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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ANKRD31_chr5_75063297_75241878	75104691	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00438.hp2 HG00544.hp2 others(58): Show HG00140.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00741.hp1 HG01256.hp2 HG01515.hp2 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02523.hp2 HG02723.hp2 HG02809.hp2 HG02970.hp1 HG03209.hp1 HG03490.hp1 HG03492.hp2 HG03834.hp2 HG04204.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18977.hp2 NA18991.hp2 NA18999.hp2 NA19001.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19068.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1	a0003 a0010 a0011 others(3): Show a0003 a0010 a0011 a0024 a0025 a0029	a0003c0003 a0010c0012 a0011c0011 others(3): Show a0003c0003 a0010c0012 a0011c0011 a0024c0028 a0025c0025 a0029c0029	a0003c0003t0001 a0010c0012t0001 a0011c0011t0001 others(3): Show a0003c0003t0001 a0010c0012t0001 a0011c0011t0001 a0024c0028t0001 a0025c0025t0001 a0029c0029t0001	a0003c0003t0001g0002 a0003c0003t0001g0057 a0003c0003t0001g0093 others(57): Show a0003c0003t0001g0002 a0003c0003t0001g0057 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0097 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0169 a0003c0003t0001g0316 a0010c0012t0001g0101 a0010c0012t0001g0102 a0010c0012t0001g0103 a0010c0012t0001g0138 a0011c0011t0001g0029 a0011c0011t0001g0031 a0011c0011t0001g0032 a0011c0011t0001g0038 a0024c0028t0001g0098 a0025c0025t0001g0096 a0029c0029t0001g0125	61	334	0.1826	c.486 others(4): Show c.4868C>G	p.Thr others(7): Show p.Thr1623Arg	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	22/26	5060/6207	4868/5793	1623/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75104788	A A	G G	missense_variant missense_variant	MODERATE	HG02896.hp2 HG02896.hp2	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0287 a0023c0027t0001g0287	1	334	0.0030	c.477 others(4): Show c.4771T>C	p.Ser others(7): Show p.Ser1591Pro	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	22/26	4963/6207	4771/5793	1591/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75116663	C C	T T	missense_variant missense_variant	MODERATE	HG02970.hp1 HG03209.hp1 NA19030.hp1 others(1): Show HG02970.hp1 HG03209.hp1 NA19030.hp1 NA19043.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0101 a0010c0012t0001g0102 a0010c0012t0001g0103 others(1): Show a0010c0012t0001g0101 a0010c0012t0001g0102 a0010c0012t0001g0103 a0010c0012t0001g0138	4	334	0.0120	c.405 others(4): Show c.4058G>A	p.Arg others(7): Show p.Arg1353Gln	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	19/26	4250/6207	4058/5793	1353/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75144100	T T	C C	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0022 a0022	a0022c0026 a0022c0026	a0022c0026t0001 a0022c0026t0001	a0022c0026t0001g0303 a0022c0026t0001g0303	1	334	0.0030	c.349 others(4): Show c.3496A>G	p.Thr others(7): Show p.Thr1166Ala	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	15/26	3688/6207	3496/5793	1166/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75146083	T T	G G	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18991.hp1 NA19060.hp1 NA18948.hp2 NA18991.hp1 NA19060.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0036 a0013c0013t0001g0039 a0013c0013t0001g0040 a0013c0013t0001g0036 a0013c0013t0001g0039 a0013c0013t0001g0040	3	334	0.0090	c.332 others(4): Show c.3328A>C	p.Asn others(7): Show p.Asn1110His	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	14/26	3520/6207	3328/5793	1110/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75146110	T T	C C	missense_variant missense_variant	MODERATE	NA18953.hp1 NA18953.hp1	a0020 a0020	a0020c0032 a0020c0032	a0020c0032t0002 a0020c0032t0002	a0020c0032t0002g0196 a0020c0032t0002g0196	1	334	0.0030	c.330 others(4): Show c.3301A>G	p.Asn others(7): Show p.Asn1101Asp	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	14/26	3493/6207	3301/5793	1101/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75146131	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0018 a0018	a0018c0035 a0018c0035	a0018c0035t0001 a0018c0035t0001	a0018c0035t0001g0155 a0018c0035t0001g0155	1	334	0.0030	c.328 others(4): Show c.3280A>G	p.Lys others(7): Show p.Lys1094Glu	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	14/26	3472/6207	3280/5793	1094/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75146325	T T	C C	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0001 a0017c0018t0001	a0017c0018t0001g0326 a0017c0018t0001g0327 a0017c0018t0001g0326 a0017c0018t0001g0327	2	334	0.0060	c.308 others(4): Show c.3086A>G	p.Glu others(7): Show p.Glu1029Gly	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	14/26	3278/6207	3086/5793	1029/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75146950	C C	T T	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0026 a0026	a0026c0024 a0026c0024	a0026c0024t0007 a0026c0024t0007	a0026c0024t0007g0016 a0026c0024t0007g0016	1	334	0.0030	c.246 others(4): Show c.2461G>A	p.Val others(6): Show p.Val821Ile	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	14/26	2653/6207	2461/5793	821/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75147139	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00438.hp2 HG00544.hp2 others(68): Show HG00140.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00741.hp1 HG01175.hp1 HG01256.hp2 HG01934.hp2 HG01943.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG04204.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18975.hp2 NA18977.hp2 NA18991.hp2 NA18999.hp2 NA19001.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19068.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1	a0003 a0006 a0010 others(4): Show a0003 a0006 a0010 a0015 a0024 a0025 a0029	a0003c0003 a0006c0006 a0010c0012 others(5): Show a0003c0003 a0006c0006 a0010c0012 a0015c0033 a0015c0034 a0024c0028 a0025c0025 a0029c0029	a0003c0003t0001 a0006c0006t0001 a0006c0006t0003 others(7): Show a0003c0003t0001 a0006c0006t0001 a0006c0006t0003 a0006c0006t0004 a0010c0012t0001 a0015c0033t0001 a0015c0034t0001 a0024c0028t0001 a0025c0025t0001 a0029c0029t0001	a0003c0003t0001g0002 a0003c0003t0001g0057 a0003c0003t0001g0093 others(67): Show a0003c0003t0001g0002 a0003c0003t0001g0057 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0097 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0169 a0003c0003t0001g0316 a0006c0006t0001g0052 a0006c0006t0001g0053 a0006c0006t0001g0058 a0006c0006t0001g0059 a0006c0006t0001g0060 a0006c0006t0001g0164 a0006c0006t0001g0165 a0006c0006t0001g0167 a0006c0006t0001g0315 a0006c0006t0003g0013 a0006c0006t0004g0007 a0006c0006t0004g0008 a0010c0012t0001g0101 a0010c0012t0001g0102 a0010c0012t0001g0103 a0010c0012t0001g0138 a0015c0033t0001g0168 a0015c0034t0001g0166 a0024c0028t0001g0098 a0025c0025t0001g0096 a0029c0029t0001g0125	71	334	0.2126	c.227 others(4): Show c.2272A>G	p.Arg others(6): Show p.Arg758Gly	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	14/26	2464/6207	2272/5793	758/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75147307	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp1 HG00438.hp2 others(218): Show HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 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 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(22): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0017 a0018 a0019 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030	a0002c0002 a0002c0022 a0003c0003 others(27): Show a0002c0002 a0002c0022 a0003c0003 a0004c0005 a0004c0009 a0004c0021 a0005c0004 a0006c0006 a0007c0007 a0008c0008 a0009c0010 a0009c0037 a0010c0012 a0011c0011 a0013c0013 a0014c0017 a0015c0033 a0015c0034 a0017c0018 a0018c0035 a0019c0023 a0022c0026 a0023c0027 a0024c0028 a0025c0025 a0026c0024 a0027c0019 a0028c0020 a0029c0029 a0030c0036	a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 others(33): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0002c0022t0001 a0003c0003t0001 a0004c0005t0001 a0004c0009t0001 a0004c0009t0003 a0004c0021t0001 a0005c0004t0001 a0006c0006t0001 a0006c0006t0003 a0006c0006t0004 a0007c0007t0001 a0008c0008t0001 a0008c0008t0010 a0009c0010t0001 a0009c0037t0001 a0010c0012t0001 a0011c0011t0001 a0013c0013t0001 a0014c0017t0001 a0015c0033t0001 a0015c0034t0001 a0017c0018t0001 a0018c0035t0001 a0019c0023t0009 a0022c0026t0001 a0023c0027t0001 a0024c0028t0001 a0025c0025t0001 a0026c0024t0007 a0027c0019t0003 a0028c0020t0001 a0029c0029t0001 a0030c0036t0001	a0002c0002t0001g0001 a0002c0002t0001g0021 a0002c0002t0001g0022 others(214): Show a0002c0002t0001g0001 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0003g0009 a0002c0002t0003g0010 a0002c0002t0008g0083 a0002c0022t0001g0078 a0003c0003t0001g0002 a0003c0003t0001g0057 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0097 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0169 a0003c0003t0001g0316 a0004c0005t0001g0005 a0004c0005t0001g0304 a0004c0005t0001g0305 a0004c0005t0001g0306 a0004c0005t0001g0307 a0004c0005t0001g0308 a0004c0005t0001g0309 a0004c0005t0001g0310 a0004c0005t0001g0311 a0004c0005t0001g0312 a0004c0005t0001g0313 a0004c0005t0001g0314 a0004c0009t0001g0157 a0004c0009t0001g0158 a0004c0009t0001g0159 a0004c0009t0001g0160 a0004c0009t0001g0161 a0004c0009t0001g0162 a0004c0009t0001g0163 a0004c0009t0001g0318 a0004c0009t0001g0319 a0004c0009t0003g0012 a0004c0021t0001g0317 a0005c0004t0001g0286 a0005c0004t0001g0288 a0005c0004t0001g0289 a0005c0004t0001g0290 a0005c0004t0001g0291 a0005c0004t0001g0292 a0005c0004t0001g0293 a0005c0004t0001g0294 a0005c0004t0001g0295 a0005c0004t0001g0296 a0005c0004t0001g0297 a0005c0004t0001g0298 a0005c0004t0001g0299 a0005c0004t0001g0300 a0005c0004t0001g0301 a0005c0004t0001g0302 a0006c0006t0001g0052 a0006c0006t0001g0053 a0006c0006t0001g0058 a0006c0006t0001g0059 a0006c0006t0001g0060 a0006c0006t0001g0164 a0006c0006t0001g0165 a0006c0006t0001g0167 a0006c0006t0001g0315 a0006c0006t0003g0013 a0006c0006t0004g0007 a0006c0006t0004g0008 a0007c0007t0001g0145 a0007c0007t0001g0146 a0007c0007t0001g0147 a0007c0007t0001g0148 a0007c0007t0001g0149 a0007c0007t0001g0150 a0007c0007t0001g0151 a0007c0007t0001g0152 a0007c0007t0001g0153 a0007c0007t0001g0154 a0007c0007t0001g0156 a0008c0008t0001g0172 a0008c0008t0001g0173 a0008c0008t0001g0174 a0008c0008t0001g0175 a0008c0008t0001g0176 a0008c0008t0001g0177 a0008c0008t0001g0178 a0008c0008t0001g0179 a0008c0008t0001g0180 a0008c0008t0001g0181 a0008c0008t0010g0328 a0009c0010t0001g0006 a0009c0010t0001g0321 a0009c0010t0001g0322 a0009c0010t0001g0323 a0009c0010t0001g0324 a0009c0037t0001g0320 a0010c0012t0001g0101 a0010c0012t0001g0102 a0010c0012t0001g0103 a0010c0012t0001g0138 a0011c0011t0001g0029 a0011c0011t0001g0031 a0011c0011t0001g0032 a0011c0011t0001g0038 a0013c0013t0001g0036 a0013c0013t0001g0039 a0013c0013t0001g0040 a0014c0017t0001g0170 a0014c0017t0001g0171 a0015c0033t0001g0168 a0015c0034t0001g0166 a0017c0018t0001g0326 a0017c0018t0001g0327 a0018c0035t0001g0155 a0019c0023t0009g0285 a0022c0026t0001g0303 a0023c0027t0001g0287 a0024c0028t0001g0098 a0025c0025t0001g0096 a0026c0024t0007g0016 a0027c0019t0003g0011 a0028c0020t0001g0090 a0029c0029t0001g0125 a0030c0036t0001g0325	221	334	0.6617	c.210 others(4): Show c.2104G>A	p.Asp others(6): Show p.Asp702Asn	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	14/26	2296/6207	2104/5793	702/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75147478	T T	C C	missense_variant missense_variant	MODERATE	NA18747.hp2 NA18974.hp2 NA18747.hp2 NA18974.hp2	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0002 a0016c0016t0002	a0016c0016t0002g0272 a0016c0016t0002g0282 a0016c0016t0002g0272 a0016c0016t0002g0282	2	334	0.0060	c.193 others(4): Show c.1933A>G	p.Ile others(6): Show p.Ile645Val	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	14/26	2125/6207	1933/5793	645/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75168992	T T	C C	missense_variant missense_variant	MODERATE	HG01123.hp2 HG01123.hp2	a0028 a0028	a0028c0020 a0028c0020	a0028c0020t0001 a0028c0020t0001	a0028c0020t0001g0090 a0028c0020t0001g0090	1	334	0.0030	c.169 others(4): Show c.1694A>G	p.Asn others(6): Show p.Asn565Ser	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	11/26	1886/6207	1694/5793	565/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75188504	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0024 a0024	a0024c0028 a0024c0028	a0024c0028t0001 a0024c0028t0001	a0024c0028t0001g0098 a0024c0028t0001g0098	1	334	0.0030	c.155 others(4): Show c.1553C>T	p.Pro others(6): Show p.Pro518Leu	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	10/26	1745/6207	1553/5793	518/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75192765	G G	A A	missense_variant missense_variant	MODERATE	HG00642.hp1 HG01192.hp2 HG01261.hp2 others(15): Show HG00642.hp1 HG01192.hp2 HG01261.hp2 HG02559.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0005 a0022 a0023 a0005 a0022 a0023	a0005c0004 a0022c0026 a0023c0027 a0005c0004 a0022c0026 a0023c0027	a0005c0004t0001 a0022c0026t0001 a0023c0027t0001 a0005c0004t0001 a0022c0026t0001 a0023c0027t0001	a0005c0004t0001g0286 a0005c0004t0001g0288 a0005c0004t0001g0289 others(15): Show a0005c0004t0001g0286 a0005c0004t0001g0288 a0005c0004t0001g0289 a0005c0004t0001g0290 a0005c0004t0001g0291 a0005c0004t0001g0292 a0005c0004t0001g0293 a0005c0004t0001g0294 a0005c0004t0001g0295 a0005c0004t0001g0296 a0005c0004t0001g0297 a0005c0004t0001g0298 a0005c0004t0001g0299 a0005c0004t0001g0300 a0005c0004t0001g0301 a0005c0004t0001g0302 a0022c0026t0001g0303 a0023c0027t0001g0287	18	334	0.0539	c.131 others(4): Show c.1310C>T	p.Pro others(6): Show p.Pro437Leu	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	9/26	1502/6207	1310/5793	437/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75195854	G G	C C	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0029 a0029	a0029c0029 a0029c0029	a0029c0029t0001 a0029c0029t0001	a0029c0029t0001g0125 a0029c0029t0001g0125	1	334	0.0030	c.794 others(3): Show c.794C>G	p.Pro others(6): Show p.Pro265Arg	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	7/26	986/6207	794/5793	265/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75195917	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0009 a0019c0023t0009	a0019c0023t0009g0285 a0019c0023t0009g0285	1	334	0.0030	c.731 others(3): Show c.731G>A	p.Ser others(6): Show p.Ser244Asn	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	7/26	923/6207	731/5793	244/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75195962	G G	A A	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0030 a0030	a0030c0036 a0030c0036	a0030c0036t0001 a0030c0036t0001	a0030c0036t0001g0325 a0030c0036t0001g0325	1	334	0.0030	c.686 others(3): Show c.686C>T	p.Thr others(6): Show p.Thr229Ile	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	7/26	878/6207	686/5793	229/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75196073	T T	A A	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02723.hp1 HG02647.hp1 HG02723.hp1	a0015 a0015	a0015c0033 a0015c0034 a0015c0033 a0015c0034	a0015c0033t0001 a0015c0034t0001 a0015c0033t0001 a0015c0034t0001	a0015c0033t0001g0168 a0015c0034t0001g0166 a0015c0033t0001g0168 a0015c0034t0001g0166	2	334	0.0060	c.575 others(3): Show c.575A>T	p.Asn others(6): Show p.Asn192Ile	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	7/26	767/6207	575/5793	192/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75196131	T T	C C	missense_variant missense_variant	MODERATE	HG00621.hp1 HG00735.hp2 HG01081.hp1 others(23): Show HG00621.hp1 HG00735.hp2 HG01081.hp1 HG01891.hp1 HG02040.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02922.hp1 HG02965.hp1 HG03139.hp1 HG03490.hp2 HG04184.hp2 NA18522.hp2 NA18960.hp1 NA18967.hp2 NA18974.hp1 NA18995.hp2 NA19005.hp1 NA19065.hp2 NA19240.hp1 NA21309.hp1	a0007 a0008 a0014 others(2): Show a0007 a0008 a0014 a0018 a0030	a0007c0007 a0008c0008 a0014c0017 others(2): Show a0007c0007 a0008c0008 a0014c0017 a0018c0035 a0030c0036	a0007c0007t0001 a0008c0008t0001 a0008c0008t0010 others(3): Show a0007c0007t0001 a0008c0008t0001 a0008c0008t0010 a0014c0017t0001 a0018c0035t0001 a0030c0036t0001	a0007c0007t0001g0145 a0007c0007t0001g0146 a0007c0007t0001g0147 others(23): Show a0007c0007t0001g0145 a0007c0007t0001g0146 a0007c0007t0001g0147 a0007c0007t0001g0148 a0007c0007t0001g0149 a0007c0007t0001g0150 a0007c0007t0001g0151 a0007c0007t0001g0152 a0007c0007t0001g0153 a0007c0007t0001g0154 a0007c0007t0001g0156 a0008c0008t0001g0172 a0008c0008t0001g0173 a0008c0008t0001g0174 a0008c0008t0001g0175 a0008c0008t0001g0176 a0008c0008t0001g0177 a0008c0008t0001g0178 a0008c0008t0001g0179 a0008c0008t0001g0180 a0008c0008t0001g0181 a0008c0008t0010g0328 a0014c0017t0001g0170 a0014c0017t0001g0171 a0018c0035t0001g0155 a0030c0036t0001g0325	26	334	0.0778	c.517 others(3): Show c.517A>G	p.Thr others(6): Show p.Thr173Ala	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	7/26	709/6207	517/5793	173/1930	chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75222356	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00735.hp2 HG01081.hp1 HG01891.hp1 others(9): Show HG00735.hp2 HG01081.hp1 HG01891.hp1 HG02055.hp1 HG02280.hp2 HG02622.hp2 HG02922.hp1 HG02965.hp1 HG03139.hp1 NA18522.hp2 NA19240.hp1 NA21309.hp1	a0008 a0030 a0008 a0030	a0008c0008 a0030c0036 a0008c0008 a0030c0036	a0008c0008t0001 a0008c0008t0010 a0030c0036t0001 a0008c0008t0001 a0008c0008t0010 a0030c0036t0001	a0008c0008t0001g0172 a0008c0008t0001g0173 a0008c0008t0001g0174 others(9): Show a0008c0008t0001g0172 a0008c0008t0001g0173 a0008c0008t0001g0174 a0008c0008t0001g0175 a0008c0008t0001g0176 a0008c0008t0001g0177 a0008c0008t0001g0178 a0008c0008t0001g0179 a0008c0008t0001g0180 a0008c0008t0001g0181 a0008c0008t0010g0328 a0030c0036t0001g0325	12	334	0.0359	c.181 others(3): Show c.181A>G	p.Met others(5): Show p.Met61Val	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	3/26	373/6207	181/5793	61/1930	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10618460	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18950.hp1 NA18950.hp1	a0010 a0010	a0010c0036 a0010c0036	a0010c0036t0001 a0010c0036t0001	a0010c0036t0001g0047 a0010c0036t0001g0047	1	324	0.0031	c.494 others(3): Show c.494C>T	p.Ala others(6): Show p.Ala165Val	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	2/4	892/9586	494/1485	165/494	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10638036	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02258.hp2 HG02572.hp2 others(2): Show HG02257.hp2 HG02258.hp2 HG02572.hp2 HG02886.hp2 HG03471.hp2	a0004 a0004	a0004c0016 a0004c0019 a0004c0035 a0004c0016 a0004c0019 a0004c0035	a0004c0016t0001 a0004c0019t0028 a0004c0035t0001 a0004c0016t0001 a0004c0019t0028 a0004c0035t0001	a0004c0016t0001g0007 a0004c0016t0001g0010 a0004c0019t0028g0011 others(2): Show a0004c0016t0001g0007 a0004c0016t0001g0010 a0004c0019t0028g0011 a0004c0019t0028g0207 a0004c0035t0001g0122	5	324	0.0154	c.505 others(3): Show c.505A>G	p.Ile others(6): Show p.Ile169Val	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/4	903/9586	505/1485	169/494	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10649370	G G	A A	missense_variant missense_variant	MODERATE	NA19010.hp2 NA19010.hp2	a0009 a0009	a0009c0032 a0009c0032	a0009c0032t0003 a0009c0032t0003	a0009c0032t0003g0271 a0009c0032t0003g0271	1	324	0.0031	c.742 others(3): Show c.742G>A	p.Glu others(6): Show p.Glu248Lys	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	4/4	1140/9586	742/1485	248/494	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10649433	G G	A A	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0008 a0008	a0008c0029 a0008c0029	a0008c0029t0041 a0008c0029t0041	a0008c0029t0041g0133 a0008c0029t0041g0133	1	324	0.0031	c.805 others(3): Show c.805G>A	p.Ala others(6): Show p.Ala269Thr	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	4/4	1203/9586	805/1485	269/494	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10649703	G G	A A	missense_variant missense_variant	MODERATE	HG02965.hp2 HG03139.hp2 HG02965.hp2 HG03139.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0035 a0006c0018t0061 a0006c0018t0035 a0006c0018t0061	a0006c0018t0035g0112 a0006c0018t0061g0090 a0006c0018t0035g0112 a0006c0018t0061g0090	2	324	0.0062	c.107 others(4): Show c.1075G>A	p.Glu others(6): Show p.Glu359Lys	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	4/4	1473/9586	1075/1485	359/494	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10649729	G G	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG02486.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03471.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0010 a0003c0008t0010	a0003c0008t0010g0074 a0003c0008t0010g0075 a0003c0008t0010g0292 others(2): Show a0003c0008t0010g0074 a0003c0008t0010g0075 a0003c0008t0010g0292 a0003c0008t0010g0323 a0003c0008t0010g0324	5	324	0.0154	c.110 others(4): Show c.1101G>T	p.Gln others(6): Show p.Gln367His	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	4/4	1499/9586	1101/1485	367/494	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10649730	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG02486.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03471.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0010 a0003c0008t0010	a0003c0008t0010g0074 a0003c0008t0010g0075 a0003c0008t0010g0292 others(2): Show a0003c0008t0010g0074 a0003c0008t0010g0075 a0003c0008t0010g0292 a0003c0008t0010g0323 a0003c0008t0010g0324	5	324	0.0154	c.110 others(4): Show c.1102C>T	p.Arg others(6): Show p.Arg368Cys	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	4/4	1500/9586	1102/1485	368/494	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10649742	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02895.hp2 HG03453.hp2 others(1): Show HG02258.hp1 HG02895.hp2 HG03453.hp2 HG06807.hp2	a0005 a0007 a0005 a0007	a0005c0017 a0005c0027 a0007c0022 a0005c0017 a0005c0027 a0007c0022	a0005c0017t0021 a0005c0017t0022 a0005c0027t0022 others(1): Show a0005c0017t0021 a0005c0017t0022 a0005c0027t0022 a0007c0022t0021	a0005c0017t0021g0137 a0005c0017t0022g0128 a0005c0027t0022g0005 others(1): Show a0005c0017t0021g0137 a0005c0017t0022g0128 a0005c0027t0022g0005 a0007c0022t0021g0006	4	324	0.0124	c.111 others(4): Show c.1114G>A	p.Gly others(6): Show p.Gly372Arg	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	4/4	1512/9586	1114/1485	372/494	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10649796	G G	T T	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0021 a0007c0022t0021	a0007c0022t0021g0006 a0007c0022t0021g0006	1	324	0.0031	c.116 others(4): Show c.1168G>T	p.Ala others(6): Show p.Ala390Ser	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	4/4	1566/9586	1168/1485	390/494	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10649797	C C	T T	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0021 a0007c0022t0021	a0007c0022t0021g0006 a0007c0022t0021g0006	1	324	0.0031	c.116 others(4): Show c.1169C>T	p.Ala others(6): Show p.Ala390Val	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	4/4	1567/9586	1169/1485	390/494	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10649821	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01255.hp1 HG02109.hp1 others(5): Show HG01069.hp1 HG01255.hp1 HG02109.hp1 HG02280.hp1 HG02559.hp1 HG02818.hp2 HG02976.hp1 HG03540.hp1	a0002 a0002	a0002c0010 a0002c0012 a0002c0028 a0002c0010 a0002c0012 a0002c0028	a0002c0010t0015 a0002c0010t0019 a0002c0010t0036 others(3): Show a0002c0010t0015 a0002c0010t0019 a0002c0010t0036 a0002c0012t0015 a0002c0012t0034 a0002c0028t0037	a0002c0010t0015g0026 a0002c0010t0019g0305 a0002c0010t0019g0307 others(5): Show a0002c0010t0015g0026 a0002c0010t0019g0305 a0002c0010t0019g0307 a0002c0010t0036g0079 a0002c0012t0015g0020 a0002c0012t0015g0286 a0002c0012t0034g0071 a0002c0028t0037g0003	8	324	0.0247	c.119 others(4): Show c.1193C>T	p.Ala others(6): Show p.Ala398Val	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	4/4	1591/9586	1193/1485	398/494	chr5	TogoVar
ANKRD33_chr12_51883103_51896727	51888645	C C	T T	missense_variant missense_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0001 a0014c0020t0001	a0014c0020t0001g0001 a0014c0020t0001g0001	1	450	0.0022	c.223 others(3): Show c.223C>T	p.Arg others(5): Show p.Arg75Trp	ANKRD33	ENSG00000167612.13	transcript	ENST00000301190.11	protein_coding	2/5	307/1865	223/1359	75/452	chr12	TogoVar
ANKRD33_chr12_51883103_51896727	51888676	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0001 a0008c0019t0001g0001	1	450	0.0022	c.254 others(3): Show c.254C>T	p.Pro others(5): Show p.Pro85Leu	ANKRD33	ENSG00000167612.13	transcript	ENST00000301190.11	protein_coding	2/5	338/1865	254/1359	85/452	chr12	TogoVar
ANKRD33_chr12_51883103_51896727	51889089	A A	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(178): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0006 a0009 a0010	a0002c0002 a0002c0007 a0002c0011 others(9): Show a0002c0002 a0002c0007 a0002c0011 a0003c0004 a0003c0005 a0003c0010 a0003c0012 a0004c0003 a0004c0013 a0006c0009 a0009c0022 a0010c0023	a0002c0002t0002 a0002c0007t0002 a0002c0007t0007 others(12): Show a0002c0002t0002 a0002c0007t0002 a0002c0007t0007 a0002c0011t0002 a0003c0004t0003 a0003c0005t0003 a0003c0010t0003 a0003c0012t0005 a0004c0003t0002 a0004c0003t0004 a0004c0013t0002 a0004c0013t0004 a0006c0009t0003 a0009c0022t0002 a0010c0023t0003	a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0007t0002g0002 others(21): Show a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0007t0002g0002 a0002c0007t0007g0002 a0002c0011t0002g0002 a0002c0011t0002g0018 a0003c0004t0003g0002 a0003c0004t0003g0004 a0003c0004t0003g0026 a0003c0005t0003g0006 a0003c0010t0003g0006 a0003c0012t0005g0004 a0004c0003t0002g0002 a0004c0003t0002g0008 a0004c0003t0002g0011 a0004c0003t0002g0016 a0004c0003t0002g0017 a0004c0003t0002g0019 a0004c0003t0004g0002 a0004c0013t0002g0004 a0004c0013t0004g0002 a0006c0009t0003g0006 a0009c0022t0002g0004 a0010c0023t0003g0006	181	450	0.4022	c.419 others(3): Show c.419A>T	p.Tyr others(6): Show p.Tyr140Phe	ANKRD33	ENSG00000167612.13	transcript	ENST00000301190.11	protein_coding	3/5	503/1865	419/1359	140/452	chr12	TogoVar
ANKRD33_chr12_51883103_51896727	51889441	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0001 a0011c0014t0001g0001	1	450	0.0022	c.596 others(3): Show c.596G>A	p.Arg others(6): Show p.Arg199Gln	ANKRD33	ENSG00000167612.13	transcript	ENST00000301190.11	protein_coding	4/5	680/1865	596/1359	199/452	chr12	TogoVar
ANKRD33_chr12_51883103_51896727	51890716	A A	G G	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00621.hp1 HG00639.hp1 others(70): Show HG00597.hp2 HG00621.hp1 HG00639.hp1 HG01106.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01433.hp1 HG01433.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02273.hp2 HG02602.hp1 HG03017.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp2 NA19004.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20905.hp1	a0002 a0005 a0011 a0002 a0005 a0011	a0002c0002 a0002c0007 a0002c0011 others(3): Show a0002c0002 a0002c0007 a0002c0011 a0005c0008 a0005c0017 a0011c0014	a0002c0002t0002 a0002c0007t0002 a0002c0007t0007 others(4): Show a0002c0002t0002 a0002c0007t0002 a0002c0007t0007 a0002c0011t0002 a0005c0008t0001 a0005c0017t0001 a0011c0014t0001	a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0007t0002g0002 others(7): Show a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0007t0002g0002 a0002c0007t0007g0002 a0002c0011t0002g0002 a0002c0011t0002g0018 a0005c0008t0001g0001 a0005c0008t0001g0003 a0005c0017t0001g0003 a0011c0014t0001g0001	73	450	0.1622	c.770 others(3): Show c.770A>G	p.Gln others(6): Show p.Gln257Arg	ANKRD33	ENSG00000167612.13	transcript	ENST00000301190.11	protein_coding	5/5	854/1865	770/1359	257/452	chr12	TogoVar
ANKRD33_chr12_51883103_51896727	51890754	G G	A A	missense_variant missense_variant	MODERATE	HG03486.hp1 HG03486.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0002 a0012c0021t0002	a0012c0021t0002g0020 a0012c0021t0002g0020	1	450	0.0022	c.808 others(3): Show c.808G>A	p.Val others(6): Show p.Val270Met	ANKRD33	ENSG00000167612.13	transcript	ENST00000301190.11	protein_coding	5/5	892/1865	808/1359	270/452	chr12	TogoVar
ANKRD33_chr12_51883103_51896727	51890836	C C	T T	missense_variant missense_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0003 a0013c0016t0001g0003	1	450	0.0022	c.890 others(3): Show c.890C>T	p.Pro others(6): Show p.Pro297Leu	ANKRD33	ENSG00000167612.13	transcript	ENST00000301190.11	protein_coding	5/5	974/1865	890/1359	297/452	chr12	TogoVar
ANKRD33_chr12_51883103_51896727	51890884	C C	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(68): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01978.hp1 HG02071.hp2 HG02074.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18959.hp2 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18983.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19091.hp2 NA19240.hp2 NA20905.hp2	a0003 a0006 a0007 others(1): Show a0003 a0006 a0007 a0010	a0003c0004 a0003c0005 a0003c0010 others(5): Show a0003c0004 a0003c0005 a0003c0010 a0003c0012 a0006c0009 a0007c0015 a0007c0018 a0010c0023	a0003c0004t0003 a0003c0005t0003 a0003c0010t0003 others(5): Show a0003c0004t0003 a0003c0005t0003 a0003c0010t0003 a0003c0012t0005 a0006c0009t0003 a0007c0015t0005 a0007c0018t0005 a0010c0023t0003	a0003c0004t0003g0002 a0003c0004t0003g0004 a0003c0004t0003g0026 others(7): Show a0003c0004t0003g0002 a0003c0004t0003g0004 a0003c0004t0003g0026 a0003c0005t0003g0006 a0003c0010t0003g0006 a0003c0012t0005g0004 a0006c0009t0003g0006 a0007c0015t0005g0022 a0007c0018t0005g0024 a0010c0023t0003g0006	71	450	0.1578	c.938 others(3): Show c.938C>A	p.Thr others(6): Show p.Thr313Asn	ANKRD33	ENSG00000167612.13	transcript	ENST00000301190.11	protein_coding	5/5	1022/1865	938/1359	313/452	chr12	TogoVar
ANKRD33_chr12_51883103_51896727	51891268	G G	A A	missense_variant missense_variant	MODERATE	HG00733.hp2 HG00733.hp2	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0002 a0009c0022t0002	a0009c0022t0002g0004 a0009c0022t0002g0004	1	450	0.0022	c.132 others(4): Show c.1322G>A	p.Arg others(6): Show p.Arg441Lys	ANKRD33	ENSG00000167612.13	transcript	ENST00000301190.11	protein_coding	5/5	1406/1865	1322/1359	441/452	chr12	TogoVar
ANKRD34B_chr5_80551755_80575280	80558848	A A	G G	missense_variant missense_variant	MODERATE	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0014 a0006c0010t0014	a0006c0010t0014g0269 a0006c0010t0014g0269	1	392	0.0026	c.117 others(4): Show c.1172T>C	p.Ile others(6): Show p.Ile391Thr	ANKRD34B	ENSG00000189127.8	transcript	ENST00000338682.8	protein_coding	5/5	1637/3730	1172/1545	391/514	chr5	TogoVar
ANKRD34B_chr5_80551755_80575280	80559116	T T	C C	missense_variant missense_variant	MODERATE	HG01256.hp2 HG01258.hp1 HG01515.hp2 others(1): Show HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01517.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0011 a0003c0004t0001g0075 a0003c0004t0001g0079 a0003c0004t0001g0011 a0003c0004t0001g0075 a0003c0004t0001g0079	4	392	0.0102	c.904 others(3): Show c.904A>G	p.Thr others(6): Show p.Thr302Ala	ANKRD34B	ENSG00000189127.8	transcript	ENST00000338682.8	protein_coding	5/5	1369/3730	904/1545	302/514	chr5	TogoVar
ANKRD34B_chr5_80551755_80575280	80559295	A A	G G	missense_variant missense_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0333 a0007c0009t0001g0333	1	392	0.0026	c.725 others(3): Show c.725T>C	p.Leu others(6): Show p.Leu242Pro	ANKRD34B	ENSG00000189127.8	transcript	ENST00000338682.8	protein_coding	5/5	1190/3730	725/1545	242/514	chr5	TogoVar
ANKRD34B_chr5_80551755_80575280	80559331	A A	G G	missense_variant missense_variant	MODERATE	NA18939.hp2 NA18987.hp1 NA19068.hp2 NA18939.hp2 NA18987.hp1 NA19068.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0098 a0004c0005t0001g0154 a0004c0005t0001g0162 a0004c0005t0001g0098 a0004c0005t0001g0154 a0004c0005t0001g0162	3	392	0.0077	c.689 others(3): Show c.689T>C	p.Val others(6): Show p.Val230Ala	ANKRD34B	ENSG00000189127.8	transcript	ENST00000338682.8	protein_coding	5/5	1154/3730	689/1545	230/514	chr5	TogoVar
ANKRD34B_chr5_80551755_80575280	80559553	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(368): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 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.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.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.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.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 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.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.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 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 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 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 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.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.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.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18972.hp1 NA18972.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 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.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.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0003c0004 a0004c0005 a0005c0006 a0006c0010 a0007c0009 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0003t0001 a0001c0007t0001 a0001c0008t0013 a0003c0004t0001 a0004c0005t0001 a0005c0006t0001 a0006c0010t0014 a0007c0009t0001 a0008c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(330): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0002g0062 a0001c0001t0003g0032 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0004g0031 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0006g0286 a0001c0001t0007g0110 a0001c0001t0007g0116 a0001c0001t0007g0120 a0001c0001t0008g0078 a0001c0001t0008g0136 a0001c0001t0008g0173 a0001c0001t0009g0315 a0001c0001t0009g0316 a0001c0001t0010g0339 a0001c0001t0010g0340 a0001c0001t0011g0037 a0001c0001t0012g0127 a0001c0001t0012g0134 a0001c0001t0013g0342 a0001c0001t0015g0318 a0001c0001t0016g0325 a0001c0001t0017g0168 a0001c0001t0018g0332 a0001c0001t0019g0146 a0001c0001t0020g0128 a0001c0001t0021g0217 a0001c0001t0022g0341 a0001c0003t0001g0296 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0301 a0001c0003t0001g0303 a0001c0007t0001g0196 a0001c0008t0013g0343 a0003c0004t0001g0011 a0003c0004t0001g0075 a0003c0004t0001g0079 a0004c0005t0001g0098 a0004c0005t0001g0154 a0004c0005t0001g0162 a0005c0006t0001g0337 a0006c0010t0014g0269 a0007c0009t0001g0333 a0008c0011t0001g0223	371	392	0.9464	c.467 others(3): Show c.467T>C	p.Leu others(6): Show p.Leu156Ser	ANKRD34B	ENSG00000189127.8	transcript	ENST00000338682.8	protein_coding	5/5	932/3730	467/1545	156/514	chr5	TogoVar
ANKRD34B_chr5_80551755_80575280	80559604	C C	T T	missense_variant missense_variant	MODERATE	HG01981.hp1 HG01981.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0337 a0005c0006t0001g0337	1	392	0.0026	c.416 others(3): Show c.416G>A	p.Ser others(6): Show p.Ser139Asn	ANKRD34B	ENSG00000189127.8	transcript	ENST00000338682.8	protein_coding	5/5	881/3730	416/1545	139/514	chr5	TogoVar
ANKRD34B_chr5_80551755_80575280	80559964	T T	C C	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00544.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0223 a0008c0011t0001g0223	1	392	0.0026	c.56A others(2): Show c.56A>G	p.His others(5): Show p.His19Arg	ANKRD34B	ENSG00000189127.8	transcript	ENST00000338682.8	protein_coding	5/5	521/3730	56/1545	19/514	chr5	TogoVar
ANKRD34C_chr15_79277722_79303239	79293570	A A	G G	missense_variant missense_variant	MODERATE	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0033 a0003c0010t0002g0033	1	430	0.0023	c.286 others(3): Show c.286A>G	p.Arg others(5): Show p.Arg96Gly	ANKRD34C	ENSG00000235711.5	transcript	ENST00000421388.4	protein_coding	2/2	837/5506	286/1608	96/535	chr15	TogoVar
ANKRD34C_chr15_79277722_79303239	79293817	A A	G G	missense_variant missense_variant	MODERATE	HG00597.hp2 HG01934.hp1 NA18963.hp2 others(3): Show HG00597.hp2 HG01934.hp1 NA18963.hp2 NA18965.hp2 NA18977.hp2 NA19003.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0021 a0002c0004t0022 a0002c0004t0038 others(1): Show a0002c0004t0021 a0002c0004t0022 a0002c0004t0038 a0002c0004t0050	a0002c0004t0021g0170 a0002c0004t0021g0171 a0002c0004t0022g0057 others(2): Show a0002c0004t0021g0170 a0002c0004t0021g0171 a0002c0004t0022g0057 a0002c0004t0038g0220 a0002c0004t0050g0107	6	430	0.0140	c.533 others(3): Show c.533A>G	p.Asp others(6): Show p.Asp178Gly	ANKRD34C	ENSG00000235711.5	transcript	ENST00000421388.4	protein_coding	2/2	1084/5506	533/1608	178/535	chr15	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)