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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⚠️ 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
ARFGAP3_chr22_42791502_42862273	42810876	T T	C C	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02559.hp1 HG02615.hp1 others(2): Show HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02886.hp1 HG03471.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0028 a0005c0008t0002g0029 a0005c0008t0002g0030 others(2): Show a0005c0008t0002g0028 a0005c0008t0002g0029 a0005c0008t0002g0030 a0005c0008t0002g0031 a0005c0008t0002g0324	5	362	0.0138	c.113 others(4): Show c.1133A>G	p.Tyr others(6): Show p.Tyr378Cys	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding	12/16	1224/2728	1133/1551	378/516	chr22	TogoVar
ARFGAP3_chr22_42791502_42862273	42810944	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(262): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 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 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19075.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0007 a0009	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0003c0005 a0005c0008 a0006c0007 a0007c0010 a0009c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(17): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0003t0002 a0001c0003t0008 a0001c0003t0009 a0001c0004t0002 a0001c0004t0005 a0001c0004t0012 a0001c0009t0004 a0001c0011t0001 a0001c0014t0002 a0001c0015t0016 a0001c0016t0015 a0003c0005t0003 a0005c0008t0002 a0006c0007t0001 a0007c0010t0007 a0009c0013t0004	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(256): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0298 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0010g0235 a0001c0001t0010g0236 a0001c0001t0013g0209 a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0038 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0002g0057 a0001c0003t0002g0058 a0001c0003t0002g0059 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0003t0002g0063 a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0070 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0077 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0308 a0001c0003t0002g0339 a0001c0003t0008g0032 a0001c0003t0008g0033 a0001c0003t0008g0034 a0001c0003t0009g0062 a0001c0003t0009g0071 a0001c0003t0009g0099 a0001c0004t0002g0145 a0001c0004t0002g0151 a0001c0004t0002g0152 a0001c0004t0002g0154 a0001c0004t0002g0155 a0001c0004t0002g0164 a0001c0004t0002g0183 a0001c0004t0002g0237 a0001c0004t0005g0010 a0001c0004t0005g0011 a0001c0004t0005g0012 a0001c0004t0005g0013 a0001c0004t0012g0017 a0001c0009t0004g0340 a0001c0009t0004g0342 a0001c0009t0004g0344 a0001c0009t0004g0345 a0001c0009t0004g0346 a0001c0011t0001g0065 a0001c0011t0001g0076 a0001c0014t0002g0081 a0001c0015t0016g0078 a0001c0016t0015g0330 a0003c0005t0003g0325 a0003c0005t0003g0326 a0003c0005t0003g0331 a0003c0005t0003g0334 a0003c0005t0003g0335 a0003c0005t0003g0336 a0003c0005t0003g0337 a0003c0005t0003g0338 a0005c0008t0002g0028 a0005c0008t0002g0029 a0005c0008t0002g0030 a0005c0008t0002g0031 a0005c0008t0002g0324 a0006c0007t0001g0133 a0006c0007t0001g0134 a0006c0007t0001g0135 a0006c0007t0001g0136 a0006c0007t0001g0202 a0007c0010t0007g0014 a0007c0010t0007g0015 a0007c0010t0007g0016 a0009c0013t0004g0341 a0009c0013t0004g0343	265	362	0.7320	c.106 others(4): Show c.1065T>G	p.Ser others(6): Show p.Ser355Arg	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding	12/16	1156/2728	1065/1551	355/516	chr22	TogoVar
ARFGAP3_chr22_42791502_42862273	42817256	G G	A A	missense_variant missense_variant	MODERATE	NA18963.hp2 NA18964.hp2 NA18969.hp2 others(4): Show NA18963.hp2 NA18964.hp2 NA18969.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19084.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0285 a0004c0006t0001g0287 others(2): Show a0004c0006t0001g0001 a0004c0006t0001g0285 a0004c0006t0001g0287 a0004c0006t0001g0300 a0004c0006t0001g0304	7	362	0.0193	c.950 others(3): Show c.950C>T	p.Ser others(6): Show p.Ser317Leu	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding	11/16	1041/2728	950/1551	317/516	chr22	TogoVar
ARFGAP3_chr22_42791502_42862273	42817260	T T	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02145.hp2 HG02486.hp1 others(5): Show HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 NA18522.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0325 a0003c0005t0003g0326 a0003c0005t0003g0331 others(5): Show a0003c0005t0003g0325 a0003c0005t0003g0326 a0003c0005t0003g0331 a0003c0005t0003g0334 a0003c0005t0003g0335 a0003c0005t0003g0336 a0003c0005t0003g0337 a0003c0005t0003g0338	8	362	0.0221	c.946 others(3): Show c.946A>T	p.Ile others(6): Show p.Ile316Phe	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding	11/16	1037/2728	946/1551	316/516	chr22	TogoVar
ARFGAP3_chr22_42791502_42862273	42822391	T T	C C	missense_variant missense_variant	MODERATE	HG01433.hp2 NA20805.hp1 NA21309.hp2 HG01433.hp2 NA20805.hp1 NA21309.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0007 a0007c0010t0007	a0007c0010t0007g0014 a0007c0010t0007g0015 a0007c0010t0007g0016 a0007c0010t0007g0014 a0007c0010t0007g0015 a0007c0010t0007g0016	3	362	0.0083	c.691 others(3): Show c.691A>G	p.Ser others(6): Show p.Ser231Gly	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding	9/16	782/2728	691/1551	231/516	chr22	TogoVar
ARFGAP3_chr22_42791502_42862273	42822405	C C	A A	missense_variant missense_variant	MODERATE	HG02572.hp2 NA19043.hp2 HG02572.hp2 NA19043.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0341 a0009c0013t0004g0343 a0009c0013t0004g0341 a0009c0013t0004g0343	2	362	0.0055	c.677 others(3): Show c.677G>T	p.Gly others(6): Show p.Gly226Val	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding	9/16	768/2728	677/1551	226/516	chr22	TogoVar
ARFGEF1_chr8_67192658_67348781	67203227	G G	A A	missense_variant missense_variant	MODERATE	HG01106.hp1 HG01106.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0149 a0005c0011t0001g0149	1	208	0.0048	c.498 others(4): Show c.4984C>T	p.Arg others(7): Show p.Arg1662Cys	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	36/39	5478/7320	4984/5550	1662/1849	chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67211514	A A	C C	missense_variant missense_variant	MODERATE	NA18998.hp2 NA18998.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0175 a0004c0010t0001g0175	1	208	0.0048	c.478 others(4): Show c.4788T>G	p.Asn others(7): Show p.Asn1596Lys	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	34/39	5282/7320	4788/5550	1596/1849	chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67226133	C C	T T	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18952.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0154 a0006c0009t0001g0154	1	208	0.0048	c.396 others(4): Show c.3967G>A	p.Ala others(7): Show p.Ala1323Thr	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	28/39	4461/7320	3967/5550	1323/1849	chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67288041	T T	C C	missense_variant missense_variant	MODERATE	HG02056.hp1 HG02074.hp2 HG02129.hp2 others(3): Show HG02056.hp1 HG02074.hp2 HG02129.hp2 NA18960.hp2 NA19088.hp1 NA19090.hp1	a0002 a0002	a0002c0004 a0002c0012 a0002c0004 a0002c0012	a0002c0004t0001 a0002c0012t0001 a0002c0004t0001 a0002c0012t0001	a0002c0004t0001g0177 a0002c0004t0001g0179 a0002c0004t0001g0180 others(3): Show a0002c0004t0001g0177 a0002c0004t0001g0179 a0002c0004t0001g0180 a0002c0004t0001g0181 a0002c0004t0001g0183 a0002c0012t0001g0178	6	208	0.0289	c.941 others(3): Show c.941A>G	p.Tyr others(6): Show p.Tyr314Cys	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	7/39	1435/7320	941/5550	314/1849	chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67291876	G G	A A	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0167 a0003c0013t0001g0167	1	208	0.0048	c.887 others(3): Show c.887C>T	p.Thr others(6): Show p.Thr296Ile	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	6/39	1381/7320	887/5550	296/1849	chr8	TogoVar
ARFGEF2_chr20_48916711_49041693	48941880	C C	T T	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01192.hp1 HG01081.hp2 HG01192.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0302 a0003c0007t0001g0303 a0003c0007t0001g0302 a0003c0007t0001g0303	2	352	0.0057	c.169 others(3): Show c.169C>T	p.Pro others(5): Show p.Pro57Ser	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	3/39	348/9031	169/5358	57/1785	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48951384	G G	A A	missense_variant missense_variant	MODERATE	NA18946.hp1 NA18946.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0264 a0004c0008t0002g0264	1	352	0.0028	c.338 others(3): Show c.338G>A	p.Arg others(6): Show p.Arg113Gln	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	4/39	517/9031	338/5358	113/1785	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48953577	G G	A A	missense_variant missense_variant	MODERATE	HG02273.hp1 NA18975.hp1 NA18983.hp2 others(3): Show HG02273.hp1 NA18975.hp1 NA18983.hp2 NA19070.hp1 NA19079.hp2 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0144 a0002c0004t0001g0145 a0002c0004t0001g0146 others(3): Show a0002c0004t0001g0144 a0002c0004t0001g0145 a0002c0004t0001g0146 a0002c0004t0001g0169 a0002c0004t0001g0174 a0002c0004t0001g0191	6	352	0.0171	c.625 others(3): Show c.625G>A	p.Glu others(6): Show p.Glu209Lys	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/39	804/9031	625/5358	209/1785	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48963841	G G	A A	missense_variant missense_variant	MODERATE	HG03654.hp2 HG03654.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0289 a0008c0009t0001g0289	1	352	0.0028	c.850 others(3): Show c.850G>A	p.Gly others(6): Show p.Gly284Arg	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	7/39	1029/9031	850/5358	284/1785	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48989390	C C	T T	missense_variant missense_variant	MODERATE	HG00733.hp1 HG00733.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0018 a0005c0014t0018	a0005c0014t0018g0136 a0005c0014t0018g0136	1	352	0.0028	c.263 others(4): Show c.2639C>T	p.Pro others(6): Show p.Pro880Leu	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	19/39	2818/9031	2639/5358	880/1785	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48989664	G G	A A	missense_variant missense_variant	MODERATE	NA18747.hp1 NA18747.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0262 a0007c0010t0002g0262	1	352	0.0028	c.279 others(4): Show c.2794G>A	p.Ala others(6): Show p.Ala932Thr	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	20/39	2973/9031	2794/5358	932/1785	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48998348	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0301 a0006c0011t0001g0301	1	352	0.0028	c.327 others(4): Show c.3275G>A	p.Arg others(7): Show p.Arg1092His	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	25/39	3454/9031	3275/5358	1092/1785	chr20	TogoVar
ARFGEF3_chr6_138156939_138349663	138170670	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02280.hp2 HG02451.hp2 others(6): Show HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02818.hp2 HG02965.hp1 HG03225.hp1 HG03579.hp2 NA20300.hp2	a0003 a0006 a0016 others(1): Show a0003 a0006 a0016 a0017	a0003c0010 a0003c0017 a0003c0018 others(4): Show a0003c0010 a0003c0017 a0003c0018 a0006c0020 a0006c0021 a0016c0016 a0017c0019	a0003c0010t0001 a0003c0010t0015 a0003c0010t0019 others(6): Show a0003c0010t0001 a0003c0010t0015 a0003c0010t0019 a0003c0017t0054 a0003c0018t0007 a0006c0020t0007 a0006c0021t0010 a0016c0016t0022 a0017c0019t0005	a0003c0010t0001g0098 a0003c0010t0015g0081 a0003c0010t0019g0080 others(6): Show a0003c0010t0001g0098 a0003c0010t0015g0081 a0003c0010t0019g0080 a0003c0017t0054g0083 a0003c0018t0007g0100 a0006c0020t0007g0084 a0006c0021t0010g0185 a0016c0016t0022g0099 a0017c0019t0005g0082	9	190	0.0474	c.94G others(2): Show c.94G>A	p.Gly others(5): Show p.Gly32Ser	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	2/34	242/14859	94/6534	32/2177	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138262720	G G	A A	missense_variant missense_variant	MODERATE	NA19064.hp2 NA19064.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0003 a0015c0022t0003	a0015c0022t0003g0118 a0015c0022t0003g0118	1	190	0.0053	c.123 others(4): Show c.1237G>A	p.Glu others(6): Show p.Glu413Lys	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	12/34	1385/14859	1237/6534	413/2177	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138262722	A A	C C	missense_variant missense_variant	MODERATE	HG02132.hp1 NA19004.hp1 HG02132.hp1 NA19004.hp1	a0004 a0004	a0004c0042 a0004c0043 a0004c0042 a0004c0043	a0004c0042t0001 a0004c0043t0011 a0004c0042t0001 a0004c0043t0011	a0004c0042t0001g0031 a0004c0043t0011g0037 a0004c0042t0001g0031 a0004c0043t0011g0037	2	190	0.0105	c.123 others(4): Show c.1239A>C	p.Glu others(6): Show p.Glu413Asp	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	12/34	1387/14859	1239/6534	413/2177	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138262955	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0007 a0007	a0007c0040 a0007c0040	a0007c0040t0015 a0007c0040t0015	a0007c0040t0015g0093 a0007c0040t0015g0093	1	190	0.0053	c.147 others(4): Show c.1472C>T	p.Thr others(6): Show p.Thr491Met	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	12/34	1620/14859	1472/6534	491/2177	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138263059	G G	A A	missense_variant missense_variant	MODERATE	HG03834.hp2 HG03834.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0009 a0014c0023t0009	a0014c0023t0009g0020 a0014c0023t0009g0020	1	190	0.0053	c.157 others(4): Show c.1576G>A	p.Glu others(6): Show p.Glu526Lys	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	12/34	1724/14859	1576/6534	526/2177	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138263540	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02818.hp2	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0022 a0016c0016t0022	a0016c0016t0022g0099 a0016c0016t0022g0099	1	190	0.0053	c.205 others(4): Show c.2057G>A	p.Arg others(6): Show p.Arg686Gln	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	12/34	2205/14859	2057/6534	686/2177	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138263548	T T	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00558.hp1 HG00597.hp1 others(87): Show HG00140.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG01099.hp2 HG01109.hp1 HG01255.hp1 HG01361.hp2 HG01884.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18952.hp2 NA18957.hp1 NA18964.hp1 NA18968.hp2 NA18974.hp2 NA18977.hp2 NA18986.hp2 NA18988.hp1 NA19002.hp1 NA19004.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0016 a0017	a0002c0002 a0002c0003 a0002c0006 others(23): Show a0002c0002 a0002c0003 a0002c0006 a0002c0007 a0002c0008 a0002c0011 a0002c0012 a0002c0013 a0002c0027 a0002c0028 a0002c0030 a0002c0031 a0002c0041 a0003c0010 a0003c0017 a0003c0018 a0004c0042 a0004c0043 a0005c0025 a0005c0026 a0007c0040 a0008c0029 a0009c0024 a0010c0032 a0016c0016 a0017c0019	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(53): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0016 a0002c0002t0030 a0002c0002t0031 a0002c0002t0036 a0002c0003t0002 a0002c0003t0007 a0002c0003t0009 a0002c0003t0023 a0002c0003t0048 a0002c0003t0053 a0002c0006t0005 a0002c0006t0021 a0002c0006t0055 a0002c0006t0056 a0002c0007t0001 a0002c0007t0013 a0002c0007t0018 a0002c0007t0025 a0002c0007t0040 a0002c0007t0058 a0002c0008t0001 a0002c0008t0008 a0002c0008t0019 a0002c0008t0033 a0002c0008t0047 a0002c0011t0005 a0002c0011t0046 a0002c0011t0052 a0002c0012t0001 a0002c0013t0026 a0002c0013t0044 a0002c0027t0038 a0002c0028t0057 a0002c0030t0009 a0002c0031t0001 a0002c0041t0002 a0003c0010t0001 a0003c0010t0015 a0003c0010t0019 a0003c0017t0054 a0003c0018t0007 a0004c0042t0001 a0004c0043t0011 a0005c0025t0012 a0005c0026t0012 a0007c0040t0015 a0008c0029t0001 a0009c0024t0027 a0010c0032t0016 a0016c0016t0022 a0017c0019t0005	a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0028 others(86): Show a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0028 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0047 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0003g0035 a0002c0002t0003g0050 a0002c0002t0003g0059 a0002c0002t0003g0113 a0002c0002t0004g0048 a0002c0002t0004g0049 a0002c0002t0004g0051 a0002c0002t0004g0063 a0002c0002t0006g0014 a0002c0002t0006g0015 a0002c0002t0010g0111 a0002c0002t0016g0016 a0002c0002t0030g0012 a0002c0002t0031g0036 a0002c0002t0036g0033 a0002c0003t0002g0030 a0002c0003t0002g0034 a0002c0003t0002g0042 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0052 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0002g0060 a0002c0003t0007g0078 a0002c0003t0007g0079 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0023g0150 a0002c0003t0048g0158 a0002c0003t0053g0041 a0002c0006t0005g0068 a0002c0006t0005g0069 a0002c0006t0005g0110 a0002c0006t0005g0160 a0002c0006t0021g0008 a0002c0006t0055g0065 a0002c0006t0056g0006 a0002c0007t0001g0167 a0002c0007t0013g0187 a0002c0007t0018g0114 a0002c0007t0025g0088 a0002c0007t0025g0090 a0002c0007t0040g0073 a0002c0007t0058g0089 a0002c0008t0001g0174 a0002c0008t0008g0155 a0002c0008t0019g0156 a0002c0008t0033g0077 a0002c0008t0047g0076 a0002c0011t0005g0013 a0002c0011t0046g0066 a0002c0011t0052g0112 a0002c0012t0001g0001 a0002c0012t0001g0095 a0002c0013t0026g0032 a0002c0013t0044g0044 a0002c0027t0038g0010 a0002c0028t0057g0091 a0002c0030t0009g0024 a0002c0031t0001g0027 a0002c0041t0002g0075 a0003c0010t0001g0098 a0003c0010t0015g0081 a0003c0010t0019g0080 a0003c0017t0054g0083 a0003c0018t0007g0100 a0004c0042t0001g0031 a0004c0043t0011g0037 a0005c0025t0012g0074 a0005c0026t0012g0017 a0007c0040t0015g0093 a0008c0029t0001g0043 a0009c0024t0027g0058 a0010c0032t0016g0086 a0016c0016t0022g0099 a0017c0019t0005g0082	90	190	0.4737	c.206 others(4): Show c.2065T>G	p.Ser others(6): Show p.Ser689Ala	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	12/34	2213/14859	2065/6534	689/2177	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138263594	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG03225.hp1 HG01884.hp1 HG03225.hp1	a0010 a0017 a0010 a0017	a0010c0032 a0017c0019 a0010c0032 a0017c0019	a0010c0032t0016 a0017c0019t0005 a0010c0032t0016 a0017c0019t0005	a0010c0032t0016g0086 a0017c0019t0005g0082 a0010c0032t0016g0086 a0017c0019t0005g0082	2	190	0.0105	c.211 others(4): Show c.2111C>T	p.Ala others(6): Show p.Ala704Val	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	12/34	2259/14859	2111/6534	704/2177	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138280128	G G	A A	missense_variant missense_variant	MODERATE	HG02148.hp2 HG02148.hp2	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0027 a0009c0024t0027	a0009c0024t0027g0058 a0009c0024t0027g0058	1	190	0.0053	c.242 others(4): Show c.2425G>A	p.Glu others(6): Show p.Glu809Lys	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	14/34	2573/14859	2425/6534	809/2177	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138292041	C C	T T	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0011 a0011	a0011c0039 a0011c0039	a0011c0039t0042 a0011c0039t0042	a0011c0039t0042g0165 a0011c0039t0042g0165	1	190	0.0053	c.335 others(4): Show c.3356C>T	p.Thr others(7): Show p.Thr1119Met	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	19/34	3504/14859	3356/6534	1119/2177	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138317305	A A	G G	missense_variant missense_variant	MODERATE	NA18964.hp1 NA18964.hp1	a0008 a0008	a0008c0029 a0008c0029	a0008c0029t0001 a0008c0029t0001	a0008c0029t0001g0043 a0008c0029t0001g0043	1	190	0.0053	c.440 others(4): Show c.4400A>G	p.Asn others(7): Show p.Asn1467Ser	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	27/34	4548/14859	4400/6534	1467/2177	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138321170	G G	A A	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18948.hp2	a0013 a0013	a0013c0035 a0013c0035	a0013c0035t0001 a0013c0035t0001	a0013c0035t0001g0147 a0013c0035t0001g0147	1	190	0.0053	c.471 others(4): Show c.4711G>A	p.Ala others(7): Show p.Ala1571Thr	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	29/34	4859/14859	4711/6534	1571/2177	chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138334938	A A	G G	missense_variant missense_variant	MODERATE	HG01106.hp1 HG02809.hp2 HG03209.hp1 HG01106.hp1 HG02809.hp2 HG03209.hp1	a0005 a0012 a0005 a0012	a0005c0025 a0005c0026 a0012c0036 a0005c0025 a0005c0026 a0012c0036	a0005c0025t0012 a0005c0026t0012 a0012c0036t0012 a0005c0025t0012 a0005c0026t0012 a0012c0036t0012	a0005c0025t0012g0074 a0005c0026t0012g0017 a0012c0036t0012g0178 a0005c0025t0012g0074 a0005c0026t0012g0017 a0012c0036t0012g0178	3	190	0.0158	c.609 others(4): Show c.6092A>G	p.Lys others(7): Show p.Lys2031Arg	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	33/34	6240/14859	6092/6534	2031/2177	chr6	TogoVar
ARFIP1_chr4_152774954_152917357	152863709	T T	C C	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0069 a0003c0004t0002g0069	1	342	0.0029	c.197 others(3): Show c.197T>C	p.Phe others(5): Show p.Phe66Ser	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	3/9	479/3542	197/1122	66/373	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152881072	A A	G G	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02896.hp2 HG03471.hp1 others(1): Show HG02717.hp2 HG02896.hp2 HG03471.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0042 others(1): Show a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0043	4	342	0.0117	c.521 others(3): Show c.521A>G	p.Asn others(6): Show p.Asn174Ser	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	6/9	803/3542	521/1122	174/373	chr4	TogoVar
ARFIP2_chr11_6471519_6486331	6477791	T T	C C	missense_variant missense_variant	MODERATE	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0028 a0002c0004t0001g0028	1	402	0.0025	c.797 others(3): Show c.797A>G	p.Gln others(6): Show p.Gln266Arg	ARFIP2	ENSG00000132254.13	transcript	ENST00000396777.8	protein_coding	7/8	940/1763	797/1026	266/341	chr11	TogoVar
ARG1_chr6_131568226_131589329	131581305	C C	T T	missense_variant missense_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0001 a0003c0007t0001g0001	1	420	0.0024	c.392 others(3): Show c.392C>T	p.Thr others(6): Show p.Thr131Ile	ARG1	ENSG00000118520.16	transcript	ENST00000368087.8	protein_coding	4/8	449/1447	392/969	131/322	chr6	TogoVar
ARG1_chr6_131568226_131589329	131583139	G G	A A	missense_variant missense_variant	MODERATE	NA18980.hp2 NA19066.hp1 NA18980.hp2 NA19066.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0001 a0002c0005t0001g0001	2	420	0.0048	c.640 others(3): Show c.640G>A	p.Glu others(6): Show p.Glu214Lys	ARG1	ENSG00000118520.16	transcript	ENST00000368087.8	protein_coding	6/8	697/1447	640/969	214/322	chr6	TogoVar
ARG1_chr6_131568226_131589329	131583892	T T	C C	missense_variant missense_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0066 a0004c0006t0001g0066	1	420	0.0024	c.953 others(3): Show c.953T>C	p.Leu others(6): Show p.Leu318Pro	ARG1	ENSG00000118520.16	transcript	ENST00000368087.8	protein_coding	8/8	1010/1447	953/969	318/322	chr6	TogoVar
ARG2_chr14_67614920_67656708	67647021	G G	C C	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02572.hp2 HG02717.hp2 others(3): Show HG02109.hp1 HG02572.hp2 HG02717.hp2 HG02965.hp2 HG03130.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0167 others(1): Show a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0167 a0002c0002t0002g0168	6	438	0.0137	c.718 others(3): Show c.718G>C	p.Gly others(6): Show p.Gly240Arg	ARG2	ENSG00000081181.8	transcript	ENST00000261783.4	protein_coding	6/8	776/1911	718/1065	240/354	chr14	TogoVar
ARG2_chr14_67614920_67656708	67650909	G G	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0108 a0003c0004t0001g0108	1	438	0.0023	c.105 others(4): Show c.1054G>T	p.Val others(6): Show p.Val352Leu	ARG2	ENSG00000081181.8	transcript	ENST00000261783.4	protein_coding	8/8	1112/1911	1054/1065	352/354	chr14	TogoVar
ARGFX_chr3_121562949_121595622	121570747	C C	T T	missense_variant missense_variant	MODERATE	HG01975.hp2 NA18612.hp1 NA18948.hp1 others(4): Show HG01975.hp2 NA18612.hp1 NA18948.hp1 NA18963.hp1 NA18968.hp1 NA18981.hp1 NA19009.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0005 a0004c0004t0002 a0004c0004t0005	a0004c0004t0002g0003 a0004c0004t0002g0052 a0004c0004t0002g0054 others(4): Show a0004c0004t0002g0003 a0004c0004t0002g0052 a0004c0004t0002g0054 a0004c0004t0002g0055 a0004c0004t0002g0057 a0004c0004t0002g0058 a0004c0004t0005g0059	7	410	0.0171	c.34C others(2): Show c.34C>T	p.Pro others(5): Show p.Pro12Ser	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	2/5	111/5047	34/948	12/315	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121570787	T T	G G	missense_variant missense_variant	MODERATE	HG03654.hp2 HG03654.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0126 a0007c0007t0002g0126	1	410	0.0024	c.74T others(2): Show c.74T>G	p.Val others(5): Show p.Val25Gly	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	2/5	151/5047	74/948	25/315	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121576897	A A	T T	missense_variant missense_variant	MODERATE	NA18969.hp2 NA18969.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0116 a0008c0011t0002g0116	1	410	0.0024	c.217 others(3): Show c.217A>T	p.Thr others(5): Show p.Thr73Ser	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	3/5	294/5047	217/948	73/315	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121586086	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(64): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02074.hp1 HG02109.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG03195.hp1 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03834.hp2 HG04204.hp1 NA18947.hp1 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18979.hp2 NA18982.hp2 NA18997.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp2 NA19065.hp2 NA19085.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0008 a0002c0002 a0009c0008	a0002c0002t0001 a0002c0002t0006 a0002c0002t0009 others(9): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0009 a0002c0002t0010 a0002c0002t0013 a0002c0002t0019 a0002c0002t0031 a0002c0002t0044 a0002c0002t0046 a0002c0002t0047 a0002c0002t0052 a0009c0008t0001	a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0009 others(61): Show a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0028 a0002c0002t0001g0032 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0365 a0002c0002t0006g0002 a0002c0002t0006g0009 a0002c0002t0006g0211 a0002c0002t0009g0168 a0002c0002t0009g0179 a0002c0002t0009g0181 a0002c0002t0009g0182 a0002c0002t0009g0196 a0002c0002t0009g0215 a0002c0002t0010g0008 a0002c0002t0010g0180 a0002c0002t0010g0183 a0002c0002t0010g0184 a0002c0002t0010g0214 a0002c0002t0013g0209 a0002c0002t0019g0391 a0002c0002t0031g0173 a0002c0002t0044g0212 a0002c0002t0046g0201 a0002c0002t0047g0191 a0002c0002t0052g0008 a0009c0008t0001g0197	67	410	0.1634	c.434 others(3): Show c.434G>A	p.Arg others(6): Show p.Arg145Gln	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	5/5	511/5047	434/948	145/315	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121586208	C C	T T	missense_variant missense_variant	MODERATE	NA20805.hp2 NA20805.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0197 a0009c0008t0001g0197	1	410	0.0024	c.556 others(3): Show c.556C>T	p.Pro others(6): Show p.Pro186Ser	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	5/5	633/5047	556/948	186/315	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121586239	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01891.hp1 HG02258.hp2 others(12): Show HG01884.hp1 HG01891.hp1 HG02258.hp2 HG02280.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp1 HG03041.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19030.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0023 a0003c0003t0026 others(2): Show a0003c0003t0008 a0003c0003t0023 a0003c0003t0026 a0003c0003t0041 a0003c0003t0042	a0003c0003t0008g0013 a0003c0003t0008g0345 a0003c0003t0008g0347 others(12): Show a0003c0003t0008g0013 a0003c0003t0008g0345 a0003c0003t0008g0347 a0003c0003t0008g0348 a0003c0003t0008g0350 a0003c0003t0008g0351 a0003c0003t0008g0352 a0003c0003t0008g0353 a0003c0003t0008g0354 a0003c0003t0023g0346 a0003c0003t0023g0387 a0003c0003t0026g0389 a0003c0003t0026g0390 a0003c0003t0041g0013 a0003c0003t0042g0349	15	410	0.0366	c.587 others(3): Show c.587C>T	p.Thr others(6): Show p.Thr196Ile	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	5/5	664/5047	587/948	196/315	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121586379	T T	C C	missense_variant missense_variant	MODERATE	NA19090.hp2 NA19090.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0053 a0010c0009t0053	a0010c0009t0053g0299 a0010c0009t0053g0299	1	410	0.0024	c.727 others(3): Show c.727T>C	p.Ser others(6): Show p.Ser243Pro	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	5/5	804/5047	727/948	243/315	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121586380	C C	T T	missense_variant missense_variant	MODERATE	NA19090.hp2 NA19090.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0053 a0010c0009t0053	a0010c0009t0053g0299 a0010c0009t0053g0299	1	410	0.0024	c.728 others(3): Show c.728C>T	p.Ser others(6): Show p.Ser243Phe	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	5/5	805/5047	728/948	243/315	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121586508	A A	T T	missense_variant missense_variant	MODERATE	NA19090.hp2 NA19090.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0053 a0010c0009t0053	a0010c0009t0053g0299 a0010c0009t0053g0299	1	410	0.0024	c.856 others(3): Show c.856A>T	p.Asn others(6): Show p.Asn286Tyr	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	5/5	933/5047	856/948	286/315	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121586577	A A	T T	missense_variant missense_variant	MODERATE	NA18994.hp1 NA19067.hp1 NA18994.hp1 NA19067.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0297 a0006c0006t0006g0298 a0006c0006t0006g0297 a0006c0006t0006g0298	2	410	0.0049	c.925 others(3): Show c.925A>T	p.Met others(6): Show p.Met309Leu	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	5/5	1002/5047	925/948	309/315	chr3	TogoVar
ARGFX_chr3_121562949_121595622	121586579	G G	C C	missense_variant missense_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0034 a0011c0010t0002g0034	1	410	0.0024	c.927 others(3): Show c.927G>C	p.Met others(6): Show p.Met309Ile	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	5/5	1004/5047	927/948	309/315	chr3	TogoVar

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