Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

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
RXFP2_chr13_31734526_31808389	31786554	T T	TAA TAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00639.hp2 others(99): Show HG00099.hp2 HG00280.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01975.hp1 HG02004.hp1 HG02109.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18950.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18991.hp2 NA18994.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0002c0012 a0003c0005 others(2): Show a0001c0001 a0002c0012 a0003c0005 a0005c0009 a0009c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0012t0002 a0003c0005t0002 a0005c0009t0001 a0009c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0367 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0230 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0002c0012t0002g0124 a0003c0005t0002g0105 a0003c0005t0002g0241 a0003c0005t0002g0242 a0005c0009t0001g0174 a0009c0006t0001g0258	102	386	0.2643	2	c.100 others(15): Show c.1002-3_1002-2dupAA		RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr13	TogoVar
SCART1_chr10_133448945_133474760	133457333	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0007 a0003c0008 others(16): Show a0003c0003 a0003c0007 a0003c0008 a0003c0009 a0003c0024 a0003c0027 a0003c0038 a0003c0039 a0003c0040 a0004c0005 a0004c0010 a0004c0015 a0004c0019 a0004c0020 a0004c0021 a0004c0043 a0004c0057 a0004c0058 a0004c0065	a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 others(20): Show a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 a0003c0009t0003 a0003c0009t0006 a0003c0024t0003 a0003c0027t0007 a0003c0038t0003 a0003c0039t0003 a0003c0040t0006 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0010t0003 a0004c0015t0001 a0004c0019t0007 a0004c0019t0008 a0004c0020t0005 a0004c0021t0003 a0004c0043t0005 a0004c0057t0003 a0004c0058t0019 a0004c0065t0003	a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(62): Show a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 a0003c0003t0003g0029 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0112 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0170 a0003c0007t0003g0098 a0003c0007t0003g0101 a0003c0007t0003g0103 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0109 a0003c0007t0003g0111 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0009t0003g0120 a0003c0009t0006g0024 a0003c0009t0006g0123 a0003c0024t0003g0102 a0003c0024t0003g0106 a0003c0024t0003g0136 a0003c0027t0007g0119 a0003c0027t0007g0124 a0003c0038t0003g0005 a0003c0039t0003g0126 a0003c0040t0006g0135 a0004c0005t0003g0027 a0004c0005t0003g0036 a0004c0005t0003g0054 a0004c0005t0003g0117 a0004c0005t0005g0166 a0004c0005t0005g0168 a0004c0005t0007g0143 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0034 a0004c0010t0003g0094 a0004c0010t0003g0110 a0004c0015t0001g0001 a0004c0015t0001g0033 a0004c0015t0001g0073 a0004c0015t0001g0097 a0004c0019t0007g0118 a0004c0019t0008g0132 a0004c0019t0008g0133 a0004c0019t0008g0134 a0004c0020t0005g0044 a0004c0020t0005g0164 a0004c0020t0005g0165 a0004c0021t0003g0099 a0004c0021t0003g0100 a0004c0021t0003g0107 a0004c0021t0003g0108 a0004c0043t0005g0167 a0004c0057t0003g0131 a0004c0058t0019g0060 a0004c0065t0003g0029	93	434	0.2143	-1	c.444 others(4): Show c.444delC	p.Glu others(5): Show p.Glu149fs	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	3/12	497/4929	444/3084	148/1027	INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133464740	CTGGGGTG CTGGGGTG	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1	a0003 a0004 a0009 others(8): Show a0003 a0004 a0009 a0011 a0021 a0027 a0030 a0032 a0034 a0035 a0037	a0003c0003 a0003c0007 a0003c0008 others(24): Show a0003c0003 a0003c0007 a0003c0008 a0003c0009 a0003c0024 a0003c0027 a0003c0038 a0003c0039 a0004c0005 a0004c0010 a0004c0019 a0004c0020 a0004c0021 a0004c0043 a0004c0057 a0004c0058 a0004c0065 a0009c0025 a0009c0047 a0011c0016 a0021c0060 a0027c0050 a0030c0045 a0032c0031 a0034c0033 a0035c0032 a0037c0041	a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 others(28): Show a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 a0003c0009t0003 a0003c0009t0006 a0003c0024t0003 a0003c0027t0007 a0003c0038t0003 a0003c0039t0003 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0010t0003 a0004c0019t0007 a0004c0019t0008 a0004c0020t0005 a0004c0021t0003 a0004c0043t0005 a0004c0057t0003 a0004c0058t0019 a0004c0065t0003 a0009c0025t0003 a0009c0047t0004 a0011c0016t0004 a0021c0060t0003 a0027c0050t0004 a0030c0045t0004 a0032c0031t0003 a0034c0033t0003 a0035c0032t0004 a0037c0041t0004	a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(69): Show a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 a0003c0003t0003g0029 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0112 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0170 a0003c0007t0003g0098 a0003c0007t0003g0101 a0003c0007t0003g0103 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0109 a0003c0007t0003g0111 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0009t0003g0120 a0003c0009t0006g0024 a0003c0009t0006g0123 a0003c0024t0003g0102 a0003c0024t0003g0106 a0003c0024t0003g0136 a0003c0027t0007g0119 a0003c0027t0007g0124 a0003c0038t0003g0005 a0003c0039t0003g0126 a0004c0005t0003g0027 a0004c0005t0003g0036 a0004c0005t0003g0054 a0004c0005t0003g0117 a0004c0005t0005g0166 a0004c0005t0005g0168 a0004c0005t0007g0143 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0034 a0004c0010t0003g0094 a0004c0010t0003g0110 a0004c0019t0007g0118 a0004c0019t0008g0132 a0004c0019t0008g0133 a0004c0019t0008g0134 a0004c0020t0005g0044 a0004c0020t0005g0164 a0004c0020t0005g0165 a0004c0021t0003g0099 a0004c0021t0003g0100 a0004c0021t0003g0107 a0004c0021t0003g0108 a0004c0043t0005g0167 a0004c0057t0003g0131 a0004c0058t0019g0060 a0004c0065t0003g0029 a0009c0025t0003g0030 a0009c0025t0003g0122 a0009c0047t0004g0055 a0011c0016t0004g0017 a0011c0016t0004g0050 a0021c0060t0003g0158 a0027c0050t0004g0017 a0030c0045t0004g0137 a0032c0031t0003g0121 a0034c0033t0003g0096 a0035c0032t0004g0017 a0037c0041t0004g0053	102	434	0.2350	-7	c.211 others(16): Show c.2117_2123delTGTGGGG	p.Val others(5): Show p.Val706fs	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	7/12	2170/4929	2117/3084	706/1027	INFO_REALIGN_3_PRIME	chr10	TogoVar
SEC61B_chr9_99217282_99235615	99222365	T T	A A	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	350	0.0029	0	c.2T> others(1): Show c.2T>A	p.Met others(2): Show p.Met1?	SEC61B	ENSG00000106803.10	transcript	ENST00000223641.5	protein_coding	1/4	84/564	2/291	1/96		chr9	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
SHC4_chr15_48818741_48968919	48867817	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	384	0.0026	0	c.946 others(5): Show c.946+1G>T		SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	6/11					chr15	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
SIGLEC12_chr19_51486227_51506800	51501649	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03831.hp1 HG06807.hp2 NA18906.hp1 NA18944.hp2 NA18956.hp2 NA19002.hp1 NA19030.hp2 NA19043.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0003 a0003	a0003c0006 a0003c0007 a0003c0009 others(12): Show a0003c0006 a0003c0007 a0003c0009 a0003c0011 a0003c0013 a0003c0016 a0003c0017 a0003c0025 a0003c0026 a0003c0027 a0003c0048 a0003c0049 a0003c0050 a0003c0051 a0003c0052	a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 others(15): Show a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 a0003c0009t0002 a0003c0011t0002 a0003c0013t0001 a0003c0013t0003 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0026t0002 a0003c0027t0001 a0003c0048t0001 a0003c0049t0004 a0003c0050t0001 a0003c0051t0003 a0003c0052t0002	a0003c0006t0001g0153 a0003c0006t0001g0156 a0003c0006t0001g0157 others(29): Show a0003c0006t0001g0153 a0003c0006t0001g0156 a0003c0006t0001g0157 a0003c0006t0001g0158 a0003c0006t0001g0167 a0003c0006t0004g0015 a0003c0007t0002g0009 a0003c0007t0002g0152 a0003c0009t0002g0016 a0003c0009t0002g0159 a0003c0011t0002g0046 a0003c0011t0002g0047 a0003c0011t0002g0160 a0003c0011t0002g0166 a0003c0013t0001g0162 a0003c0013t0001g0165 a0003c0013t0003g0163 a0003c0013t0003g0164 a0003c0016t0001g0169 a0003c0016t0005g0049 a0003c0017t0006g0048 a0003c0017t0006g0168 a0003c0025t0005g0050 a0003c0026t0002g0173 a0003c0026t0002g0174 a0003c0027t0001g0171 a0003c0027t0001g0172 a0003c0048t0001g0151 a0003c0049t0004g0155 a0003c0050t0001g0154 a0003c0051t0003g0161 a0003c0052t0002g0170	53	432	0.1227	0	c.85C others(2): Show c.85C>T	p.Gln others(3): Show p.Gln29*	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	152/2269	85/1788	29/595		chr19	TogoVar
SLC22A10_chr11_63284903_63316783	63290453	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(160): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0009 a0002c0012 others(4): Show a0002c0002 a0002c0009 a0002c0012 a0002c0013 a0002c0014 a0002c0015 a0011c0019	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0009t0002 a0002c0012t0002 a0002c0013t0002 a0002c0014t0002 a0002c0015t0002 a0011c0019t0002	a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0005 others(95): Show a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0016 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0041 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0207 a0002c0002t0003g0052 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0007g0039 a0002c0002t0007g0104 a0002c0002t0009g0027 a0002c0002t0009g0135 a0002c0009t0002g0040 a0002c0012t0002g0063 a0002c0013t0002g0142 a0002c0014t0002g0080 a0002c0015t0002g0126 a0011c0019t0002g0045	163	402	0.4055	0	c.288 others(3): Show c.288G>A	p.Trp others(3): Show p.Trp96*	SLC22A10	ENSG00000184999.13	transcript	ENST00000332793.11	protein_coding	1/10	551/2638	288/1626	96/541		chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63081015	A A	C C	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0006 a0007 a0008 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0017 a0002c0002 others(14): Show a0001c0001 a0001c0017 a0002c0002 a0002c0008 a0002c0024 a0002c0025 a0004c0004 a0006c0006 a0007c0007 a0007c0018 a0008c0011 a0008c0023 a0010c0010 a0011c0013 a0012c0014 a0014c0016 a0015c0022	a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 others(16): Show a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 a0002c0008t0001 a0002c0024t0001 a0002c0025t0001 a0004c0004t0001 a0006c0006t0001 a0007c0007t0002 a0007c0007t0004 a0007c0018t0002 a0008c0011t0001 a0008c0023t0001 a0010c0010t0001 a0010c0010t0006 a0011c0013t0001 a0012c0014t0001 a0014c0016t0001 a0015c0022t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(263): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0273 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0319 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0017t0001g0089 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0118 a0002c0002t0001g0125 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0147 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0231 a0002c0002t0001g0235 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0270 a0002c0002t0001g0284 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0312 a0002c0002t0001g0337 a0002c0002t0001g0346 a0002c0002t0001g0348 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0008t0001g0262 a0002c0008t0001g0280 a0002c0008t0001g0281 a0002c0008t0001g0282 a0002c0008t0001g0283 a0002c0008t0001g0313 a0002c0008t0001g0314 a0002c0008t0001g0320 a0002c0008t0001g0328 a0002c0024t0001g0139 a0002c0025t0001g0153 a0004c0004t0001g0004 a0004c0004t0001g0095 a0004c0004t0001g0110 a0004c0004t0001g0124 a0004c0004t0001g0140 a0004c0004t0001g0152 a0004c0004t0001g0179 a0004c0004t0001g0227 a0004c0004t0001g0228 a0004c0004t0001g0229 a0004c0004t0001g0230 a0004c0004t0001g0232 a0004c0004t0001g0233 a0004c0004t0001g0234 a0004c0004t0001g0236 a0004c0004t0001g0237 a0004c0004t0001g0238 a0004c0004t0001g0239 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0242 a0004c0004t0001g0243 a0004c0004t0001g0244 a0004c0004t0001g0245 a0004c0004t0001g0246 a0004c0004t0001g0271 a0004c0004t0001g0272 a0004c0004t0001g0306 a0004c0004t0001g0307 a0004c0004t0001g0308 a0004c0004t0001g0309 a0004c0004t0001g0310 a0004c0004t0001g0315 a0006c0006t0001g0269 a0006c0006t0001g0311 a0006c0006t0001g0316 a0006c0006t0001g0317 a0006c0006t0001g0321 a0006c0006t0001g0322 a0006c0006t0001g0323 a0006c0006t0001g0324 a0006c0006t0001g0325 a0006c0006t0001g0326 a0006c0006t0001g0327 a0006c0006t0001g0329 a0006c0006t0001g0330 a0006c0006t0001g0331 a0006c0006t0001g0332 a0006c0006t0001g0333 a0006c0006t0001g0334 a0006c0006t0001g0335 a0006c0006t0001g0336 a0006c0006t0001g0338 a0007c0007t0002g0064 a0007c0007t0002g0065 a0007c0007t0002g0066 a0007c0007t0002g0069 a0007c0007t0002g0073 a0007c0007t0002g0074 a0007c0007t0002g0075 a0007c0007t0002g0076 a0007c0007t0002g0077 a0007c0007t0002g0078 a0007c0007t0002g0079 a0007c0007t0002g0080 a0007c0007t0002g0081 a0007c0007t0002g0082 a0007c0007t0004g0003 a0007c0007t0004g0085 a0007c0018t0002g0023 a0008c0011t0001g0131 a0008c0011t0001g0274 a0008c0011t0001g0275 a0008c0011t0001g0276 a0008c0011t0001g0277 a0008c0011t0001g0279 a0008c0023t0001g0278 a0010c0010t0001g0090 a0010c0010t0001g0091 a0010c0010t0001g0092 a0010c0010t0001g0093 a0010c0010t0001g0094 a0010c0010t0006g0362 a0011c0013t0001g0340 a0011c0013t0001g0341 a0011c0013t0001g0342 a0011c0013t0001g0343 a0012c0014t0001g0087 a0012c0014t0001g0088 a0014c0016t0001g0086 a0015c0022t0001g0318	268	366	0.7322	0	c.150 others(4): Show c.1503T>G	p.Tyr others(4): Show p.Tyr501*	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	9/10	1945/2101	1503/1659	501/552		chr11	TogoVar
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
SLC35G6_chr17_7476446_7488496	7482961	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 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 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.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.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 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.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0011	a0001c0001 a0001c0009 a0002c0002 others(6): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0006c0006 a0007c0008 a0008c0007 a0009c0012 a0011c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0009t0001 a0002c0002t0002 a0002c0002t0010 a0004c0004t0001 a0006c0006t0001 a0007c0008t0001 a0008c0007t0001 a0009c0012t0001 a0011c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0009t0001g0001 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0010g0001 a0004c0004t0001g0001 a0006c0006t0001g0001 a0007c0008t0001g0001 a0008c0007t0001g0001 a0009c0012t0001g0001 a0011c0014t0001g0001	317	412	0.7694	0	c.977 others(3): Show c.977G>A	p.Trp others(4): Show p.Trp326*	SLC35G6	ENSG00000259224.3	transcript	ENST00000412468.4	protein_coding	2/2	1048/1583	977/1017	326/338		chr17	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
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
SNX31_chr8_100567889_100654665	100573907	T T	TTTAGCTA others(126): Show TTTAGCTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02273.hp1 HG02273.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0223 a0014c0019t0001g0223	1	304	0.0033	133	c.128 others(142): Show c.1280_1281insTGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAGCTAA	p.Lys others(5): Show p.Lys427fs	SNX31	ENSG00000174226.9	transcript	ENST00000311812.7	protein_coding	14/14	1431/2450	1280/1323	427/440		chr8	TogoVar
SON_chr21_33538038_33582481	33576378	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028	a0001c0001 a0001c0002 a0001c0009 others(50): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0001c0034 a0001c0036 a0001c0038 a0001c0045 a0001c0047 a0001c0053 a0002c0003 a0002c0031 a0003c0004 a0003c0049 a0004c0005 a0005c0008 a0005c0015 a0005c0026 a0005c0028 a0005c0035 a0006c0006 a0007c0007 a0008c0013 a0008c0018 a0008c0024 a0009c0017 a0010c0050 a0011c0046 a0012c0044 a0013c0020 a0014c0032 a0015c0033 a0016c0037 a0017c0039 a0018c0040 a0019c0041 a0021c0042 a0022c0029 a0023c0043 a0024c0027 a0025c0048 a0026c0051 a0027c0052 a0028c0054	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0019t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0001c0034t0001 a0001c0036t0001 a0001c0038t0001 a0001c0045t0005 a0001c0047t0001 a0001c0053t0001 a0002c0003t0001 a0002c0031t0001 a0003c0004t0001 a0003c0004t0002 a0003c0049t0002 a0004c0005t0001 a0005c0008t0001 a0005c0015t0001 a0005c0026t0001 a0005c0028t0001 a0005c0035t0001 a0006c0006t0001 a0007c0007t0001 a0008c0013t0001 a0008c0018t0001 a0008c0024t0001 a0009c0017t0001 a0010c0050t0006 a0011c0046t0001 a0012c0044t0001 a0013c0020t0001 a0014c0032t0001 a0015c0033t0001 a0016c0037t0001 a0017c0039t0001 a0018c0040t0001 a0019c0041t0001 a0021c0042t0001 a0022c0029t0001 a0023c0043t0001 a0024c0027t0001 a0025c0048t0001 a0026c0051t0001 a0027c0052t0001 a0028c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(246): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0003g0003 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0009t0001g0027 a0001c0009t0001g0212 a0001c0010t0001g0034 a0001c0010t0001g0108 a0001c0011t0001g0005 a0001c0011t0001g0035 a0001c0012t0001g0082 a0001c0012t0001g0097 a0001c0014t0001g0001 a0001c0016t0001g0123 a0001c0016t0001g0124 a0001c0019t0001g0002 a0001c0021t0001g0010 a0001c0022t0001g0007 a0001c0023t0001g0012 a0001c0025t0001g0149 a0001c0034t0001g0027 a0001c0036t0001g0117 a0001c0038t0001g0122 a0001c0045t0005g0153 a0001c0047t0001g0007 a0001c0053t0001g0057 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0017 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0202 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0218 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0031t0001g0047 a0003c0004t0001g0009 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0170 a0003c0004t0001g0193 a0003c0004t0001g0195 a0003c0004t0001g0196 a0003c0004t0001g0197 a0003c0004t0001g0203 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0207 a0003c0004t0001g0210 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0002g0194 a0003c0004t0002g0198 a0003c0004t0002g0200 a0003c0004t0002g0211 a0003c0049t0002g0201 a0004c0005t0001g0015 a0004c0005t0001g0038 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0113 a0004c0005t0001g0125 a0005c0008t0001g0030 a0005c0008t0001g0089 a0005c0008t0001g0164 a0005c0008t0001g0168 a0005c0008t0001g0222 a0005c0015t0001g0111 a0005c0015t0001g0157 a0005c0026t0001g0002 a0005c0028t0001g0019 a0005c0035t0001g0011 a0006c0006t0001g0008 a0006c0006t0001g0171 a0006c0006t0001g0181 a0006c0006t0001g0221 a0007c0007t0001g0048 a0007c0007t0001g0064 a0007c0007t0001g0179 a0007c0007t0001g0180 a0008c0013t0001g0056 a0008c0013t0001g0079 a0008c0018t0001g0002 a0008c0024t0001g0002 a0009c0017t0001g0040 a0010c0050t0006g0107 a0011c0046t0001g0190 a0012c0044t0001g0209 a0013c0020t0001g0178 a0014c0032t0001g0009 a0015c0033t0001g0026 a0016c0037t0001g0199 a0017c0039t0001g0053 a0018c0040t0001g0208 a0019c0041t0001g0115 a0021c0042t0001g0167 a0022c0029t0001g0054 a0023c0043t0001g0033 a0024c0027t0001g0005 a0025c0048t0001g0030 a0026c0051t0001g0067 a0027c0052t0001g0069 a0028c0054t0001g0028	363	364	0.9973	1	c.723 others(5): Show c.7236dupA	p.Ala others(6): Show p.Ala2413fs	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	12/12	7292/8393	7237/7281	2413/2426	INFO_REALIGN_3_PRIME	chr21	TogoVar
SON_chr21_33538038_33582481	33576390	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028	a0001c0001 a0001c0002 a0001c0009 others(50): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0001c0034 a0001c0036 a0001c0038 a0001c0045 a0001c0047 a0001c0053 a0002c0003 a0002c0031 a0003c0004 a0003c0049 a0004c0005 a0005c0008 a0005c0015 a0005c0026 a0005c0028 a0005c0035 a0006c0006 a0007c0007 a0008c0013 a0008c0018 a0008c0024 a0009c0017 a0010c0050 a0011c0046 a0012c0044 a0013c0020 a0014c0032 a0015c0033 a0016c0037 a0017c0039 a0018c0040 a0019c0041 a0021c0042 a0022c0029 a0023c0043 a0024c0027 a0025c0048 a0026c0051 a0027c0052 a0028c0054	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0019t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0001c0034t0001 a0001c0036t0001 a0001c0038t0001 a0001c0045t0005 a0001c0047t0001 a0001c0053t0001 a0002c0003t0001 a0002c0031t0001 a0003c0004t0001 a0003c0004t0002 a0003c0049t0002 a0004c0005t0001 a0005c0008t0001 a0005c0015t0001 a0005c0026t0001 a0005c0028t0001 a0005c0035t0001 a0006c0006t0001 a0007c0007t0001 a0008c0013t0001 a0008c0018t0001 a0008c0024t0001 a0009c0017t0001 a0010c0050t0006 a0011c0046t0001 a0012c0044t0001 a0013c0020t0001 a0014c0032t0001 a0015c0033t0001 a0016c0037t0001 a0017c0039t0001 a0018c0040t0001 a0019c0041t0001 a0021c0042t0001 a0022c0029t0001 a0023c0043t0001 a0024c0027t0001 a0025c0048t0001 a0026c0051t0001 a0027c0052t0001 a0028c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(246): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0003g0003 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0009t0001g0027 a0001c0009t0001g0212 a0001c0010t0001g0034 a0001c0010t0001g0108 a0001c0011t0001g0005 a0001c0011t0001g0035 a0001c0012t0001g0082 a0001c0012t0001g0097 a0001c0014t0001g0001 a0001c0016t0001g0123 a0001c0016t0001g0124 a0001c0019t0001g0002 a0001c0021t0001g0010 a0001c0022t0001g0007 a0001c0023t0001g0012 a0001c0025t0001g0149 a0001c0034t0001g0027 a0001c0036t0001g0117 a0001c0038t0001g0122 a0001c0045t0005g0153 a0001c0047t0001g0007 a0001c0053t0001g0057 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0017 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0202 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0218 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0031t0001g0047 a0003c0004t0001g0009 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0170 a0003c0004t0001g0193 a0003c0004t0001g0195 a0003c0004t0001g0196 a0003c0004t0001g0197 a0003c0004t0001g0203 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0207 a0003c0004t0001g0210 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0002g0194 a0003c0004t0002g0198 a0003c0004t0002g0200 a0003c0004t0002g0211 a0003c0049t0002g0201 a0004c0005t0001g0015 a0004c0005t0001g0038 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0113 a0004c0005t0001g0125 a0005c0008t0001g0030 a0005c0008t0001g0089 a0005c0008t0001g0164 a0005c0008t0001g0168 a0005c0008t0001g0222 a0005c0015t0001g0111 a0005c0015t0001g0157 a0005c0026t0001g0002 a0005c0028t0001g0019 a0005c0035t0001g0011 a0006c0006t0001g0008 a0006c0006t0001g0171 a0006c0006t0001g0181 a0006c0006t0001g0221 a0007c0007t0001g0048 a0007c0007t0001g0064 a0007c0007t0001g0179 a0007c0007t0001g0180 a0008c0013t0001g0056 a0008c0013t0001g0079 a0008c0018t0001g0002 a0008c0024t0001g0002 a0009c0017t0001g0040 a0010c0050t0006g0107 a0011c0046t0001g0190 a0012c0044t0001g0209 a0013c0020t0001g0178 a0014c0032t0001g0009 a0015c0033t0001g0026 a0016c0037t0001g0199 a0017c0039t0001g0053 a0018c0040t0001g0208 a0019c0041t0001g0115 a0021c0042t0001g0167 a0022c0029t0001g0054 a0023c0043t0001g0033 a0024c0027t0001g0005 a0025c0048t0001g0030 a0026c0051t0001g0067 a0027c0052t0001g0069 a0028c0054t0001g0028	363	364	0.9973	-1	c.724 others(5): Show c.7248delA	p.Arg others(6): Show p.Arg2416fs	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	12/12	7303/8393	7248/7281	2416/2426		chr21	TogoVar
SPA17_chr11_124668904_124702518	124691784	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	356	0.0028	0	c.312 others(5): Show c.312+2T>C		SPA17	ENSG00000064199.7	transcript	ENST00000227135.7	protein_coding	4/4					chr11	TogoVar
SPATA31C2_chr9_88124305_88143475	88136010	TGCAACCT others(3483): Show TGCAACCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCATGTGCTACCACGCCCGGCTAATTTTTTGTA TTTTTGGTAGAGACTGGGTTTCACCGTGTTGGCCAGGATGGTCTTGTTCT CCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGTGCCGGGCCTGCTGTCTTATTTTAATGTCTCTCTGG GCTTGATAATTTAAAAGGACTGGCATTCCTCTGATAAAAGTTATTTTATT TTCTCATTTTCCATCAATCTATCCTGTTCAGTGAAATATCGGTTCGTGCC TTTAGCCCATTTTCTAATTGGCTTGTTTTTTCTTGTTGTCGTTGTTGACT TTTGAAAACTTTAAACAATATTCTAGATATGAGCTCCTTGTCAGATATGG TTTATCAGGTGTGGTTTGCACTTTTCTTCCAGTTTTTACCCTGTCTTTAT TAACAGGCTCTTATGCAGGGCAAAAGTTTTAAATTTTGATAACATCCAAT TAATAAATTCTTAGAATTGATTGTGCTTTTCTGGTTCATGTCTAATAATT ATTCATCAAGTCCTAGGACCTGAAGAATTTCTCATTAAATTTCATATTTT TACATTGAGATGTGATCTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCCA TCTTCATATCTGACCACCATTGGTATCTAATTGGTTTTCTTATTGTCTAC CATCCCCAGGTGATATCTGATCACTCTGGCATGGCTTCAGCAAGAATTCT GTGAGGTCAGTTTAGCCAGATTCCCTCCTATTAGTAATTTTCCATACACT ACCACCCCTCCACCCTGCTCTGTGGCTATAAAATTTCTATTCAGAGGGAA ACCTGAATATATGGAAACTGGAGATTACTGCAAGACCCTATTGCAGTAAT CTCTATATCTATTGCAATAATCCCTCTGAATAACGTTTGTCTTACTATTT TTTAACAGGTGTCACGAATAGTTTTTTCTATAATACAGCTCAACAAAACA AGTCTGAAATAGAAGAATAAAGTGGGAGGAATTATTCTACCCAATTTTTT AACTTTTTACATAGCTACAGAAATCAAGACAGTGTGGTATTGGCAGGGGG ACAGACAGTTCAATAAAACAGAATTGAGAACTCAGAAATAGTTCCATACA AGTACAACCAACTGACTTTTGAAAAAAGTGCAATATCGGTTCAATAGTAC AGTGGTTCTGGAGCAGTTAGATACCATAGACAAAACAATAACCTCAATCT AACCTCATGTCTTTATTAAAAAAAAAAAGGATCAGCCGGGCGCGGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTG AAGTCAAGAGTTTGAGACCAGCCTGGCCATGGTGAAACCCCATCTCTACT AAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCCAG CTACTCAGGACGCTAAGACAGGAGAATAGCTTGAACTCTGGAAGCAAAGG TGGCACTGAGCCGGTATCGCTCCATTTCACTGCAGCCTGCACAAAAAACA AAATAAATAAAAATAACACACAAACACACACGCACACACACAGGGATTTT CAATATGAGGTCCACCATGGACGCCATCAGTCCCTGTTCCTCTGCTCCAG GAACACCCAGGCTCAGGCCCGCAGGCACCACTGAGCTGTCAGGTAGCATT CTGCTTGCCAGGAGACCAGAGGAGATGCCAGGCCCCGGTGGGAGGCCCTC GGGGGCCCAGCACAGGCCCCATATCACCCCACACAGAAGAGGCTGGGTCC CGAGCCACCTGCCCCAGGAAGGGACTGATGAGCCAGGGCTCAGGGCCTGG CCTCGGACAGAGACCTCCCATCTCATGACCAGAGACCTCCCCCGTCTCAT GACCAGAGACCTCCCCCGTCTCATGACCGGTCCTGGCCGCTGAGCCCACG GGTTTGATTTTGCCTTCATGCCTCCTGCGCTCCCCCACAGATGGACTGAG AGCTTGGGATGGAAATCCCAGTACACGATCTACCCCTACCAACCCCTGGC TGCCCTGCCTCTCCCTGGAAGCATGCTGTTCTGGTCTCTCCTGAGACTTC CCATCGCAGAAGTCTCCACTGGATTTGGAAAGGTGGAACTAATAATAAAA AGAAAGAAGAGAATCAAGCTCTGTGGGTCTGGACTGAGAGCTCCTTACCT TTCTCTTCCTAGGCGATGGTGAGGGTGGGTTGTCACAACGGAGGTAAGAG AAGTAGGGGAGTAATAGGAAGAAGAACCCCAGGGCAAACACCAAGGTGAG GAAGATATCCAACACCCATGGTGTGGAGCTGGGGGTGTTTAGTGATGAGG CACTAAGTAATTTTAGAGGAAAGGGAAGATTCTCCATGTGAATAGGCGCA TTGCTTTCTAGCAACTGAGCTCTGGGCATCCTCGTGGAGACTAGGGACTG GGGCCCAGGCCCGCATCACAGAGCTGGGGCTTCACATCACAAAGGGCTCC TTTGTTGGGGAGGGGCAGTAGGAGGGGGAGGCCGAAGCACAGCCCCTCCC CACCCTCCAAGCCGGGGATCCCTTCACCCTCCCGCCTTCCAGATCCCTCC TTCGCACTAAGTTTTGTCAGTGATAGAACTCAGCCAGTTTTCTATTCTTT CTCCCTGGAACACAGATATTACCTGGTTCCTTTTATCTGTTGGAGTCGGT GGCTTGAGGTTACCTATTTCATAGCCTTTGAAAATCTGTAGTTGACTCTG AAATTTTGGCTATGTACCAGGGATTTTTATTTTCAGAATCTCGTTCGTCC TCAACTCCAGCTTTCCCACACAATGTTTTTGTCTTCTGTGAATCCAGGGA CAAAATGTAAATTTCTTTTACTCTTATTTAGTTTTGCAAATTTTGAATAG TAAGTTTTAAAAAATTATTTCTATCTCACTTTCCTTTTTTTTTATTTTTT TTATTTTTTTGAGACGGAGTCCCTCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGTGATCTTGGCTCACTGCAAACTCCGCCTCCCGGGTTCCAGCCATTC TCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACC ACGCCCTGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGCCTCGATCTCCGGACCTTGTGATCTGCCCGCCTCT GCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCATCCTTC TATCTCACTTTCAATCAAAGGGACCTACCCACATACAATTAAGATTTTTT AAAAATTCTATTTATGTACTTATGTAATTTTATTTTAAGTTCCGGGGTAC ATGTGCAGGACCTGCAGTTTTCCTTTCTTTTTGAGATGGAGTCTCACTCT GTTGCCCAGGCTGGAGTGCAGTGGCACGCTCTTGGCTCACG	T T	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00423.hp2 HG01106.hp2 HG01928.hp1 others(12): Show HG00423.hp2 HG01106.hp2 HG01928.hp1 HG01993.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02717.hp2 HG04184.hp2 NA18952.hp2 NA18967.hp1 NA18990.hp1 NA19078.hp1 NA19090.hp2	a0007 a0042 a0007 a0042	a0007c0009 a0007c0014 a0042c0062 a0007c0009 a0007c0014 a0042c0062	a0007c0009t0003 a0007c0009t0006 a0007c0014t0003 others(1): Show a0007c0009t0003 a0007c0009t0006 a0007c0014t0003 a0042c0062t0003	a0007c0009t0003g0002 a0007c0009t0003g0079 a0007c0009t0003g0080 others(5): Show a0007c0009t0003g0002 a0007c0009t0003g0079 a0007c0009t0003g0080 a0007c0009t0006g0002 a0007c0014t0003g0003 a0007c0014t0003g0082 a0007c0014t0003g0083 a0042c0062t0003g0081	15	446	0.0336	-3490	c.-10 others(14): Show c.-1054_189+2247del		SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/4					chr9	TogoVar
SPATA31F3_chr9_34884066_34900764	34893048	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00642.hp2 HG00733.hp2 others(40): Show HG00099.hp2 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG02080.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18950.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18989.hp1 NA19056.hp1 NA19063.hp2 NA19065.hp2 NA19072.hp1 NA20752.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0005 a0004c0004t0001g0042 a0004c0004t0001g0043	43	434	0.0991	-1	c.355 others(4): Show c.355delG	p.Ala others(5): Show p.Ala119fs	SPATA31F3	ENSG00000187791.13	transcript	ENST00000340783.11	protein_coding	4/5	397/967	355/627	119/208		chr9	TogoVar
SPDYE21_chr7_67271941_67294005	67281505	T T	TGGGTGGC TGGGTGGC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2	a0002 a0009 a0012 others(2): Show a0002 a0009 a0012 a0015 a0016	a0002c0002 a0002c0010 a0009c0011 others(3): Show a0002c0002 a0002c0010 a0009c0011 a0012c0019 a0015c0015 a0016c0014	a0002c0002t0001 a0002c0002t0009 a0002c0002t0017 others(6): Show a0002c0002t0001 a0002c0002t0009 a0002c0002t0017 a0002c0010t0001 a0002c0010t0020 a0009c0011t0001 a0012c0019t0001 a0015c0015t0001 a0016c0014t0001	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 others(50): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0017 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0009g0001 a0002c0002t0009g0003 a0002c0002t0009g0077 a0002c0002t0017g0087 a0002c0010t0001g0003 a0002c0010t0001g0012 a0002c0010t0001g0037 a0002c0010t0001g0038 a0002c0010t0020g0003 a0009c0011t0001g0001 a0009c0011t0001g0012 a0009c0011t0001g0071 a0012c0019t0001g0001 a0015c0015t0001g0013 a0016c0014t0001g0004	131	460	0.2848	7	c.514 others(14): Show c.514_520dupGTGGCGG	p.Glu others(5): Show p.Glu174fs	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	4/9	1065/3286	521/1209	174/402	INFO_REALIGN_3_PRIME	chr7	TogoVar
STAG2_chrX_123956706_124107656	124061743	C C	CTTT CTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG00438.hp1 HG00597.hp1 others(37): Show HG00280.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG01123.hp2 HG01346.hp1 HG01515.hp1 HG01517.hp2 HG01952.hp1 HG02080.hp2 HG02132.hp1 HG02273.hp2 HG02280.hp2 HG02647.hp1 HG02809.hp1 HG02897.hp1 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 NA18522.hp1 NA18944.hp1 NA18952.hp1 NA18960.hp1 NA18969.hp1 NA18975.hp2 NA18983.hp1 NA19000.hp1 NA19011.hp2 NA19064.hp2 NA19077.hp1 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0071 others(37): Show a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0071 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0185 a0001c0001t0002g0259 a0001c0001t0005g0019 a0001c0001t0005g0027 a0001c0001t0005g0034 a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0006g0058	40	276	0.1449	3	c.153 others(16): Show c.1535-5_1535-3dupTTT		STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	16/34				INFO_REALIGN_3_PRIME	chrX	TogoVar
SULT1C3_chr2_108234968_108265886	108259008	AAAACTTG others(15): Show AAAACTTGGTCAGGTGATGTTAT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(53): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02056.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18989.hp2 NA18990.hp1 NA19009.hp2 NA19057.hp2 NA19070.hp1 NA19090.hp2 NA19091.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0022 a0024 a0003 a0022 a0024	a0003c0002 a0003c0031 a0022c0022 others(1): Show a0003c0002 a0003c0031 a0022c0022 a0024c0018	a0003c0002t0001 a0003c0002t0004 a0003c0031t0004 others(2): Show a0003c0002t0001 a0003c0002t0004 a0003c0031t0004 a0022c0022t0002 a0024c0018t0004	a0003c0002t0001g0094 a0003c0002t0001g0134 a0003c0002t0004g0002 others(19): Show a0003c0002t0001g0094 a0003c0002t0001g0134 a0003c0002t0004g0002 a0003c0002t0004g0009 a0003c0002t0004g0014 a0003c0002t0004g0031 a0003c0002t0004g0047 a0003c0002t0004g0052 a0003c0002t0004g0111 a0003c0002t0004g0136 a0003c0002t0004g0137 a0003c0002t0004g0138 a0003c0002t0004g0139 a0003c0002t0004g0140 a0003c0002t0004g0141 a0003c0002t0004g0142 a0003c0002t0004g0143 a0003c0002t0004g0144 a0003c0002t0004g0149 a0003c0031t0004g0009 a0022c0022t0002g0001 a0024c0018t0004g0002	56	376	0.1489	-22	c.669 others(29): Show c.669_690delTTGGTCAGGTGATGTTATAAAC	p.Trp others(5): Show p.Trp224fs	SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding	7/8	792/1244	669/915	223/304	INFO_REALIGN_3_PRIME	chr2	TogoVar
SYT15_chr10_46574128_46597064	46583722	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(39): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01256.hp1 HG01257.hp1 HG01433.hp1 HG01433.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02615.hp2 HG02683.hp2 HG02886.hp2 HG03225.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 NA19043.hp1 NA19078.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0002c0004 a0003c0013 a0009c0018	a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0009t0002 a0002c0004t0002 a0003c0013t0003 a0009c0018t0003	a0001c0001t0021g0058 a0001c0002t0001g0034 a0001c0002t0002g0006 others(19): Show a0001c0001t0021g0058 a0001c0002t0001g0034 a0001c0002t0002g0006 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0024 a0001c0002t0002g0031 a0001c0002t0002g0071 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0014g0094 a0001c0002t0014g0095 a0001c0009t0002g0109 a0002c0004t0002g0011 a0002c0004t0002g0079 a0002c0004t0002g0091 a0002c0004t0002g0092 a0003c0013t0003g0101 a0009c0018t0003g0100	42	284	0.1479	1	c.652 others(6): Show c.652-3dupC		SYT15	ENSG00000204176.14	transcript	ENST00000374321.9	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr10	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
TBC1D19_chr4_26579084_26761223	26735441	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 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 HG01069.hp1 HG01069.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 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.hp2 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 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0002c0007 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0005 a0001c0010t0001 a0002c0007t0001 a0003c0008t0006 a0004c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(270): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0002g0020 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0037 a0001c0001t0004g0039 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0008g0149 a0001c0001t0008g0209 a0001c0002t0002g0001 a0001c0002t0002g0153 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0010g0264 a0001c0003t0001g0012 a0001c0003t0001g0025 a0001c0003t0001g0027 a0001c0003t0001g0044 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0081 a0001c0003t0001g0098 a0001c0005t0001g0092 a0001c0005t0001g0100 a0001c0005t0001g0101 a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0001g0190 a0001c0006t0001g0211 a0001c0006t0005g0148 a0001c0006t0005g0207 a0001c0006t0005g0210 a0001c0010t0001g0035 a0002c0007t0001g0164 a0002c0007t0001g0165 a0002c0007t0001g0166 a0002c0007t0001g0167 a0003c0008t0006g0138 a0003c0008t0006g0139 a0004c0009t0001g0106	274	310	0.8839	1	c.108 others(7): Show c.1085-3dupT		TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	15/20				INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D31_chr8_123067707_123157153	123142457	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01168.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp2 NA19062.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0002c0006 a0002c0025 a0010c0020	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0013t0001 a0002c0006t0001 a0002c0025t0001 a0010c0020t0001	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 others(85): Show a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0031 a0001c0003t0001g0038 a0001c0003t0001g0041 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0084 a0001c0003t0001g0120 a0001c0003t0001g0148 a0001c0003t0001g0157 a0001c0003t0001g0169 a0001c0003t0001g0172 a0001c0003t0001g0193 a0001c0003t0001g0196 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0268 a0001c0003t0001g0303 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0008t0001g0042 a0001c0008t0001g0045 a0001c0008t0001g0049 a0001c0008t0001g0060 a0001c0008t0001g0238 a0001c0009t0001g0009 a0001c0009t0001g0010 a0001c0012t0001g0304 a0001c0012t0001g0305 a0001c0013t0001g0127 a0002c0006t0001g0007 a0002c0006t0001g0061 a0002c0006t0001g0064 a0002c0006t0001g0074 a0002c0006t0001g0249 a0002c0006t0001g0269 a0002c0006t0001g0316 a0002c0025t0001g0267 a0010c0020t0001g0222	89	322	0.2764	0	c.283 others(6): Show c.2835+1G>T		TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding	19/21					chr8	TogoVar
TBC1D3B_chr17_36160683_36181636	36172384	G G	C C	stop_gained stop_gained	HIGH	HG01257.hp2 HG01346.hp2 HG02273.hp2 others(1): Show HG01257.hp2 HG01346.hp2 HG02273.hp2 HG02293.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0006 a0012c0013t0006	a0012c0013t0006g0014 a0012c0013t0006g0044 a0012c0013t0006g0045 a0012c0013t0006g0014 a0012c0013t0006g0044 a0012c0013t0006g0045	4	199	0.0201	0	c.297 others(3): Show c.297C>G	p.Tyr others(3): Show p.Tyr99*	TBC1D3B	ENSG00000274808.6	transcript	ENST00000611257.5	protein_coding	6/14	455/2120	297/1650	99/549		chr17	TogoVar
TBCD_chr17_82747065_82950914	82797739	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0006 others(9): Show a0001 a0002 a0006 a0007 a0009 a0012 a0014 a0015 a0017 a0018 a0019 a0021	a0001c0001 a0001c0002 a0001c0014 others(17): Show a0001c0001 a0001c0002 a0001c0014 a0001c0015 a0002c0003 a0002c0006 a0002c0007 a0002c0011 a0002c0025 a0002c0040 a0006c0016 a0007c0048 a0009c0034 a0012c0020 a0014c0021 a0015c0022 a0017c0036 a0018c0039 a0019c0038 a0021c0046	a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 others(31): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0001c0002t0009 a0001c0002t0017 a0001c0002t0029 a0001c0002t0030 a0001c0002t0040 a0001c0014t0001 a0001c0015t0001 a0002c0003t0003 a0002c0003t0015 a0002c0003t0018 a0002c0003t0039 a0002c0006t0003 a0002c0006t0005 a0002c0006t0009 a0002c0006t0021 a0002c0007t0004 a0002c0011t0003 a0002c0025t0002 a0002c0040t0003 a0006c0016t0001 a0007c0048t0017 a0009c0034t0001 a0012c0020t0003 a0014c0021t0009 a0015c0022t0005 a0017c0036t0003 a0018c0039t0010 a0019c0038t0005 a0021c0046t0011	a0001c0001t0002g0223 a0001c0001t0002g0271 a0001c0001t0002g0301 others(115): Show a0001c0001t0002g0223 a0001c0001t0002g0271 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0309 a0001c0001t0002g0317 a0001c0001t0003g0096 a0001c0001t0026g0287 a0001c0001t0028g0213 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0252 a0001c0002t0001g0255 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0286 a0001c0002t0009g0279 a0001c0002t0017g0259 a0001c0002t0017g0261 a0001c0002t0029g0256 a0001c0002t0030g0244 a0001c0002t0040g0254 a0001c0014t0001g0273 a0001c0014t0001g0274 a0001c0014t0001g0290 a0001c0015t0001g0264 a0001c0015t0001g0289 a0001c0015t0001g0292 a0002c0003t0003g0006 a0002c0003t0003g0205 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0210 a0002c0003t0003g0212 a0002c0003t0003g0216 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0224 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0253 a0002c0003t0003g0258 a0002c0003t0003g0282 a0002c0003t0003g0285 a0002c0003t0003g0293 a0002c0003t0003g0297 a0002c0003t0003g0299 a0002c0003t0003g0300 a0002c0003t0003g0302 a0002c0003t0003g0306 a0002c0003t0003g0308 a0002c0003t0003g0310 a0002c0003t0003g0312 a0002c0003t0003g0314 a0002c0003t0003g0316 a0002c0003t0015g0294 a0002c0003t0015g0296 a0002c0003t0015g0303 a0002c0003t0015g0315 a0002c0003t0018g0202 a0002c0003t0018g0203 a0002c0003t0018g0204 a0002c0003t0039g0206 a0002c0006t0003g0313 a0002c0006t0005g0108 a0002c0006t0005g0112 a0002c0006t0005g0214 a0002c0006t0005g0215 a0002c0006t0005g0250 a0002c0006t0005g0283 a0002c0006t0005g0311 a0002c0006t0009g0251 a0002c0006t0009g0275 a0002c0006t0009g0276 a0002c0006t0009g0288 a0002c0006t0021g0139 a0002c0006t0021g0141 a0002c0007t0004g0278 a0002c0011t0003g0295 a0002c0025t0002g0131 a0002c0040t0003g0307 a0006c0016t0001g0257 a0006c0016t0001g0318 a0007c0048t0017g0174 a0009c0034t0001g0277 a0012c0020t0003g0207 a0014c0021t0009g0272 a0015c0022t0005g0284 a0017c0036t0003g0305 a0018c0039t0010g0080 a0019c0038t0005g0120 a0021c0046t0011g0233	118	318	0.3711	1	c.772 others(6): Show c.772-3dupT		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38				INFO_REALIGN_3_PRIME	chr17	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
TIGD6_chr5_149988118_150005654	149995316	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0009 others(5): Show a0001 a0004 a0009 a0010 a0012 a0013 a0014 a0015	a0001c0001 a0001c0017 a0004c0007 others(6): Show a0001c0001 a0001c0017 a0004c0007 a0009c0011 a0010c0020 a0012c0014 a0013c0015 a0014c0018 a0015c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0017t0001 a0004c0007t0003 a0009c0011t0003 a0010c0020t0003 a0012c0014t0003 a0013c0015t0001 a0014c0018t0009 a0015c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0020 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0002g0018 a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0026 a0001c0001t0003g0064 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0009g0019 a0001c0001t0017g0048 a0001c0017t0001g0049 a0004c0007t0003g0025 a0009c0011t0003g0075 a0009c0011t0003g0078 a0010c0020t0003g0059 a0012c0014t0003g0077 a0013c0015t0001g0045 a0014c0018t0009g0050 a0015c0019t0001g0051	193	436	0.4427	-1	c.103 others(5): Show c.1032delA	p.Glu others(5): Show p.Glu345fs	TIGD6	ENSG00000164296.7	transcript	ENST00000296736.4	protein_coding	2/2	1294/3493	1032/1566	344/521		chr5	TogoVar
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
TMPRSS11A_chr4_67904395_67968493	67963391	C C	T T	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0010	a0002c0002 a0002c0015 a0002c0018 others(7): Show a0002c0002 a0002c0015 a0002c0018 a0003c0005 a0003c0009 a0003c0016 a0003c0017 a0003c0019 a0005c0010 a0010c0020	a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 others(13): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 a0002c0002t0024 a0002c0002t0027 a0002c0015t0002 a0002c0018t0002 a0003c0005t0006 a0003c0005t0007 a0003c0009t0004 a0003c0009t0015 a0003c0016t0006 a0003c0017t0004 a0003c0019t0023 a0005c0010t0002 a0010c0020t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0005 others(79): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0015 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0103 a0002c0002t0002g0106 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0011g0016 a0002c0002t0019g0055 a0002c0002t0024g0089 a0002c0002t0027g0174 a0002c0015t0002g0100 a0002c0018t0002g0109 a0003c0005t0006g0022 a0003c0005t0006g0048 a0003c0005t0006g0062 a0003c0005t0006g0066 a0003c0005t0006g0067 a0003c0005t0006g0072 a0003c0005t0006g0092 a0003c0005t0006g0096 a0003c0005t0006g0107 a0003c0005t0006g0110 a0003c0005t0006g0114 a0003c0005t0007g0014 a0003c0005t0007g0065 a0003c0005t0007g0090 a0003c0005t0007g0102 a0003c0005t0007g0113 a0003c0009t0004g0013 a0003c0009t0004g0056 a0003c0009t0004g0057 a0003c0009t0004g0058 a0003c0009t0004g0104 a0003c0009t0004g0105 a0003c0009t0015g0091 a0003c0016t0006g0101 a0003c0017t0004g0050 a0003c0019t0023g0063 a0005c0010t0002g0017 a0005c0010t0002g0064 a0005c0010t0002g0079 a0005c0010t0002g0082 a0005c0010t0002g0099 a0005c0010t0002g0108 a0010c0020t0002g0085	100	394	0.2538	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	TMPRSS11A	ENSG00000187054.16	transcript	ENST00000508048.6	protein_coding	1/10	103/3304	3/1257	1/418		chr4	TogoVar
TMPRSS4_chr11_118072078_118126890	118094815	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19056.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 a0001c0001t0042 a0001c0001t0043 a0001c0002t0002 a0001c0002t0006 a0001c0002t0016 a0001c0002t0020 a0001c0002t0039 a0001c0002t0041 a0001c0012t0002 a0002c0003t0005 a0005c0006t0005 a0005c0006t0044	a0001c0001t0001g0092 a0001c0001t0002g0190 a0001c0001t0003g0009 others(124): Show a0001c0001t0001g0092 a0001c0001t0002g0190 a0001c0001t0003g0009 a0001c0001t0003g0120 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0004g0005 a0001c0001t0004g0170 a0001c0001t0004g0178 a0001c0001t0004g0180 a0001c0001t0004g0183 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0004g0207 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0004g0390 a0001c0001t0004g0391 a0001c0001t0007g0179 a0001c0001t0021g0177 a0001c0001t0021g0186 a0001c0001t0042g0229 a0001c0001t0043g0204 a0001c0002t0002g0002 a0001c0002t0002g0021 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0100 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0139 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0203 a0001c0002t0002g0248 a0001c0002t0002g0253 a0001c0002t0002g0364 a0001c0002t0002g0392 a0001c0002t0006g0001 a0001c0002t0006g0068 a0001c0002t0006g0075 a0001c0002t0006g0076 a0001c0002t0006g0097 a0001c0002t0006g0102 a0001c0002t0006g0103 a0001c0002t0006g0104 a0001c0002t0006g0105 a0001c0002t0006g0106 a0001c0002t0006g0112 a0001c0002t0006g0113 a0001c0002t0006g0122 a0001c0002t0006g0138 a0001c0002t0006g0323 a0001c0002t0016g0099 a0001c0002t0016g0101 a0001c0002t0020g0193 a0001c0002t0039g0129 a0001c0002t0041g0095 a0001c0012t0002g0098 a0001c0012t0002g0107 a0002c0003t0005g0091 a0002c0003t0005g0151 a0002c0003t0005g0158 a0005c0006t0005g0036 a0005c0006t0005g0040 a0005c0006t0005g0056 a0005c0006t0005g0114 a0005c0006t0005g0197 a0005c0006t0005g0338 a0005c0006t0044g0039	130	406	0.3202	0	c.4-1 others(3): Show c.4-1A>G		TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	1/12					chr11	TogoVar
TNK1_chr17_7376089_7394742	7387376	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(53): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01255.hp1 HG01258.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02273.hp2 HG02293.hp2 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp1 NA18987.hp1 NA18990.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19059.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19072.hp2 NA19078.hp1 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA20805.hp1	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0012 a0013 a0016	a0001c0001 a0001c0002 a0001c0031 others(5): Show a0001c0001 a0001c0002 a0001c0031 a0003c0007 a0009c0016 a0012c0024 a0013c0026 a0016c0028	a0001c0001t0001 a0001c0002t0001 a0001c0031t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0031t0001 a0003c0007t0001 a0009c0016t0001 a0012c0024t0001 a0013c0026t0001 a0016c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0048 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0002t0001g0057 a0001c0031t0001g0001 a0003c0007t0001g0001 a0003c0007t0001g0129 a0009c0016t0001g0001 a0009c0016t0001g0048 a0012c0024t0001g0001 a0013c0026t0001g0125 a0016c0028t0001g0043	56	452	0.1239	0	c.139 others(6): Show c.1398-2A>G		TNK1	ENSG00000174292.13	transcript	ENST00000688331.1	protein_coding	9/12					chr17	TogoVar
TPSD1_chr16_1251069_1264008	1256558	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00423.hp2 HG00639.hp2 others(69): Show HG00140.hp1 HG00423.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18962.hp1 NA18980.hp1 NA18982.hp2 NA18998.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0012 a0002c0018 others(3): Show a0002c0002 a0002c0012 a0002c0018 a0002c0019 a0004c0004 a0004c0007	a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 others(23): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 a0002c0002t0018 a0002c0002t0041 a0002c0002t0081 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0002t0087 a0002c0002t0093 a0002c0012t0002 a0002c0012t0027 a0002c0018t0089 a0002c0019t0079 a0004c0004t0002 a0004c0004t0006 a0004c0004t0078 a0004c0004t0080 a0004c0004t0091 a0004c0007t0088 a0004c0007t0090 a0004c0007t0092 a0004c0007t0094	a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0015 others(27): Show a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0015 a0002c0002t0008g0005 a0002c0002t0008g0014 a0002c0002t0016g0005 a0002c0002t0018g0002 a0002c0002t0041g0002 a0002c0002t0081g0013 a0002c0002t0082g0002 a0002c0002t0083g0005 a0002c0002t0084g0002 a0002c0002t0085g0002 a0002c0002t0086g0002 a0002c0002t0087g0002 a0002c0002t0093g0002 a0002c0012t0002g0002 a0002c0012t0027g0002 a0002c0018t0089g0002 a0002c0019t0079g0002 a0004c0004t0002g0002 a0004c0004t0006g0002 a0004c0004t0006g0011 a0004c0004t0078g0011 a0004c0004t0080g0002 a0004c0004t0091g0002 a0004c0007t0088g0008 a0004c0007t0090g0008 a0004c0007t0092g0008 a0004c0007t0094g0008	72	270	0.2667	-1	c.127 others(4): Show c.127delG	p.Glu others(4): Show p.Glu43fs	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	2/5	339/1573	127/729	43/242	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIM51G_chr11_48970498_48988885	48978871	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0006 a0001c0011 others(7): Show a0001c0001 a0001c0006 a0001c0011 a0003c0003 a0005c0007 a0006c0008 a0007c0009 a0008c0017 a0009c0013 a0010c0012	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0011t0001 a0003c0003t0001 a0005c0007t0001 a0006c0008t0001 a0007c0009t0001 a0008c0017t0001 a0009c0013t0001 a0010c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0004g0054 a0001c0006t0003g0032 a0001c0006t0003g0044 a0001c0006t0003g0098 a0001c0006t0003g0099 a0001c0011t0001g0126 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0005c0007t0001g0112 a0005c0007t0001g0113 a0005c0007t0001g0114 a0006c0008t0001g0122 a0006c0008t0001g0125 a0007c0009t0001g0121 a0008c0017t0001g0123 a0009c0013t0001g0133 a0010c0012t0001g0136	274	424	0.6462	0	c.738 others(5): Show c.738+1G>C		TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/6					chr11	TogoVar
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
TYW1B_chr7_72569513_72833200	72728896	C C	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp2 others(118): Show HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18985.hp1 NA18988.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0007 a0011 a0012	a0001c0001 a0001c0007 a0001c0018 others(11): Show a0001c0001 a0001c0007 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0010 a0004c0024 a0004c0025 a0005c0022 a0007c0012 a0011c0015 a0012c0013	a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 others(11): Show a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0004c0025t0001 a0005c0022t0001 a0007c0012t0001 a0011c0015t0001 a0012c0013t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(118): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0022t0001g0182 a0007c0012t0001g0166 a0007c0012t0001g0167 a0011c0015t0001g0008 a0012c0013t0004g0001	121	286	0.4231	0	c.111 others(4): Show c.1118G>A	p.Trp others(4): Show p.Trp373*	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	9/14	1243/3117	1118/2007	373/668		chr7	TogoVar
TYW1B_chr7_72569513_72833200	72744551	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(209): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0007 a0008 a0011 a0012	a0001c0001 a0001c0002 a0001c0006 others(18): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0010 a0004c0024 a0004c0025 a0005c0008 a0005c0022 a0005c0023 a0006c0009 a0007c0012 a0008c0011 a0011c0015 a0012c0013	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(19): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0004c0025t0001 a0005c0008t0001 a0005c0008t0006 a0005c0022t0001 a0005c0023t0007 a0006c0009t0001 a0007c0012t0001 a0008c0011t0001 a0011c0015t0001 a0012c0013t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(209): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0282 a0001c0006t0001g0141 a0001c0006t0001g0185 a0001c0006t0001g0191 a0001c0006t0001g0192 a0001c0006t0001g0193 a0001c0006t0001g0196 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 a0001c0006t0001g0203 a0001c0006t0001g0204 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0014t0001g0184 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0008t0001g0009 a0005c0008t0001g0011 a0005c0008t0001g0180 a0005c0008t0001g0181 a0005c0008t0001g0183 a0005c0008t0006g0010 a0005c0022t0001g0182 a0005c0023t0007g0178 a0006c0009t0001g0200 a0006c0009t0001g0201 a0006c0009t0001g0202 a0006c0009t0001g0281 a0007c0012t0001g0166 a0007c0012t0001g0167 a0008c0011t0001g0275 a0008c0011t0001g0276 a0011c0015t0001g0008 a0012c0013t0004g0001	212	286	0.7413	1	c.101 others(5): Show c.1014dupT	p.Glu others(5): Show p.Glu339fs	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	8/14	1139/3117	1014/2007	338/668		chr7	TogoVar
UNC5B_chr10_71207570_71307864	71296733	TCTGGCAG others(43): Show TCTGGCAGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCAC A	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01981.hp2 HG02273.hp1 HG01981.hp2 HG02273.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0002 a0010c0016t0049 a0010c0016t0002 a0010c0016t0049	a0010c0016t0002g0126 a0010c0016t0049g0077 a0010c0016t0002g0126 a0010c0016t0049g0077	2	368	0.0054	-50	c.248 others(62): Show c.2487_2490+46delAGAGGTGAGGGAAGTCGGGGCCACATATTCCAG CTGCACACCACACTGGC	p.Glu others(5): Show p.Glu830fs	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/17	2903/6841	2487/2838	829/945	INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC93A_chr6_167286315_167321014	167298071	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00423.hp1 HG00558.hp1 HG00597.hp1 others(26): Show HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02273.hp1 HG02698.hp1 HG03017.hp1 HG03710.hp1 HG03831.hp2 NA18953.hp2 NA18962.hp2 NA19054.hp1 NA19056.hp2 NA19067.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0003c0030 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 a0003c0003t0006 a0003c0003t0008 a0003c0030t0006 a0007c0006t0002	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0101 others(21): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0224 a0001c0001t0002g0344 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0002c0002t0005g0052 a0002c0002t0005g0345 a0002c0002t0005g0357 a0003c0003t0006g0018 a0003c0003t0006g0051 a0003c0003t0006g0346 a0003c0003t0006g0348 a0003c0003t0006g0356 a0003c0003t0006g0358 a0003c0003t0008g0349 a0003c0003t0008g0350 a0003c0030t0006g0360 a0007c0006t0002g0050 a0007c0006t0002g0347 a0007c0006t0002g0351	29	448	0.0647	0	c.625 others(5): Show c.625+1G>C		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	4/7					chr6	TogoVar
USP17L13_chr4_9219896_9231488	9225051	T T	A A	stop_gained stop_gained	HIGH	HG01928.hp2 HG01993.hp1 HG01993.hp2 others(1): Show HG01928.hp2 HG01993.hp1 HG01993.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	4	9	0.4444	0	c.156 others(3): Show c.156T>A	p.Cys others(3): Show p.Cys52*	USP17L13	ENSG00000232399.4	transcript	ENST00000429667.1	protein_coding	1/1	156/1593	156/1593	52/530		chr4	TogoVar
USP17L13_chr4_9219896_9231488	9226488	A A	G G	stop_lost others(1): Show stop_lost splice_region_variant	HIGH	HG01928.hp1 HG02273.hp1 HG01928.hp1 HG02273.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0000 a0000c0002t0000	a0000c0002t0000g0000 a0000c0002t0000g0000	2	9	0.2222	0	c.159 others(4): Show c.1593A>G	p.Ter others(11): Show p.Ter531Trpext*?	USP17L13	ENSG00000232399.4	transcript	ENST00000429667.1	protein_coding	1/1	1593/1593	1593/1593	531/530		chr4	TogoVar
USP17L15_chr4_9229385_9241046	9235977	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG03139.hp1 HG03139.hp2 HG03490.hp1 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19074.hp1 NA19074.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(48): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0049 a0050 a0051 a0052	a0001c0001 a0001c0013 a0001c0014 others(61): Show a0001c0001 a0001c0013 a0001c0014 a0001c0035 a0002c0003 a0002c0047 a0003c0002 a0004c0012 a0004c0031 a0004c0039 a0004c0049 a0005c0007 a0005c0023 a0006c0005 a0007c0008 a0007c0041 a0008c0004 a0009c0061 a0009c0062 a0009c0063 a0010c0006 a0011c0058 a0011c0059 a0011c0060 a0012c0009 a0013c0017 a0014c0011 a0015c0016 a0016c0015 a0017c0010 a0018c0018 a0019c0064 a0020c0030 a0021c0029 a0022c0020 a0023c0021 a0024c0022 a0025c0028 a0026c0027 a0027c0026 a0028c0024 a0029c0025 a0030c0057 a0031c0056 a0032c0055 a0033c0040 a0034c0038 a0035c0045 a0036c0034 a0037c0033 a0038c0032 a0039c0036 a0040c0048 a0041c0043 a0042c0044 a0043c0037 a0044c0051 a0045c0053 a0046c0052 a0047c0054 a0049c0050 a0050c0042 a0051c0065 a0052c0019	a0001c0001t0000 a0001c0013t0000 a0001c0014t0000 others(61): Show a0001c0001t0000 a0001c0013t0000 a0001c0014t0000 a0001c0035t0000 a0002c0003t0000 a0002c0047t0000 a0003c0002t0000 a0004c0012t0000 a0004c0031t0000 a0004c0039t0000 a0004c0049t0000 a0005c0007t0000 a0005c0023t0000 a0006c0005t0000 a0007c0008t0000 a0007c0041t0000 a0008c0004t0000 a0009c0061t0000 a0009c0062t0000 a0009c0063t0000 a0010c0006t0000 a0011c0058t0000 a0011c0059t0000 a0011c0060t0000 a0012c0009t0000 a0013c0017t0000 a0014c0011t0000 a0015c0016t0000 a0016c0015t0000 a0017c0010t0000 a0018c0018t0000 a0019c0064t0000 a0020c0030t0000 a0021c0029t0000 a0022c0020t0000 a0023c0021t0000 a0024c0022t0000 a0025c0028t0000 a0026c0027t0000 a0027c0026t0000 a0028c0024t0000 a0029c0025t0000 a0030c0057t0000 a0031c0056t0000 a0032c0055t0000 a0033c0040t0000 a0034c0038t0000 a0035c0045t0000 a0036c0034t0000 a0037c0033t0000 a0038c0032t0000 a0039c0036t0000 a0040c0048t0000 a0041c0043t0000 a0042c0044t0000 a0043c0037t0000 a0044c0051t0000 a0045c0053t0000 a0046c0052t0000 a0047c0054t0000 a0049c0050t0000 a0050c0042t0000 a0051c0065t0000 a0052c0019t0000	a0001c0001t0000g0000 a0001c0013t0000g0000 a0001c0014t0000g0000 others(61): Show a0001c0001t0000g0000 a0001c0013t0000g0000 a0001c0014t0000g0000 a0001c0035t0000g0000 a0002c0003t0000g0000 a0002c0047t0000g0000 a0003c0002t0000g0000 a0004c0012t0000g0000 a0004c0031t0000g0000 a0004c0039t0000g0000 a0004c0049t0000g0000 a0005c0007t0000g0000 a0005c0023t0000g0000 a0006c0005t0000g0000 a0007c0008t0000g0000 a0007c0041t0000g0000 a0008c0004t0000g0000 a0009c0061t0000g0000 a0009c0062t0000g0000 a0009c0063t0000g0000 a0010c0006t0000g0000 a0011c0058t0000g0000 a0011c0059t0000g0000 a0011c0060t0000g0000 a0012c0009t0000g0000 a0013c0017t0000g0000 a0014c0011t0000g0000 a0015c0016t0000g0000 a0016c0015t0000g0000 a0017c0010t0000g0000 a0018c0018t0000g0000 a0019c0064t0000g0000 a0020c0030t0000g0000 a0021c0029t0000g0000 a0022c0020t0000g0000 a0023c0021t0000g0000 a0024c0022t0000g0000 a0025c0028t0000g0000 a0026c0027t0000g0000 a0027c0026t0000g0000 a0028c0024t0000g0000 a0029c0025t0000g0000 a0030c0057t0000g0000 a0031c0056t0000g0000 a0032c0055t0000g0000 a0033c0040t0000g0000 a0034c0038t0000g0000 a0035c0045t0000g0000 a0036c0034t0000g0000 a0037c0033t0000g0000 a0038c0032t0000g0000 a0039c0036t0000g0000 a0040c0048t0000g0000 a0041c0043t0000g0000 a0042c0044t0000g0000 a0043c0037t0000g0000 a0044c0051t0000g0000 a0045c0053t0000g0000 a0046c0052t0000g0000 a0047c0054t0000g0000 a0049c0050t0000g0000 a0050c0042t0000g0000 a0051c0065t0000g0000 a0052c0019t0000g0000	109	110	0.9909	0	c.159 others(4): Show c.1593G>A	p.Trp others(4): Show p.Trp531*	USP17L15	ENSG00000223569.8	transcript	ENST00000456464.2	protein_coding	1/1	1593/1662	1593/1662	531/553		chr4	TogoVar
USP17L30_chr4_9358129_9369721	9364065	G G	T T	stop_gained stop_gained	HIGH	HG00673.hp1 HG01081.hp2 HG01243.hp1 others(27): Show HG00673.hp1 HG01081.hp2 HG01243.hp1 HG01515.hp1 HG01928.hp1 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02523.hp1 HG02738.hp1 HG03491.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 NA18941.hp1 NA18952.hp1 NA18955.hp1 NA18971.hp1 NA18979.hp1 NA19004.hp1 NA19062.hp1 NA19064.hp1 NA19075.hp1	a0004 a0005 a0010 others(1): Show a0004 a0005 a0010 a0018	a0004c0007 a0004c0029 a0004c0031 others(6): Show a0004c0007 a0004c0029 a0004c0031 a0005c0008 a0005c0020 a0005c0030 a0010c0017 a0010c0045 a0018c0019	a0004c0007t0000 a0004c0029t0000 a0004c0031t0000 others(6): Show a0004c0007t0000 a0004c0029t0000 a0004c0031t0000 a0005c0008t0000 a0005c0020t0000 a0005c0030t0000 a0010c0017t0000 a0010c0045t0000 a0018c0019t0000	a0004c0007t0000g0000 a0004c0029t0000g0000 a0004c0031t0000g0000 others(6): Show a0004c0007t0000g0000 a0004c0029t0000g0000 a0004c0031t0000g0000 a0005c0008t0000g0000 a0005c0020t0000g0000 a0005c0030t0000g0000 a0010c0017t0000g0000 a0010c0045t0000g0000 a0018c0019t0000g0000	30	330	0.0909	0	c.937 others(3): Show c.937G>T	p.Gly others(4): Show p.Gly313*	USP17L30	ENSG00000228856.3	transcript	ENST00000504104.1	protein_coding	1/1	937/1593	937/1593	313/530		chr4	TogoVar
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
VPS13B_chr8_99008274_99882580	99832341	A A	ATTTT ATTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00597.hp2 HG00609.hp1 HG00642.hp2 others(14): Show HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG01109.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01978.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02897.hp2 NA18991.hp2 NA19004.hp1 NA19078.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0016 a0006c0012 a0001c0002 a0001c0016 a0006c0012	a0001c0002t0001 a0001c0002t0002 a0001c0016t0004 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0016t0004 a0006c0012t0002	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(14): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0095 a0001c0002t0002g0001 a0001c0002t0002g0016 a0001c0016t0004g0088 a0006c0012t0002g0022	17	134	0.1269	4	c.933 others(17): Show c.9331-6_9331-3dupTTTT		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	51/61				INFO_REALIGN_3_PRIME	chr8	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

Search by Variant

Search

Search Results (Total: 215 hits)