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 (≤).

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Select column to sort.

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⚠️ 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
ADAT1_chr16_75591868_75628281	75612670	T T	C C	missense_variant missense_variant	MODERATE	NA19005.hp1 NA19010.hp2 NA19063.hp1 NA19005.hp1 NA19010.hp2 NA19063.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0020 a0008c0011t0020	a0008c0011t0020g0132 a0008c0011t0020g0179 a0008c0011t0020g0180 a0008c0011t0020g0132 a0008c0011t0020g0179 a0008c0011t0020g0180	3	348	0.0086	c.616 others(3): Show c.616A>G	p.Arg others(6): Show p.Arg206Gly	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding	6/10	1516/5757	616/1509	206/502	chr16	TogoVar
ADAT1_chr16_75591868_75628281	75612678	G G	T T	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(109): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG03017.hp1 HG03239.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA20300.hp1 NA20805.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0010 a0008c0011 a0002c0002 a0002c0010 a0008c0011	a0002c0002t0001 a0002c0002t0013 a0002c0002t0018 others(16): Show a0002c0002t0001 a0002c0002t0013 a0002c0002t0018 a0002c0002t0019 a0002c0002t0026 a0002c0002t0027 a0002c0002t0052 a0002c0002t0056 a0002c0002t0057 a0002c0002t0058 a0002c0002t0059 a0002c0002t0060 a0002c0002t0061 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0002t0073 a0002c0010t0001 a0008c0011t0020	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0009 others(91): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0013g0141 a0002c0002t0013g0156 a0002c0002t0013g0158 a0002c0002t0013g0187 a0002c0002t0013g0190 a0002c0002t0018g0149 a0002c0002t0018g0194 a0002c0002t0018g0195 a0002c0002t0019g0159 a0002c0002t0019g0189 a0002c0002t0026g0153 a0002c0002t0026g0161 a0002c0002t0027g0147 a0002c0002t0027g0148 a0002c0002t0052g0127 a0002c0002t0056g0174 a0002c0002t0057g0170 a0002c0002t0058g0152 a0002c0002t0059g0212 a0002c0002t0060g0166 a0002c0002t0061g0213 a0002c0002t0062g0157 a0002c0002t0063g0216 a0002c0002t0064g0315 a0002c0002t0073g0317 a0002c0010t0001g0013 a0002c0010t0001g0204 a0008c0011t0020g0132 a0008c0011t0020g0179 a0008c0011t0020g0180	112	348	0.3218	c.608 others(3): Show c.608C>A	p.Thr others(6): Show p.Thr203Asn	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding	6/10	1508/5757	608/1509	203/502	chr16	TogoVar
ADAT1_chr16_75591868_75628281	75612785	G G	C C	missense_variant missense_variant	MODERATE	NA19086.hp1 NA19086.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0008 a0012c0015t0008	a0012c0015t0008g0109 a0012c0015t0008g0109	1	348	0.0029	c.501 others(3): Show c.501C>G	p.His others(6): Show p.His167Gln	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding	6/10	1401/5757	501/1509	167/502	chr16	TogoVar
ADAT1_chr16_75591868_75628281	75612787	G G	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00423.hp2 HG00438.hp1 others(221): Show HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012	a0002c0002 a0002c0010 a0003c0003 others(9): Show a0002c0002 a0002c0010 a0003c0003 a0003c0004 a0004c0005 a0005c0006 a0007c0007 a0008c0011 a0009c0014 a0010c0013 a0011c0012 a0012c0015	a0002c0002t0001 a0002c0002t0013 a0002c0002t0018 others(58): Show a0002c0002t0001 a0002c0002t0013 a0002c0002t0018 a0002c0002t0019 a0002c0002t0026 a0002c0002t0027 a0002c0002t0052 a0002c0002t0056 a0002c0002t0057 a0002c0002t0058 a0002c0002t0059 a0002c0002t0060 a0002c0002t0061 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0002t0073 a0002c0010t0001 a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 a0003c0003t0009 a0003c0003t0010 a0003c0003t0019 a0003c0003t0022 a0003c0003t0023 a0003c0003t0024 a0003c0003t0035 a0003c0003t0036 a0003c0003t0037 a0003c0003t0038 a0003c0003t0040 a0003c0004t0004 a0003c0004t0015 a0003c0004t0016 a0003c0004t0021 a0003c0004t0033 a0003c0004t0034 a0003c0004t0074 a0004c0005t0008 a0004c0005t0012 a0004c0005t0025 a0004c0005t0039 a0004c0005t0048 a0004c0005t0049 a0004c0005t0050 a0004c0005t0051 a0005c0006t0011 a0005c0006t0017 a0005c0006t0042 a0005c0006t0043 a0005c0006t0044 a0005c0006t0045 a0005c0006t0046 a0005c0006t0047 a0007c0007t0004 a0008c0011t0020 a0009c0014t0001 a0010c0013t0003 a0011c0012t0016 a0012c0015t0008	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0009 others(198): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0013g0141 a0002c0002t0013g0156 a0002c0002t0013g0158 a0002c0002t0013g0187 a0002c0002t0013g0190 a0002c0002t0018g0149 a0002c0002t0018g0194 a0002c0002t0018g0195 a0002c0002t0019g0159 a0002c0002t0019g0189 a0002c0002t0026g0153 a0002c0002t0026g0161 a0002c0002t0027g0147 a0002c0002t0027g0148 a0002c0002t0052g0127 a0002c0002t0056g0174 a0002c0002t0057g0170 a0002c0002t0058g0152 a0002c0002t0059g0212 a0002c0002t0060g0166 a0002c0002t0061g0213 a0002c0002t0062g0157 a0002c0002t0063g0216 a0002c0002t0064g0315 a0002c0002t0073g0317 a0002c0010t0001g0013 a0002c0010t0001g0204 a0003c0003t0001g0008 a0003c0003t0003g0046 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0056 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0064 a0003c0003t0003g0066 a0003c0003t0003g0068 a0003c0003t0003g0069 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0077 a0003c0003t0003g0080 a0003c0003t0003g0081 a0003c0003t0006g0036 a0003c0003t0006g0037 a0003c0003t0006g0039 a0003c0003t0006g0040 a0003c0003t0006g0041 a0003c0003t0006g0044 a0003c0003t0009g0050 a0003c0003t0009g0065 a0003c0003t0009g0070 a0003c0003t0010g0006 a0003c0003t0010g0094 a0003c0003t0010g0095 a0003c0003t0010g0096 a0003c0003t0019g0128 a0003c0003t0022g0038 a0003c0003t0022g0045 a0003c0003t0023g0063 a0003c0003t0023g0078 a0003c0003t0024g0057 a0003c0003t0024g0058 a0003c0003t0035g0042 a0003c0003t0036g0055 a0003c0003t0037g0071 a0003c0003t0038g0067 a0003c0003t0040g0093 a0003c0004t0004g0004 a0003c0004t0004g0020 a0003c0004t0004g0021 a0003c0004t0004g0022 a0003c0004t0004g0023 a0003c0004t0004g0024 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0004g0027 a0003c0004t0004g0030 a0003c0004t0004g0031 a0003c0004t0015g0019 a0003c0004t0015g0029 a0003c0004t0015g0032 a0003c0004t0016g0047 a0003c0004t0021g0318 a0003c0004t0021g0319 a0003c0004t0021g0320 a0003c0004t0033g0028 a0003c0004t0034g0033 a0003c0004t0074g0321 a0004c0005t0008g0007 a0004c0005t0008g0107 a0004c0005t0008g0108 a0004c0005t0008g0111 a0004c0005t0012g0099 a0004c0005t0012g0102 a0004c0005t0012g0103 a0004c0005t0012g0104 a0004c0005t0012g0106 a0004c0005t0025g0097 a0004c0005t0025g0098 a0004c0005t0039g0054 a0004c0005t0048g0110 a0004c0005t0049g0101 a0004c0005t0050g0100 a0004c0005t0051g0105 a0005c0006t0011g0113 a0005c0006t0011g0115 a0005c0006t0011g0117 a0005c0006t0011g0119 a0005c0006t0011g0125 a0005c0006t0017g0116 a0005c0006t0017g0118 a0005c0006t0017g0124 a0005c0006t0042g0120 a0005c0006t0043g0112 a0005c0006t0044g0123 a0005c0006t0045g0114 a0005c0006t0046g0122 a0005c0006t0047g0126 a0007c0007t0004g0003 a0007c0007t0004g0034 a0007c0007t0004g0035 a0008c0011t0020g0132 a0008c0011t0020g0179 a0008c0011t0020g0180 a0009c0014t0001g0214 a0009c0014t0001g0215 a0010c0013t0003g0076 a0010c0013t0003g0079 a0011c0012t0016g0048 a0011c0012t0016g0049 a0012c0015t0008g0109	224	348	0.6437	c.499 others(3): Show c.499C>A	p.His others(6): Show p.His167Asn	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding	6/10	1399/5757	499/1509	167/502	chr16	TogoVar
ADAT2_chr6_143417832_143455695	143428478	T T	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02630.hp2 HG02809.hp1 others(11): Show HG01884.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03516.hp2 HG06807.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0036 a0002c0002t0037 others(6): Show a0002c0002t0020 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0114 a0002c0002t0116 a0002c0002t0118 a0002c0002t0119 a0002c0002t0183	a0002c0002t0020g0073 a0002c0002t0020g0075 a0002c0002t0020g0079 others(11): Show a0002c0002t0020g0073 a0002c0002t0020g0075 a0002c0002t0020g0079 a0002c0002t0036g0074 a0002c0002t0036g0080 a0002c0002t0037g0081 a0002c0002t0037g0084 a0002c0002t0038g0083 a0002c0002t0038g0085 a0002c0002t0114g0076 a0002c0002t0116g0077 a0002c0002t0118g0078 a0002c0002t0119g0247 a0002c0002t0183g0082	14	322	0.0435	c.561 others(3): Show c.561A>T	p.Glu others(6): Show p.Glu187Asp	ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	6/6	598/6244	561/576	187/191	chr6	TogoVar
ADAT2_chr6_143417832_143455695	143438664	G G	T T	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0027 a0003c0004t0027	a0003c0004t0027g0090 a0003c0004t0027g0090	1	322	0.0031	c.127 others(3): Show c.127C>A	p.Pro others(5): Show p.Pro43Thr	ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	2/6	164/6244	127/576	43/191	chr6	TogoVar
ADAT3_chr19_1900399_1918447	1912252	A A	G G	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0032 a0003c0017t0001g0032	1	442	0.0023	c.205 others(3): Show c.205A>G	p.Lys others(5): Show p.Lys69Glu	ADAT3	ENSG00000213638.6	transcript	ENST00000329478.4	protein_coding	2/2	404/1599	205/1104	69/367	chr19	TogoVar
ADAT3_chr19_1900399_1918447	1912430	G G	T T	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0072 a0004c0015t0001g0072	1	442	0.0023	c.383 others(3): Show c.383G>T	p.Arg others(6): Show p.Arg128Leu	ADAT3	ENSG00000213638.6	transcript	ENST00000329478.4	protein_coding	2/2	582/1599	383/1104	128/367	chr19	TogoVar
ADAT3_chr19_1900399_1918447	1912771	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02572.hp2 HG02630.hp1 others(3): Show HG02257.hp1 HG02572.hp2 HG02630.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0016 a0002c0005t0001g0148 a0002c0005t0001g0016 a0002c0005t0001g0148	6	442	0.0136	c.724 others(3): Show c.724A>G	p.Met others(6): Show p.Met242Val	ADAT3	ENSG00000213638.6	transcript	ENST00000329478.4	protein_coding	2/2	923/1599	724/1104	242/367	chr19	TogoVar
ADAT3_chr19_1900399_1918447	1912808	G G	A A	missense_variant missense_variant	MODERATE	HG02602.hp1 HG02602.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0001 a0005c0011t0001g0001	1	442	0.0023	c.761 others(3): Show c.761G>A	p.Arg others(6): Show p.Arg254His	ADAT3	ENSG00000213638.6	transcript	ENST00000329478.4	protein_coding	2/2	960/1599	761/1104	254/367	chr19	TogoVar
ADAT3_chr19_1900399_1918447	1912901	A A	C C	missense_variant missense_variant	MODERATE	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0107 a0006c0014t0001g0107	1	442	0.0023	c.854 others(3): Show c.854A>C	p.Asp others(6): Show p.Asp285Ala	ADAT3	ENSG00000213638.6	transcript	ENST00000329478.4	protein_coding	2/2	1053/1599	854/1104	285/367	chr19	TogoVar
ADAT3_chr19_1900399_1918447	1912969	G G	A A	missense_variant missense_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0057 a0007c0012t0001g0057	1	442	0.0023	c.922 others(3): Show c.922G>A	p.Ala others(6): Show p.Ala308Thr	ADAT3	ENSG00000213638.6	transcript	ENST00000329478.4	protein_coding	2/2	1121/1599	922/1104	308/367	chr19	TogoVar
ADA_chr20_44614522_44656699	44621056	G G	A A	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0159 a0008c0013t0001g0159	1	328	0.0031	c.937 others(3): Show c.937C>T	p.Arg others(6): Show p.Arg313Trp	ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding	10/12	1029/1496	937/1092	313/363	chr20	TogoVar
ADA_chr20_44614522_44656699	44622602	C C	A A	missense_variant missense_variant	MODERATE	HG02083.hp2 HG02083.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0188 a0007c0016t0001g0188	1	328	0.0031	c.831 others(3): Show c.831G>T	p.Glu others(6): Show p.Glu277Asp	ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding	9/12	923/1496	831/1092	277/363	chr20	TogoVar
ADA_chr20_44614522_44656699	44622612	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00438.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0176 a0006c0014t0001g0176	1	328	0.0031	c.821 others(3): Show c.821C>T	p.Pro others(6): Show p.Pro274Leu	ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding	9/12	913/1496	821/1092	274/363	chr20	TogoVar
ADA_chr20_44614522_44656699	44622839	A A	G G	missense_variant missense_variant	MODERATE	HG02976.hp1 HG02976.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0095 a0009c0012t0001g0095	1	328	0.0031	c.770 others(3): Show c.770T>C	p.Met others(6): Show p.Met257Thr	ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding	8/12	862/1496	770/1092	257/363	chr20	TogoVar
ADA_chr20_44614522_44656699	44625613	C C	T T	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0001 a0005c0020t0001	a0005c0020t0001g0265 a0005c0020t0001g0265	1	328	0.0031	c.434 others(3): Show c.434G>A	p.Gly others(6): Show p.Gly145Glu	ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding	5/12	526/1496	434/1092	145/363	chr20	TogoVar
ADA_chr20_44614522_44656699	44625622	C C	T T	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02630.hp2 HG02622.hp1 HG02630.hp2	a0004 a0004	a0004c0011 a0004c0019 a0004c0011 a0004c0019	a0004c0011t0001 a0004c0019t0001 a0004c0011t0001 a0004c0019t0001	a0004c0011t0001g0094 a0004c0019t0001g0120 a0004c0011t0001g0094 a0004c0019t0001g0120	2	328	0.0061	c.425 others(3): Show c.425G>A	p.Arg others(6): Show p.Arg142Gln	ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding	5/12	517/1496	425/1092	142/363	chr20	TogoVar
ADA_chr20_44614522_44656699	44626579	T T	C C	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01515.hp1 HG01517.hp2 others(10): Show HG01175.hp1 HG01515.hp1 HG01517.hp2 HG02004.hp1 HG02071.hp2 HG02258.hp2 HG02300.hp2 HG02602.hp2 HG02809.hp2 HG03098.hp2 HG03540.hp2 NA19030.hp2 NA20752.hp1	a0002 a0011 a0002 a0011	a0002c0003 a0011c0010 a0002c0003 a0011c0010	a0002c0003t0001 a0011c0010t0001 a0002c0003t0001 a0011c0010t0001	a0002c0003t0001g0010 a0002c0003t0001g0062 a0002c0003t0001g0063 others(8): Show a0002c0003t0001g0010 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0163 a0002c0003t0001g0220 a0002c0003t0001g0242 a0002c0003t0001g0250 a0002c0003t0001g0267 a0011c0010t0001g0043	13	328	0.0396	c.239 others(3): Show c.239A>G	p.Lys others(5): Show p.Lys80Arg	ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding	4/12	331/1496	239/1092	80/363	chr20	TogoVar
ADA_chr20_44614522_44656699	44629155	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02145.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0097 a0010c0018t0001g0097	1	328	0.0031	c.110 others(3): Show c.110C>T	p.Ala others(5): Show p.Ala37Val	ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding	3/12	202/1496	110/1092	37/363	chr20	TogoVar
ADA_chr20_44614522_44656699	44651586	C C	T T	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00733.hp1 HG02074.hp1 others(8): Show HG00597.hp1 HG00733.hp1 HG02074.hp1 HG02129.hp2 HG02258.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 NA18978.hp1 NA18989.hp2 NA19087.hp1	a0003 a0011 a0003 a0011	a0003c0005 a0003c0008 a0011c0010 a0003c0005 a0003c0008 a0011c0010	a0003c0005t0001 a0003c0008t0001 a0011c0010t0001 a0003c0005t0001 a0003c0008t0001 a0011c0010t0001	a0003c0005t0001g0035 a0003c0005t0001g0037 a0003c0005t0001g0039 others(7): Show a0003c0005t0001g0035 a0003c0005t0001g0037 a0003c0005t0001g0039 a0003c0005t0001g0040 a0003c0005t0001g0041 a0003c0005t0001g0042 a0003c0008t0001g0012 a0003c0008t0001g0036 a0003c0008t0001g0038 a0011c0010t0001g0043	11	328	0.0335	c.22G others(2): Show c.22G>A	p.Asp others(4): Show p.Asp8Asn	ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding	1/12	114/1496	22/1092	8/363	chr20	TogoVar
ADCK1_chr14_77795109_77940014	77859197	C C	T T	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0002 a0002c0015t0001g0002	1	286	0.0035	c.341 others(3): Show c.341C>T	p.Thr others(6): Show p.Thr114Met	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	4/11	414/3268	341/1572	114/523	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77887134	C C	T T	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0187 a0003c0014t0002g0187	1	286	0.0035	c.467 others(3): Show c.467C>T	p.Thr others(6): Show p.Thr156Met	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	5/11	540/3268	467/1572	156/523	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77887215	G G	A A	missense_variant missense_variant	MODERATE	NA18962.hp1 NA18962.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0146 a0004c0009t0002g0146	1	286	0.0035	c.548 others(3): Show c.548G>A	p.Arg others(6): Show p.Arg183Gln	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	5/11	621/3268	548/1572	183/523	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77925953	G G	A A	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0176 a0006c0013t0001g0176	1	286	0.0035	c.119 others(4): Show c.1198G>A	p.Ala others(6): Show p.Ala400Thr	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	9/11	1271/3268	1198/1572	400/523	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77933348	G G	A A	missense_variant missense_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0237 a0005c0010t0001g0237	1	286	0.0035	c.152 others(4): Show c.1529G>A	p.Arg others(6): Show p.Arg510Gln	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	11/11	1602/3268	1529/1572	510/523	chr14	TogoVar
ADCK2_chr7_140667945_140700110	140673454	C C	T T	missense_variant missense_variant	MODERATE	HG02683.hp1 HG02683.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0004 a0007c0018t0001g0004	1	290	0.0035	c.124 others(3): Show c.124C>T	p.Leu others(5): Show p.Leu42Phe	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	1/8	510/2574	124/1881	42/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140673526	A A	G G	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00639.hp2 HG00642.hp2 others(108): Show HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18947.hp1 NA18963.hp1 NA18967.hp2 NA18986.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0011	a0002c0002 a0002c0017 a0003c0003 others(7): Show a0002c0002 a0002c0017 a0003c0003 a0003c0014 a0004c0004 a0005c0005 a0008c0012 a0009c0016 a0010c0015 a0011c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(16): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0012 a0002c0017t0002 a0003c0003t0002 a0003c0003t0007 a0003c0003t0008 a0003c0003t0010 a0003c0003t0011 a0003c0014t0009 a0004c0004t0002 a0005c0005t0001 a0005c0005t0006 a0008c0012t0001 a0009c0016t0002 a0010c0015t0003 a0011c0013t0003	a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0013 others(72): Show a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0019 a0002c0002t0001g0031 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0002g0032 a0002c0002t0002g0055 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0139 a0002c0002t0002g0142 a0002c0002t0002g0147 a0002c0002t0002g0160 a0002c0002t0003g0012 a0002c0002t0003g0161 a0002c0002t0003g0164 a0002c0002t0005g0013 a0002c0002t0005g0038 a0002c0002t0005g0042 a0002c0002t0012g0013 a0002c0017t0002g0140 a0003c0003t0002g0003 a0003c0003t0002g0005 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0138 a0003c0003t0002g0141 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0146 a0003c0003t0002g0148 a0003c0003t0002g0149 a0003c0003t0002g0150 a0003c0003t0002g0151 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0007g0033 a0003c0003t0008g0003 a0003c0003t0010g0017 a0003c0003t0011g0003 a0003c0014t0009g0018 a0004c0004t0002g0016 a0004c0004t0002g0034 a0004c0004t0002g0166 a0005c0005t0001g0020 a0005c0005t0001g0049 a0005c0005t0001g0165 a0005c0005t0006g0020 a0005c0005t0006g0050 a0008c0012t0001g0047 a0009c0016t0002g0137 a0010c0015t0003g0163 a0011c0013t0003g0162	111	290	0.3828	c.196 others(3): Show c.196A>G	p.Ser others(5): Show p.Ser66Gly	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	1/8	582/2574	196/1881	66/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140673530	G G	A A	missense_variant missense_variant	MODERATE	HG00642.hp2 HG02486.hp1 HG03098.hp1 others(3): Show HG00642.hp2 HG02486.hp1 HG03098.hp1 HG03195.hp1 HG03486.hp2 HG03540.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0016 a0004c0004t0002g0034 a0004c0004t0002g0166 a0004c0004t0002g0016 a0004c0004t0002g0034 a0004c0004t0002g0166	6	290	0.0207	c.200 others(3): Show c.200G>A	p.Arg others(5): Show p.Arg67Gln	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	1/8	586/2574	200/1881	67/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140674249	T T	C C	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00639.hp2 HG00642.hp2 others(108): Show HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18947.hp1 NA18963.hp1 NA18967.hp2 NA18986.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0011	a0002c0002 a0002c0017 a0003c0003 others(7): Show a0002c0002 a0002c0017 a0003c0003 a0003c0014 a0004c0004 a0005c0005 a0008c0012 a0009c0016 a0010c0015 a0011c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(16): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0012 a0002c0017t0002 a0003c0003t0002 a0003c0003t0007 a0003c0003t0008 a0003c0003t0010 a0003c0003t0011 a0003c0014t0009 a0004c0004t0002 a0005c0005t0001 a0005c0005t0006 a0008c0012t0001 a0009c0016t0002 a0010c0015t0003 a0011c0013t0003	a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0013 others(72): Show a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0019 a0002c0002t0001g0031 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0002g0032 a0002c0002t0002g0055 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0139 a0002c0002t0002g0142 a0002c0002t0002g0147 a0002c0002t0002g0160 a0002c0002t0003g0012 a0002c0002t0003g0161 a0002c0002t0003g0164 a0002c0002t0005g0013 a0002c0002t0005g0038 a0002c0002t0005g0042 a0002c0002t0012g0013 a0002c0017t0002g0140 a0003c0003t0002g0003 a0003c0003t0002g0005 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0138 a0003c0003t0002g0141 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0146 a0003c0003t0002g0148 a0003c0003t0002g0149 a0003c0003t0002g0150 a0003c0003t0002g0151 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0007g0033 a0003c0003t0008g0003 a0003c0003t0010g0017 a0003c0003t0011g0003 a0003c0014t0009g0018 a0004c0004t0002g0016 a0004c0004t0002g0034 a0004c0004t0002g0166 a0005c0005t0001g0020 a0005c0005t0001g0049 a0005c0005t0001g0165 a0005c0005t0006g0020 a0005c0005t0006g0050 a0008c0012t0001g0047 a0009c0016t0002g0137 a0010c0015t0003g0163 a0011c0013t0003g0162	111	290	0.3828	c.919 others(3): Show c.919T>C	p.Ser others(6): Show p.Ser307Pro	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	1/8	1305/2574	919/1881	307/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140674611	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0047 a0008c0012t0001g0047	1	290	0.0035	c.934 others(3): Show c.934G>A	p.Val others(6): Show p.Val312Met	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	2/8	1320/2574	934/1881	312/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140681084	G G	T T	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02572.hp2 HG02970.hp1 others(2): Show HG02280.hp1 HG02572.hp2 HG02970.hp1 NA18906.hp1 NA19030.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0006 a0005c0005t0001 a0005c0005t0006	a0005c0005t0001g0020 a0005c0005t0001g0049 a0005c0005t0001g0165 others(2): Show a0005c0005t0001g0020 a0005c0005t0001g0049 a0005c0005t0001g0165 a0005c0005t0006g0020 a0005c0005t0006g0050	5	290	0.0172	c.125 others(4): Show c.1252G>T	p.Val others(6): Show p.Val418Leu	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	4/8	1638/2574	1252/1881	418/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140689616	T T	A A	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0003 a0011c0013t0003	a0011c0013t0003g0162 a0011c0013t0003g0162	1	290	0.0035	c.157 others(4): Show c.1577T>A	p.Leu others(6): Show p.Leu526Gln	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	6/8	1963/2574	1577/1881	526/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140689693	C C	G G	missense_variant missense_variant	MODERATE	HG00673.hp1 HG00673.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0113 a0012c0011t0001g0113	1	290	0.0035	c.165 others(4): Show c.1654C>G	p.Gln others(6): Show p.Gln552Glu	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	6/8	2040/2574	1654/1881	552/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140690772	A A	C C	missense_variant missense_variant	MODERATE	HG01978.hp2 HG01978.hp2	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0001 a0013c0010t0001	a0013c0010t0001g0015 a0013c0010t0001g0015	1	290	0.0035	c.169 others(4): Show c.1699A>C	p.Ser others(6): Show p.Ser567Arg	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	7/8	2085/2574	1699/1881	567/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140690774	C C	G G	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0137 a0009c0016t0002g0137	1	290	0.0035	c.170 others(4): Show c.1701C>G	p.Ser others(6): Show p.Ser567Arg	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	7/8	2087/2574	1701/1881	567/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140694787	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00741.hp1 HG00741.hp2 others(47): Show HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01993.hp1 HG02109.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp2 NA18612.hp1 NA18906.hp2 NA18947.hp1 NA18963.hp1 NA18967.hp2 NA18986.hp1 NA19062.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19084.hp1 NA19086.hp2 NA19240.hp1 NA21309.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0003c0014 a0006c0006 a0003c0003 a0003c0014 a0006c0006	a0003c0003t0002 a0003c0003t0007 a0003c0003t0008 others(4): Show a0003c0003t0002 a0003c0003t0007 a0003c0003t0008 a0003c0003t0010 a0003c0003t0011 a0003c0014t0009 a0006c0006t0001	a0003c0003t0002g0003 a0003c0003t0002g0005 a0003c0003t0002g0017 others(26): Show a0003c0003t0002g0003 a0003c0003t0002g0005 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0138 a0003c0003t0002g0141 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0146 a0003c0003t0002g0148 a0003c0003t0002g0149 a0003c0003t0002g0150 a0003c0003t0002g0151 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0007g0033 a0003c0003t0008g0003 a0003c0003t0010g0017 a0003c0003t0011g0003 a0003c0014t0009g0018 a0006c0006t0001g0029 a0006c0006t0001g0120	50	290	0.1724	c.186 others(4): Show c.1865C>T	p.Pro others(6): Show p.Pro622Leu	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	8/8	2251/2574	1865/1881	622/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140694799	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG02738.hp2 HG00099.hp2 HG02738.hp2	a0010 a0014 a0010 a0014	a0010c0015 a0014c0008 a0010c0015 a0014c0008	a0010c0015t0003 a0014c0008t0001 a0010c0015t0003 a0014c0008t0001	a0010c0015t0003g0163 a0014c0008t0001g0119 a0010c0015t0003g0163 a0014c0008t0001g0119	2	290	0.0069	c.187 others(4): Show c.1877C>T	p.Pro others(6): Show p.Pro626Leu	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	8/8	2263/2574	1877/1881	626/626	chr7	TogoVar
ADCK5_chr8_144369047_144398242	144379425	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02735.hp2 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19080.hp2 NA19084.hp2 NA19087.hp2 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0007	a0002c0002 a0002c0009 a0003c0004 others(3): Show a0002c0002 a0002c0009 a0003c0004 a0004c0005 a0006c0008 a0007c0007	a0002c0002t0001 a0002c0002t0007 a0002c0009t0001 others(5): Show a0002c0002t0001 a0002c0002t0007 a0002c0009t0001 a0003c0004t0001 a0003c0004t0002 a0004c0005t0001 a0006c0008t0001 a0007c0007t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 others(78): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0207 a0002c0002t0007g0002 a0002c0009t0001g0012 a0003c0004t0001g0123 a0003c0004t0001g0142 a0003c0004t0001g0176 a0003c0004t0002g0150 a0003c0004t0002g0163 a0004c0005t0001g0183 a0004c0005t0001g0184 a0004c0005t0001g0185 a0004c0005t0001g0186 a0006c0008t0001g0124 a0007c0007t0001g0165	132	346	0.3815	c.51C others(2): Show c.51C>A	p.Ser others(5): Show p.Ser17Arg	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/15	100/1960	51/1743	17/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144391006	C C	T T	missense_variant missense_variant	MODERATE	HG01993.hp2 HG01993.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0002 a0010c0014t0002	a0010c0014t0002g0001 a0010c0014t0002g0001	1	346	0.0029	c.493 others(3): Show c.493C>T	p.Arg others(6): Show p.Arg165Trp	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	5/15	542/1960	493/1743	165/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144391018	G G	A A	missense_variant missense_variant	MODERATE	NA18984.hp2 NA19003.hp1 NA19089.hp1 NA18984.hp2 NA19003.hp1 NA19089.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0066 a0005c0006t0002g0095 a0005c0006t0002g0099 a0005c0006t0002g0066 a0005c0006t0002g0095 a0005c0006t0002g0099	3	346	0.0087	c.505 others(3): Show c.505G>A	p.Val others(6): Show p.Val169Met	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	5/15	554/1960	505/1743	169/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144391042	C C	T T	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0114 a0009c0013t0002g0114	1	346	0.0029	c.529 others(3): Show c.529C>T	p.Arg others(6): Show p.Arg177Trp	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	5/15	578/1960	529/1743	177/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144391823	A A	G G	missense_variant missense_variant	MODERATE	NA18975.hp2 NA18983.hp2 NA18997.hp2 others(1): Show NA18975.hp2 NA18983.hp2 NA18997.hp2 NA19087.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0183 a0004c0005t0001g0184 a0004c0005t0001g0185 others(1): Show a0004c0005t0001g0183 a0004c0005t0001g0184 a0004c0005t0001g0185 a0004c0005t0001g0186	4	346	0.0116	c.971 others(3): Show c.971A>G	p.Asn others(6): Show p.Asn324Ser	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	9/15	1020/1960	971/1743	324/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144391993	T T	A A	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0165 a0007c0007t0001g0165	1	346	0.0029	c.106 others(4): Show c.1067T>A	p.Phe others(6): Show p.Phe356Tyr	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	10/15	1116/1960	1067/1743	356/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144392145	G G	A A	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0165 a0007c0007t0001g0165	1	346	0.0029	c.115 others(4): Show c.1150G>A	p.Gly others(6): Show p.Gly384Arg	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	11/15	1199/1960	1150/1743	384/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144392257	C C	A A	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0165 a0007c0007t0001g0165	1	346	0.0029	c.117 others(4): Show c.1179C>A	p.Asp others(6): Show p.Asp393Glu	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	12/15	1228/1960	1179/1743	393/580	chr8	TogoVar
ADCY10_chr1_167804386_167919134	167810781	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0002 a0013c0030t0002	a0013c0030t0002g0290 a0013c0030t0002g0290	1	326	0.0031	c.461 others(4): Show c.4615C>T	p.Arg others(7): Show p.Arg1539Trp	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	32/33	4832/5342	4615/4833	1539/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167810834	C C	T T	missense_variant missense_variant	MODERATE	HG01981.hp1 HG02004.hp1 HG02735.hp2 others(2): Show HG01981.hp1 HG02004.hp1 HG02735.hp2 NA18975.hp1 NA19078.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0216 a0005c0013t0001g0217 a0005c0013t0001g0218 others(2): Show a0005c0013t0001g0216 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0225 a0005c0013t0001g0242	5	326	0.0153	c.456 others(4): Show c.4562G>A	p.Cys others(7): Show p.Cys1521Tyr	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	32/33	4779/5342	4562/4833	1521/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167818241	T T	C C	missense_variant missense_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0014 a0014	a0014c0033 a0014c0033	a0014c0033t0001 a0014c0033t0001	a0014c0033t0001g0166 a0014c0033t0001g0166	1	326	0.0031	c.431 others(4): Show c.4313A>G	p.Asn others(7): Show p.Asn1438Ser	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	31/33	4530/5342	4313/4833	1438/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167823118	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00280.hp1	a0021 a0021	a0021c0049 a0021c0049	a0021c0049t0002 a0021c0049t0002	a0021c0049t0002g0064 a0021c0049t0002g0064	1	326	0.0031	c.405 others(4): Show c.4058C>T	p.Pro others(7): Show p.Pro1353Leu	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	29/33	4275/5342	4058/4833	1353/1610	chr1	TogoVar

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