Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
AHCTF1_chr1_246834098_246936948	246842733	G G	A A	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0020 a0020	a0020c0032 a0020c0032	a0020c0032t0001 a0020c0032t0001	a0020c0032t0001g0258 a0020c0032t0001g0258	1	374	0.0027	c.656 others(4): Show c.6569C>T	p.Ala others(7): Show p.Ala2190Val	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	35/36	6947/8887	6569/6801	2190/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246842749	G G	C C	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00438.hp1 HG00642.hp2 others(85): Show HG00323.hp1 HG00438.hp1 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA18987.hp1 NA18990.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19070.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1	a0003 a0005 a0009 others(4): Show a0003 a0005 a0009 a0020 a0021 a0023 a0025	a0003c0003 a0003c0020 a0003c0028 others(7): Show a0003c0003 a0003c0020 a0003c0028 a0005c0006 a0005c0027 a0009c0014 a0020c0032 a0021c0033 a0023c0041 a0025c0022	a0003c0003t0001 a0003c0003t0010 a0003c0020t0022 others(8): Show a0003c0003t0001 a0003c0003t0010 a0003c0020t0022 a0003c0028t0001 a0005c0006t0001 a0005c0027t0001 a0009c0014t0001 a0020c0032t0001 a0021c0033t0001 a0023c0041t0001 a0025c0022t0001	a0003c0003t0001g0001 a0003c0003t0001g0015 a0003c0003t0001g0108 others(84): Show a0003c0003t0001g0001 a0003c0003t0001g0015 a0003c0003t0001g0108 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0132 a0003c0003t0001g0136 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0168 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0191 a0003c0003t0001g0194 a0003c0003t0001g0196 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0240 a0003c0003t0001g0244 a0003c0003t0001g0255 a0003c0003t0001g0257 a0003c0003t0001g0259 a0003c0003t0001g0278 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0288 a0003c0003t0001g0301 a0003c0003t0001g0321 a0003c0003t0001g0341 a0003c0003t0010g0198 a0003c0003t0010g0199 a0003c0020t0022g0373 a0003c0028t0001g0239 a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 a0005c0006t0001g0177 a0005c0006t0001g0212 a0005c0006t0001g0256 a0005c0006t0001g0289 a0005c0027t0001g0195 a0009c0014t0001g0102 a0009c0014t0001g0141 a0020c0032t0001g0258 a0021c0033t0001g0279 a0023c0041t0001g0157 a0025c0022t0001g0056	88	374	0.2353	c.655 others(4): Show c.6553C>G	p.Leu others(7): Show p.Leu2185Val	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	35/36	6931/8887	6553/6801	2185/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246843811	T T	C C	missense_variant missense_variant	MODERATE	HG00741.hp1 HG00741.hp1	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0001 a0015c0024t0001	a0015c0024t0001g0070 a0015c0024t0001g0070	1	374	0.0027	c.650 others(4): Show c.6509A>G	p.Lys others(7): Show p.Lys2170Arg	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	34/36	6887/8887	6509/6801	2170/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246849641	G G	A A	missense_variant missense_variant	MODERATE	HG02698.hp2 HG04115.hp2 HG02698.hp2 HG04115.hp2	a0010 a0010	a0010c0034 a0010c0035 a0010c0034 a0010c0035	a0010c0034t0002 a0010c0035t0002 a0010c0034t0002 a0010c0035t0002	a0010c0034t0002g0164 a0010c0035t0002g0165 a0010c0034t0002g0164 a0010c0035t0002g0165	2	374	0.0053	c.636 others(4): Show c.6365C>T	p.Ala others(7): Show p.Ala2122Val	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	33/36	6743/8887	6365/6801	2122/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246849746	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01243.hp1	a0016 a0016	a0016c0036 a0016c0036	a0016c0036t0002 a0016c0036t0002	a0016c0036t0002g0166 a0016c0036t0002g0166	1	374	0.0027	c.626 others(4): Show c.6260C>T	p.Thr others(7): Show p.Thr2087Ile	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	33/36	6638/8887	6260/6801	2087/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246850085	C C	T T	missense_variant missense_variant	MODERATE	NA18947.hp1 NA18947.hp1	a0025 a0025	a0025c0022 a0025c0022	a0025c0022t0001 a0025c0022t0001	a0025c0022t0001g0056 a0025c0022t0001g0056	1	374	0.0027	c.592 others(4): Show c.5921G>A	p.Arg others(7): Show p.Arg1974His	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	33/36	6299/8887	5921/6801	1974/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246850122	G G	C C	missense_variant missense_variant	MODERATE	NA18944.hp2 NA18944.hp2	a0024 a0024	a0024c0025 a0024c0025	a0024c0025t0001 a0024c0025t0001	a0024c0025t0001g0012 a0024c0025t0001g0012	1	374	0.0027	c.588 others(4): Show c.5884C>G	p.Gln others(7): Show p.Gln1962Glu	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	33/36	6262/8887	5884/6801	1962/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246850431	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02486.hp2 HG02559.hp1 others(13): Show HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp1	a0004 a0006 a0026 a0004 a0006 a0026	a0004c0005 a0004c0021 a0004c0042 others(3): Show a0004c0005 a0004c0021 a0004c0042 a0006c0011 a0006c0039 a0026c0030	a0004c0005t0005 a0004c0005t0006 a0004c0021t0006 others(4): Show a0004c0005t0005 a0004c0005t0006 a0004c0021t0006 a0004c0042t0006 a0006c0011t0007 a0006c0039t0007 a0026c0030t0005	a0004c0005t0005g0004 a0004c0005t0005g0005 a0004c0005t0005g0006 others(13): Show a0004c0005t0005g0004 a0004c0005t0005g0005 a0004c0005t0005g0006 a0004c0005t0005g0007 a0004c0005t0005g0008 a0004c0005t0006g0044 a0004c0005t0006g0188 a0004c0005t0006g0197 a0004c0005t0006g0360 a0004c0021t0006g0276 a0004c0042t0006g0189 a0006c0011t0007g0020 a0006c0011t0007g0025 a0006c0011t0007g0156 a0006c0039t0007g0024 a0026c0030t0005g0009	16	374	0.0428	c.557 others(4): Show c.5575A>G	p.Lys others(7): Show p.Lys1859Glu	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	33/36	5953/8887	5575/6801	1859/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246850842	T T	C C	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03209.hp2	a0021 a0021	a0021c0033 a0021c0033	a0021c0033t0001 a0021c0033t0001	a0021c0033t0001g0279 a0021c0033t0001g0279	1	374	0.0027	c.516 others(4): Show c.5164A>G	p.Ser others(7): Show p.Ser1722Gly	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	33/36	5542/8887	5164/6801	1722/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246855759	G G	A A	missense_variant missense_variant	MODERATE	HG01261.hp2 HG02280.hp2 HG02647.hp2 others(5): Show HG01261.hp2 HG02280.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG03579.hp1 NA18522.hp2 NA19043.hp2	a0005 a0005	a0005c0006 a0005c0027 a0005c0006 a0005c0027	a0005c0006t0001 a0005c0027t0001 a0005c0006t0001 a0005c0027t0001	a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 others(5): Show a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 a0005c0006t0001g0177 a0005c0006t0001g0212 a0005c0006t0001g0256 a0005c0006t0001g0289 a0005c0027t0001g0195	8	374	0.0214	c.432 others(4): Show c.4325C>T	p.Thr others(7): Show p.Thr1442Ile	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	31/36	4703/8887	4325/6801	1442/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246861022	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00609.hp2	a0014 a0014	a0014c0031 a0014c0031	a0014c0031t0001 a0014c0031t0001	a0014c0031t0001g0137 a0014c0031t0001g0137	1	374	0.0027	c.400 others(4): Show c.4009G>A	p.Ala others(7): Show p.Ala1337Thr	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	29/36	4387/8887	4009/6801	1337/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246861024	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00642.hp1 HG01978.hp2 HG00099.hp1 HG00642.hp1 HG01978.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0075 a0007c0009t0001g0084 a0007c0009t0001g0105 a0007c0009t0001g0075 a0007c0009t0001g0084 a0007c0009t0001g0105	3	374	0.0080	c.400 others(4): Show c.4007C>T	p.Thr others(7): Show p.Thr1336Met	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	29/36	4385/8887	4007/6801	1336/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246861097	T T	C C	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02723.hp2 HG03041.hp2 others(2): Show HG02559.hp1 HG02723.hp2 HG03041.hp2 HG03195.hp2 HG03540.hp2	a0006 a0022 a0006 a0022	a0006c0011 a0006c0039 a0022c0038 a0006c0011 a0006c0039 a0022c0038	a0006c0011t0007 a0006c0039t0007 a0022c0038t0001 a0006c0011t0007 a0006c0039t0007 a0022c0038t0001	a0006c0011t0007g0020 a0006c0011t0007g0025 a0006c0011t0007g0156 others(2): Show a0006c0011t0007g0020 a0006c0011t0007g0025 a0006c0011t0007g0156 a0006c0039t0007g0024 a0022c0038t0001g0026	5	374	0.0134	c.393 others(4): Show c.3934A>G	p.Ile others(7): Show p.Ile1312Val	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	29/36	4312/8887	3934/6801	1312/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246861226	A A	G G	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0026 a0026	a0026c0030 a0026c0030	a0026c0030t0005 a0026c0030t0005	a0026c0030t0005g0009 a0026c0030t0005g0009	1	374	0.0027	c.380 others(4): Show c.3805T>C	p.Trp others(7): Show p.Trp1269Arg	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	29/36	4183/8887	3805/6801	1269/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246861247	C C	T T	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00438.hp2	a0013 a0013	a0013c0029 a0013c0029	a0013c0029t0001 a0013c0029t0001	a0013c0029t0001g0351 a0013c0029t0001g0351	1	374	0.0027	c.378 others(4): Show c.3784G>A	p.Ala others(7): Show p.Ala1262Thr	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	29/36	4162/8887	3784/6801	1262/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246867245	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0027 a0027	a0027c0040 a0027c0040	a0027c0040t0002 a0027c0040t0002	a0027c0040t0002g0358 a0027c0040t0002g0358	1	374	0.0027	c.334 others(4): Show c.3346A>G	p.Arg others(7): Show p.Arg1116Gly	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	26/36	3724/8887	3346/6801	1116/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246877229	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01069.hp2 HG00639.hp1 HG01069.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0159 a0008c0015t0001g0160 a0008c0015t0001g0159 a0008c0015t0001g0160	2	374	0.0053	c.273 others(4): Show c.2734A>G	p.Met others(6): Show p.Met912Val	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	22/36	3112/8887	2734/6801	912/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246877270	T T	C C	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0001 a0023c0041t0001	a0023c0041t0001g0157 a0023c0041t0001g0157	1	374	0.0027	c.269 others(4): Show c.2693A>G	p.Gln others(6): Show p.Gln898Arg	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	22/36	3071/8887	2693/6801	898/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246885532	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(278): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0003 a0004 others(17): Show a0001 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0026 a0027	a0001c0001 a0001c0004 a0001c0007 others(33): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0001c0012 a0001c0018 a0001c0019 a0001c0026 a0001c0037 a0001c0044 a0003c0003 a0003c0020 a0003c0028 a0004c0005 a0004c0021 a0004c0042 a0005c0006 a0005c0027 a0006c0011 a0006c0039 a0008c0015 a0010c0034 a0010c0035 a0011c0016 a0012c0045 a0013c0029 a0014c0031 a0016c0036 a0017c0043 a0018c0017 a0020c0032 a0021c0033 a0022c0038 a0023c0041 a0026c0030 a0027c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0023 a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 a0001c0004t0012 a0001c0004t0015 a0001c0004t0020 a0001c0007t0001 a0001c0010t0001 a0001c0012t0002 a0001c0018t0001 a0001c0019t0001 a0001c0026t0001 a0001c0037t0001 a0001c0044t0002 a0003c0003t0001 a0003c0003t0010 a0003c0020t0022 a0003c0028t0001 a0004c0005t0005 a0004c0005t0006 a0004c0021t0006 a0004c0042t0006 a0005c0006t0001 a0005c0027t0001 a0006c0011t0007 a0006c0039t0007 a0008c0015t0001 a0010c0034t0002 a0010c0035t0002 a0011c0016t0001 a0012c0045t0001 a0013c0029t0001 a0014c0031t0001 a0016c0036t0002 a0017c0043t0001 a0018c0017t0013 a0020c0032t0001 a0021c0033t0001 a0022c0038t0001 a0023c0041t0001 a0026c0030t0005 a0027c0040t0002	a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 others(277): Show a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0209 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0361 a0001c0001t0002g0034 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0320 a0001c0001t0003g0350 a0001c0001t0004g0363 a0001c0001t0004g0364 a0001c0001t0004g0365 a0001c0001t0004g0366 a0001c0001t0004g0367 a0001c0001t0004g0368 a0001c0001t0004g0369 a0001c0001t0004g0370 a0001c0001t0004g0371 a0001c0001t0004g0372 a0001c0001t0009g0241 a0001c0001t0009g0242 a0001c0001t0011g0144 a0001c0001t0011g0338 a0001c0001t0014g0003 a0001c0001t0018g0318 a0001c0001t0023g0374 a0001c0004t0001g0292 a0001c0004t0002g0021 a0001c0004t0002g0022 a0001c0004t0002g0023 a0001c0004t0002g0059 a0001c0004t0002g0143 a0001c0004t0002g0145 a0001c0004t0002g0146 a0001c0004t0002g0148 a0001c0004t0002g0158 a0001c0004t0002g0161 a0001c0004t0002g0167 a0001c0004t0002g0253 a0001c0004t0002g0290 a0001c0004t0002g0291 a0001c0004t0002g0298 a0001c0004t0002g0327 a0001c0004t0002g0340 a0001c0004t0002g0356 a0001c0004t0002g0357 a0001c0004t0008g0294 a0001c0004t0008g0325 a0001c0004t0008g0326 a0001c0004t0012g0355 a0001c0004t0012g0359 a0001c0004t0015g0010 a0001c0004t0020g0147 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0277 a0001c0010t0001g0045 a0001c0010t0001g0185 a0001c0010t0001g0186 a0001c0012t0002g0268 a0001c0012t0002g0269 a0001c0018t0001g0352 a0001c0019t0001g0171 a0001c0026t0001g0221 a0001c0037t0001g0287 a0001c0044t0002g0149 a0003c0003t0001g0001 a0003c0003t0001g0015 a0003c0003t0001g0108 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0132 a0003c0003t0001g0136 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0168 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0191 a0003c0003t0001g0194 a0003c0003t0001g0196 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0240 a0003c0003t0001g0244 a0003c0003t0001g0255 a0003c0003t0001g0257 a0003c0003t0001g0259 a0003c0003t0001g0278 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0288 a0003c0003t0001g0301 a0003c0003t0001g0321 a0003c0003t0001g0341 a0003c0003t0010g0198 a0003c0003t0010g0199 a0003c0020t0022g0373 a0003c0028t0001g0239 a0004c0005t0005g0004 a0004c0005t0005g0005 a0004c0005t0005g0006 a0004c0005t0005g0007 a0004c0005t0005g0008 a0004c0005t0006g0044 a0004c0005t0006g0188 a0004c0005t0006g0197 a0004c0005t0006g0360 a0004c0021t0006g0276 a0004c0042t0006g0189 a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 a0005c0006t0001g0177 a0005c0006t0001g0212 a0005c0006t0001g0256 a0005c0006t0001g0289 a0005c0027t0001g0195 a0006c0011t0007g0020 a0006c0011t0007g0025 a0006c0011t0007g0156 a0006c0039t0007g0024 a0008c0015t0001g0159 a0008c0015t0001g0160 a0010c0034t0002g0164 a0010c0035t0002g0165 a0011c0016t0001g0274 a0011c0016t0001g0275 a0012c0045t0001g0349 a0013c0029t0001g0351 a0014c0031t0001g0137 a0016c0036t0002g0166 a0017c0043t0001g0170 a0018c0017t0013g0002 a0020c0032t0001g0258 a0021c0033t0001g0279 a0022c0038t0001g0026 a0023c0041t0001g0157 a0026c0030t0005g0009 a0027c0040t0002g0358	281	374	0.7513	c.262 others(4): Show c.2621A>G	p.Asn others(6): Show p.Asn874Ser	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	21/36	2999/8887	2621/6801	874/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246891042	T T	C C	missense_variant missense_variant	MODERATE	HG01515.hp1 HG01515.hp1	a0017 a0017	a0017c0043 a0017c0043	a0017c0043t0001 a0017c0043t0001	a0017c0043t0001g0170 a0017c0043t0001g0170	1	374	0.0027	c.196 others(4): Show c.1964A>G	p.Asn others(6): Show p.Asn655Ser	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	16/36	2342/8887	1964/6801	655/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246904023	C C	T T	missense_variant missense_variant	MODERATE	HG01981.hp2 HG01981.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0013 a0018c0017t0013	a0018c0017t0013g0002 a0018c0017t0013g0002	1	374	0.0027	c.892 others(3): Show c.892G>A	p.Val others(6): Show p.Val298Ile	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	7/36	1270/8887	892/6801	298/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246916339	T T	C C	missense_variant missense_variant	MODERATE	HG02717.hp1 HG03098.hp1 HG02717.hp1 HG03098.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0274 a0011c0016t0001g0275 a0011c0016t0001g0274 a0011c0016t0001g0275	2	374	0.0053	c.178 others(3): Show c.178A>G	p.Ile others(5): Show p.Ile60Val	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	3/36	556/8887	178/6801	60/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246916357	G G	C C	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00423.hp1	a0012 a0012	a0012c0045 a0012c0045	a0012c0045t0001 a0012c0045t0001	a0012c0045t0001g0349 a0012c0045t0001g0349	1	374	0.0027	c.160 others(3): Show c.160C>G	p.Leu others(5): Show p.Leu54Val	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	3/36	538/8887	160/6801	54/2266	chr1	TogoVar
AHCYL1_chr1_109979765_110028742	110018391	C C	T T	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03704.hp2 HG03654.hp1 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0041 a0002c0002t0001g0042	2	348	0.0057	c.114 others(4): Show c.1142C>T	p.Thr others(6): Show p.Thr381Ile	AHCYL1	ENSG00000168710.18	transcript	ENST00000369799.10	protein_coding	12/17	1430/3943	1142/1593	381/530	chr1	TogoVar
AHCYL1_chr1_109979765_110028742	110019055	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0048 a0003c0005t0005g0048	1	348	0.0029	c.132 others(4): Show c.1322G>A	p.Arg others(6): Show p.Arg441His	AHCYL1	ENSG00000168710.18	transcript	ENST00000369799.10	protein_coding	14/17	1610/3943	1322/1593	441/530	chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129225252	G G	C C	missense_variant missense_variant	MODERATE	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0199 a0002c0003t0002g0199	1	290	0.0034	c.176 others(3): Show c.176G>C	p.Arg others(5): Show p.Arg59Pro	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/17	223/5049	176/1836	59/611	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129225410	G G	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0042 a0003c0004t0001g0042	1	290	0.0034	c.334 others(3): Show c.334G>A	p.Val others(6): Show p.Val112Ile	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/17	381/5049	334/1836	112/611	chr7	TogoVar
AHCY_chr20_34275268_34308355	34292436	C C	T T	missense_variant missense_variant	MODERATE	HG01981.hp1 HG01981.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0118 a0004c0003t0004g0118	1	298	0.0034	c.367 others(3): Show c.367G>A	p.Gly others(6): Show p.Gly123Arg	AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding	4/10	452/2150	367/1299	123/432	chr20	TogoVar
AHCY_chr20_34275268_34308355	34294102	T T	C C	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0130 a0003c0007t0001g0130	1	298	0.0034	c.274 others(3): Show c.274A>G	p.Ile others(5): Show p.Ile92Val	AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding	3/10	359/2150	274/1299	92/432	chr20	TogoVar
AHCY_chr20_34275268_34308355	34295412	C C	T T	missense_variant missense_variant	MODERATE	NA18612.hp1 NA18612.hp1	a0005 a0005	a0005c0002 a0005c0002	a0005c0002t0001 a0005c0002t0001	a0005c0002t0001g0081 a0005c0002t0001g0081	1	298	0.0034	c.202 others(3): Show c.202G>A	p.Val others(5): Show p.Val68Ile	AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding	2/10	287/2150	202/1299	68/432	chr20	TogoVar
AHCY_chr20_34275268_34308355	34295502	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0131 a0002c0008t0001g0131	1	298	0.0034	c.112 others(3): Show c.112C>T	p.Arg others(5): Show p.Arg38Trp	AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding	2/10	197/2150	112/1299	38/432	chr20	TogoVar
AHDC1_chr1_27529245_27609144	27548095	A A	C C	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0027 a0005c0013t0001g0027	1	178	0.0056	c.402 others(4): Show c.4021T>G	p.Cys others(7): Show p.Cys1341Gly	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	4922/6428	4021/4812	1341/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27549519	T T	C C	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0005 a0007c0016t0005	a0007c0016t0005g0100 a0007c0016t0005g0100	1	178	0.0056	c.259 others(4): Show c.2597A>G	p.Lys others(6): Show p.Lys866Arg	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	3498/6428	2597/4812	866/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27550758	G G	A A	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0007 a0006c0017t0007	a0006c0017t0007g0097 a0006c0017t0007g0097	1	178	0.0056	c.135 others(4): Show c.1358C>T	p.Pro others(6): Show p.Pro453Leu	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	2259/6428	1358/4812	453/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27551284	G G	A A	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp2 HG01255.hp2 others(7): Show HG01070.hp1 HG01071.hp2 HG01255.hp2 HG02257.hp1 HG02818.hp1 HG02965.hp2 HG03209.hp1 HG03486.hp2 NA18906.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0009 a0002c0003t0001g0062 others(6): Show a0002c0003t0001g0005 a0002c0003t0001g0009 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0098 a0002c0003t0001g0104 a0002c0003t0001g0144 a0002c0003t0001g0166	10	178	0.0562	c.832 others(3): Show c.832C>T	p.Pro others(6): Show p.Pro278Ser	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	1733/6428	832/4812	278/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27551305	G G	C C	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0160 a0008c0018t0001g0160	1	178	0.0056	c.811 others(3): Show c.811C>G	p.Pro others(6): Show p.Pro271Ala	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	1712/6428	811/4812	271/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27551454	G G	A A	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0005 a0009c0019t0005	a0009c0019t0005g0103 a0009c0019t0005g0103	1	178	0.0056	c.662 others(3): Show c.662C>T	p.Ala others(6): Show p.Ala221Val	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	1563/6428	662/4812	221/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27551646	G G	A A	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0001 a0010c0021t0001	a0010c0021t0001g0157 a0010c0021t0001g0157	1	178	0.0056	c.470 others(3): Show c.470C>T	p.Ala others(6): Show p.Ala157Val	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	1371/6428	470/4812	157/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27551830	G G	A A	missense_variant missense_variant	MODERATE	HG02486.hp1 NA19043.hp2 HG02486.hp1 NA19043.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0010 a0004c0010t0001g0013 a0004c0010t0001g0010 a0004c0010t0001g0013	2	178	0.0112	c.286 others(3): Show c.286C>T	p.Arg others(5): Show p.Arg96Cys	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	1187/6428	286/4812	96/1603	chr1	TogoVar
AHI1_chr6_135278532_135502740	135290465	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0003 a0010c0017t0003	a0010c0017t0003g0030 a0010c0017t0003g0030	1	218	0.0046	c.354 others(4): Show c.3546G>A	p.Met others(7): Show p.Met1182Ile	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	28/29	3905/6063	3546/3591	1182/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135323233	T T	C C	missense_variant missense_variant	MODERATE	HG02132.hp1 NA18747.hp2 NA19000.hp1 HG02132.hp1 NA18747.hp2 NA19000.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0097 a0003c0005t0001g0108 a0003c0005t0001g0109 a0003c0005t0001g0097 a0003c0005t0001g0108 a0003c0005t0001g0109	3	218	0.0138	c.325 others(4): Show c.3257A>G	p.Glu others(7): Show p.Glu1086Gly	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	25/29	3616/6063	3257/3591	1086/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135358133	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0003 a0012c0019t0003	a0012c0019t0003g0211 a0012c0019t0003g0211	1	218	0.0046	c.316 others(4): Show c.3164C>T	p.Thr others(7): Show p.Thr1055Met	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/29	3523/6063	3164/3591	1055/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135394832	T T	G G	missense_variant missense_variant	MODERATE	HG02109.hp2 HG03098.hp2 HG03195.hp1 others(1): Show HG02109.hp2 HG03098.hp2 HG03195.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0013 a0002c0004t0002g0014 a0002c0004t0002g0015 others(1): Show a0002c0004t0002g0013 a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0047	4	218	0.0183	c.305 others(4): Show c.3053A>C	p.Gln others(7): Show p.Gln1018Pro	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/29	3412/6063	3053/3591	1018/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135411508	T T	C C	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0004 a0011c0020t0004	a0011c0020t0004g0115 a0011c0020t0004g0115	1	218	0.0046	c.280 others(4): Show c.2801A>G	p.Asn others(6): Show p.Asn934Ser	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	21/29	3160/6063	2801/3591	934/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135427217	C C	G G	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02976.hp1 HG02280.hp2 HG02976.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0011 a0006c0007t0011	a0006c0007t0011g0075 a0006c0007t0011g0076 a0006c0007t0011g0075 a0006c0007t0011g0076	2	218	0.0092	c.271 others(4): Show c.2714G>C	p.Cys others(6): Show p.Cys905Ser	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	20/29	3073/6063	2714/3591	905/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135429886	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01516.hp1 HG01109.hp2 HG01516.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0068 a0004c0008t0001g0090 a0004c0008t0001g0068 a0004c0008t0001g0090	2	218	0.0092	c.248 others(4): Show c.2488C>T	p.Arg others(6): Show p.Arg830Trp	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	18/29	2847/6063	2488/3591	830/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135447144	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp2 HG00738.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0157 a0008c0012t0001g0157	1	218	0.0046	c.164 others(4): Show c.1643G>A	p.Arg others(6): Show p.Arg548His	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	13/29	2002/6063	1643/3591	548/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135457503	T T	G G	missense_variant missense_variant	MODERATE	HG01943.hp1 HG01943.hp1	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0001 a0009c0022t0001	a0009c0022t0001g0093 a0009c0022t0001g0093	1	218	0.0046	c.114 others(4): Show c.1142A>C	p.Lys others(6): Show p.Lys381Thr	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	9/29	1501/6063	1142/3591	381/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135465839	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02257.hp2 HG01884.hp1 HG02257.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0008 a0005c0009t0008	a0005c0009t0008g0005 a0005c0009t0008g0006 a0005c0009t0008g0005 a0005c0009t0008g0006	2	218	0.0092	c.724 others(3): Show c.724C>T	p.Pro others(6): Show p.Pro242Ser	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	7/29	1083/6063	724/3591	242/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135466046	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0059 a0007c0011t0001g0059	1	218	0.0046	c.517 others(3): Show c.517G>A	p.Ala others(6): Show p.Ala173Thr	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	7/29	876/6063	517/3591	173/1196	chr6	TogoVar

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