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
FKBP7_chr2_178458664_178483600	178465916	G G	A A	stop_gained stop_gained	HIGH	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0056 a0002c0003t0001g0056	1	398	0.0025	0	c.523 others(3): Show c.523C>T	p.Gln others(4): Show p.Gln175*	FKBP7	ENSG00000079150.19	transcript	ENST00000424785.7	protein_coding	4/4	624/2876	523/669	175/222		chr2	TogoVar
FLG2_chr1_152343735_152365006	152350656	G G	T T	stop_gained stop_gained	HIGH	HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show HG00323.hp2 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0002 a0004 a0006 others(10): Show a0002 a0004 a0006 a0007 a0013 a0014 a0015 a0022 a0023 a0024 a0025 a0026 a0030	a0002c0002 a0002c0045 a0004c0004 others(13): Show a0002c0002 a0002c0045 a0004c0004 a0004c0048 a0006c0007 a0006c0017 a0007c0008 a0013c0028 a0014c0025 a0015c0026 a0022c0029 a0023c0030 a0024c0052 a0025c0047 a0026c0046 a0030c0031	a0002c0002t0002 a0002c0002t0011 a0002c0002t0018 others(16): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0018 a0002c0045t0002 a0004c0004t0002 a0004c0048t0002 a0006c0007t0002 a0006c0007t0006 a0006c0017t0002 a0007c0008t0002 a0013c0028t0002 a0014c0025t0002 a0015c0026t0012 a0022c0029t0002 a0023c0030t0002 a0024c0052t0002 a0025c0047t0002 a0026c0046t0002 a0030c0031t0002	a0002c0002t0002g0002 a0002c0002t0002g0074 a0002c0002t0002g0076 others(20): Show a0002c0002t0002g0002 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0011g0023 a0002c0002t0018g0070 a0002c0045t0002g0067 a0004c0004t0002g0004 a0004c0004t0002g0022 a0004c0048t0002g0071 a0006c0007t0002g0008 a0006c0007t0002g0035 a0006c0007t0006g0019 a0006c0017t0002g0024 a0007c0008t0002g0006 a0013c0028t0002g0034 a0014c0025t0002g0032 a0015c0026t0012g0033 a0022c0029t0002g0055 a0023c0030t0002g0056 a0024c0052t0002g0073 a0025c0047t0002g0069 a0026c0046t0002g0068 a0030c0031t0002g0057	155	422	0.3673	0	c.713 others(4): Show c.7130C>A	p.Ser others(5): Show p.Ser2377*	FLG2	ENSG00000143520.6	transcript	ENST00000388718.5	protein_coding	3/3	7203/9124	7130/7176	2377/2391		chr1	TogoVar
FLG_chr1_152297165_152330239	152302822	T T	A A	stop_gained stop_gained	HIGH	HG02132.hp1 NA18979.hp1 HG02132.hp1 NA18979.hp1	a0041 a0041	a0041c0045 a0041c0045	a0041c0045t0001 a0041c0045t0001	a0041c0045t0001g0169 a0041c0045t0001g0194 a0041c0045t0001g0169 a0041c0045t0001g0194	2	426	0.0047	0	c.120 others(5): Show c.12064A>T	p.Lys others(5): Show p.Lys4022*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	12136/12793	12064/12186	4022/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152304352	G G	A A	stop_gained stop_gained	HIGH	HG01243.hp1 HG01433.hp2 HG01884.hp2 others(55): Show HG01243.hp1 HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18947.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18991.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19057.hp2 NA19081.hp1 NA19082.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0006 a0010 a0012 others(22): Show a0006 a0010 a0012 a0019 a0020 a0021 a0027 a0033 a0035 a0058 a0062 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0074 a0075 a0113 a0114 a0115 a0161	a0006c0006 a0006c0136 a0010c0010 others(25): Show a0006c0006 a0006c0136 a0010c0010 a0012c0012 a0012c0063 a0012c0064 a0019c0027 a0020c0026 a0021c0025 a0027c0032 a0033c0053 a0035c0052 a0058c0066 a0062c0122 a0064c0133 a0065c0127 a0066c0132 a0067c0128 a0068c0130 a0069c0129 a0070c0131 a0071c0126 a0074c0124 a0075c0123 a0113c0179 a0114c0177 a0115c0178 a0161c0065	a0006c0006t0001 a0006c0136t0001 a0010c0010t0001 others(25): Show a0006c0006t0001 a0006c0136t0001 a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 a0012c0064t0002 a0019c0027t0003 a0020c0026t0001 a0021c0025t0002 a0027c0032t0001 a0033c0053t0001 a0035c0052t0003 a0058c0066t0001 a0062c0122t0001 a0064c0133t0003 a0065c0127t0001 a0066c0132t0001 a0067c0128t0001 a0068c0130t0001 a0069c0129t0001 a0070c0131t0001 a0071c0126t0001 a0074c0124t0002 a0075c0123t0002 a0113c0179t0001 a0114c0177t0001 a0115c0178t0001 a0161c0065t0002	a0006c0006t0001g0003 a0006c0136t0001g0124 a0010c0010t0001g0026 others(32): Show a0006c0006t0001g0003 a0006c0136t0001g0124 a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 a0012c0012t0002g0025 a0012c0012t0002g0148 a0012c0063t0002g0149 a0012c0064t0002g0150 a0019c0027t0003g0140 a0019c0027t0003g0145 a0019c0027t0003g0147 a0020c0026t0001g0062 a0020c0026t0001g0217 a0021c0025t0002g0043 a0021c0025t0002g0155 a0027c0032t0001g0022 a0033c0053t0001g0042 a0035c0052t0003g0041 a0058c0066t0001g0123 a0062c0122t0001g0152 a0064c0133t0003g0146 a0065c0127t0001g0223 a0066c0132t0001g0226 a0067c0128t0001g0218 a0068c0130t0001g0153 a0069c0129t0001g0224 a0070c0131t0001g0225 a0071c0126t0001g0222 a0074c0124t0002g0156 a0075c0123t0002g0154 a0113c0179t0001g0126 a0114c0177t0001g0125 a0115c0178t0001g0122 a0161c0065t0002g0151	58	426	0.1362	0	c.105 others(5): Show c.10534C>T	p.Gln others(5): Show p.Gln3512*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	10606/12793	10534/12186	3512/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152304887	C C	T T	stop_gained stop_gained	HIGH	HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0010 a0012 a0019 others(16): Show a0010 a0012 a0019 a0020 a0021 a0033 a0035 a0062 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0074 a0075 a0161	a0010c0010 a0012c0012 a0012c0063 others(18): Show a0010c0010 a0012c0012 a0012c0063 a0012c0064 a0019c0027 a0020c0026 a0021c0025 a0033c0053 a0035c0052 a0062c0122 a0064c0133 a0065c0127 a0066c0132 a0067c0128 a0068c0130 a0069c0129 a0070c0131 a0071c0126 a0074c0124 a0075c0123 a0161c0065	a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 others(18): Show a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 a0012c0064t0002 a0019c0027t0003 a0020c0026t0001 a0021c0025t0002 a0033c0053t0001 a0035c0052t0003 a0062c0122t0001 a0064c0133t0003 a0065c0127t0001 a0066c0132t0001 a0067c0128t0001 a0068c0130t0001 a0069c0129t0001 a0070c0131t0001 a0071c0126t0001 a0074c0124t0002 a0075c0123t0002 a0161c0065t0002	a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 others(25): Show a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 a0012c0012t0002g0025 a0012c0012t0002g0148 a0012c0063t0002g0149 a0012c0064t0002g0150 a0019c0027t0003g0140 a0019c0027t0003g0145 a0019c0027t0003g0147 a0020c0026t0001g0062 a0020c0026t0001g0217 a0021c0025t0002g0043 a0021c0025t0002g0155 a0033c0053t0001g0042 a0035c0052t0003g0041 a0062c0122t0001g0152 a0064c0133t0003g0146 a0065c0127t0001g0223 a0066c0132t0001g0226 a0067c0128t0001g0218 a0068c0130t0001g0153 a0069c0129t0001g0224 a0070c0131t0001g0225 a0071c0126t0001g0222 a0074c0124t0002g0156 a0075c0123t0002g0154 a0161c0065t0002g0151	37	426	0.0869	0	c.999 others(4): Show c.9999G>A	p.Trp others(5): Show p.Trp3333*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	10071/12793	9999/12186	3333/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305571	G G	C C	stop_gained stop_gained	HIGH	HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0010 a0012 a0019 others(16): Show a0010 a0012 a0019 a0020 a0021 a0033 a0035 a0062 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0074 a0075 a0161	a0010c0010 a0012c0012 a0012c0063 others(18): Show a0010c0010 a0012c0012 a0012c0063 a0012c0064 a0019c0027 a0020c0026 a0021c0025 a0033c0053 a0035c0052 a0062c0122 a0064c0133 a0065c0127 a0066c0132 a0067c0128 a0068c0130 a0069c0129 a0070c0131 a0071c0126 a0074c0124 a0075c0123 a0161c0065	a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 others(18): Show a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 a0012c0064t0002 a0019c0027t0003 a0020c0026t0001 a0021c0025t0002 a0033c0053t0001 a0035c0052t0003 a0062c0122t0001 a0064c0133t0003 a0065c0127t0001 a0066c0132t0001 a0067c0128t0001 a0068c0130t0001 a0069c0129t0001 a0070c0131t0001 a0071c0126t0001 a0074c0124t0002 a0075c0123t0002 a0161c0065t0002	a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 others(25): Show a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 a0012c0012t0002g0025 a0012c0012t0002g0148 a0012c0063t0002g0149 a0012c0064t0002g0150 a0019c0027t0003g0140 a0019c0027t0003g0145 a0019c0027t0003g0147 a0020c0026t0001g0062 a0020c0026t0001g0217 a0021c0025t0002g0043 a0021c0025t0002g0155 a0033c0053t0001g0042 a0035c0052t0003g0041 a0062c0122t0001g0152 a0064c0133t0003g0146 a0065c0127t0001g0223 a0066c0132t0001g0226 a0067c0128t0001g0218 a0068c0130t0001g0153 a0069c0129t0001g0224 a0070c0131t0001g0225 a0071c0126t0001g0222 a0074c0124t0002g0156 a0075c0123t0002g0154 a0161c0065t0002g0151	37	426	0.0869	0	c.931 others(4): Show c.9315C>G	p.Tyr others(5): Show p.Tyr3105*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9387/12793	9315/12186	3105/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305861	G G	A A	stop_gained stop_gained	HIGH	HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0010 a0012 a0019 others(16): Show a0010 a0012 a0019 a0020 a0021 a0033 a0035 a0062 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0074 a0075 a0161	a0010c0010 a0012c0012 a0012c0063 others(18): Show a0010c0010 a0012c0012 a0012c0063 a0012c0064 a0019c0027 a0020c0026 a0021c0025 a0033c0053 a0035c0052 a0062c0122 a0064c0133 a0065c0127 a0066c0132 a0067c0128 a0068c0130 a0069c0129 a0070c0131 a0071c0126 a0074c0124 a0075c0123 a0161c0065	a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 others(18): Show a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 a0012c0064t0002 a0019c0027t0003 a0020c0026t0001 a0021c0025t0002 a0033c0053t0001 a0035c0052t0003 a0062c0122t0001 a0064c0133t0003 a0065c0127t0001 a0066c0132t0001 a0067c0128t0001 a0068c0130t0001 a0069c0129t0001 a0070c0131t0001 a0071c0126t0001 a0074c0124t0002 a0075c0123t0002 a0161c0065t0002	a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 others(25): Show a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 a0012c0012t0002g0025 a0012c0012t0002g0148 a0012c0063t0002g0149 a0012c0064t0002g0150 a0019c0027t0003g0140 a0019c0027t0003g0145 a0019c0027t0003g0147 a0020c0026t0001g0062 a0020c0026t0001g0217 a0021c0025t0002g0043 a0021c0025t0002g0155 a0033c0053t0001g0042 a0035c0052t0003g0041 a0062c0122t0001g0152 a0064c0133t0003g0146 a0065c0127t0001g0223 a0066c0132t0001g0226 a0067c0128t0001g0218 a0068c0130t0001g0153 a0069c0129t0001g0224 a0070c0131t0001g0225 a0071c0126t0001g0222 a0074c0124t0002g0156 a0075c0123t0002g0154 a0161c0065t0002g0151	37	426	0.0869	0	c.902 others(4): Show c.9025C>T	p.Arg others(5): Show p.Arg3009*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9097/12793	9025/12186	3009/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305911	G G	C C	stop_gained stop_gained	HIGH	HG01884.hp2 HG01884.hp2	a0068 a0068	a0068c0130 a0068c0130	a0068c0130t0001 a0068c0130t0001	a0068c0130t0001g0153 a0068c0130t0001g0153	1	426	0.0024	0	c.897 others(4): Show c.8975C>G	p.Ser others(5): Show p.Ser2992*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9047/12793	8975/12186	2992/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152306227	G G	A A	stop_gained stop_gained	HIGH	HG02970.hp1 HG03209.hp1 HG03471.hp1 HG02970.hp1 HG03209.hp1 HG03471.hp1	a0026 a0026	a0026c0033 a0026c0033	a0026c0033t0001 a0026c0033t0001	a0026c0033t0001g0024 a0026c0033t0001g0024	3	426	0.0070	0	c.865 others(4): Show c.8659C>T	p.Gln others(5): Show p.Gln2887*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8731/12793	8659/12186	2887/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152306864	T T	TTGTCCGT others(1942): Show TTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGT GGTGGGATCCATGTCTGTCTCCTGCACTTGATCTTGCCTGTTCATGGGAT GATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTG TCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGG ACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGA TGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCC CTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCC TGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCG GCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTC TCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTG ACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGA TGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCC CTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGAC CGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGG GATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTC AGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAG ACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGG GACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGA ATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCAC TGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTG GAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTGTCTCCTGCACT TGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCT GTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGA CCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAG CTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACC TCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTG GATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGC CTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCG ACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTT CTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCC CTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTA CCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGG TGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCT GTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCC CCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAG AGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGA CTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTG ACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTA CCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02717.hp1 HG02717.hp1	a0098 a0098	a0098c0108 a0098c0108	a0098c0108t0001 a0098c0108t0001	a0098c0108t0001g0196 a0098c0108t0001g0196	1	426	0.0024	1949	c.802 others(1958): Show c.8021_8022insGGACAAGCTTCATCTGCAGTCAGAGACAGTGGACAC CGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGA CTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGC AGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACAT TCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTC CCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGGATCCCGCCATG AGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAGACGGTCAGGAC ACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCA CCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTCCCATCACAGCC ACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGCAGTCAGGATCC AGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCAGGAGACGGCTC CAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCATGCCGACATCT CTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGTCCAGGAGAAGC AGGCGCCAGGGATCCAGTGTGAGCCAGGACAGTGACAGTGAGGGACATTC AGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAACCATCATGGAT CTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCAGGTCCCATCAA GAAGACAGAGCTGGTCATGGGCACTCTGCAGACAGCTCCAGACAATCAGG CACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGCATCATCCCATG AACAGGCAAGATCAAGTGCAGGAGACAGACATGGATCCCACCACCAGCAG TCAGCAGACAGCTCCAGACACTCAGGCATTGGGCACGGACAAGCTTCATC TGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTG ACAATGAGGGACATTCAGAAGACTCAGACACACAGTCAGTGTCAGCCCAC GGACAGGCTGGGTCCCATCAGCAGAGCCACCAAGAGTCCGCACGTGGCCG GTCAGGGGAAACGTCTGGACATTCAGGATCTTTCCTCTACCAGGTGAGCA CTCATGAACAGTCTGAGTCCTCCCATGGATGGACGGGGCCCAGCACTAGA GGAAGACAAGGATCCCGCCATGAGCAGGCACAAGACAGCTCCAGGCACTC AGCATCCCAAGACGGTCAGGACACCATTCGTGGACACCCGGGGTCAAGCA GAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGA CACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGC CTCCCGTGGGCAGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATG AGGAACAATCAGGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAA GCTTCCACTCATGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACA ATCAGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGCCAGG ACAGTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCT GCTTCCAGAAACCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTC CAGACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTG CAGACAGCTCCAGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGT GGACAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGACAG ACATGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCA TTGGGCACGGACA	p.Ala others(6): Show p.Ala2675fs	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8093/12793	8021/12186	2674/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152307198	C C	T T	stop_gained stop_gained	HIGH	HG01255.hp2 HG01255.hp2	a0129 a0129	a0129c0149 a0129c0149	a0129c0149t0001 a0129c0149t0001	a0129c0149t0001g0074 a0129c0149t0001g0074	1	426	0.0024	0	c.768 others(4): Show c.7688G>A	p.Trp others(5): Show p.Trp2563*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	7760/12793	7688/12186	2563/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152307223	C C	A A	stop_gained stop_gained	HIGH	HG02970.hp1 HG03209.hp1 HG03471.hp1 HG02970.hp1 HG03209.hp1 HG03471.hp1	a0026 a0026	a0026c0033 a0026c0033	a0026c0033t0001 a0026c0033t0001	a0026c0033t0001g0024 a0026c0033t0001g0024	3	426	0.0070	0	c.766 others(4): Show c.7663G>T	p.Glu others(5): Show p.Glu2555*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	7735/12793	7663/12186	2555/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152307697	G G	A A	stop_gained stop_gained	HIGH	NA18947.hp2 NA18947.hp2	a0084 a0084	a0084c0082 a0084c0082	a0084c0082t0001 a0084c0082t0001	a0084c0082t0001g0171 a0084c0082t0001g0171	1	426	0.0024	0	c.718 others(4): Show c.7189C>T	p.Gln others(5): Show p.Gln2397*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	7261/12793	7189/12186	2397/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152309169	G G	T T	stop_gained stop_gained	HIGH	HG00558.hp2 HG02027.hp1 HG02976.hp1 others(2): Show HG00558.hp2 HG02027.hp1 HG02976.hp1 HG03225.hp1 NA19030.hp2	a0032 a0123 a0124 a0032 a0123 a0124	a0032c0034 a0123c0144 a0124c0145 a0032c0034 a0123c0144 a0124c0145	a0032c0034t0001 a0123c0144t0001 a0124c0145t0001 a0032c0034t0001 a0123c0144t0001 a0124c0145t0001	a0032c0034t0001g0066 a0032c0034t0001g0237 a0123c0144t0001g0089 others(1): Show a0032c0034t0001g0066 a0032c0034t0001g0237 a0123c0144t0001g0089 a0124c0145t0001g0090	5	426	0.0117	0	c.571 others(4): Show c.5717C>A	p.Ser others(5): Show p.Ser1906*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	5789/12793	5717/12186	1906/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152309785	G G	A A	stop_gained stop_gained	HIGH	NA18959.hp2 NA18959.hp2	a0122 a0122	a0122c0166 a0122c0166	a0122c0166t0001 a0122c0166t0001	a0122c0166t0001g0104 a0122c0166t0001g0104	1	426	0.0024	0	c.510 others(4): Show c.5101C>T	p.Gln others(5): Show p.Gln1701*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	5173/12793	5101/12186	1701/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152313060	G G	T T	stop_gained stop_gained	HIGH	HG01433.hp2 HG01433.hp2	a0062 a0062	a0062c0122 a0062c0122	a0062c0122t0001 a0062c0122t0001	a0062c0122t0001g0152 a0062c0122t0001g0152	1	426	0.0024	0	c.182 others(4): Show c.1826C>A	p.Ser others(4): Show p.Ser609*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	1898/12793	1826/12186	609/4061		chr1	TogoVar
FLYWCH1_chr16_2906931_2956208	2930715	C C	T T	stop_gained stop_gained	HIGH	HG03139.hp2 HG03139.hp2	a0012 a0012	a0012c0047 a0012c0047	a0012c0047t0095 a0012c0047t0095	a0012c0047t0095g0276 a0012c0047t0095g0276	1	416	0.0024	0	c.631 others(3): Show c.631C>T	p.Arg others(4): Show p.Arg211*	FLYWCH1	ENSG00000059122.17	transcript	ENST00000253928.14	protein_coding	4/10	1042/5043	631/2151	211/716		chr16	TogoVar
FMO2_chr1_171180300_171217686	171208951	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.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 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.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 HG02056.hp1 HG02056.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 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.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 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.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 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.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 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 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(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0015 a0002c0002 others(14): Show a0001c0001 a0001c0015 a0002c0002 a0002c0019 a0003c0003 a0003c0016 a0004c0005 a0004c0008 a0004c0009 a0005c0004 a0006c0006 a0009c0011 a0010c0012 a0011c0014 a0012c0013 a0014c0021 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0015t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0014 a0003c0016t0002 a0004c0005t0003 a0004c0008t0002 a0004c0008t0023 a0004c0009t0004 a0005c0004t0003 a0005c0004t0008 a0006c0006t0006 a0006c0006t0011 a0006c0006t0016 a0009c0011t0002 a0010c0012t0002 a0011c0014t0006 a0012c0013t0001 a0014c0021t0002 a0015c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(195): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0002g0090 a0001c0001t0007g0003 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0019 a0001c0001t0007g0057 a0001c0001t0007g0070 a0001c0001t0010g0006 a0001c0001t0010g0030 a0001c0001t0013g0010 a0001c0001t0013g0050 a0001c0001t0013g0065 a0001c0001t0018g0083 a0001c0001t0019g0087 a0001c0001t0020g0089 a0001c0001t0022g0067 a0001c0015t0003g0051 a0001c0015t0003g0072 a0001c0015t0003g0084 a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0011 a0002c0002t0004g0012 a0002c0002t0004g0024 a0002c0002t0004g0028 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0041 a0002c0002t0004g0042 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0138 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0144 a0002c0002t0004g0146 a0002c0002t0004g0149 a0002c0002t0004g0151 a0002c0002t0004g0152 a0002c0002t0004g0173 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0012 a0002c0002t0005g0124 a0002c0002t0005g0125 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0140 a0002c0002t0005g0150 a0002c0002t0025g0024 a0002c0019t0004g0004 a0003c0003t0001g0180 a0003c0003t0002g0001 a0003c0003t0002g0018 a0003c0003t0002g0029 a0003c0003t0002g0045 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0185 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0014g0001 a0003c0003t0014g0045 a0003c0016t0002g0029 a0003c0016t0002g0184 a0004c0005t0003g0005 a0004c0005t0003g0025 a0004c0005t0003g0037 a0004c0005t0003g0040 a0004c0005t0003g0126 a0004c0005t0003g0127 a0004c0005t0003g0132 a0004c0005t0003g0135 a0004c0005t0003g0141 a0004c0005t0003g0145 a0004c0005t0003g0148 a0004c0008t0002g0035 a0004c0008t0002g0107 a0004c0008t0002g0109 a0004c0008t0002g0111 a0004c0008t0002g0147 a0004c0008t0002g0165 a0004c0008t0023g0046 a0004c0009t0004g0016 a0004c0009t0004g0108 a0004c0009t0004g0110 a0004c0009t0004g0174 a0004c0009t0004g0175 a0005c0004t0003g0013 a0005c0004t0003g0017 a0005c0004t0003g0043 a0005c0004t0003g0044 a0005c0004t0003g0153 a0005c0004t0003g0154 a0005c0004t0003g0155 a0005c0004t0003g0156 a0005c0004t0003g0159 a0005c0004t0003g0160 a0005c0004t0003g0161 a0005c0004t0003g0162 a0005c0004t0003g0163 a0005c0004t0003g0164 a0005c0004t0003g0166 a0005c0004t0003g0167 a0005c0004t0003g0169 a0005c0004t0003g0170 a0005c0004t0008g0026 a0005c0004t0008g0027 a0005c0004t0008g0157 a0005c0004t0008g0158 a0005c0004t0008g0168 a0006c0006t0006g0007 a0006c0006t0006g0036 a0006c0006t0006g0112 a0006c0006t0006g0113 a0006c0006t0006g0114 a0006c0006t0006g0115 a0006c0006t0006g0116 a0006c0006t0006g0117 a0006c0006t0006g0118 a0006c0006t0006g0120 a0006c0006t0006g0121 a0006c0006t0006g0122 a0006c0006t0006g0123 a0006c0006t0011g0007 a0006c0006t0011g0119 a0006c0006t0016g0023 a0009c0011t0002g0021 a0009c0011t0002g0106 a0010c0012t0002g0022 a0011c0014t0006g0091 a0011c0014t0006g0095 a0011c0014t0006g0096 a0012c0013t0001g0032 a0012c0013t0001g0064 a0014c0021t0002g0001 a0015c0020t0001g0186	349	366	0.9536	0	c.141 others(4): Show c.1414C>T	p.Gln others(4): Show p.Gln472*	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1480/5215	1414/1608	472/535		chr1	TogoVar
FMO4_chr1_171309183_171347084	171341815	C C	G G	stop_gained stop_gained	HIGH	NA19070.hp2 NA19070.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0040 a0010c0012t0001g0040	1	386	0.0026	0	c.165 others(4): Show c.1653C>G	p.Tyr others(4): Show p.Tyr551*	FMO4	ENSG00000076258.10	transcript	ENST00000367749.4	protein_coding	10/10	2034/2303	1653/1677	551/558		chr1	TogoVar
FNDC11_chr20_63549159_63561695	63556373	C C	A A	stop_gained stop_gained	HIGH	NA19060.hp1 NA19060.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0001 a0003c0011t0001g0001	1	416	0.0024	0	c.710 others(3): Show c.710C>A	p.Ser others(4): Show p.Ser237*	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding	2/2	768/1090	710/957	237/318		chr20	TogoVar
FOLR3_chr11_72130725_72144892	72139671	G G	A A	stop_gained stop_gained	HIGH	HG03130.hp1 HG03130.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0030 a0007c0015t0001g0030	1	384	0.0026	0	c.578 others(3): Show c.578G>A	p.Trp others(4): Show p.Trp193*	FOLR3	ENSG00000110203.10	transcript	ENST00000611028.3	protein_coding	5/5	628/849	578/738	193/245		chr11	TogoVar
FOSL2_chr2_28387858_28422317	28404299	A A	T T	stop_gained stop_gained	HIGH	NA19072.hp2 NA19072.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0117 a0003c0003t0001g0117	1	364	0.0028	0	c.295 others(3): Show c.295A>T	p.Arg others(3): Show p.Arg99*	FOSL2	ENSG00000075426.12	transcript	ENST00000264716.9	protein_coding	2/4	1158/6713	295/981	99/326		chr2	TogoVar
FOXD4L3_chr9_68297867_68310084	68303273	A A	T T	stop_gained stop_gained	HIGH	HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show HG00423.hp1 HG00544.hp2 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0001c0014 others(2): Show a0001c0002 a0001c0003 a0001c0014 a0001c0015 a0007c0011	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0014t0001 a0001c0015t0001 a0007c0011t0001	a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 others(3): Show a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 a0001c0014t0001g0000 a0001c0015t0001g0000 a0007c0011t0001g0000	84	175	0.4800	0	c.322 others(3): Show c.322A>T	p.Lys others(4): Show p.Lys108*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	407/2218	322/1254	108/417		chr9	TogoVar
FOXD4L3_chr9_68297867_68310084	68303286	C C	A A	stop_gained stop_gained	HIGH	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0000 a0001c0014t0001g0000	1	175	0.0057	0	c.335 others(3): Show c.335C>A	p.Ser others(4): Show p.Ser112*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	420/2218	335/1254	112/417		chr9	TogoVar
FOXD4L3_chr9_68297867_68310084	68303731	C C	A A	stop_gained stop_gained	HIGH	HG00621.hp2 HG01168.hp1 HG01169.hp1 others(7): Show HG00621.hp2 HG01168.hp1 HG01169.hp1 HG01517.hp2 HG02055.hp2 HG02630.hp1 HG03654.hp2 HG03704.hp2 HG04115.hp1 NA19001.hp1	a0004 a0006 a0004 a0006	a0004c0005 a0004c0007 a0006c0016 a0004c0005 a0004c0007 a0006c0016	a0004c0005t0001 a0004c0005t0005 a0004c0007t0001 others(1): Show a0004c0005t0001 a0004c0005t0005 a0004c0007t0001 a0006c0016t0001	a0004c0005t0001g0000 a0004c0005t0005g0000 a0004c0007t0001g0000 others(1): Show a0004c0005t0001g0000 a0004c0005t0005g0000 a0004c0007t0001g0000 a0006c0016t0001g0000	10	175	0.0571	0	c.780 others(3): Show c.780C>A	p.Tyr others(4): Show p.Tyr260*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	865/2218	780/1254	260/417		chr9	TogoVar
FOXD4L4_chr9_65732146_65743396	65738362	G G	A A	stop_gained stop_gained	HIGH	HG03688.hp2 HG03688.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0000 a0011c0015t0000	a0011c0015t0000g0000 a0011c0015t0000g0000	1	207	0.0048	0	c.121 others(4): Show c.1217G>A	p.Trp others(4): Show p.Trp406*	FOXD4L4	ENSG00000184659.6	transcript	ENST00000377413.3	protein_coding	1/1	1217/1251	1217/1251	406/416		chr9	TogoVar
FOXD4L6_chr9_41121435_41133681	41127295	G G	T T	stop_gained stop_gained	HIGH	HG01884.hp2 HG01884.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0015 a0008c0009t0015	a0008c0009t0015g0000 a0008c0009t0015g0000	1	325	0.0031	0	c.108 others(4): Show c.1089C>A	p.Cys others(4): Show p.Cys363*	FOXD4L6	ENSG00000273514.2	transcript	ENST00000622588.2	protein_coding	1/1	1387/2247	1089/1254	363/417		chr9	TogoVar
FOXL2NB_chr3_138942217_138958990	138950388	C C	A A	stop_gained stop_gained	HIGH	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0031 a0005c0010t0031	a0005c0010t0031g0007 a0005c0010t0031g0007	1	396	0.0025	0	c.344 others(3): Show c.344C>A	p.Ser others(4): Show p.Ser115*	FOXL2NB	ENSG00000206262.9	transcript	ENST00000383165.4	protein_coding	3/3	492/4094	344/528	115/175		chr3	TogoVar
FPGT_chr1_74193242_74213702	74198327	C C	T T	stop_gained stop_gained	HIGH	NA18967.hp2 NA18990.hp2 NA18967.hp2 NA18990.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0001 a0002c0006t0001g0001	2	380	0.0053	0	c.49C others(2): Show c.49C>T	p.Gln others(3): Show p.Gln17*	FPGT	ENSG00000254685.8	transcript	ENST00000370898.9	protein_coding	1/4	86/4692	49/1785	17/594		chr1	TogoVar
FRAS1_chr4_78052323_78549269	78387456	C C	T T	stop_gained stop_gained	HIGH	HG00673.hp1 HG00673.hp1	a0055 a0055	a0055c0026 a0055c0026	a0055c0026t0003 a0055c0026t0003	a0055c0026t0003g0063 a0055c0026t0003g0063	1	178	0.0056	0	c.373 others(4): Show c.3730C>T	p.Arg others(5): Show p.Arg1244*	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	29/74	4417/15871	3730/12039	1244/4012		chr4	TogoVar
FRG2_chr4_190019367_190032256	190025860	G G	A A	stop_gained stop_gained	HIGH	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0012 a0005c0005t0012	a0005c0005t0012g0019 a0005c0005t0012g0019	1	400	0.0025	0	c.541 others(3): Show c.541C>T	p.Arg others(4): Show p.Arg181*	FRG2	ENSG00000205097.7	transcript	ENST00000504750.6	protein_coding	4/4	593/2086	541/840	181/279		chr4	TogoVar
FRMPD4_chrX_12133473_12729523	12716725	T T	TGA TGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0121 a0007c0016t0001g0121	1	174	0.0058	2	c.226 others(11): Show c.2267_2268insAG	p.Cys others(5): Show p.Cys756fs	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	15/17	2767/8453	2268/5289	756/1762	INFO_REALIGN_3_PRIME	chrX	TogoVar
FSCB_chr14_44499149_44512283	44504951	A A	AGGGGCCT others(30): Show AGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19075.hp2 NA19075.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0002 a0016c0023t0002	a0016c0023t0002g0000 a0016c0023t0002g0000	1	446	0.0022	37	c.203 others(46): Show c.2036_2037insCCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCC C	p.Ala others(5): Show p.Ala680fs	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2332/3135	2036/2478	679/825		chr14	TogoVar
FSCB_chr14_44499149_44512283	44504985	G G	GAGGGGGC others(30): Show GAGGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19030.hp2 NA19030.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0002 a0018c0022t0002	a0018c0022t0002g0000 a0018c0022t0002g0000	1	446	0.0022	37	c.200 others(46): Show c.2002_2003insGCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCC T	p.Ala others(5): Show p.Ala668fs	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2298/3135	2002/2478	668/825		chr14	TogoVar
FSCB_chr14_44499149_44512283	44506525	G G	A A	stop_gained stop_gained	HIGH	HG02280.hp2 HG02280.hp2	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0000 a0014c0029t0001g0000	1	446	0.0022	0	c.463 others(3): Show c.463C>T	p.Gln others(4): Show p.Gln155*	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	759/3135	463/2478	155/825		chr14	TogoVar
FSCB_chr14_44499149_44512283	44506568	C C	T T	stop_gained stop_gained	HIGH	HG03098.hp1 HG06807.hp1 HG03098.hp1 HG06807.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0005 a0012c0015t0005	a0012c0015t0005g0000 a0012c0015t0005g0000	2	446	0.0045	0	c.420 others(3): Show c.420G>A	p.Trp others(4): Show p.Trp140*	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	716/3135	420/2478	140/825		chr14	TogoVar
FSCN3_chr7_127588736_127607144	127599527	C C	T T	stop_gained stop_gained	HIGH	NA18747.hp1 NA19009.hp2 NA18747.hp1 NA19009.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0001 a0009c0009t0001g0047 a0009c0009t0001g0001 a0009c0009t0001g0047	2	420	0.0048	0	c.126 others(4): Show c.1267C>T	p.Arg others(4): Show p.Arg423*	FSCN3	ENSG00000106328.10	transcript	ENST00000265825.6	protein_coding	5/7	1385/2137	1267/1497	423/498		chr7	TogoVar
FSD2_chr15_82750362_82811069	82782857	A A	AAGTATCT others(13): Show AAGTATCTAGGTTTTCTCCAC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19081.hp2 NA19081.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0004 a0010c0010t0004	a0010c0010t0004g0358 a0010c0010t0004g0358	1	384	0.0026	20	c.884 others(27): Show c.884_903dupGTGGAGAAAACCTAGATACT	p.Cys others(5): Show p.Cys302fs	FSD2	ENSG00000186628.12	transcript	ENST00000334574.12	protein_coding	4/13	1085/6418	903/2250	301/749		chr15	TogoVar
FSIP2_chr2_185733804_185838290	185801624	C C	G G	stop_gained stop_gained	HIGH	HG02055.hp2 HG02055.hp2	a0049 a0049	a0049c0070 a0049c0070	a0049c0070t0001 a0049c0070t0001	a0049c0070t0001g0271 a0049c0070t0001g0271	1	370	0.0027	0	c.123 others(5): Show c.12318C>G	p.Tyr others(5): Show p.Tyr4106*	FSIP2	ENSG00000188738.16	transcript	ENST00000424728.6	protein_coding	17/23	12409/20879	12318/20724	4106/6907		chr2	TogoVar
FSTL3_chr19_671392_688385	681489	C C	A A	stop_gained stop_gained	HIGH	NA19082.hp2 NA19082.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0039 a0003c0004t0005g0039	1	434	0.0023	0	c.662 others(3): Show c.662C>A	p.Ser others(4): Show p.Ser221*	FSTL3	ENSG00000070404.10	transcript	ENST00000166139.9	protein_coding	4/5	694/2501	662/792	221/263		chr19	TogoVar
FTCD_chr21_46131779_46160579	46145471	C C	CGAAGCCT others(40): Show CGAAGCCTCGCGGAAGGGCGGGATCAGGCGCCGCATCGTCGTGTCCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG04184.hp2 HG04184.hp2	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0002 a0014c0027t0002	a0014c0027t0002g0073 a0014c0027t0002g0073	1	230	0.0044	47	c.115 others(56): Show c.1159_1205dupCTGGACACGACGATGCGGCGCCTGATCCCGCCCTTC CGCGAGGCTTC	p.Ala others(5): Show p.Ala403fs	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/14	1261/1890	1205/1626	402/541		chr21	TogoVar
FTHL17_chrX_31066233_31077041	31071512	C C	A A	stop_gained stop_gained	HIGH	HG00408.hp2 HG00544.hp2 HG02165.hp2 others(34): Show HG00408.hp2 HG00544.hp2 HG02165.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03927.hp2 HG04184.hp2 NA18612.hp1 NA18939.hp1 NA18943.hp1 NA18952.hp1 NA18964.hp1 NA18965.hp1 NA18975.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18992.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19006.hp1 NA19010.hp1 NA19054.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0002c0004 a0004c0006 others(1): Show a0002c0003 a0002c0004 a0004c0006 a0006c0007	a0002c0003t0001 a0002c0004t0001 a0004c0006t0001 others(1): Show a0002c0003t0001 a0002c0004t0001 a0004c0006t0001 a0006c0007t0001	a0002c0003t0001g0000 a0002c0004t0001g0000 a0004c0006t0001g0000 others(1): Show a0002c0003t0001g0000 a0002c0004t0001g0000 a0004c0006t0001g0000 a0006c0007t0001g0000	37	336	0.1101	0	c.442 others(3): Show c.442G>T	p.Glu others(4): Show p.Glu148*	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding	1/1	530/809	442/552	148/183		chrX	TogoVar
FTHL17_chrX_31066233_31077041	31071864	G G	T T	stop_gained stop_gained	HIGH	HG04184.hp2 HG04184.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	1	336	0.0030	0	c.90C others(2): Show c.90C>A	p.Tyr others(3): Show p.Tyr30*	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding	1/1	178/809	90/552	30/183		chrX	TogoVar
FTSJ1_chrX_48471199_48491350	48481655	T T	TA TA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19055.hp1 NA19055.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0008 a0005c0008t0008	a0005c0008t0008g0029 a0005c0008t0008g0029	1	308	0.0033	1	c.596 others(4): Show c.596dupA	p.Tyr others(5): Show p.Tyr199fs	FTSJ1	ENSG00000068438.15	transcript	ENST00000348411.3	protein_coding	9/13	882/1899	597/990	199/329	INFO_REALIGN_3_PRIME	chrX	TogoVar
FUT2_chr19_48690971_48710951	48703417	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0022 a0002c0002 a0002c0008 a0002c0022	a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 others(13): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0015 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0008t0010 a0002c0022t0003	a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0017 others(51): Show a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0030 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0110 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0139 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0017 a0002c0002t0005g0022 a0002c0002t0005g0046 a0002c0002t0005g0072 a0002c0002t0005g0101 a0002c0002t0005g0111 a0002c0002t0008g0013 a0002c0002t0008g0019 a0002c0002t0008g0033 a0002c0002t0008g0054 a0002c0002t0011g0013 a0002c0002t0011g0041 a0002c0002t0011g0080 a0002c0002t0011g0086 a0002c0002t0012g0019 a0002c0002t0012g0038 a0002c0002t0012g0059 a0002c0002t0014g0038 a0002c0002t0014g0041 a0002c0002t0014g0102 a0002c0002t0015g0013 a0002c0002t0015g0019 a0002c0002t0015g0033 a0002c0002t0020g0008 a0002c0002t0020g0021 a0002c0002t0021g0004 a0002c0002t0021g0021 a0002c0002t0022g0055 a0002c0002t0022g0056 a0002c0002t0033g0127 a0002c0002t0034g0124 a0002c0002t0035g0058 a0002c0002t0036g0057 a0002c0008t0010g0014 a0002c0022t0003g0099	91	394	0.2310	0	c.461 others(3): Show c.461G>A	p.Trp others(4): Show p.Trp154*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	582/3116	461/1032	154/343		chr19	TogoVar
FUT2_chr19_48690971_48710951	48703560	C C	T T	stop_gained stop_gained	HIGH	NA18954.hp2 NA18954.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0140 a0014c0019t0001g0140	1	394	0.0025	0	c.604 others(3): Show c.604C>T	p.Arg others(4): Show p.Arg202*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	725/3116	604/1032	202/343		chr19	TogoVar
FUT2_chr19_48690971_48710951	48703617	C C	T T	stop_gained stop_gained	HIGH	NA18950.hp2 NA18950.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0003 a0015c0016t0001g0003	1	394	0.0025	0	c.661 others(3): Show c.661C>T	p.Arg others(4): Show p.Arg221*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	782/3116	661/1032	221/343		chr19	TogoVar
FUT2_chr19_48690971_48710951	48703838	G G	A A	stop_gained stop_gained	HIGH	HG02027.hp1 HG02027.hp1	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0009 a0017c0015t0009	a0017c0015t0009g0023 a0017c0015t0009g0023	1	394	0.0025	0	c.882 others(3): Show c.882G>A	p.Trp others(4): Show p.Trp294*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	1003/3116	882/1032	294/343		chr19	TogoVar
FUT6_chr19_5825408_5844702	5831623	G G	T T	stop_gained stop_gained	HIGH	HG01261.hp2 HG02083.hp2 HG02523.hp2 others(14): Show HG01261.hp2 HG02083.hp2 HG02523.hp2 HG02602.hp2 HG03239.hp1 HG03239.hp2 HG03704.hp2 HG03831.hp2 HG04199.hp2 NA18612.hp1 NA18945.hp1 NA18971.hp1 NA18972.hp2 NA19011.hp1 NA19060.hp1 NA19079.hp2 NA19087.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0003 a0006c0005t0008 others(4): Show a0006c0005t0001 a0006c0005t0003 a0006c0005t0008 a0006c0005t0029 a0006c0005t0038 a0006c0005t0052 a0006c0005t0053	a0006c0005t0001g0015 a0006c0005t0001g0087 a0006c0005t0001g0115 others(8): Show a0006c0005t0001g0015 a0006c0005t0001g0087 a0006c0005t0001g0115 a0006c0005t0003g0041 a0006c0005t0003g0072 a0006c0005t0008g0081 a0006c0005t0029g0080 a0006c0005t0029g0085 a0006c0005t0038g0066 a0006c0005t0052g0079 a0006c0005t0053g0082	17	436	0.0390	0	c.945 others(3): Show c.945C>A	p.Tyr others(4): Show p.Tyr315*	FUT6	ENSG00000156413.15	transcript	ENST00000318336.10	protein_coding	3/3	2111/3326	945/1080	315/359		chr19	TogoVar
FUZ_chr19_49801866_49818292	49807343	C C	CTCATCTT others(3): Show CTCATCTTCTG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18978.hp2 NA18978.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0080 a0009c0012t0001g0080	1	410	0.0024	10	c.105 others(19): Show c.1055_1064dupCAGAAGATGA	p.Glu others(5): Show p.Glu355fs	FUZ	ENSG00000010361.14	transcript	ENST00000313777.9	protein_coding	11/11	1250/1728	1064/1257	355/418		chr19	TogoVar

Search by Variant

Search

Search Results (Total: 3004 hits)