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
ABCC1_chr16_15944616_16148053	16007952	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0006 a0007c0016t0006	a0007c0016t0006g0088 a0007c0016t0006g0088	1	248	0.0040	c.185 others(3): Show c.185G>A	p.Arg others(5): Show p.Arg62Gln	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	2/31	321/6504	185/4596	62/1531	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16009828	T T	A A	missense_variant missense_variant	MODERATE	HG02080.hp2 HG02080.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0003 a0006c0018t0003	a0006c0018t0003g0123 a0006c0018t0003g0123	1	248	0.0040	c.278 others(3): Show c.278T>A	p.Phe others(5): Show p.Phe93Tyr	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	3/31	414/6504	278/4596	93/1531	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16036483	G G	A A	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0010 a0010c0019t0010	a0010c0019t0010g0009 a0010c0019t0010g0009	1	248	0.0040	c.689 others(3): Show c.689G>A	p.Arg others(6): Show p.Arg230Gln	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	7/31	825/6504	689/4596	230/1531	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16079375	G G	T T	missense_variant missense_variant	MODERATE	HG00738.hp2 HG00738.hp2	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0003 a0005c0034t0003	a0005c0034t0003g0249 a0005c0034t0003g0249	1	248	0.0040	c.201 others(4): Show c.2012G>T	p.Gly others(6): Show p.Gly671Val	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	16/31	2148/6504	2012/4596	671/1531	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16083418	G G	A A	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01981.hp1 HG02080.hp2 others(6): Show HG00609.hp1 HG01981.hp1 HG02080.hp2 HG02148.hp2 HG02300.hp2 NA18953.hp2 NA18983.hp2 NA19002.hp2 NA19065.hp2	a0002 a0006 a0002 a0006	a0002c0010 a0002c0011 a0006c0018 a0002c0010 a0002c0011 a0006c0018	a0002c0010t0002 a0002c0011t0003 a0002c0011t0007 others(1): Show a0002c0010t0002 a0002c0011t0003 a0002c0011t0007 a0006c0018t0003	a0002c0010t0002g0076 a0002c0010t0002g0127 a0002c0010t0002g0128 others(6): Show a0002c0010t0002g0076 a0002c0010t0002g0127 a0002c0010t0002g0128 a0002c0010t0002g0129 a0002c0011t0003g0126 a0002c0011t0003g0130 a0002c0011t0003g0223 a0002c0011t0007g0052 a0006c0018t0003g0123	9	248	0.0363	c.216 others(4): Show c.2168G>A	p.Arg others(6): Show p.Arg723Gln	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	17/31	2304/6504	2168/4596	723/1531	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16106797	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0006 a0008c0021t0006	a0008c0021t0006g0151 a0008c0021t0006g0151	1	248	0.0040	c.279 others(4): Show c.2795C>T	p.Ala others(6): Show p.Ala932Val	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	21/31	2931/6504	2795/4596	932/1531	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16111468	G G	A A	missense_variant missense_variant	MODERATE	NA20905.hp1 NA20905.hp1	a0011 a0011	a0011c0036 a0011c0036	a0011c0036t0001 a0011c0036t0001	a0011c0036t0001g0122 a0011c0036t0001g0122	1	248	0.0040	c.296 others(4): Show c.2965G>A	p.Ala others(6): Show p.Ala989Thr	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	22/31	3101/6504	2965/4596	989/1531	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16114826	G G	C C	missense_variant missense_variant	MODERATE	HG01496.hp1 HG02055.hp2 HG02145.hp1 others(3): Show HG01496.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG03139.hp2 NA19030.hp1	a0003 a0004 a0003 a0004	a0003c0026 a0003c0038 a0003c0039 others(3): Show a0003c0026 a0003c0038 a0003c0039 a0004c0024 a0004c0025 a0004c0031	a0003c0026t0006 a0003c0038t0006 a0003c0039t0006 others(3): Show a0003c0026t0006 a0003c0038t0006 a0003c0039t0006 a0004c0024t0021 a0004c0025t0006 a0004c0031t0009	a0003c0026t0006g0231 a0003c0038t0006g0092 a0003c0039t0006g0180 others(3): Show a0003c0026t0006g0231 a0003c0038t0006g0092 a0003c0039t0006g0180 a0004c0024t0021g0003 a0004c0025t0006g0001 a0004c0031t0009g0111	6	248	0.0242	c.314 others(4): Show c.3140G>C	p.Cys others(7): Show p.Cys1047Ser	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	23/31	3276/6504	3140/4596	1047/1531	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16122020	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02145.hp2 HG03139.hp2 HG02055.hp2 HG02145.hp2 HG03139.hp2	a0004 a0004	a0004c0024 a0004c0025 a0004c0031 a0004c0024 a0004c0025 a0004c0031	a0004c0024t0021 a0004c0025t0006 a0004c0031t0009 a0004c0024t0021 a0004c0025t0006 a0004c0031t0009	a0004c0024t0021g0003 a0004c0025t0006g0001 a0004c0031t0009g0111 a0004c0024t0021g0003 a0004c0025t0006g0001 a0004c0031t0009g0111	3	248	0.0121	c.343 others(4): Show c.3436G>A	p.Val others(7): Show p.Val1146Ile	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	24/31	3572/6504	3436/4596	1146/1531	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16138512	G G	A A	missense_variant missense_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0001 a0009c0027t0001	a0009c0027t0001g0029 a0009c0027t0001g0029	1	248	0.0040	c.444 others(4): Show c.4441G>A	p.Val others(7): Show p.Val1481Ile	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	30/31	4577/6504	4441/4596	1481/1531	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99784690	A A	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.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.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028	a0001c0001 a0001c0002 a0001c0005 others(37): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0014 a0001c0017 a0001c0027 a0001c0030 a0001c0035 a0001c0036 a0001c0038 a0001c0042 a0002c0003 a0002c0021 a0003c0004 a0004c0006 a0004c0029 a0005c0008 a0007c0009 a0008c0013 a0009c0011 a0010c0015 a0011c0012 a0012c0022 a0013c0034 a0014c0023 a0015c0019 a0016c0026 a0017c0031 a0018c0040 a0019c0041 a0020c0024 a0021c0032 a0022c0020 a0023c0018 a0024c0033 a0025c0037 a0026c0025 a0027c0028 a0028c0039	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(47): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0005t0001 a0001c0007t0003 a0001c0014t0001 a0001c0017t0001 a0001c0027t0001 a0001c0030t0001 a0001c0035t0002 a0001c0036t0001 a0001c0038t0001 a0001c0042t0002 a0002c0003t0001 a0002c0003t0004 a0002c0003t0009 a0002c0021t0003 a0003c0004t0001 a0004c0006t0001 a0004c0029t0001 a0005c0008t0001 a0007c0009t0001 a0008c0013t0001 a0009c0011t0001 a0010c0015t0001 a0011c0012t0001 a0012c0022t0001 a0013c0034t0002 a0014c0023t0001 a0015c0019t0001 a0016c0026t0006 a0017c0031t0001 a0018c0040t0002 a0019c0041t0002 a0020c0024t0001 a0021c0032t0001 a0022c0020t0001 a0023c0018t0001 a0024c0033t0003 a0025c0037t0001 a0026c0025t0001 a0027c0028t0001 a0028c0039t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(322): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0004g0121 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0292 a0001c0001t0005g0314 a0001c0001t0008g0291 a0001c0001t0010g0319 a0001c0002t0002g0034 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0053 a0001c0002t0002g0057 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0127 a0001c0002t0003g0020 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0041 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0056 a0001c0002t0003g0059 a0001c0002t0003g0064 a0001c0002t0003g0070 a0001c0002t0003g0072 a0001c0002t0003g0083 a0001c0002t0003g0085 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0120 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0168 a0001c0002t0003g0207 a0001c0002t0003g0222 a0001c0002t0003g0274 a0001c0002t0006g0018 a0001c0002t0006g0019 a0001c0002t0007g0128 a0001c0002t0007g0131 a0001c0002t0011g0031 a0001c0005t0001g0003 a0001c0005t0001g0155 a0001c0005t0001g0156 a0001c0005t0001g0160 a0001c0005t0001g0172 a0001c0007t0003g0024 a0001c0007t0003g0025 a0001c0007t0003g0026 a0001c0007t0003g0027 a0001c0007t0003g0028 a0001c0007t0003g0029 a0001c0014t0001g0023 a0001c0014t0001g0130 a0001c0017t0001g0167 a0001c0027t0001g0147 a0001c0030t0001g0293 a0001c0035t0002g0046 a0001c0036t0001g0232 a0001c0038t0001g0141 a0001c0042t0002g0067 a0002c0003t0001g0006 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0154 a0002c0003t0001g0209 a0002c0003t0001g0221 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0233 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0243 a0002c0003t0001g0245 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0256 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0289 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0312 a0002c0003t0001g0313 a0002c0003t0001g0324 a0002c0003t0001g0328 a0002c0003t0004g0234 a0002c0003t0004g0244 a0002c0003t0004g0255 a0002c0003t0009g0242 a0002c0021t0003g0257 a0003c0004t0001g0001 a0003c0004t0001g0146 a0003c0004t0001g0165 a0003c0004t0001g0166 a0003c0004t0001g0176 a0003c0004t0001g0177 a0003c0004t0001g0178 a0004c0006t0001g0022 a0004c0006t0001g0038 a0004c0006t0001g0080 a0004c0006t0001g0081 a0004c0006t0001g0096 a0004c0006t0001g0140 a0004c0029t0001g0329 a0005c0008t0001g0013 a0005c0008t0001g0030 a0005c0008t0001g0047 a0005c0008t0001g0077 a0007c0009t0001g0157 a0007c0009t0001g0163 a0007c0009t0001g0210 a0008c0013t0001g0325 a0008c0013t0001g0326 a0009c0011t0001g0318 a0009c0011t0001g0322 a0010c0015t0001g0016 a0010c0015t0001g0017 a0011c0012t0001g0215 a0011c0012t0001g0216 a0012c0022t0001g0268 a0013c0034t0002g0044 a0014c0023t0001g0217 a0015c0019t0001g0228 a0016c0026t0006g0021 a0017c0031t0001g0145 a0018c0040t0002g0099 a0019c0041t0002g0073 a0020c0024t0001g0015 a0021c0032t0001g0129 a0022c0020t0001g0309 a0023c0018t0001g0009 a0024c0033t0003g0082 a0025c0037t0001g0201 a0026c0025t0001g0158 a0027c0028t0001g0277 a0028c0039t0001g0327	332	334	0.9940	c.116 others(3): Show c.116A>T	p.Tyr others(5): Show p.Tyr39Phe	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	2/32	321/5806	116/4638	39/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99797306	G G	A A	missense_variant missense_variant	MODERATE	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0318 a0009c0011t0001g0322 a0009c0011t0001g0318 a0009c0011t0001g0322	2	334	0.0060	c.842 others(3): Show c.842G>A	p.Ser others(6): Show p.Ser281Asn	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	7/32	1047/5806	842/4638	281/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99799297	A A	G G	missense_variant missense_variant	MODERATE	HG02155.hp2 HG02155.hp2	a0018 a0018	a0018c0040 a0018c0040	a0018c0040t0002 a0018c0040t0002	a0018c0040t0002g0099 a0018c0040t0002g0099	1	334	0.0030	c.958 others(3): Show c.958A>G	p.Met others(6): Show p.Met320Val	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	8/32	1163/5806	958/4638	320/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99800412	G G	A A	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02897.hp2 HG03453.hp2 HG02895.hp2 HG02897.hp2 HG03453.hp2	a0011 a0023 a0011 a0023	a0011c0012 a0023c0018 a0011c0012 a0023c0018	a0011c0012t0001 a0023c0018t0001 a0011c0012t0001 a0023c0018t0001	a0011c0012t0001g0215 a0011c0012t0001g0216 a0023c0018t0001g0009 a0011c0012t0001g0215 a0011c0012t0001g0216 a0023c0018t0001g0009	3	334	0.0090	c.105 others(4): Show c.1058G>A	p.Arg others(6): Show p.Arg353His	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	9/32	1263/5806	1058/4638	353/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99800525	A A	G G	missense_variant missense_variant	MODERATE	NA20905.hp1 NA20905.hp1	a0028 a0028	a0028c0039 a0028c0039	a0028c0039t0001 a0028c0039t0001	a0028c0039t0001g0327 a0028c0039t0001g0327	1	334	0.0030	c.117 others(4): Show c.1171A>G	p.Lys others(6): Show p.Lys391Glu	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	9/32	1376/5806	1171/4638	391/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99804058	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(41): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01175.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG02004.hp1 HG02148.hp2 HG02258.hp2 HG02293.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18944.hp2 NA18954.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19066.hp2 NA19084.hp2 NA20905.hp1 NA21309.hp2	a0002 a0008 a0015 others(2): Show a0002 a0008 a0015 a0022 a0028	a0002c0003 a0002c0021 a0008c0013 others(3): Show a0002c0003 a0002c0021 a0008c0013 a0015c0019 a0022c0020 a0028c0039	a0002c0003t0001 a0002c0003t0004 a0002c0003t0009 others(5): Show a0002c0003t0001 a0002c0003t0004 a0002c0003t0009 a0002c0021t0003 a0008c0013t0001 a0015c0019t0001 a0022c0020t0001 a0028c0039t0001	a0002c0003t0001g0006 a0002c0003t0001g0137 a0002c0003t0001g0138 others(40): Show a0002c0003t0001g0006 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0154 a0002c0003t0001g0209 a0002c0003t0001g0221 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0233 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0243 a0002c0003t0001g0245 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0256 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0289 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0312 a0002c0003t0001g0313 a0002c0003t0001g0324 a0002c0003t0001g0328 a0002c0003t0004g0234 a0002c0003t0004g0244 a0002c0003t0004g0255 a0002c0003t0009g0242 a0002c0021t0003g0257 a0008c0013t0001g0325 a0008c0013t0001g0326 a0015c0019t0001g0228 a0022c0020t0001g0309 a0028c0039t0001g0327	44	334	0.1317	c.124 others(4): Show c.1249G>A	p.Val others(6): Show p.Val417Ile	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	10/32	1454/5806	1249/4638	417/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99804266	C C	T T	missense_variant missense_variant	MODERATE	NA18970.hp2 NA18970.hp2	a0025 a0025	a0025c0037 a0025c0037	a0025c0037t0001 a0025c0037t0001	a0025c0037t0001g0201 a0025c0037t0001g0201	1	334	0.0030	c.145 others(4): Show c.1457C>T	p.Thr others(6): Show p.Thr486Ile	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	10/32	1662/5806	1457/4638	486/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99805400	A A	G G	missense_variant missense_variant	MODERATE	HG01070.hp2 HG03017.hp2 HG01070.hp2 HG03017.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0325 a0008c0013t0001g0326 a0008c0013t0001g0325 a0008c0013t0001g0326	2	334	0.0060	c.148 others(4): Show c.1483A>G	p.Lys others(6): Show p.Lys495Glu	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	11/32	1688/5806	1483/4638	495/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99811599	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00423.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0001 a0012c0022t0001	a0012c0022t0001g0268 a0012c0022t0001g0268	1	334	0.0030	c.196 others(4): Show c.1964G>A	p.Arg others(6): Show p.Arg655Gln	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	15/32	2169/5806	1964/4638	655/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99830363	G G	C C	missense_variant missense_variant	MODERATE	NA18993.hp2 NA18993.hp2	a0026 a0026	a0026c0025 a0026c0025	a0026c0025t0001 a0026c0025t0001	a0026c0025t0001g0158 a0026c0025t0001g0158	1	334	0.0030	c.267 others(4): Show c.2677G>C	p.Glu others(6): Show p.Glu893Gln	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	20/32	2882/5806	2677/4638	893/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99830429	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp2 HG02451.hp2 HG00639.hp2 HG02451.hp2	a0014 a0020 a0014 a0020	a0014c0023 a0020c0024 a0014c0023 a0020c0024	a0014c0023t0001 a0020c0024t0001 a0014c0023t0001 a0020c0024t0001	a0014c0023t0001g0217 a0020c0024t0001g0015 a0014c0023t0001g0217 a0020c0024t0001g0015	2	334	0.0060	c.274 others(4): Show c.2743C>T	p.Arg others(6): Show p.Arg915Cys	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	20/32	2948/5806	2743/4638	915/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99830781	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp2 HG02451.hp2 HG00639.hp2 HG02451.hp2	a0014 a0020 a0014 a0020	a0014c0023 a0020c0024 a0014c0023 a0020c0024	a0014c0023t0001 a0020c0024t0001 a0014c0023t0001 a0020c0024t0001	a0014c0023t0001g0217 a0020c0024t0001g0015 a0014c0023t0001g0217 a0020c0024t0001g0015	2	334	0.0060	c.281 others(4): Show c.2813G>A	p.Ser others(6): Show p.Ser938Asn	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	21/32	3018/5806	2813/4638	938/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99831671	A A	G G	missense_variant missense_variant	MODERATE	HG00639.hp2 HG02451.hp2 HG00639.hp2 HG02451.hp2	a0014 a0020 a0014 a0020	a0014c0023 a0020c0024 a0014c0023 a0020c0024	a0014c0023t0001 a0020c0024t0001 a0014c0023t0001 a0020c0024t0001	a0014c0023t0001g0217 a0020c0024t0001g0015 a0014c0023t0001g0217 a0020c0024t0001g0015	2	334	0.0060	c.294 others(4): Show c.2944A>G	p.Ile others(6): Show p.Ile982Val	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	22/32	3149/5806	2944/4638	982/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99831980	T T	C C	missense_variant missense_variant	MODERATE	HG00733.hp1 HG00733.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0228 a0015c0019t0001g0228	1	334	0.0030	c.310 others(4): Show c.3107T>C	p.Ile others(7): Show p.Ile1036Thr	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	23/32	3312/5806	3107/4638	1036/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99832061	A A	G G	missense_variant missense_variant	MODERATE	HG00639.hp2 HG02451.hp2 HG00639.hp2 HG02451.hp2	a0014 a0020 a0014 a0020	a0014c0023 a0020c0024 a0014c0023 a0020c0024	a0014c0023t0001 a0020c0024t0001 a0014c0023t0001 a0020c0024t0001	a0014c0023t0001g0217 a0020c0024t0001g0015 a0014c0023t0001g0217 a0020c0024t0001g0015	2	334	0.0060	c.318 others(4): Show c.3188A>G	p.Asn others(7): Show p.Asn1063Ser	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	23/32	3393/5806	3188/4638	1063/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99832109	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01109.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0006 a0016c0026t0006	a0016c0026t0006g0021 a0016c0026t0006g0021	1	334	0.0030	c.323 others(4): Show c.3236G>A	p.Arg others(7): Show p.Arg1079Gln	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	23/32	3441/5806	3236/4638	1079/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99836218	G G	T T	missense_variant missense_variant	MODERATE	HG01358.hp2 HG02109.hp2 HG02622.hp1 others(6): Show HG01358.hp2 HG02109.hp2 HG02622.hp1 HG02809.hp1 HG02895.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0146 a0003c0004t0001g0165 others(4): Show a0003c0004t0001g0001 a0003c0004t0001g0146 a0003c0004t0001g0165 a0003c0004t0001g0166 a0003c0004t0001g0176 a0003c0004t0001g0177 a0003c0004t0001g0178	9	334	0.0269	c.354 others(4): Show c.3542G>T	p.Arg others(7): Show p.Arg1181Leu	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/32	3747/5806	3542/4638	1181/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99836239	T T	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00639.hp2 HG01074.hp1 others(4): Show HG00140.hp2 HG00639.hp2 HG01074.hp1 HG02300.hp2 HG03225.hp2 NA20129.hp2 NA21309.hp1	a0005 a0014 a0022 others(1): Show a0005 a0014 a0022 a0027	a0005c0008 a0014c0023 a0022c0020 others(1): Show a0005c0008 a0014c0023 a0022c0020 a0027c0028	a0005c0008t0001 a0014c0023t0001 a0022c0020t0001 others(1): Show a0005c0008t0001 a0014c0023t0001 a0022c0020t0001 a0027c0028t0001	a0005c0008t0001g0013 a0005c0008t0001g0030 a0005c0008t0001g0047 others(4): Show a0005c0008t0001g0013 a0005c0008t0001g0030 a0005c0008t0001g0047 a0005c0008t0001g0077 a0014c0023t0001g0217 a0022c0020t0001g0309 a0027c0028t0001g0277	7	334	0.0210	c.356 others(4): Show c.3563T>A	p.Val others(7): Show p.Val1188Glu	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/32	3768/5806	3563/4638	1188/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99843856	G G	T T	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00597.hp2	a0013 a0013	a0013c0034 a0013c0034	a0013c0034t0002 a0013c0034t0002	a0013c0034t0002g0044 a0013c0034t0002g0044	1	334	0.0030	c.379 others(4): Show c.3799G>T	p.Val others(7): Show p.Val1267Leu	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	27/32	4004/5806	3799/4638	1267/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99843874	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02717.hp2 HG02630.hp1 HG02717.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0016 a0010c0015t0001g0017 a0010c0015t0001g0016 a0010c0015t0001g0017	2	334	0.0060	c.381 others(4): Show c.3817A>G	p.Thr others(7): Show p.Thr1273Ala	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	27/32	4022/5806	3817/4638	1273/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99844350	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01891.hp2 HG02280.hp1 HG01109.hp1 HG01891.hp2 HG02280.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0157 a0007c0009t0001g0163 a0007c0009t0001g0210 a0007c0009t0001g0157 a0007c0009t0001g0163 a0007c0009t0001g0210	3	334	0.0090	c.387 others(4): Show c.3872C>T	p.Pro others(7): Show p.Pro1291Leu	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	28/32	4077/5806	3872/4638	1291/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99845711	A A	C C	missense_variant missense_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0001 a0021c0032t0001	a0021c0032t0001g0129 a0021c0032t0001g0129	1	334	0.0030	c.407 others(4): Show c.4075A>C	p.Ile others(7): Show p.Ile1359Leu	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	29/32	4280/5806	4075/4638	1359/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99847054	C C	T T	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0017 a0017	a0017c0031 a0017c0031	a0017c0031t0001 a0017c0031t0001	a0017c0031t0001g0145 a0017c0031t0001g0145	1	334	0.0030	c.424 others(4): Show c.4240C>T	p.His others(7): Show p.His1414Tyr	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	30/32	4445/5806	4240/4638	1414/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99850783	A A	G G	missense_variant missense_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0027 a0027	a0027c0028 a0027c0028	a0027c0028t0001 a0027c0028t0001	a0027c0028t0001g0277 a0027c0028t0001g0277	1	334	0.0030	c.449 others(4): Show c.4495A>G	p.Met others(7): Show p.Met1499Val	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	31/32	4700/5806	4495/4638	1499/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99851537	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00639.hp2 HG01074.hp1 others(13): Show HG00140.hp2 HG00639.hp2 HG01074.hp1 HG01496.hp2 HG02055.hp1 HG02109.hp1 HG02300.hp2 HG02451.hp2 HG02622.hp2 HG02896.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp1 NA18906.hp1 NA20129.hp2 NA21309.hp1	a0004 a0005 a0014 others(4): Show a0004 a0005 a0014 a0020 a0022 a0023 a0027	a0004c0006 a0004c0029 a0005c0008 others(5): Show a0004c0006 a0004c0029 a0005c0008 a0014c0023 a0020c0024 a0022c0020 a0023c0018 a0027c0028	a0004c0006t0001 a0004c0029t0001 a0005c0008t0001 others(5): Show a0004c0006t0001 a0004c0029t0001 a0005c0008t0001 a0014c0023t0001 a0020c0024t0001 a0022c0020t0001 a0023c0018t0001 a0027c0028t0001	a0004c0006t0001g0022 a0004c0006t0001g0038 a0004c0006t0001g0080 others(13): Show a0004c0006t0001g0022 a0004c0006t0001g0038 a0004c0006t0001g0080 a0004c0006t0001g0081 a0004c0006t0001g0096 a0004c0006t0001g0140 a0004c0029t0001g0329 a0005c0008t0001g0013 a0005c0008t0001g0030 a0005c0008t0001g0047 a0005c0008t0001g0077 a0014c0023t0001g0217 a0020c0024t0001g0015 a0022c0020t0001g0309 a0023c0018t0001g0009 a0027c0028t0001g0277	16	334	0.0479	c.454 others(4): Show c.4544G>A	p.Cys others(7): Show p.Cys1515Tyr	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	32/32	4749/5806	4544/4638	1515/1545	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99851561	A A	C C	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0024 a0024	a0024c0033 a0024c0033	a0024c0033t0003 a0024c0033t0003	a0024c0033t0003g0082 a0024c0033t0003g0082	1	334	0.0030	c.456 others(4): Show c.4568A>C	p.Gln others(7): Show p.Gln1523Pro	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	32/32	4773/5806	4568/4638	1523/1545	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50634968	G G	A A	missense_variant missense_variant	MODERATE	NA18968.hp1 NA19003.hp2 NA19079.hp2 NA18968.hp1 NA19003.hp2 NA19079.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0269 a0006c0011t0001g0270 a0006c0011t0001g0271 a0006c0011t0001g0269 a0006c0011t0001g0270 a0006c0011t0001g0271	3	340	0.0088	c.32G others(2): Show c.32G>A	p.Gly others(5): Show p.Gly11Asp	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	1/31	88/5693	32/4584	11/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50634975	G G	C C	missense_variant missense_variant	MODERATE	HG01516.hp2 HG01516.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0327 a0011c0015t0001g0327	1	340	0.0029	c.39G others(2): Show c.39G>C	p.Lys others(5): Show p.Lys13Asn	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	1/31	95/5693	39/4584	13/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50656775	G G	A A	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0022 a0022	a0022c0016 a0022c0016	a0022c0016t0001 a0022c0016t0001	a0022c0016t0001g0038 a0022c0016t0001g0038	1	340	0.0029	c.296 others(3): Show c.296G>A	p.Arg others(5): Show p.Arg99Gln	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	3/31	352/5693	296/4584	99/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50660987	C C	T T	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0024 a0024	a0024c0041 a0024c0041	a0024c0041t0001 a0024c0041t0001	a0024c0041t0001g0096 a0024c0041t0001g0096	1	340	0.0029	c.871 others(3): Show c.871C>T	p.Arg others(6): Show p.Arg291Trp	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	8/31	927/5693	871/4584	291/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50661096	T T	C C	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0024 a0024	a0024c0041 a0024c0041	a0024c0041t0001 a0024c0041t0001	a0024c0041t0001g0096 a0024c0041t0001g0096	1	340	0.0029	c.980 others(3): Show c.980T>C	p.Ile others(6): Show p.Ile327Thr	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	8/31	1036/5693	980/4584	327/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50663760	T T	C C	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02809.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0072 a0013c0019t0001g0072	1	340	0.0029	c.107 others(4): Show c.1078T>C	p.Ser others(6): Show p.Ser360Pro	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	9/31	1134/5693	1078/4584	360/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50663839	T T	G G	missense_variant missense_variant	MODERATE	HG03471.hp2 HG03471.hp2	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0001 a0016c0020t0001	a0016c0020t0001g0064 a0016c0020t0001g0064	1	340	0.0029	c.115 others(4): Show c.1157T>G	p.Met others(6): Show p.Met386Arg	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	9/31	1213/5693	1157/4584	386/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50665235	G G	A A	missense_variant missense_variant	MODERATE	NA19060.hp2 NA19060.hp2	a0021 a0021	a0021c0021 a0021c0021	a0021c0021t0001 a0021c0021t0001	a0021c0021t0001g0068 a0021c0021t0001g0068	1	340	0.0029	c.142 others(4): Show c.1421G>A	p.Arg others(6): Show p.Arg474His	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	11/31	1477/5693	1421/4584	474/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50667698	C C	T T	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00621.hp2	a0010 a0010	a0010c0040 a0010c0040	a0010c0040t0002 a0010c0040t0002	a0010c0040t0002g0058 a0010c0040t0002g0058	1	340	0.0029	c.157 others(4): Show c.1576C>T	p.Arg others(6): Show p.Arg526Cys	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	12/31	1632/5693	1576/4584	526/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50668467	G G	A A	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01891.hp1 HG02280.hp2 others(4): Show HG01069.hp2 HG01891.hp1 HG02280.hp2 HG02572.hp2 HG02630.hp1 HG03579.hp2 HG06807.hp1	a0004 a0004	a0004c0007 a0004c0023 a0004c0007 a0004c0023	a0004c0007t0001 a0004c0023t0001 a0004c0007t0001 a0004c0023t0001	a0004c0007t0001g0005 a0004c0007t0001g0060 a0004c0007t0001g0062 others(4): Show a0004c0007t0001g0005 a0004c0007t0001g0060 a0004c0007t0001g0062 a0004c0007t0001g0118 a0004c0007t0001g0119 a0004c0007t0001g0205 a0004c0023t0001g0004	7	340	0.0206	c.182 others(4): Show c.1820G>A	p.Ser others(6): Show p.Ser607Asn	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	14/31	1876/5693	1820/4584	607/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673022	G G	C C	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01891.hp1 HG02280.hp2 others(4): Show HG01069.hp2 HG01891.hp1 HG02280.hp2 HG02572.hp2 HG02630.hp1 HG03579.hp2 HG06807.hp1	a0004 a0004	a0004c0007 a0004c0023 a0004c0007 a0004c0023	a0004c0007t0001 a0004c0023t0001 a0004c0007t0001 a0004c0023t0001	a0004c0007t0001g0005 a0004c0007t0001g0060 a0004c0007t0001g0062 others(4): Show a0004c0007t0001g0005 a0004c0007t0001g0060 a0004c0007t0001g0062 a0004c0007t0001g0118 a0004c0007t0001g0119 a0004c0007t0001g0205 a0004c0023t0001g0004	7	340	0.0206	c.229 others(4): Show c.2293G>C	p.Val others(6): Show p.Val765Leu	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	18/31	2349/5693	2293/4584	765/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50675674	C C	T T	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01891.hp2 HG02559.hp2 others(9): Show HG01081.hp2 HG01891.hp2 HG02559.hp2 HG02922.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1	a0002 a0002	a0002c0006 a0002c0010 a0002c0036 a0002c0006 a0002c0010 a0002c0036	a0002c0006t0001 a0002c0010t0001 a0002c0036t0001 a0002c0006t0001 a0002c0010t0001 a0002c0036t0001	a0002c0006t0001g0002 a0002c0006t0001g0003 a0002c0006t0001g0024 others(9): Show a0002c0006t0001g0002 a0002c0006t0001g0003 a0002c0006t0001g0024 a0002c0006t0001g0098 a0002c0006t0001g0105 a0002c0006t0001g0233 a0002c0006t0001g0333 a0002c0010t0001g0027 a0002c0010t0001g0066 a0002c0010t0001g0117 a0002c0010t0001g0248 a0002c0036t0001g0231	12	340	0.0353	c.275 others(4): Show c.2758C>T	p.Pro others(6): Show p.Pro920Ser	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	21/31	2814/5693	2758/4584	920/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50676314	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0014 a0014	a0014c0035 a0014c0035	a0014c0035t0001 a0014c0035t0001	a0014c0035t0001g0042 a0014c0035t0001g0042	1	340	0.0029	c.310 others(4): Show c.3104C>T	p.Ala others(7): Show p.Ala1035Val	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	23/31	3160/5693	3104/4584	1035/1527	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50676485	A A	G G	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00544.hp1	a0009 a0009	a0009c0044 a0009c0044	a0009c0044t0001 a0009c0044t0001	a0009c0044t0001g0246 a0009c0044t0001g0246	1	340	0.0029	c.327 others(4): Show c.3275A>G	p.Asn others(7): Show p.Asn1092Ser	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	23/31	3331/5693	3275/4584	1092/1527	chr17	TogoVar

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