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
ADAMTSL4_chr1_150544408_150565933	150553568	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0003 a0004 others(17): Show a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0026	a0002c0002 a0002c0003 a0002c0005 others(35): Show a0002c0002 a0002c0003 a0002c0005 a0002c0008 a0002c0009 a0002c0011 a0002c0012 a0002c0022 a0002c0033 a0002c0037 a0002c0040 a0002c0042 a0002c0045 a0002c0054 a0003c0004 a0003c0031 a0003c0032 a0004c0013 a0004c0016 a0004c0023 a0007c0020 a0007c0030 a0008c0025 a0009c0024 a0010c0019 a0011c0026 a0012c0021 a0014c0029 a0015c0038 a0016c0039 a0017c0046 a0018c0041 a0019c0044 a0020c0047 a0021c0043 a0022c0034 a0023c0035 a0026c0036	a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 others(42): Show a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0002c0003t0001 a0002c0005t0001 a0002c0005t0010 a0002c0008t0001 a0002c0009t0001 a0002c0011t0001 a0002c0012t0001 a0002c0012t0005 a0002c0022t0001 a0002c0033t0001 a0002c0037t0001 a0002c0040t0001 a0002c0042t0001 a0002c0045t0001 a0002c0054t0005 a0003c0004t0001 a0003c0004t0007 a0003c0031t0001 a0003c0032t0001 a0004c0013t0001 a0004c0016t0001 a0004c0016t0003 a0004c0023t0003 a0007c0020t0001 a0007c0020t0006 a0007c0030t0006 a0008c0025t0001 a0009c0024t0004 a0010c0019t0001 a0011c0026t0001 a0012c0021t0001 a0014c0029t0001 a0015c0038t0001 a0016c0039t0001 a0017c0046t0001 a0018c0041t0001 a0019c0044t0001 a0020c0047t0001 a0021c0043t0001 a0022c0034t0001 a0023c0035t0001 a0026c0036t0001	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0009 others(99): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0040 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0099 a0002c0002t0008g0001 a0002c0002t0009g0001 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0016 a0002c0003t0001g0028 a0002c0003t0001g0030 a0002c0003t0001g0032 a0002c0003t0001g0041 a0002c0003t0001g0044 a0002c0003t0001g0066 a0002c0003t0001g0091 a0002c0003t0001g0098 a0002c0005t0001g0001 a0002c0005t0001g0009 a0002c0005t0001g0015 a0002c0005t0001g0022 a0002c0005t0001g0025 a0002c0005t0001g0037 a0002c0005t0001g0068 a0002c0005t0010g0063 a0002c0008t0001g0003 a0002c0008t0001g0009 a0002c0008t0001g0059 a0002c0008t0001g0064 a0002c0009t0001g0003 a0002c0009t0001g0009 a0002c0009t0001g0010 a0002c0009t0001g0029 a0002c0011t0001g0014 a0002c0011t0001g0018 a0002c0011t0001g0026 a0002c0012t0001g0010 a0002c0012t0001g0016 a0002c0012t0001g0071 a0002c0012t0001g0072 a0002c0012t0005g0001 a0002c0022t0001g0014 a0002c0022t0001g0017 a0002c0033t0001g0070 a0002c0037t0001g0010 a0002c0040t0001g0016 a0002c0042t0001g0089 a0002c0045t0001g0093 a0002c0054t0005g0095 a0003c0004t0001g0006 a0003c0004t0001g0013 a0003c0004t0001g0035 a0003c0004t0001g0036 a0003c0004t0001g0069 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0007g0006 a0003c0031t0001g0006 a0003c0032t0001g0036 a0004c0013t0001g0023 a0004c0013t0001g0048 a0004c0013t0001g0049 a0004c0013t0001g0094 a0004c0016t0001g0001 a0004c0016t0001g0023 a0004c0016t0003g0061 a0004c0023t0003g0060 a0004c0023t0003g0062 a0007c0020t0001g0096 a0007c0020t0006g0001 a0007c0030t0006g0001 a0008c0025t0001g0003 a0009c0024t0004g0027 a0010c0019t0001g0001 a0011c0026t0001g0018 a0012c0021t0001g0039 a0014c0029t0001g0003 a0015c0038t0001g0007 a0016c0039t0001g0003 a0017c0046t0001g0001 a0018c0041t0001g0003 a0019c0044t0001g0097 a0020c0047t0001g0088 a0021c0043t0001g0001 a0022c0034t0001g0003 a0023c0035t0001g0003 a0026c0036t0001g0009	244	438	0.5571	c.577 others(3): Show c.577G>C	p.Ala others(6): Show p.Ala193Pro	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	6/19	827/4212	577/3225	193/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150553575	C C	T T	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0020 a0020	a0020c0047 a0020c0047	a0020c0047t0001 a0020c0047t0001	a0020c0047t0001g0088 a0020c0047t0001g0088	1	438	0.0023	c.584 others(3): Show c.584C>T	p.Pro others(6): Show p.Pro195Leu	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	6/19	834/4212	584/3225	195/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150553613	G G	A A	missense_variant missense_variant	MODERATE	HG02615.hp2 HG03453.hp2 HG02615.hp2 HG03453.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0001 a0010c0019t0001g0001	2	438	0.0046	c.622 others(3): Show c.622G>A	p.Gly others(6): Show p.Gly208Ser	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	6/19	872/4212	622/3225	208/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150553794	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00639.hp1 HG00099.hp2 HG00639.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0003 a0008c0025t0001g0003	2	438	0.0046	c.803 others(3): Show c.803C>T	p.Ser others(6): Show p.Ser268Phe	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	6/19	1053/4212	803/3225	268/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150553911	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 HG03834.hp2 HG04115.hp2 HG01891.hp2 HG03834.hp2 HG04115.hp2	a0007 a0007	a0007c0020 a0007c0030 a0007c0020 a0007c0030	a0007c0020t0001 a0007c0020t0006 a0007c0030t0006 a0007c0020t0001 a0007c0020t0006 a0007c0030t0006	a0007c0020t0001g0096 a0007c0020t0006g0001 a0007c0030t0006g0001 a0007c0020t0001g0096 a0007c0020t0006g0001 a0007c0030t0006g0001	3	438	0.0068	c.920 others(3): Show c.920G>A	p.Arg others(6): Show p.Arg307Gln	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	6/19	1170/4212	920/3225	307/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150553917	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00642.hp1 HG01070.hp1 others(32): Show HG00438.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01261.hp2 HG01346.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG03704.hp2 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18967.hp1 NA18969.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19082.hp1 NA19087.hp1	a0003 a0012 a0024 a0003 a0012 a0024	a0003c0004 a0003c0031 a0003c0032 others(2): Show a0003c0004 a0003c0031 a0003c0032 a0012c0021 a0024c0048	a0003c0004t0001 a0003c0004t0007 a0003c0031t0001 others(3): Show a0003c0004t0001 a0003c0004t0007 a0003c0031t0001 a0003c0032t0001 a0012c0021t0001 a0024c0048t0001	a0003c0004t0001g0006 a0003c0004t0001g0013 a0003c0004t0001g0035 others(10): Show a0003c0004t0001g0006 a0003c0004t0001g0013 a0003c0004t0001g0035 a0003c0004t0001g0036 a0003c0004t0001g0069 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0007g0006 a0003c0031t0001g0006 a0003c0032t0001g0036 a0012c0021t0001g0039 a0024c0048t0001g0047	35	438	0.0799	c.926 others(3): Show c.926G>A	p.Arg others(6): Show p.Arg309Gln	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	6/19	1176/4212	926/3225	309/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150553970	C C	T T	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0017 a0017	a0017c0046 a0017c0046	a0017c0046t0001 a0017c0046t0001	a0017c0046t0001g0001 a0017c0046t0001g0001	1	438	0.0023	c.979 others(3): Show c.979C>T	p.Arg others(6): Show p.Arg327Cys	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	6/19	1229/4212	979/3225	327/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150554374	C C	G G	missense_variant missense_variant	MODERATE	HG02738.hp2 HG02738.hp2	a0018 a0018	a0018c0041 a0018c0041	a0018c0041t0001 a0018c0041t0001	a0018c0041t0001g0003 a0018c0041t0001g0003	1	438	0.0023	c.114 others(4): Show c.1141C>G	p.Pro others(6): Show p.Pro381Ala	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	7/19	1391/4212	1141/3225	381/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150555444	G G	A A	missense_variant missense_variant	MODERATE	NA19003.hp1 NA19087.hp1 NA19003.hp1 NA19087.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0039 a0012c0021t0001g0039	2	438	0.0046	c.125 others(4): Show c.1250G>A	p.Arg others(6): Show p.Arg417His	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	8/19	1500/4212	1250/3225	417/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150557533	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02818.hp2 HG02055.hp2 HG02818.hp2	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0004 a0009c0024t0004	a0009c0024t0004g0027 a0009c0024t0004g0027	2	438	0.0046	c.208 others(4): Show c.2087C>T	p.Ser others(6): Show p.Ser696Leu	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	13/19	2337/4212	2087/3225	696/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150557566	C C	T T	missense_variant missense_variant	MODERATE	HG02083.hp2 HG02083.hp2	a0016 a0016	a0016c0039 a0016c0039	a0016c0039t0001 a0016c0039t0001	a0016c0039t0001g0003 a0016c0039t0001g0003	1	438	0.0023	c.212 others(4): Show c.2120C>T	p.Ala others(6): Show p.Ala707Val	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	13/19	2370/4212	2120/3225	707/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150558072	C C	G G	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01106.hp2	a0015 a0015	a0015c0038 a0015c0038	a0015c0038t0001 a0015c0038t0001	a0015c0038t0001g0007 a0015c0038t0001g0007	1	438	0.0023	c.230 others(4): Show c.2305C>G	p.Leu others(6): Show p.Leu769Val	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	14/19	2555/4212	2305/3225	769/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150558569	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00544.hp2	a0013 a0013	a0013c0050 a0013c0050	a0013c0050t0001 a0013c0050t0001	a0013c0050t0001g0005 a0013c0050t0001g0005	1	438	0.0023	c.247 others(4): Show c.2479C>T	p.Pro others(6): Show p.Pro827Ser	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	15/19	2729/4212	2479/3225	827/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150558602	A A	G G	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01891.hp1 HG02145.hp2 others(13): Show HG01433.hp2 HG01891.hp1 HG02145.hp2 HG02451.hp1 HG02622.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 NA21309.hp2	a0004 a0005 a0011 a0004 a0005 a0011	a0004c0013 a0004c0016 a0004c0023 others(2): Show a0004c0013 a0004c0016 a0004c0023 a0005c0015 a0011c0026	a0004c0013t0001 a0004c0016t0001 a0004c0016t0003 others(3): Show a0004c0013t0001 a0004c0016t0001 a0004c0016t0003 a0004c0023t0003 a0005c0015t0002 a0011c0026t0001	a0004c0013t0001g0023 a0004c0013t0001g0048 a0004c0013t0001g0049 others(10): Show a0004c0013t0001g0023 a0004c0013t0001g0048 a0004c0013t0001g0049 a0004c0013t0001g0094 a0004c0016t0001g0001 a0004c0016t0001g0023 a0004c0016t0003g0061 a0004c0023t0003g0060 a0004c0023t0003g0062 a0005c0015t0002g0021 a0005c0015t0002g0034 a0005c0015t0002g0082 a0011c0026t0001g0018	16	438	0.0365	c.251 others(4): Show c.2512A>G	p.Met others(6): Show p.Met838Val	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	15/19	2762/4212	2512/3225	838/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559031	G G	A A	missense_variant missense_variant	MODERATE	HG02083.hp2 HG02083.hp2	a0016 a0016	a0016c0039 a0016c0039	a0016c0039t0001 a0016c0039t0001	a0016c0039t0001g0003 a0016c0039t0001g0003	1	438	0.0023	c.262 others(4): Show c.2629G>A	p.Gly others(6): Show p.Gly877Arg	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2879/4212	2629/3225	877/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559061	A A	G G	missense_variant missense_variant	MODERATE	NA19054.hp1 NA19054.hp1	a0026 a0026	a0026c0036 a0026c0036	a0026c0036t0001 a0026c0036t0001	a0026c0036t0001g0009 a0026c0036t0001g0009	1	438	0.0023	c.265 others(4): Show c.2659A>G	p.Thr others(6): Show p.Thr887Ala	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2909/4212	2659/3225	887/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559089	G G	T T	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0003 a0023c0035t0001g0003	1	438	0.0023	c.268 others(4): Show c.2687G>T	p.Arg others(6): Show p.Arg896Leu	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2937/4212	2687/3225	896/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559091	C C	G G	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0003 a0023c0035t0001g0003	1	438	0.0023	c.268 others(4): Show c.2689C>G	p.Pro others(6): Show p.Pro897Ala	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2939/4212	2689/3225	897/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559099	C C	A A	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0003 a0023c0035t0001g0003	1	438	0.0023	c.269 others(4): Show c.2697C>A	p.Asp others(6): Show p.Asp899Glu	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2947/4212	2697/3225	899/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559102	G G	T T	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0003 a0023c0035t0001g0003	1	438	0.0023	c.270 others(4): Show c.2700G>T	p.Met others(6): Show p.Met900Ile	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2950/4212	2700/3225	900/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559103	C C	G G	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0003 a0023c0035t0001g0003	1	438	0.0023	c.270 others(4): Show c.2701C>G	p.Arg others(6): Show p.Arg901Gly	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2951/4212	2701/3225	901/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559132	A A	C C	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0003 a0023c0035t0001g0003	1	438	0.0023	c.273 others(4): Show c.2730A>C	p.Arg others(6): Show p.Arg910Ser	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2980/4212	2730/3225	910/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559134	C C	G G	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0003 a0023c0035t0001g0003	1	438	0.0023	c.273 others(4): Show c.2732C>G	p.Thr others(6): Show p.Thr911Ser	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2982/4212	2732/3225	911/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559136	T T	A A	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0003 a0023c0035t0001g0003	1	438	0.0023	c.273 others(4): Show c.2734T>A	p.Trp others(6): Show p.Trp912Arg	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2984/4212	2734/3225	912/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559144	G G	T T	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0003 a0023c0035t0001g0003	1	438	0.0023	c.274 others(4): Show c.2742G>T	p.Trp others(6): Show p.Trp914Cys	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2992/4212	2742/3225	914/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559146	A A	G G	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0003 a0023c0035t0001g0003	1	438	0.0023	c.274 others(4): Show c.2744A>G	p.Tyr others(6): Show p.Tyr915Cys	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	16/19	2994/4212	2744/3225	915/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559429	C C	A A	missense_variant missense_variant	MODERATE	HG03704.hp1 HG03704.hp1	a0021 a0021	a0021c0043 a0021c0043	a0021c0043t0001 a0021c0043t0001	a0021c0043t0001g0001 a0021c0043t0001g0001	1	438	0.0023	c.290 others(4): Show c.2906C>A	p.Ala others(6): Show p.Ala969Asp	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	17/19	3156/4212	2906/3225	969/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559780	G G	C C	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18952.hp1	a0022 a0022	a0022c0034 a0022c0034	a0022c0034t0001 a0022c0034t0001	a0022c0034t0001g0003 a0022c0034t0001g0003	1	438	0.0023	c.296 others(4): Show c.2963G>C	p.Gly others(6): Show p.Gly988Ala	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	18/19	3213/4212	2963/3225	988/1074	chr1	TogoVar
ADAMTSL4_chr1_150544408_150565933	150559786	C C	T T	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0019 a0019	a0019c0044 a0019c0044	a0019c0044t0001 a0019c0044t0001	a0019c0044t0001g0097 a0019c0044t0001g0097	1	438	0.0023	c.296 others(4): Show c.2969C>T	p.Thr others(6): Show p.Thr990Met	ADAMTSL4	ENSG00000143382.16	transcript	ENST00000271643.9	protein_coding	18/19	3219/4212	2969/3225	990/1074	chr1	TogoVar
ADAMTSL5_chr19_1500022_1518019	1506220	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0030 a0002c0017t0030	a0002c0017t0030g0161 a0002c0017t0030g0161	1	350	0.0029	c.121 others(4): Show c.1211G>A	p.Arg others(6): Show p.Arg404Gln	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding	12/12	1485/2683	1211/1416	404/471	chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1506221	G G	A A	missense_variant missense_variant	MODERATE	HG00738.hp2 HG01069.hp1 HG00738.hp2 HG01069.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0032 a0002c0007t0001g0032	2	350	0.0057	c.121 others(4): Show c.1210C>T	p.Arg others(6): Show p.Arg404Trp	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding	12/12	1484/2683	1210/1416	404/471	chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1506825	A A	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG03130.hp2 NA20300.hp1 HG02976.hp2 HG03130.hp2 NA20300.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0079 a0003c0006t0002g0085 a0003c0006t0002g0087 a0003c0006t0002g0079 a0003c0006t0002g0085 a0003c0006t0002g0087	3	349	0.0086	c.956 others(3): Show c.956T>A	p.Leu others(6): Show p.Leu319Gln	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding	10/12	1230/2683	956/1416	319/471	chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1507271	C C	T T	missense_variant missense_variant	MODERATE	HG02683.hp1 HG02683.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0019 a0008c0010t0019	a0008c0010t0019g0187 a0008c0010t0019g0187	1	350	0.0029	c.823 others(3): Show c.823G>A	p.Gly others(6): Show p.Gly275Arg	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding	9/12	1097/2683	823/1416	275/471	chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1507403	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0005 a0004c0016t0005	a0004c0016t0005g0144 a0004c0016t0005g0144	1	350	0.0029	c.691 others(3): Show c.691C>A	p.Leu others(6): Show p.Leu231Met	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding	9/12	965/2683	691/1416	231/471	chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1507586	C C	A A	missense_variant missense_variant	MODERATE	HG01934.hp1 HG01934.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0003 a0005c0014t0003	a0005c0014t0003g0182 a0005c0014t0003g0182	1	350	0.0029	c.659 others(3): Show c.659G>T	p.Arg others(6): Show p.Arg220Leu	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding	8/12	933/2683	659/1416	220/471	chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1508033	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0107 a0006c0015t0002g0107	1	350	0.0029	c.566 others(3): Show c.566C>T	p.Ser others(6): Show p.Ser189Leu	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding	7/12	840/2683	566/1416	189/471	chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1510639	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0036 a0007c0009t0036	a0007c0009t0036g0205 a0007c0009t0036g0205	1	350	0.0029	c.191 others(3): Show c.191G>A	p.Arg others(5): Show p.Arg64Gln	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding	3/12	465/2683	191/1416	64/471	chr19	TogoVar
ADAP2_chr17_30916945_30964322	30926831	T T	A A	missense_variant missense_variant	MODERATE	NA18994.hp2 NA18994.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0211 a0003c0002t0001g0211	1	280	0.0036	c.230 others(3): Show c.230T>A	p.Met others(5): Show p.Met77Lys	ADAP2	ENSG00000184060.11	transcript	ENST00000330889.8	protein_coding	3/11	300/2669	230/1146	77/381	chr17	TogoVar
ADARB1_chr21_45069580_45231560	45175760	G G	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0072 a0002c0016t0072	a0002c0016t0072g0047 a0002c0016t0072g0047	1	348	0.0029	c.59G others(2): Show c.59G>T	p.Arg others(5): Show p.Arg20Leu	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	4/11	492/6902	59/2106	20/701	chr21	TogoVar
ADARB1_chr21_45069580_45231560	45176531	C C	T T	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0214 a0003c0014t0002g0214	1	348	0.0029	c.830 others(3): Show c.830C>T	p.Ser others(6): Show p.Ser277Leu	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	4/11	1263/6902	830/2106	277/701	chr21	TogoVar
ADARB1_chr21_45069580_45231560	45222092	G G	C C	missense_variant missense_variant	MODERATE	NA19085.hp1 NA19085.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0045 a0004c0011t0045	a0004c0011t0045g0253 a0004c0011t0045g0253	1	348	0.0029	c.200 others(4): Show c.2001G>C	p.Glu others(6): Show p.Glu667Asp	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	11/11	2434/6902	2001/2106	667/701	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1185028	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00438.hp1 HG00639.hp1 others(46): Show HG00408.hp2 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG01081.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp1 HG03669.hp1 HG04184.hp2 NA18945.hp1 NA18967.hp1 NA18967.hp2 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA19011.hp2 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA19086.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0008 a0010	a0002c0002 a0002c0004 a0002c0014 others(5): Show a0002c0002 a0002c0004 a0002c0014 a0002c0016 a0004c0005 a0005c0010 a0008c0008 a0010c0012	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(28): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0021 a0002c0002t0026 a0002c0002t0027 a0002c0002t0038 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0044 a0002c0002t0046 a0002c0002t0048 a0002c0002t0053 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0004t0005 a0002c0004t0028 a0002c0004t0047 a0002c0014t0008 a0002c0016t0006 a0004c0005t0002 a0004c0005t0037 a0005c0010t0006 a0008c0008t0016 a0010c0012t0007	a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0066 others(46): Show a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0075 a0002c0002t0004g0082 a0002c0002t0004g0084 a0002c0002t0004g0088 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0004g0101 a0002c0002t0005g0012 a0002c0002t0005g0022 a0002c0002t0005g0028 a0002c0002t0005g0033 a0002c0002t0006g0011 a0002c0002t0006g0018 a0002c0002t0006g0019 a0002c0002t0007g0001 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0008g0042 a0002c0002t0008g0047 a0002c0002t0008g0058 a0002c0002t0021g0035 a0002c0002t0026g0032 a0002c0002t0027g0021 a0002c0002t0038g0048 a0002c0002t0041g0074 a0002c0002t0042g0061 a0002c0002t0043g0053 a0002c0002t0044g0049 a0002c0002t0046g0056 a0002c0002t0048g0068 a0002c0002t0053g0106 a0002c0002t0062g0093 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0002t0065g0086 a0002c0004t0005g0029 a0002c0004t0028g0020 a0002c0004t0047g0063 a0002c0014t0008g0060 a0002c0016t0006g0010 a0004c0005t0002g0039 a0004c0005t0037g0064 a0005c0010t0006g0014 a0008c0008t0016g0003 a0010c0012t0007g0006	49	106	0.4623	c.187 others(4): Show c.1876G>A	p.Ala others(6): Show p.Ala626Thr	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	9/10	2251/8475	1876/2220	626/739	chr10	TogoVar
ADARB2_chr10_1172313_1742525	1200002	G G	T T	missense_variant missense_variant	MODERATE	NA19011.hp1 NA19011.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0014 a0009c0015t0014	a0009c0015t0014g0008 a0009c0015t0014g0008	1	106	0.0094	c.182 others(4): Show c.1828C>A	p.Pro others(6): Show p.Pro610Thr	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	8/10	2203/8475	1828/2220	610/739	chr10	TogoVar
ADARB2_chr10_1172313_1742525	1217039	C C	T T	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0020 a0007c0013t0020	a0007c0013t0020g0037 a0007c0013t0020g0037	1	106	0.0094	c.159 others(4): Show c.1594G>A	p.Val others(6): Show p.Val532Met	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	7/10	1969/8475	1594/2220	532/739	chr10	TogoVar
ADARB2_chr10_1172313_1742525	1217099	C C	T T	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0034 a0011c0011t0034	a0011c0011t0034g0076 a0011c0011t0034g0076	1	106	0.0094	c.153 others(4): Show c.1534G>A	p.Val others(6): Show p.Val512Ile	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	7/10	1909/8475	1534/2220	512/739	chr10	TogoVar
ADARB2_chr10_1172313_1742525	1363207	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0006 a0005c0010t0006	a0005c0010t0006g0014 a0005c0010t0006g0014	1	106	0.0094	c.898 others(3): Show c.898G>A	p.Glu others(6): Show p.Glu300Lys	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/10	1273/8475	898/2220	300/739	chr10	TogoVar
ADARB2_chr10_1172313_1742525	1363297	T T	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 NA18983.hp1 NA19086.hp1 HG00438.hp2 NA18983.hp1 NA19086.hp1	a0003 a0010 a0003 a0010	a0003c0006 a0010c0012 a0003c0006 a0010c0012	a0003c0006t0003 a0003c0006t0067 a0010c0012t0007 a0003c0006t0003 a0003c0006t0067 a0010c0012t0007	a0003c0006t0003g0090 a0003c0006t0067g0080 a0010c0012t0007g0006 a0003c0006t0003g0090 a0003c0006t0067g0080 a0010c0012t0007g0006	3	106	0.0283	c.808 others(3): Show c.808A>G	p.Thr others(6): Show p.Thr270Ala	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/10	1183/8475	808/2220	270/739	chr10	TogoVar
ADARB2_chr10_1172313_1742525	1363822	C C	A A	missense_variant missense_variant	MODERATE	NA19011.hp1 NA19011.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0014 a0009c0015t0014	a0009c0015t0014g0008 a0009c0015t0014g0008	1	106	0.0094	c.283 others(3): Show c.283G>T	p.Gly others(5): Show p.Gly95Cys	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/10	658/8475	283/2220	95/739	chr10	TogoVar
ADARB2_chr10_1172313_1742525	1363834	C C	T T	missense_variant missense_variant	MODERATE	NA18998.hp1 NA18998.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0016 a0008c0008t0016	a0008c0008t0016g0003 a0008c0008t0016g0003	1	106	0.0094	c.271 others(3): Show c.271G>A	p.Gly others(5): Show p.Gly91Ser	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/10	646/8475	271/2220	91/739	chr10	TogoVar
ADARB2_chr10_1172313_1742525	1379131	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02717.hp1 HG03669.hp1 others(1): Show HG02257.hp1 HG02717.hp1 HG03669.hp1 NA18998.hp1	a0004 a0006 a0008 a0004 a0006 a0008	a0004c0005 a0006c0009 a0008c0008 a0004c0005 a0006c0009 a0008c0008	a0004c0005t0002 a0004c0005t0037 a0006c0009t0024 others(1): Show a0004c0005t0002 a0004c0005t0037 a0006c0009t0024 a0008c0008t0016	a0004c0005t0002g0039 a0004c0005t0037g0064 a0006c0009t0024g0016 others(1): Show a0004c0005t0002g0039 a0004c0005t0037g0064 a0006c0009t0024g0016 a0008c0008t0016g0003	4	106	0.0377	c.130 others(3): Show c.130G>A	p.Ala others(5): Show p.Ala44Thr	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	2/10	505/8475	130/2220	44/739	chr10	TogoVar

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