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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ALS2_chr2_201695267_201785933	201705468	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG03130.hp1 HG02622.hp2 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0040 a0001c0003t0007g0041 a0001c0003t0007g0040 a0001c0003t0007g0041	2	352	0.0057	0	c.458 others(6): Show c.4581-7A>G		ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	29/33					chr2	TogoVar
ALS2_chr2_201695267_201785933	201706839	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(113): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02165.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp2 HG03540.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0004c0008 a0005c0013	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0009t0001 a0004c0008t0001 a0005c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(102): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0046 a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0008g0279 a0001c0003t0001g0172 a0001c0009t0001g0016 a0001c0009t0001g0229 a0001c0009t0001g0311 a0004c0008t0001g0235 a0004c0008t0001g0236 a0004c0008t0001g0239 a0004c0008t0001g0240 a0005c0013t0001g0019	116	352	0.3295	0	c.458 others(6): Show c.4580+7G>A		ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	29/33					chr2	TogoVar
ALS2_chr2_201695267_201785933	201757396	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	352	0.0028	0	c.147 others(6): Show c.1471+6G>A		ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	5/33					chr2	TogoVar
ALS2_chr2_201695267_201785933	201757758	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0019 a0005c0013t0001g0019	2	352	0.0057	0	c.111 others(4): Show c.1115C>G	p.Pro others(6): Show p.Pro372Arg	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	5/34	1232/6675	1115/4974	372/1657		chr2	TogoVar
ALS2_chr2_201695267_201785933	201768859	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(112): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03491.hp2 HG03540.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0011 a0004c0008 a0005c0013	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0003t0002 a0001c0009t0001 a0001c0011t0001 a0004c0008t0001 a0005c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(101): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0008g0279 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0314 a0001c0002t0001g0324 a0001c0003t0002g0298 a0001c0003t0002g0299 a0001c0009t0001g0016 a0001c0009t0001g0311 a0001c0011t0001g0321 a0004c0008t0001g0235 a0004c0008t0001g0236 a0004c0008t0001g0239 a0004c0008t0001g0240 a0005c0013t0001g0019	115	352	0.3267	0	c.20+ others(4): Show c.20+7T>C		ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	2/33					chr2	TogoVar
ALYREF_chr17_81882835_81896586	81888418	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0023 a0001c0005t0001g0023	1	320	0.0031	0	c.603 others(3): Show c.603C>T	p.Ser others(6): Show p.Ser201Ser	ALYREF	ENSG00000183684.8	transcript	ENST00000505490.3	protein_coding	5/6	609/1097	603/795	201/264		chr17	TogoVar
AMBN_chr4_70587256_70612288	70599649	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19003.hp2 NA19012.hp2 NA19055.hp2 NA19003.hp2 NA19012.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0001g0079	3	478	0.0063	0	c.294 others(5): Show c.294+3G>A		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	5/12					chr4	TogoVar
AMBN_chr4_70587256_70612288	70607286	A A	G G	splice_region_variant splice_region_variant	LOW	HG01192.hp1 HG02004.hp2 HG02258.hp1 others(11): Show HG01192.hp1 HG02004.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02717.hp2 HG02976.hp1 HG03453.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0005 a0001c0001t0012 a0011c0014t0005 a0001c0001t0005 a0001c0001t0012 a0011c0014t0005	a0001c0001t0005g0002 a0001c0001t0005g0018 a0001c0001t0005g0023 others(7): Show a0001c0001t0005g0002 a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0001t0005g0094 a0001c0001t0005g0110 a0001c0001t0005g0113 a0001c0001t0005g0148 a0001c0001t0012g0092 a0011c0014t0005g0106 a0011c0014t0005g0130	14	478	0.0293	0	c.55 others(4): Show c.556A>G		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13					chr4	TogoVar
AMD1_chr6_110869785_110900713	110875222	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	392	0.0026	0	c.110 others(5): Show c.110+7C>T		AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	1/8					chr6	TogoVar
AMDHD1_chr12_95938331_95973720	95960623	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0043 a0001c0008t0001g0043	1	402	0.0025	0	c.813 others(3): Show c.813G>A	p.Glu others(6): Show p.Glu271Glu	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	5/9	881/2226	813/1281	271/426		chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95967736	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(288): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0002c0003 a0006c0010 a0007c0014 a0008c0009 a0009c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0002t0002 a0001c0004t0002 a0001c0007t0001 a0001c0008t0001 a0001c0011t0002 a0002c0003t0001 a0006c0010t0001 a0007c0014t0003 a0008c0009t0001 a0009c0012t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(203): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0005g0098 a0001c0001t0005g0122 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0130 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0169 a0001c0001t0007g0093 a0001c0001t0007g0115 a0001c0001t0010g0015 a0001c0001t0011g0176 a0001c0001t0012g0008 a0001c0001t0013g0167 a0001c0001t0014g0031 a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0011 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0052 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0004t0002g0237 a0001c0004t0002g0238 a0001c0004t0002g0253 a0001c0007t0001g0007 a0001c0008t0001g0043 a0001c0011t0002g0254 a0002c0003t0001g0028 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0060 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0079 a0002c0003t0001g0083 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0097 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0006c0010t0001g0044 a0007c0014t0003g0053 a0008c0009t0001g0008 a0009c0012t0002g0230	291	374	0.7781	1	c.119 others(7): Show c.1194-5dupT		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	8/8				INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95967736	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp2 HG01069.hp1 HG01071.hp2 others(21): Show HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG03017.hp1 HG03834.hp1 HG04228.hp1 HG06807.hp1 NA19030.hp2 NA19082.hp2 NA19087.hp1 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0003 a0005c0013 a0001c0002 a0002c0003 a0005c0013	a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 others(4): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0002c0003t0008 a0002c0003t0009 a0002c0003t0015 a0005c0013t0006	a0001c0002t0003g0024 a0001c0002t0003g0048 a0001c0002t0003g0049 others(17): Show a0001c0002t0003g0024 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0261 a0001c0002t0003g0264 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0006g0050 a0001c0002t0008g0265 a0002c0003t0008g0084 a0002c0003t0009g0080 a0002c0003t0009g0081 a0002c0003t0015g0078 a0005c0013t0006g0051	24	107	0.2243	-1	c.119 others(7): Show c.1194-5delT		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	8/8				INFO_REALIGN_3_PRIME	chr12	TogoVar
AMFR_chr16_56356452_56430545	56367440	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp1 HG00741.hp1 HG01978.hp1 others(17): Show HG00673.hp1 HG00741.hp1 HG01978.hp1 HG02083.hp2 HG02602.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG04204.hp1 NA18950.hp1 NA18952.hp1 NA18964.hp1 NA18969.hp1 NA18979.hp2 NA18987.hp2 NA19011.hp1 NA19030.hp1 NA19066.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 others(3): Show a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 a0001c0001t0046 a0001c0001t0047 a0001c0006t0055	a0001c0001t0009g0210 a0001c0001t0009g0211 a0001c0001t0009g0212 others(17): Show a0001c0001t0009g0210 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0215 a0001c0001t0009g0216 a0001c0001t0009g0217 a0001c0001t0009g0218 a0001c0001t0009g0223 a0001c0001t0009g0224 a0001c0001t0009g0232 a0001c0001t0020g0219 a0001c0001t0020g0221 a0001c0001t0020g0222 a0001c0001t0021g0340 a0001c0001t0021g0341 a0001c0001t0021g0342 a0001c0001t0046g0220 a0001c0001t0047g0214 a0001c0006t0055g0349	20	354	0.0565	0	c.159 others(6): Show c.1599+4A>G		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	12/13					chr16	TogoVar
AMHR2_chr12_53418855_53436672	53425455	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0002 a0003c0006t0001g0002	1	354	0.0028	0	c.503 others(3): Show c.503C>T	p.Ala others(6): Show p.Ala168Val	AMHR2	ENSG00000135409.11	transcript	ENST00000257863.9	protein_coding	5/11	583/2001	503/1722	168/573		chr12	TogoVar
AMHR2_chr12_53418855_53436672	53425581	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	354	0.0028	0	c.621 others(5): Show c.621+8A>G		AMHR2	ENSG00000135409.11	transcript	ENST00000257863.9	protein_coding	5/10					chr12	TogoVar
AMHR2_chr12_53418855_53436672	53425683	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp2 HG00597.hp1 others(86): Show HG00280.hp1 HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp2 HG02074.hp1 HG02080.hp1 HG02165.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03834.hp2 HG03927.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18981.hp2 NA18987.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19076.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0005c0004t0002 a0001c0001t0002 a0005c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 others(17): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0005c0004t0002g0003	89	353	0.2521	0	c.622 others(5): Show c.622-6C>T		AMHR2	ENSG00000135409.11	transcript	ENST00000257863.9	protein_coding	5/10					chr12	TogoVar
AMH_chr19_2244323_2257073	2249748	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19012.hp2 NA19012.hp2	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0001 a0015c0018t0001	a0015c0018t0001g0007 a0015c0018t0001g0007	1	430	0.0023	0	c.412 others(5): Show c.412+4T>G		AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/4					chr19	TogoVar
AMMECR1L_chr2_127856630_127890956	127871242	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	332	0.0030	0	c.518 others(5): Show c.518+7A>G		AMMECR1L	ENSG00000144233.12	transcript	ENST00000272647.10	protein_coding	4/7					chr2	TogoVar
AMN1_chr12_31666142_31734021	31702010	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	430	0.0023	0	c.172 others(5): Show c.172-3T>C		AMN1	ENSG00000151743.11	transcript	ENST00000281471.11	protein_coding	2/6					chr12	TogoVar
AMN_chr14_102917663_102935842	102930400	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	450	0.0022	0	c.117 others(6): Show c.1170-6C>T		AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	10/11					chr14	TogoVar
AMN_chr14_102917663_102935842	102930567	A A	AC AC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02080.hp1 HG03669.hp2 HG03927.hp2 others(1): Show HG02080.hp1 HG03669.hp2 HG03927.hp2 NA19083.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0006 a0001c0001 a0001c0005 a0006c0006	a0001c0001t0001 a0001c0001t0004 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0002 a0006c0006t0001	a0001c0001t0001g0032 a0001c0001t0004g0032 a0001c0005t0002g0064 others(1): Show a0001c0001t0001g0032 a0001c0001t0004g0032 a0001c0005t0002g0064 a0006c0006t0001g0055	4	450	0.0089	1	c.125 others(7): Show c.1258-5dupC		AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	11/11				INFO_REALIGN_3_PRIME	chr14	TogoVar
AMOTL1_chr11_94763356_94881748	94800309	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02602.hp2 HG02683.hp2 HG02738.hp2 others(1): Show HG02602.hp2 HG02683.hp2 HG02738.hp2 HG04204.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0037 a0003c0004t0041 others(1): Show a0003c0004t0021 a0003c0004t0037 a0003c0004t0041 a0003c0004t0043	a0003c0004t0021g0223 a0003c0004t0037g0212 a0003c0004t0041g0211 others(1): Show a0003c0004t0021g0223 a0003c0004t0037g0212 a0003c0004t0041g0211 a0003c0004t0043g0224	4	244	0.0164	0	c.111 others(4): Show c.1119G>A	p.Thr others(6): Show p.Thr373Thr	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	3/13	1275/8980	1119/2871	373/956		chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94800315	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0107 a0001c0001t0029g0107	1	244	0.0041	0	c.112 others(6): Show c.1121+4A>T		AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	3/12					chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94821531	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0021 a0010c0017t0021	a0010c0017t0021g0113 a0010c0017t0021g0113	1	244	0.0041	0	c.112 others(4): Show c.1123C>T	p.Arg others(6): Show p.Arg375Cys	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	4/13	1279/8980	1123/2871	375/956		chr11	TogoVar
AMPD1_chr1_114668098_114700546	114675870	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	356	0.0028	0	c.151 others(6): Show c.1515+7A>C		AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	11/15					chr1	TogoVar
AMPD1_chr1_114668098_114700546	114677902	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG00738.hp1 HG01106.hp2 others(6): Show HG00642.hp2 HG00738.hp1 HG01106.hp2 HG01258.hp1 HG01361.hp1 HG01978.hp1 HG01993.hp2 HG04115.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0056 a0001c0001t0001g0166 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0056 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0210	9	356	0.0253	0	c.122 others(6): Show c.1224+8G>A		AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	9/15					chr1	TogoVar
AMPD1_chr1_114668098_114700546	114693436	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG01123.hp2 HG01168.hp2 HG01361.hp2 others(1): Show HG01123.hp2 HG01168.hp2 HG01361.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0053 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0053 a0002c0003t0001g0211 a0002c0003t0001g0212	4	356	0.0112	0	c.34C others(2): Show c.34C>T	p.Gln others(3): Show p.Gln12*	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	2/16	109/2335	34/2244	12/747		chr1	TogoVar
AMPD2_chr1_109614837_109637051	109625658	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02886.hp1 HG02896.hp1 others(1): Show HG02572.hp2 HG02886.hp1 HG02896.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0098 a0002c0002t0002g0025 a0002c0002t0002g0098	4	386	0.0104	0	c.223 others(5): Show c.223-4C>T		AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	3/18					chr1	TogoVar
AMPD2_chr1_109614837_109637051	109627906	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	386	0.0026	0	c.108 others(6): Show c.1080+3G>A		AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	10/18					chr1	TogoVar
AMPD2_chr1_109614837_109637051	109628498	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0067	1	386	0.0026	0	c.140 others(6): Show c.1407+3A>G		AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	12/18					chr1	TogoVar
AMPD3_chr11_10450264_10512579	10478738	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp2 HG02896.hp1 NA19030.hp1 HG02818.hp2 HG02896.hp1 NA19030.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0012 a0002c0006t0005 a0002c0006t0012	a0002c0006t0005g0206 a0002c0006t0005g0207 a0002c0006t0012g0208 a0002c0006t0005g0206 a0002c0006t0005g0207 a0002c0006t0012g0208	3	388	0.0077	0	c.426 others(5): Show c.426+8G>A		AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	3/14					chr11	TogoVar
AMPH_chr7_38378704_38636373	38475424	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0228 a0001c0007t0005g0228	1	286	0.0035	0	c.505 others(5): Show c.505-8A>C		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	6/20					chr7	TogoVar
AMTN_chr4_70513569_70537743	70518739	A A	AGTAACAC others(6): Show AGTAACACTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02886.hp1 HG02896.hp1 others(7): Show HG02145.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0038 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057	10	456	0.0219	13	c.-15 others(25): Show c.-15-21_-15-9dupAACACTTTTTTGT		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	1/8				INFO_REALIGN_3_PRIME	chr4	TogoVar
AMTN_chr4_70513569_70537743	70518829	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0008 a0011c0013t0001g0008	1	456	0.0022	0	c.52C others(2): Show c.52C>T	p.Pro others(5): Show p.Pro18Ser	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	2/9	153/1009	52/630	18/209		chr4	TogoVar
AMTN_chr4_70513569_70537743	70523868	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0001 a0008c0012t0001g0001	1	456	0.0022	0	c.139 others(3): Show c.139G>T	p.Val others(5): Show p.Val47Phe	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	4/9	240/1009	139/630	47/209		chr4	TogoVar
AMTN_chr4_70513569_70537743	70523940	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	456	0.0022	0	c.204 others(5): Show c.204+7G>C		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	4/8					chr4	TogoVar
AMTN_chr4_70513569_70537743	70524865	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	456	0.0022	0	c.205 others(5): Show c.205-7C>T		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	4/8					chr4	TogoVar
AMT_chr3_49411778_49427473	49419154	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0039 a0005c0010t0001g0039	1	356	0.0028	0	c.697 others(5): Show c.697-3C>A		AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	6/8					chr3	TogoVar
AMT_chr3_49411778_49427473	49419156	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0039 a0005c0010t0001g0039	1	356	0.0028	0	c.697 others(5): Show c.697-5T>A		AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	6/8					chr3	TogoVar
AMY1A_chr1_103650760_103669554	103660486	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00408.hp2 HG00544.hp1 others(109): Show HG00140.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA18992.hp2 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19011.hp1 NA19059.hp1 NA19060.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19077.hp1 NA19078.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0005 a0006c0003 a0001c0001 a0004c0005 a0006c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0005t0001 a0006c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0002g0012 a0001c0001t0003g0002 a0004c0005t0001g0001 a0006c0003t0001g0002	112	230	0.4870	0	c.100 others(6): Show c.1001+4A>G		AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	7/10					chr1	TogoVar
AMY1B_chr1_103682415_103701210	103691484	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG01069.hp2 HG01071.hp1 others(23): Show HG00558.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01516.hp1 HG01943.hp1 HG02132.hp2 HG02257.hp1 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02738.hp1 HG02818.hp2 HG02897.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG06807.hp1 HG06807.hp2 NA19066.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0001 a0001c0001t0001 a0005c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0018 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0005c0004t0001g0037	26	160	0.1625	0	c.100 others(6): Show c.1001+4G>A		AMY1B	ENSG00000174876.17	transcript	ENST00000330330.10	protein_coding	7/10					chr1	TogoVar
AMY1B_chr1_103682415_103701210	103692567	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp1 HG06807.hp2 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0040 a0001c0001t0001g0070	2	160	0.0125	0	c.745 others(5): Show c.745-7C>T		AMY1B	ENSG00000174876.17	transcript	ENST00000330330.10	protein_coding	5/10					chr1	TogoVar
AMY1C_chr1_103744898_103763692	103750978	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	340	0.0029	0	c.169 others(5): Show c.169-5T>C		AMY1C	ENSG00000187733.7	transcript	ENST00000622339.5	protein_coding	2/10					chr1	TogoVar
AMY1C_chr1_103744898_103763692	103754625	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(25): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp1 HG01346.hp2 HG02055.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG03098.hp2 HG03688.hp2 HG06807.hp1 NA18955.hp2 NA18977.hp1 NA19030.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0007c0006t0001 a0001c0001t0001 a0007c0006t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0023 others(14): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0007c0006t0001g0090	28	340	0.0824	0	c.100 others(6): Show c.1001+4G>A		AMY1C	ENSG00000187733.7	transcript	ENST00000622339.5	protein_coding	7/10					chr1	TogoVar
AMY2A_chr1_103612427_103630780	103618903	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	310	0.0032	0	c.316 others(5): Show c.316-8T>C		AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	2/9					chr1	TogoVar
AMY2B_chr1_103566589_103584534	103573943	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00438.hp1 HG00558.hp1 others(59): Show HG00099.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG01069.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01516.hp1 HG01952.hp2 HG01981.hp1 HG02027.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02523.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp1 NA18612.hp1 NA18939.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp2 NA18963.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19012.hp1 NA19055.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19080.hp1 NA19086.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072	62	406	0.1527	0	c.744 others(5): Show c.744+5A>T		AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	4/9					chr1	TogoVar
AMY2B_chr1_103566589_103584534	103577484	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	406	0.0025	0	c.110 others(6): Show c.1102-6A>C		AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	7/9					chr1	TogoVar
AMY2B_chr1_103566589_103584534	103577853	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18951.hp2 NA18977.hp2 NA18988.hp1 NA18951.hp2 NA18977.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	3	406	0.0074	0	c.134 others(6): Show c.1346+8C>A		AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	9/9					chr1	TogoVar
AMZ1_chr7_2683202_2724683	2688304	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp2 HG01192.hp2	a0015 a0015	a0015c0035 a0015c0035	a0015c0035t0043 a0015c0035t0043	a0015c0035t0043g0028 a0015c0035t0043g0028	1	436	0.0023	0	c.-21 others(6): Show c.-219+8G>A		AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	1/6					chr7	TogoVar
AMZ1_chr7_2683202_2724683	2702716	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	436	0.0023	0	c.305 others(5): Show c.305-6C>T		AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	2/6					chr7	TogoVar

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