0005 a0027c0030t0004g0024 a0027c0030t0004g0025 a0030c0087t0001g0001 a0031c0101t0003g0040 a0032c0035t0026g0034 a0033c0037t0003g0016 a0037c0042t0003g0009 a0038c0049t0005g0005 a0039c0054t0005g0005 a0043c0048t0003g0010 a0044c0047t0025g0031 a0046c0046t0003g0009 a0047c0041t0023g0033 a0049c0039t0006g0036 a0050c0058t0005g0005 a0051c0059t0005g0005 a0054c0066t0001g0027 a0056c0065t0003g0004 a0058c0062t0003g0004 a0061c0073t0007g0008 a0067c0079t0008g0001 a0071c0090t0001g0001 a0072c0084t0003g0011 a0075c0092t0003g0030 a0081c0098t0001g0001	137	271	0.5055	0	c.-14 others(6): Show c.-147+1G>A		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	1/2					chrX	TogoVar
VSIG10L_chr19_51326541_51347139	51332638	T T	TG TG	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(448): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0001 a0000c0002 a0000c0003 others(24): Show a0000c0001 a0000c0002 a0000c0003 a0000c0004 a0000c0005 a0000c0006 a0000c0007 a0000c0008 a0000c0009 a0000c0010 a0000c0011 a0000c0012 a0000c0013 a0000c0014 a0000c0015 a0000c0017 a0000c0018 a0000c0019 a0000c0020 a0000c0021 a0000c0023 a0000c0024 a0000c0025 a0000c0026 a0000c0027 a0000c0028 a0002c0016	a0000c0001t0001 a0000c0001t0002 a0000c0001t0006 others(40): Show a0000c0001t0001 a0000c0001t0002 a0000c0001t0006 a0000c0001t0010 a0000c0001t0016 a0000c0002t0001 a0000c0002t0002 a0000c0002t0011 a0000c0002t0012 a0000c0003t0001 a0000c0003t0002 a0000c0003t0007 a0000c0004t0003 a0000c0004t0013 a0000c0004t0017 a0000c0005t0001 a0000c0005t0008 a0000c0005t0009 a0000c0006t0001 a0000c0006t0003 a0000c0006t0014 a0000c0007t0001 a0000c0008t0004 a0000c0009t0001 a0000c0009t0015 a0000c0010t0005 a0000c0011t0001 a0000c0012t0007 a0000c0013t0002 a0000c0014t0001 a0000c0015t0001 a0000c0017t0001 a0000c0018t0001 a0000c0019t0001 a0000c0020t0003 a0000c0021t0001 a0000c0023t0001 a0000c0024t0001 a0000c0025t0001 a0000c0026t0001 a0000c0027t0003 a0000c0028t0002 a0002c0016t0001	a0000c0001t0001g0004 a0000c0001t0001g0012 a0000c0001t0001g0014 others(104): Show a0000c0001t0001g0004 a0000c0001t0001g0012 a0000c0001t0001g0014 a0000c0001t0001g0019 a0000c0001t0001g0023 a0000c0001t0001g0028 a0000c0001t0001g0081 a0000c0001t0001g0084 a0000c0001t0001g0090 a0000c0001t0001g0091 a0000c0001t0002g0002 a0000c0001t0002g0009 a0000c0001t0002g0020 a0000c0001t0002g0037 a0000c0001t0002g0082 a0000c0001t0002g0088 a0000c0001t0002g0092 a0000c0001t0002g0093 a0000c0001t0002g0095 a0000c0001t0002g0096 a0000c0001t0002g0108 a0000c0001t0006g0022 a0000c0001t0006g0083 a0000c0001t0010g0036 a0000c0001t0016g0089 a0000c0002t0001g0001 a0000c0002t0001g0011 a0000c0002t0001g0017 a0000c0002t0001g0021 a0000c0002t0001g0030 a0000c0002t0001g0048 a0000c0002t0001g0050 a0000c0002t0001g0054 a0000c0002t0001g0058 a0000c0002t0001g0059 a0000c0002t0001g0060 a0000c0002t0001g0062 a0000c0002t0001g0063 a0000c0002t0001g0066 a0000c0002t0001g0067 a0000c0002t0001g0069 a0000c0002t0002g0055 a0000c0002t0011g0056 a0000c0002t0012g0057 a0000c0003t0001g0003 a0000c0003t0001g0006 a0000c0003t0001g0027 a0000c0003t0001g0034 a0000c0003t0001g0072 a0000c0003t0001g0073 a0000c0003t0001g0077 a0000c0003t0001g0078 a0000c0003t0001g0080 a0000c0003t0001g0085 a0000c0003t0001g0086 a0000c0003t0001g0087 a0000c0003t0002g0033 a0000c0003t0007g0079 a0000c0004t0003g0005 a0000c0004t0003g0018 a0000c0004t0003g0049 a0000c0004t0013g0061 a0000c0004t0017g0068 a0000c0005t0001g0013 a0000c0005t0001g0040 a0000c0005t0001g0099 a0000c0005t0001g0100 a0000c0005t0001g0101 a0000c0005t0001g0102 a0000c0005t0001g0104 a0000c0005t0001g0105 a0000c0005t0008g0029 a0000c0005t0009g0039 a0000c0005t0009g0103 a0000c0006t0001g0007 a0000c0006t0001g0032 a0000c0006t0003g0098 a0000c0006t0014g0075 a0000c0007t0001g0008 a0000c0007t0001g0041 a0000c0007t0001g0042 a0000c0007t0001g0043 a0000c0008t0004g0010 a0000c0009t0001g0016 a0000c0009t0001g0024 a0000c0009t0015g0053 a0000c0010t0005g0015 a0000c0010t0005g0046 a0000c0011t0001g0026 a0000c0011t0001g0071 a0000c0012t0007g0025 a0000c0013t0002g0038 a0000c0013t0002g0094 a0000c0014t0001g0031 a0000c0015t0001g0035 a0000c0017t0001g0045 a0000c0018t0001g0047 a0000c0019t0001g0051 a0000c0020t0003g0052 a0000c0021t0001g0064 a0000c0023t0001g0070 a0000c0024t0001g0076 a0000c0025t0001g0074 a0000c0026t0001g0097 a0000c0027t0003g0106 a0000c0028t0002g0107 a0002c0016t0001g0044	451	452	0.9978	1	c.257 others(5): Show c.2576dupC	p.Gln others(5): Show p.Gln860fs	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding	10/10	2591/3689	2576/2604	859/867		chr19	TogoVar
XAGE1A_chrX_52490808_52505812	52497414	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	241	0.0042	-1	c.56d others(3): Show c.56delG	p.Gly others(4): Show p.Gly19fs	XAGE1A	ENSG00000204379.11	transcript	ENST00000375602.2	protein_coding	2/4	204/482	56/246	19/81	INFO_REALIGN_3_PRIME	chrX	TogoVar
XKRX_chrX_100908445_100933917	100923024	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0212 a0002c0004t0001g0212	1	297	0.0034	-1	c.372 others(4): Show c.372delG	p.Trp others(5): Show p.Trp124fs	XKRX	ENSG00000182489.9	transcript	ENST00000372956.3	protein_coding	2/3	985/2856	372/1350	124/449		chrX	TogoVar
ZNF117_chr7_64966772_64996036	64978289	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.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 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0007 a0002c0002 others(6): Show a0001c0001 a0001c0007 a0002c0002 a0002c0009 a0007c0013 a0008c0008 a0009c0010 a0010c0011 a0011c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(54): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0007t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0019 a0002c0002t0020 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0049 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0057 a0002c0002t0058 a0002c0002t0059 a0002c0002t0060 a0002c0002t0061 a0002c0002t0062 a0002c0009t0002 a0007c0013t0001 a0008c0008t0002 a0009c0010t0033 a0010c0011t0035 a0011c0012t0003	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(233): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0003g0003 a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0046 a0001c0001t0003g0076 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0116 a0001c0001t0003g0125 a0001c0001t0003g0139 a0001c0001t0003g0144 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0155 a0001c0001t0006g0036 a0001c0001t0006g0042 a0001c0001t0006g0044 a0001c0001t0006g0081 a0001c0001t0006g0102 a0001c0001t0006g0112 a0001c0001t0006g0118 a0001c0001t0006g0120 a0001c0001t0006g0123 a0001c0001t0006g0141 a0001c0001t0006g0146 a0001c0001t0006g0157 a0001c0001t0006g0162 a0001c0001t0010g0021 a0001c0001t0010g0069 a0001c0001t0011g0038 a0001c0001t0011g0089 a0001c0001t0011g0098 a0001c0001t0012g0041 a0001c0001t0012g0047 a0001c0001t0013g0024 a0001c0001t0013g0086 a0001c0001t0016g0106 a0001c0001t0016g0114 a0001c0001t0016g0121 a0001c0001t0017g0039 a0001c0001t0017g0111 a0001c0001t0021g0071 a0001c0001t0021g0072 a0001c0001t0022g0043 a0001c0001t0029g0068 a0001c0001t0030g0070 a0001c0001t0031g0093 a0001c0001t0032g0137 a0001c0001t0034g0078 a0001c0001t0036g0117 a0001c0001t0037g0160 a0001c0001t0038g0101 a0001c0001t0039g0122 a0001c0001t0040g0087 a0001c0001t0041g0131 a0001c0001t0042g0100 a0001c0001t0043g0148 a0001c0001t0044g0119 a0001c0001t0045g0142 a0001c0001t0046g0104 a0001c0007t0001g0132 a0001c0007t0001g0133 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0012 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0195 a0002c0002t0002g0198 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0260 a0002c0002t0005g0050 a0002c0002t0005g0054 a0002c0002t0005g0055 a0002c0002t0005g0056 a0002c0002t0005g0181 a0002c0002t0005g0185 a0002c0002t0005g0189 a0002c0002t0005g0190 a0002c0002t0005g0191 a0002c0002t0005g0196 a0002c0002t0005g0199 a0002c0002t0005g0200 a0002c0002t0005g0202 a0002c0002t0005g0203 a0002c0002t0005g0208 a0002c0002t0005g0214 a0002c0002t0005g0221 a0002c0002t0005g0222 a0002c0002t0005g0223 a0002c0002t0005g0229 a0002c0002t0005g0234 a0002c0002t0005g0239 a0002c0002t0005g0253 a0002c0002t0008g0059 a0002c0002t0008g0206 a0002c0002t0008g0249 a0002c0002t0008g0255 a0002c0002t0019g0225 a0002c0002t0019g0237 a0002c0002t0019g0245 a0002c0002t0020g0182 a0002c0002t0020g0194 a0002c0002t0020g0227 a0002c0002t0023g0197 a0002c0002t0023g0224 a0002c0002t0024g0210 a0002c0002t0024g0218 a0002c0002t0025g0241 a0002c0002t0025g0246 a0002c0002t0026g0058 a0002c0002t0049g0180 a0002c0002t0050g0183 a0002c0002t0051g0217 a0002c0002t0052g0184 a0002c0002t0053g0226 a0002c0002t0054g0216 a0002c0002t0055g0256 a0002c0002t0056g0254 a0002c0002t0057g0207 a0002c0002t0058g0188 a0002c0002t0059g0201 a0002c0002t0060g0261 a0002c0002t0061g0247 a0002c0002t0062g0262 a0002c0009t0002g0244 a0007c0013t0001g0154 a0008c0008t0002g0259 a0009c0010t0033g0077 a0010c0011t0035g0126 a0011c0012t0003g0115	379	444	0.8536	0	c.128 others(4): Show c.1282C>T	p.Arg others(4): Show p.Arg428*	ZNF117	ENSG00000152926.16	transcript	ENST00000282869.11	protein_coding	4/4	2567/9084	1282/1452	428/483		chr7	TogoVar
ZNF211_chr19_57628168_57649041	57633347	A A	G G	start_lost start_lost	HIGH	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(109): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG01993.hp2 HG02080.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp2 NA18522.hp2 NA18747.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA20805.hp2 NA20905.hp2	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0007 a0008	a0002c0002 a0002c0013 a0004c0007 others(3): Show a0002c0002 a0002c0013 a0004c0007 a0005c0006 a0007c0015 a0008c0014	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(12): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0015 a0002c0002t0016 a0002c0013t0002 a0004c0007t0004 a0005c0006t0002 a0007c0015t0011 a0008c0014t0001	a0002c0002t0002g0002 a0002c0002t0002g0016 a0002c0002t0002g0021 others(29): Show a0002c0002t0002g0002 a0002c0002t0002g0016 a0002c0002t0002g0021 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0003g0006 a0002c0002t0003g0010 a0002c0002t0003g0013 a0002c0002t0003g0078 a0002c0002t0004g0007 a0002c0002t0004g0093 a0002c0002t0004g0094 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0006g0007 a0002c0002t0006g0092 a0002c0002t0007g0031 a0002c0002t0007g0086 a0002c0002t0008g0013 a0002c0002t0008g0035 a0002c0002t0008g0037 a0002c0002t0011g0079 a0002c0002t0012g0029 a0002c0002t0015g0002 a0002c0002t0016g0006 a0002c0013t0002g0032 a0004c0007t0004g0007 a0005c0006t0002g0002 a0007c0015t0011g0091 a0008c0014t0001g0033	112	372	0.3011	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	ZNF211	ENSG00000121417.14	transcript	ENST00000240731.5	protein_coding	1/4	180/3773	1/1734	1/577		chr19	TogoVar
ZNF474_chr5_122124546_122158569	122152940	AT AT	A A	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00609.hp1 HG00621.hp1 others(82): Show HG00423.hp2 HG00609.hp1 HG00621.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03942.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18969.hp1 NA18969.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19067.hp1 NA19075.hp2 NA19079.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0003 a0004 a0007 others(2): Show a0003 a0004 a0007 a0011 a0017	a0003c0003 a0003c0014 a0004c0004 others(4): Show a0003c0003 a0003c0014 a0004c0004 a0007c0009 a0007c0019 a0011c0012 a0017c0016	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(11): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0007 a0003c0003t0016 a0003c0014t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0010 a0007c0009t0001 a0007c0009t0003 a0007c0019t0014 a0011c0012t0002 a0017c0016t0002	a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0007 others(76): Show a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0018 a0003c0003t0001g0028 a0003c0003t0001g0091 a0003c0003t0001g0094 a0003c0003t0001g0122 a0003c0003t0001g0146 a0003c0003t0001g0155 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0183 a0003c0003t0001g0187 a0003c0003t0001g0192 a0003c0003t0001g0205 a0003c0003t0001g0208 a0003c0003t0001g0214 a0003c0003t0001g0228 a0003c0003t0001g0234 a0003c0003t0001g0252 a0003c0003t0001g0278 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0002g0185 a0003c0003t0002g0188 a0003c0003t0002g0209 a0003c0003t0002g0222 a0003c0003t0002g0301 a0003c0003t0003g0022 a0003c0003t0003g0052 a0003c0003t0003g0063 a0003c0003t0003g0074 a0003c0003t0003g0109 a0003c0003t0003g0170 a0003c0003t0003g0189 a0003c0003t0003g0194 a0003c0003t0007g0011 a0003c0003t0016g0309 a0003c0014t0001g0126 a0004c0004t0002g0029 a0004c0004t0002g0044 a0004c0004t0002g0135 a0004c0004t0002g0242 a0004c0004t0003g0001 a0004c0004t0003g0004 a0004c0004t0003g0008 a0004c0004t0003g0027 a0004c0004t0003g0037 a0004c0004t0003g0038 a0004c0004t0003g0065 a0004c0004t0003g0069 a0004c0004t0003g0070 a0004c0004t0003g0118 a0004c0004t0003g0123 a0004c0004t0003g0138 a0004c0004t0003g0203 a0004c0004t0003g0221 a0004c0004t0003g0232 a0004c0004t0003g0233 a0004c0004t0003g0235 a0004c0004t0003g0273 a0004c0004t0003g0298 a0004c0004t0003g0300 a0004c0004t0003g0306 a0004c0004t0003g0307 a0004c0004t0010g0134 a0007c0009t0001g0184 a0007c0009t0001g0230 a0007c0009t0003g0204 a0007c0019t0014g0201 a0011c0012t0002g0172 a0011c0012t0002g0314 a0017c0016t0002g0161	85	386	0.2202	-1	c.953 others(4): Show c.953delT	p.Leu others(5): Show p.Leu318fs	ZNF474	ENSG00000164185.7	transcript	ENST00000296600.5	protein_coding	2/2	1303/1929	953/1095	318/364	INFO_REALIGN_3_PRIME	chr5	TogoVar
ZNF480_chr19_52292169_52330922	52300416	CTG CTG	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(217): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0011	a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 others(11): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0003t0014 a0001c0003t0016 a0001c0004t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0002 a0001c0011t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0015 others(157): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0060 a0001c0002t0001g0072 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0095 a0001c0002t0001g0103 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0147 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0200 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0273 a0001c0002t0006g0177 a0001c0002t0006g0182 a0001c0002t0006g0183 a0001c0002t0006g0184 a0001c0002t0006g0192 a0001c0002t0010g0001 a0001c0002t0010g0170 a0001c0002t0021g0002 a0001c0003t0001g0050 a0001c0003t0001g0052 a0001c0003t0001g0099 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0235 a0001c0003t0001g0243 a0001c0003t0002g0003 a0001c0003t0002g0006 a0001c0003t0002g0011 a0001c0003t0002g0014 a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0051 a0001c0003t0002g0059 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0096 a0001c0003t0002g0098 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0115 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0132 a0001c0003t0002g0136 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0145 a0001c0003t0002g0160 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0175 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0234 a0001c0003t0002g0267 a0001c0003t0012g0094 a0001c0003t0014g0196 a0001c0003t0016g0097 a0001c0004t0001g0001 a0001c0004t0001g0012 a0001c0004t0001g0019 a0001c0004t0001g0022 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0001g0036 a0001c0004t0001g0041 a0001c0004t0001g0044 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0073 a0001c0004t0001g0085 a0001c0004t0001g0088 a0001c0004t0001g0104 a0001c0004t0001g0116 a0001c0004t0001g0117 a0001c0004t0001g0141 a0001c0004t0001g0161 a0001c0004t0001g0176 a0001c0004t0001g0179 a0001c0004t0001g0181 a0001c0004t0001g0197 a0001c0004t0001g0198 a0001c0004t0001g0199 a0001c0004t0001g0201 a0001c0004t0001g0202 a0001c0004t0001g0206 a0001c0004t0001g0220 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0225 a0001c0004t0001g0227 a0001c0008t0001g0246 a0001c0009t0001g0236 a0001c0010t0002g0105 a0001c0011t0001g0031	220	378	0.5820	-2	c.9_1 others(6): Show c.9_10delTG	p.Cys others(3): Show p.Cys3fs	ZNF480	ENSG00000198464.14	transcript	ENST00000595962.6	protein_coding	2/5	83/4746	9/1608	3/535	INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF528_chr19_52392849_52423401	52401662	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0009 a0011 a0012	a0001c0001 a0001c0010 a0002c0002 others(6): Show a0001c0001 a0001c0010 a0002c0002 a0003c0004 a0005c0005 a0007c0014 a0009c0008 a0011c0011 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0010t0001 a0002c0002t0005 a0003c0004t0001 a0005c0005t0003 a0007c0014t0003 a0009c0008t0001 a0011c0011t0003 a0012c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(112): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0165 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0229 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0164 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0162 a0001c0001t0003g0227 a0001c0001t0006g0046 a0001c0001t0006g0170 a0001c0001t0006g0172 a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0007g0133 a0001c0001t0013g0002 a0001c0001t0013g0003 a0001c0001t0019g0028 a0001c0001t0020g0097 a0001c0001t0023g0055 a0001c0010t0001g0003 a0002c0002t0005g0016 a0002c0002t0005g0179 a0002c0002t0005g0198 a0003c0004t0001g0003 a0005c0005t0003g0132 a0005c0005t0003g0206 a0007c0014t0003g0012 a0009c0008t0001g0002 a0011c0011t0003g0007 a0012c0012t0001g0118	228	476	0.4790	1	c.-13 others(7): Show c.-136-3dupT		ZNF528	ENSG00000167555.14	transcript	ENST00000360465.8	protein_coding	2/6				INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF626_chr19_20614939_20666571	20624327	GGCTTTGC others(160): Show GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCT CTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTT CACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGG TTAGAGGAGCACTTAAAA	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.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 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0004 a0000 a0004	a0000c0001 a0000c0004 a0000c0005 others(9): Show a0000c0001 a0000c0004 a0000c0005 a0000c0006 a0000c0007 a0000c0009 a0000c0012 a0000c0014 a0000c0015 a0000c0016 a0000c0017 a0004c0010	a0000c0001t0001 a0000c0001t0002 a0000c0001t0003 others(50): Show a0000c0001t0001 a0000c0001t0002 a0000c0001t0003 a0000c0001t0005 a0000c0001t0010 a0000c0001t0013 a0000c0001t0014 a0000c0001t0015 a0000c0001t0016 a0000c0001t0017 a0000c0001t0023 a0000c0001t0034 a0000c0001t0035 a0000c0001t0036 a0000c0001t0037 a0000c0001t0038 a0000c0001t0042 a0000c0001t0043 a0000c0001t0049 a0000c0001t0050 a0000c0001t0052 a0000c0001t0053 a0000c0001t0054 a0000c0001t0055 a0000c0001t0056 a0000c0001t0057 a0000c0001t0058 a0000c0001t0059 a0000c0001t0060 a0000c0001t0061 a0000c0001t0065 a0000c0001t0066 a0000c0001t0067 a0000c0001t0068 a0000c0004t0007 a0000c0004t0012 a0000c0004t0024 a0000c0004t0039 a0000c0005t0002 a0000c0005t0003 a0000c0006t0018 a0000c0006t0019 a0000c0006t0030 a0000c0007t0007 a0000c0007t0012 a0000c0009t0022 a0000c0012t0069 a0000c0014t0051 a0000c0015t0003 a0000c0016t0033 a0000c0017t0014 a0004c0010t0040 a0004c0010t0041	a0000c0001t0001g0001 a0000c0001t0001g0004 a0000c0001t0001g0014 others(254): Show a0000c0001t0001g0001 a0000c0001t0001g0004 a0000c0001t0001g0014 a0000c0001t0001g0016 a0000c0001t0001g0017 a0000c0001t0001g0019 a0000c0001t0001g0029 a0000c0001t0001g0082 a0000c0001t0001g0084 a0000c0001t0001g0088 a0000c0001t0001g0089 a0000c0001t0001g0090 a0000c0001t0001g0091 a0000c0001t0001g0092 a0000c0001t0001g0093 a0000c0001t0001g0094 a0000c0001t0001g0095 a0000c0001t0001g0097 a0000c0001t0001g0100 a0000c0001t0001g0103 a0000c0001t0001g0108 a0000c0001t0001g0109 a0000c0001t0001g0111 a0000c0001t0001g0112 a0000c0001t0001g0115 a0000c0001t0001g0116 a0000c0001t0001g0117 a0000c0001t0001g0118 a0000c0001t0001g0119 a0000c0001t0001g0120 a0000c0001t0001g0121 a0000c0001t0001g0122 a0000c0001t0001g0123 a0000c0001t0001g0124 a0000c0001t0001g0125 a0000c0001t0001g0126 a0000c0001t0001g0127 a0000c0001t0001g0128 a0000c0001t0001g0129 a0000c0001t0001g0130 a0000c0001t0001g0144 a0000c0001t0001g0155 a0000c0001t0001g0157 a0000c0001t0001g0158 a0000c0001t0001g0162 a0000c0001t0001g0163 a0000c0001t0001g0164 a0000c0001t0001g0167 a0000c0001t0001g0168 a0000c0001t0001g0169 a0000c0001t0001g0170 a0000c0001t0001g0171 a0000c0001t0001g0193 a0000c0001t0001g0194 a0000c0001t0001g0195 a0000c0001t0001g0198 a0000c0001t0001g0207 a0000c0001t0002g0005 a0000c0001t0002g0022 a0000c0001t0002g0225 a0000c0001t0002g0227 a0000c0001t0002g0230 a0000c0001t0002g0231 a0000c0001t0002g0234 a0000c0001t0002g0235 a0000c0001t0002g0236 a0000c0001t0002g0237 a0000c0001t0002g0238 a0000c0001t0002g0239 a0000c0001t0002g0241 a0000c0001t0002g0243 a0000c0001t0002g0244 a0000c0001t0002g0245 a0000c0001t0002g0246 a0000c0001t0002g0247 a0000c0001t0002g0249 a0000c0001t0002g0250 a0000c0001t0002g0251 a0000c0001t0002g0252 a0000c0001t0002g0253 a0000c0001t0002g0254 a0000c0001t0002g0255 a0000c0001t0002g0258 a0000c0001t0002g0259 a0000c0001t0002g0260 a0000c0001t0002g0261 a0000c0001t0002g0262 a0000c0001t0002g0263 a0000c0001t0002g0264 a0000c0001t0002g0266 a0000c0001t0002g0267 a0000c0001t0002g0268 a0000c0001t0002g0269 a0000c0001t0002g0270 a0000c0001t0002g0271 a0000c0001t0002g0274 a0000c0001t0002g0276 a0000c0001t0002g0278 a0000c0001t0002g0280 a0000c0001t0002g0281 a0000c0001t0002g0282 a0000c0001t0002g0283 a0000c0001t0002g0284 a0000c0001t0002g0285 a0000c0001t0002g0286 a0000c0001t0002g0287 a0000c0001t0002g0288 a0000c0001t0002g0289 a0000c0001t0002g0290 a0000c0001t0002g0298 a0000c0001t0002g0299 a0000c0001t0002g0300 a0000c0001t0003g0003 a0000c0001t0003g0010 a0000c0001t0003g0028 a0000c0001t0003g0030 a0000c0001t0003g0039 a0000c0001t0003g0056 a0000c0001t0003g0057 a0000c0001t0003g0058 a0000c0001t0003g0059 a0000c0001t0003g0063 a0000c0001t0003g0064 a0000c0001t0003g0065 a0000c0001t0003g0066 a0000c0001t0003g0067 a0000c0001t0003g0068 a0000c0001t0003g0069 a0000c0001t0003g0070 a0000c0001t0003g0071 a0000c0001t0003g0075 a0000c0001t0003g0076 a0000c0001t0003g0077 a0000c0001t0003g0078 a0000c0001t0003g0098 a0000c0001t0003g0099 a0000c0001t0003g0104 a0000c0001t0003g0110 a0000c0001t0003g0113 a0000c0001t0003g0114 a0000c0001t0003g0131 a0000c0001t0003g0135 a0000c0001t0003g0137 a0000c0001t0003g0138 a0000c0001t0003g0141 a0000c0001t0003g0143 a0000c0001t0003g0156 a0000c0001t0003g0174 a0000c0001t0003g0184 a0000c0001t0003g0185 a0000c0001t0003g0186 a0000c0001t0003g0205 a0000c0001t0003g0206 a0000c0001t0003g0211 a0000c0001t0005g0015 a0000c0001t0005g0018 a0000c0001t0005g0083 a0000c0001t0005g0133 a0000c0001t0005g0139 a0000c0001t0005g0145 a0000c0001t0005g0146 a0000c0001t0005g0147 a0000c0001t0005g0148 a0000c0001t0005g0149 a0000c0001t0005g0150 a0000c0001t0005g0151 a0000c0001t0005g0152 a0000c0001t0005g0153 a0000c0001t0005g0154 a0000c0001t0005g0172 a0000c0001t0005g0175 a0000c0001t0010g0009 a0000c0001t0010g0316 a0000c0001t0010g0317 a0000c0001t0010g0327 a0000c0001t0013g0232 a0000c0001t0013g0240 a0000c0001t0013g0256 a0000c0001t0013g0275 a0000c0001t0014g0008 a0000c0001t0015g0072 a0000c0001t0015g0073 a0000c0001t0015g0074 a0000c0001t0016g0006 a0000c0001t0017g0257 a0000c0001t0017g0272 a0000c0001t0017g0295 a0000c0001t0023g0061 a0000c0001t0023g0062 a0000c0001t0034g0102 a0000c0001t0035g0060 a0000c0001t0036g0081 a0000c0001t0037g0166 a0000c0001t0038g0107 a0000c0001t0042g0105 a0000c0001t0043g0165 a0000c0001t0049g0292 a0000c0001t0050g0223 a0000c0001t0052g0248 a0000c0001t0053g0242 a0000c0001t0054g0265 a0000c0001t0055g0277 a0000c0001t0056g0273 a0000c0001t0057g0279 a0000c0001t0058g0224 a0000c0001t0059g0233 a0000c0001t0060g0328 a0000c0001t0061g0314 a0000c0001t0065g0318 a0000c0001t0066g0320 a0000c0001t0067g0330 a0000c0001t0068g0307 a0000c0004t0007g0012 a0000c0004t0007g0013 a0000c0004t0007g0021 a0000c0004t0007g0041 a0000c0004t0007g0042 a0000c0004t0007g0044 a0000c0004t0007g0045 a0000c0004t0007g0046 a0000c0004t0007g0054 a0000c0004t0007g0055 a0000c0004t0007g0183 a0000c0004t0007g0187 a0000c0004t0012g0308 a0000c0004t0012g0310 a0000c0004t0024g0047 a0000c0004t0024g0050 a0000c0004t0039g0040 a0000c0005t0002g0228 a0000c0005t0002g0229 a0000c0005t0003g0011 a0000c0005t0003g0031 a0000c0005t0003g0032 a0000c0005t0003g0033 a0000c0005t0003g0034 a0000c0005t0003g0043 a0000c0005t0003g0048 a0000c0005t0003g0049 a0000c0005t0003g0051 a0000c0006t0018g0304 a0000c0006t0018g0305 a0000c0006t0018g0306 a0000c0006t0019g0020 a0000c0006t0030g0035 a0000c0007t0007g0101 a0000c0007t0012g0023 a0000c0007t0012g0329 a0000c0009t0022g0087 a0000c0009t0022g0177 a0000c0012t0069g0303 a0000c0014t0051g0226 a0000c0015t0003g0037 a0000c0016t0033g0038 a0000c0017t0014g0221 a0004c0010t0040g0203 a0004c0010t0041g0204	294	378	0.7778	-167	c.138 others(9): Show c.1383_1549del	p.Cys others(5): Show p.Cys464fs	ZNF626	ENSG00000188171.17	transcript	ENST00000601440.6	protein_coding	4/4	1674/6063	1383/1587	461/528		chr19	TogoVar
ZNF80_chr3_114229631_114242578	114236340	A A	C C	stop_gained stop_gained	HIGH	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(64): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02145.hp1 HG02273.hp1 HG02293.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18949.hp1 NA18949.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18972.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18998.hp2 NA18999.hp2 NA19009.hp1 NA19011.hp2 NA19057.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19088.hp2 NA20805.hp2 NA21309.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0009 a0003c0003 a0007c0009	a0003c0003t0003 a0003c0003t0007 a0003c0003t0014 others(4): Show a0003c0003t0003 a0003c0003t0007 a0003c0003t0014 a0003c0003t0015 a0003c0003t0021 a0003c0003t0023 a0007c0009t0003	a0003c0003t0003g0000 a0003c0003t0007g0000 a0003c0003t0014g0000 others(4): Show a0003c0003t0003g0000 a0003c0003t0007g0000 a0003c0003t0014g0000 a0003c0003t0015g0000 a0003c0003t0021g0000 a0003c0003t0023g0000 a0007c0009t0003g0000	67	426	0.1573	0	c.735 others(3): Show c.735T>G	p.Tyr others(4): Show p.Tyr245*	ZNF80	ENSG00000174255.8	transcript	ENST00000482457.4	protein_coding	1/1	1239/2948	735/822	245/273		chr3	TogoVar

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