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
ALKBH8_chr11_107497727_107570735	107553959	C C	T T	synonymous_variant synonymous_variant	LOW	HG02818.hp1 HG02886.hp1 HG02818.hp1 HG02886.hp1	a0012 a0013 a0012 a0013	a0012c0021 a0013c0020 a0012c0021 a0013c0020	a0012c0021t0001 a0013c0020t0009 a0012c0021t0001 a0013c0020t0009	a0012c0021t0001g0199 a0013c0020t0009g0310 a0012c0021t0001g0199 a0013c0020t0009g0310	2	398	0.0050	c.387 others(3): Show c.387G>A	p.Arg others(6): Show p.Arg129Arg	ALKBH8	ENSG00000137760.15	transcript	ENST00000428149.7	protein_coding	4/12	528/4067	387/1995	129/664	chr11	TogoVar
ALKBH8_chr11_107497727_107570735	107556890	C C	G G	synonymous_variant synonymous_variant	LOW	HG01081.hp2 HG01109.hp2 HG01243.hp1 others(37): Show HG01081.hp2 HG01109.hp2 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0009 others(5): Show a0001 a0002 a0009 a0012 a0013 a0014 a0015 a0016	a0001c0003 a0001c0007 a0002c0004 others(6): Show a0001c0003 a0001c0007 a0002c0004 a0009c0012 a0012c0021 a0013c0020 a0014c0014 a0015c0013 a0016c0015	a0001c0003t0001 a0001c0003t0003 a0001c0003t0007 others(12): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0007 a0001c0003t0008 a0001c0003t0010 a0001c0003t0013 a0001c0007t0001 a0001c0007t0011 a0002c0004t0001 a0009c0012t0009 a0012c0021t0001 a0013c0020t0009 a0014c0014t0001 a0015c0013t0001 a0016c0015t0003	a0001c0003t0001g0194 a0001c0003t0001g0215 a0001c0003t0001g0224 others(33): Show a0001c0003t0001g0194 a0001c0003t0001g0215 a0001c0003t0001g0224 a0001c0003t0003g0213 a0001c0003t0003g0214 a0001c0003t0003g0218 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0276 a0001c0003t0007g0035 a0001c0003t0007g0222 a0001c0003t0007g0225 a0001c0003t0008g0018 a0001c0003t0008g0318 a0001c0003t0010g0223 a0001c0003t0010g0272 a0001c0003t0013g0293 a0001c0007t0001g0198 a0001c0007t0001g0210 a0001c0007t0011g0050 a0001c0007t0011g0051 a0002c0004t0001g0042 a0002c0004t0001g0204 a0002c0004t0001g0263 a0002c0004t0001g0264 a0002c0004t0001g0265 a0002c0004t0001g0266 a0002c0004t0001g0267 a0002c0004t0001g0268 a0002c0004t0001g0269 a0009c0012t0009g0221 a0012c0021t0001g0199 a0013c0020t0009g0310 a0014c0014t0001g0192 a0015c0013t0001g0200 a0016c0015t0003g0193	40	398	0.1005	c.243 others(3): Show c.243G>C	p.Pro others(5): Show p.Pro81Pro	ALKBH8	ENSG00000137760.15	transcript	ENST00000428149.7	protein_coding	3/12	384/4067	243/1995	81/664	chr11	TogoVar
ALK_chr2_29187774_29926586	29193263	A A	G G	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0047 a0001c0048t0001g0047	1	80	0.0125	c.482 others(4): Show c.4824T>C	p.Ile others(7): Show p.Ile1608Ile	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	29/29	5751/6240	4824/4863	1608/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29193491	G G	A A	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG01891.hp1 HG02055.hp2 others(3): Show HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02622.hp2 HG03041.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0020 a0001c0025 others(2): Show a0001c0009 a0001c0020 a0001c0025 a0001c0037 a0001c0050	a0001c0009t0005 a0001c0020t0005 a0001c0025t0011 others(2): Show a0001c0009t0005 a0001c0020t0005 a0001c0025t0011 a0001c0037t0005 a0001c0050t0014	a0001c0009t0005g0018 a0001c0009t0005g0054 a0001c0020t0005g0005 others(3): Show a0001c0009t0005g0018 a0001c0009t0005g0054 a0001c0020t0005g0005 a0001c0025t0011g0074 a0001c0037t0005g0028 a0001c0050t0014g0077	6	80	0.0750	c.459 others(4): Show c.4596C>T	p.Asn others(7): Show p.Asn1532Asn	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	29/29	5523/6240	4596/4863	1532/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29193749	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00738.hp2 HG02109.hp1 others(3): Show HG00140.hp1 HG00738.hp2 HG02109.hp1 HG02486.hp2 HG02895.hp1 HG03041.hp1	a0001 a0001	a0001c0017 a0001c0033 a0001c0039 others(3): Show a0001c0017 a0001c0033 a0001c0039 a0001c0048 a0001c0051 a0001c0058	a0001c0017t0001 a0001c0033t0001 a0001c0039t0013 others(3): Show a0001c0017t0001 a0001c0033t0001 a0001c0039t0013 a0001c0048t0001 a0001c0051t0001 a0001c0058t0001	a0001c0017t0001g0012 a0001c0033t0001g0029 a0001c0039t0013g0079 others(3): Show a0001c0017t0001g0012 a0001c0033t0001g0029 a0001c0039t0013g0079 a0001c0048t0001g0047 a0001c0051t0001g0019 a0001c0058t0001g0024	6	80	0.0750	c.433 others(4): Show c.4338C>T	p.Thr others(7): Show p.Thr1446Thr	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	29/29	5265/6240	4338/4863	1446/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29193884	A A	G G	synonymous_variant synonymous_variant	LOW	HG02280.hp1 HG02622.hp1 HG02895.hp2 others(8): Show HG02280.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 NA18906.hp1 NA20300.hp1	a0003 a0004 a0003 a0004	a0003c0010 a0003c0026 a0003c0034 others(4): Show a0003c0010 a0003c0026 a0003c0034 a0003c0043 a0004c0002 a0004c0032 a0004c0042	a0003c0010t0006 a0003c0026t0002 a0003c0034t0002 others(4): Show a0003c0010t0006 a0003c0026t0002 a0003c0034t0002 a0003c0043t0002 a0004c0002t0003 a0004c0032t0003 a0004c0042t0003	a0003c0010t0006g0001 a0003c0010t0006g0002 a0003c0026t0002g0015 others(8): Show a0003c0010t0006g0001 a0003c0010t0006g0002 a0003c0026t0002g0015 a0003c0034t0002g0071 a0003c0043t0002g0039 a0004c0002t0003g0025 a0004c0002t0003g0041 a0004c0002t0003g0057 a0004c0002t0003g0058 a0004c0032t0003g0052 a0004c0042t0003g0073	11	80	0.1375	c.420 others(4): Show c.4203T>C	p.Tyr others(7): Show p.Tyr1401Tyr	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	29/29	5130/6240	4203/4863	1401/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29222559	G G	A A	synonymous_variant synonymous_variant	LOW	HG02280.hp1 HG02622.hp1 HG03139.hp2 others(6): Show HG02280.hp1 HG02622.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 NA18906.hp1 NA20300.hp1	a0003 a0004 a0003 a0004	a0003c0026 a0003c0034 a0003c0043 others(3): Show a0003c0026 a0003c0034 a0003c0043 a0004c0002 a0004c0032 a0004c0042	a0003c0026t0002 a0003c0034t0002 a0003c0043t0002 others(3): Show a0003c0026t0002 a0003c0034t0002 a0003c0043t0002 a0004c0002t0003 a0004c0032t0003 a0004c0042t0003	a0003c0026t0002g0015 a0003c0034t0002g0071 a0003c0043t0002g0039 others(6): Show a0003c0026t0002g0015 a0003c0034t0002g0071 a0003c0043t0002g0039 a0004c0002t0003g0025 a0004c0002t0003g0041 a0004c0002t0003g0057 a0004c0002t0003g0058 a0004c0032t0003g0052 a0004c0042t0003g0073	9	80	0.1125	c.340 others(4): Show c.3408C>T	p.Ser others(7): Show p.Ser1136Ser	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	21/29	4335/6240	3408/4863	1136/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29222592	G G	T T	synonymous_variant synonymous_variant	LOW	HG00323.hp1 HG00323.hp2 HG01074.hp1 others(23): Show HG00323.hp1 HG00323.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG02004.hp2 HG02071.hp2 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 NA18906.hp1 NA18969.hp2 NA19043.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0040 a0002c0055 a0003c0003 others(14): Show a0001c0040 a0002c0055 a0003c0003 a0003c0005 a0003c0010 a0003c0012 a0003c0015 a0003c0026 a0003c0031 a0003c0034 a0003c0041 a0003c0043 a0004c0002 a0004c0032 a0004c0042 a0004c0045 a0007c0057	a0001c0040t0001 a0002c0055t0001 a0003c0003t0002 others(14): Show a0001c0040t0001 a0002c0055t0001 a0003c0003t0002 a0003c0005t0002 a0003c0010t0006 a0003c0012t0002 a0003c0015t0002 a0003c0026t0002 a0003c0031t0002 a0003c0034t0002 a0003c0041t0002 a0003c0043t0002 a0004c0002t0003 a0004c0032t0003 a0004c0042t0003 a0004c0045t0002 a0007c0057t0002	a0001c0040t0001g0022 a0002c0055t0001g0031 a0003c0003t0002g0038 others(23): Show a0001c0040t0001g0022 a0002c0055t0001g0031 a0003c0003t0002g0038 a0003c0003t0002g0059 a0003c0003t0002g0065 a0003c0005t0002g0032 a0003c0005t0002g0046 a0003c0005t0002g0048 a0003c0010t0006g0001 a0003c0010t0006g0002 a0003c0012t0002g0034 a0003c0012t0002g0067 a0003c0015t0002g0010 a0003c0026t0002g0015 a0003c0031t0002g0030 a0003c0034t0002g0071 a0003c0041t0002g0044 a0003c0043t0002g0039 a0004c0002t0003g0025 a0004c0002t0003g0041 a0004c0002t0003g0057 a0004c0002t0003g0058 a0004c0032t0003g0052 a0004c0042t0003g0073 a0004c0045t0002g0043 a0007c0057t0002g0023	26	80	0.3250	c.337 others(4): Show c.3375C>A	p.Gly others(7): Show p.Gly1125Gly	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	21/29	4302/6240	3375/4863	1125/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29226953	C C	T T	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG01433.hp1 HG02145.hp2 others(8): Show HG00140.hp1 HG01433.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0017 a0001c0022 a0001c0033 others(6): Show a0001c0017 a0001c0022 a0001c0033 a0001c0038 a0001c0039 a0002c0007 a0002c0008 a0002c0052 a0002c0056	a0001c0017t0001 a0001c0022t0001 a0001c0033t0001 others(6): Show a0001c0017t0001 a0001c0022t0001 a0001c0033t0001 a0001c0038t0001 a0001c0039t0013 a0002c0007t0001 a0002c0008t0001 a0002c0052t0001 a0002c0056t0001	a0001c0017t0001g0012 a0001c0022t0001g0007 a0001c0033t0001g0029 others(8): Show a0001c0017t0001g0012 a0001c0022t0001g0007 a0001c0033t0001g0029 a0001c0038t0001g0035 a0001c0039t0013g0079 a0002c0007t0001g0064 a0002c0007t0001g0066 a0002c0008t0001g0045 a0002c0008t0001g0049 a0002c0052t0001g0017 a0002c0056t0001g0040	11	80	0.1375	c.303 others(4): Show c.3036G>A	p.Thr others(7): Show p.Thr1012Thr	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	18/29	3963/6240	3036/4863	1012/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29229029	G G	T T	synonymous_variant synonymous_variant	LOW	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0010 a0001c0023t0010	a0001c0023t0010g0076 a0001c0023t0010g0076	1	80	0.0125	c.267 others(4): Show c.2670C>A	p.Leu others(6): Show p.Leu890Leu	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	16/29	3597/6240	2670/4863	890/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29232401	A A	G G	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(39): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp1 HG02071.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 NA18906.hp1 NA18906.hp2 NA18969.hp1 NA19043.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0004 a0001c0017 a0001c0020 others(29): Show a0001c0004 a0001c0017 a0001c0020 a0001c0027 a0001c0033 a0001c0035 a0001c0038 a0001c0039 a0001c0040 a0001c0051 a0001c0053 a0001c0058 a0002c0001 a0002c0007 a0002c0008 a0002c0011 a0002c0014 a0002c0018 a0002c0028 a0002c0030 a0002c0052 a0002c0056 a0003c0010 a0003c0015 a0003c0026 a0003c0034 a0003c0041 a0003c0043 a0003c0054 a0004c0042 a0006c0029 a0007c0057	a0001c0004t0001 a0001c0004t0008 a0001c0017t0001 others(30): Show a0001c0004t0001 a0001c0004t0008 a0001c0017t0001 a0001c0020t0005 a0001c0027t0001 a0001c0033t0001 a0001c0035t0001 a0001c0038t0001 a0001c0039t0013 a0001c0040t0001 a0001c0051t0001 a0001c0053t0001 a0001c0058t0001 a0002c0001t0001 a0002c0007t0001 a0002c0008t0001 a0002c0011t0001 a0002c0014t0001 a0002c0018t0001 a0002c0028t0001 a0002c0030t0001 a0002c0052t0001 a0002c0056t0001 a0003c0010t0006 a0003c0015t0002 a0003c0026t0002 a0003c0034t0002 a0003c0041t0002 a0003c0043t0002 a0003c0054t0002 a0004c0042t0003 a0006c0029t0001 a0007c0057t0002	a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 others(39): Show a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 a0001c0017t0001g0012 a0001c0020t0005g0005 a0001c0027t0001g0013 a0001c0033t0001g0029 a0001c0035t0001g0068 a0001c0038t0001g0035 a0001c0039t0013g0079 a0001c0040t0001g0022 a0001c0051t0001g0019 a0001c0053t0001g0070 a0001c0058t0001g0024 a0002c0001t0001g0027 a0002c0001t0001g0033 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0007t0001g0064 a0002c0007t0001g0066 a0002c0008t0001g0045 a0002c0008t0001g0049 a0002c0011t0001g0042 a0002c0011t0001g0051 a0002c0014t0001g0009 a0002c0018t0001g0008 a0002c0028t0001g0014 a0002c0030t0001g0060 a0002c0052t0001g0017 a0002c0056t0001g0040 a0003c0010t0006g0001 a0003c0010t0006g0002 a0003c0015t0002g0010 a0003c0026t0002g0015 a0003c0034t0002g0071 a0003c0041t0002g0044 a0003c0043t0002g0039 a0003c0054t0002g0069 a0004c0042t0003g0073 a0006c0029t0001g0016 a0007c0057t0002g0023	42	80	0.5250	c.253 others(4): Show c.2535T>C	p.Gly others(6): Show p.Gly845Gly	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	15/29	3462/6240	2535/4863	845/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29233622	G G	A A	synonymous_variant synonymous_variant	LOW	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0056 a0002c0056	a0002c0056t0001 a0002c0056t0001	a0002c0056t0001g0040 a0002c0056t0001g0040	1	80	0.0125	c.243 others(4): Show c.2430C>T	p.Ser others(6): Show p.Ser810Ser	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	14/29	3357/6240	2430/4863	810/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29239767	G G	A A	synonymous_variant synonymous_variant	LOW	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0007 a0001c0022t0001g0007	1	80	0.0125	c.226 others(4): Show c.2268C>T	p.Gly others(6): Show p.Gly756Gly	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	13/29	3195/6240	2268/4863	756/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29251134	G G	A A	synonymous_variant synonymous_variant	LOW	HG01074.hp2 HG02572.hp1 HG02622.hp2 HG01074.hp2 HG02572.hp1 HG02622.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0050 a0002c0049 a0007c0057 a0001c0050 a0002c0049 a0007c0057	a0001c0050t0014 a0002c0049t0001 a0007c0057t0002 a0001c0050t0014 a0002c0049t0001 a0007c0057t0002	a0001c0050t0014g0077 a0002c0049t0001g0072 a0007c0057t0002g0023 a0001c0050t0014g0077 a0002c0049t0001g0072 a0007c0057t0002g0023	3	80	0.0375	c.217 others(4): Show c.2175C>T	p.Ile others(6): Show p.Ile725Ile	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	12/29	3102/6240	2175/4863	725/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29251176	G G	A A	synonymous_variant synonymous_variant	LOW	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0001 a0001c0051t0001	a0001c0051t0001g0019 a0001c0051t0001g0019	1	80	0.0125	c.213 others(4): Show c.2133C>T	p.Ser others(6): Show p.Ser711Ser	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	12/29	3060/6240	2133/4863	711/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29296986	G G	A A	synonymous_variant synonymous_variant	LOW	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0001 a0001c0058t0001	a0001c0058t0001g0024 a0001c0058t0001g0024	1	80	0.0125	c.171 others(4): Show c.1719C>T	p.Thr others(6): Show p.Thr573Thr	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	9/29	2646/6240	1719/4863	573/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29320797	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(39): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02572.hp1 HG02572.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 NA18906.hp1 NA18969.hp1 NA18969.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0006 a0001c0016 a0001c0020 others(26): Show a0001c0006 a0001c0016 a0001c0020 a0001c0022 a0001c0025 a0001c0027 a0001c0033 a0001c0035 a0001c0037 a0001c0053 a0001c0058 a0002c0001 a0002c0007 a0002c0011 a0002c0036 a0002c0052 a0002c0055 a0002c0056 a0003c0003 a0003c0010 a0003c0012 a0003c0015 a0003c0026 a0003c0034 a0003c0054 a0005c0013 a0005c0021 a0006c0029 a0007c0057	a0001c0006t0001 a0001c0006t0007 a0001c0016t0007 others(27): Show a0001c0006t0001 a0001c0006t0007 a0001c0016t0007 a0001c0020t0005 a0001c0022t0001 a0001c0025t0011 a0001c0027t0001 a0001c0033t0001 a0001c0035t0001 a0001c0037t0005 a0001c0053t0001 a0001c0058t0001 a0002c0001t0001 a0002c0007t0001 a0002c0011t0001 a0002c0036t0015 a0002c0052t0001 a0002c0055t0001 a0002c0056t0001 a0003c0003t0002 a0003c0010t0006 a0003c0012t0002 a0003c0015t0002 a0003c0026t0002 a0003c0034t0002 a0003c0054t0002 a0005c0013t0004 a0005c0021t0004 a0006c0029t0001 a0007c0057t0002	a0001c0006t0001g0026 a0001c0006t0001g0036 a0001c0006t0007g0056 others(39): Show a0001c0006t0001g0026 a0001c0006t0001g0036 a0001c0006t0007g0056 a0001c0016t0007g0004 a0001c0020t0005g0005 a0001c0022t0001g0007 a0001c0025t0011g0074 a0001c0027t0001g0013 a0001c0033t0001g0029 a0001c0035t0001g0068 a0001c0037t0005g0028 a0001c0053t0001g0070 a0001c0058t0001g0024 a0002c0001t0001g0027 a0002c0001t0001g0033 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0007t0001g0064 a0002c0007t0001g0066 a0002c0011t0001g0042 a0002c0011t0001g0051 a0002c0036t0015g0080 a0002c0052t0001g0017 a0002c0055t0001g0031 a0002c0056t0001g0040 a0003c0003t0002g0038 a0003c0003t0002g0059 a0003c0003t0002g0065 a0003c0010t0006g0001 a0003c0010t0006g0002 a0003c0012t0002g0034 a0003c0012t0002g0067 a0003c0015t0002g0010 a0003c0026t0002g0015 a0003c0034t0002g0071 a0003c0054t0002g0069 a0005c0013t0004g0020 a0005c0013t0004g0050 a0005c0021t0004g0006 a0006c0029t0001g0016 a0007c0057t0002g0023	42	80	0.5250	c.150 others(4): Show c.1500A>G	p.Gln others(6): Show p.Gln500Gln	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	7/29	2427/6240	1500/4863	500/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29320833	G G	A A	synonymous_variant synonymous_variant	LOW	HG01433.hp2 HG01433.hp2	a0006 a0006	a0006c0029 a0006c0029	a0006c0029t0001 a0006c0029t0001	a0006c0029t0001g0016 a0006c0029t0001g0016	1	80	0.0125	c.146 others(4): Show c.1464C>T	p.Gly others(6): Show p.Gly488Gly	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	7/29	2391/6240	1464/4863	488/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29717663	A A	T T	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(20): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00738.hp1 HG01106.hp2 HG01109.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02738.hp1 HG03139.hp2 HG03453.hp2 HG03540.hp1 NA18906.hp1 NA18969.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0016 a0001c0027 a0001c0033 others(13): Show a0001c0016 a0001c0027 a0001c0033 a0001c0035 a0001c0037 a0002c0001 a0002c0007 a0002c0014 a0002c0030 a0002c0036 a0003c0003 a0003c0015 a0003c0026 a0003c0031 a0003c0034 a0004c0032	a0001c0016t0007 a0001c0027t0001 a0001c0033t0001 others(13): Show a0001c0016t0007 a0001c0027t0001 a0001c0033t0001 a0001c0035t0001 a0001c0037t0005 a0002c0001t0001 a0002c0007t0001 a0002c0014t0001 a0002c0030t0001 a0002c0036t0015 a0003c0003t0002 a0003c0015t0002 a0003c0026t0002 a0003c0031t0002 a0003c0034t0002 a0004c0032t0003	a0001c0016t0007g0004 a0001c0027t0001g0013 a0001c0033t0001g0029 others(20): Show a0001c0016t0007g0004 a0001c0027t0001g0013 a0001c0033t0001g0029 a0001c0035t0001g0068 a0001c0037t0005g0028 a0002c0001t0001g0027 a0002c0001t0001g0033 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0007t0001g0064 a0002c0007t0001g0066 a0002c0014t0001g0009 a0002c0030t0001g0060 a0002c0036t0015g0080 a0003c0003t0002g0038 a0003c0003t0002g0059 a0003c0003t0002g0065 a0003c0015t0002g0010 a0003c0026t0002g0015 a0003c0031t0002g0030 a0003c0034t0002g0071 a0004c0032t0003g0052	23	80	0.2875	c.702 others(3): Show c.702T>A	p.Pro others(6): Show p.Pro234Pro	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	2/29	1629/6240	702/4863	234/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29920015	A A	G G	synonymous_variant synonymous_variant	LOW	HG01433.hp2 HG01884.hp2 HG01891.hp2 others(1): Show HG01433.hp2 HG01884.hp2 HG01891.hp2 HG03139.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0027 a0002c0028 a0003c0026 others(1): Show a0001c0027 a0002c0028 a0003c0026 a0006c0029	a0001c0027t0001 a0002c0028t0001 a0003c0026t0002 others(1): Show a0001c0027t0001 a0002c0028t0001 a0003c0026t0002 a0006c0029t0001	a0001c0027t0001g0013 a0002c0028t0001g0014 a0003c0026t0002g0015 others(1): Show a0001c0027t0001g0013 a0002c0028t0001g0014 a0003c0026t0002g0015 a0006c0029t0001g0016	4	80	0.0500	c.645 others(3): Show c.645T>C	p.Leu others(6): Show p.Leu215Leu	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/29	1572/6240	645/4863	215/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29920393	G G	T T	synonymous_variant synonymous_variant	LOW	HG02055.hp2 HG02451.hp2 HG03139.hp1 HG02055.hp2 HG02451.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0023 a0001c0025 a0003c0024 a0001c0023 a0001c0025 a0003c0024	a0001c0023t0010 a0001c0025t0011 a0003c0024t0009 a0001c0023t0010 a0001c0025t0011 a0003c0024t0009	a0001c0023t0010g0076 a0001c0025t0011g0074 a0003c0024t0009g0075 a0001c0023t0010g0076 a0001c0025t0011g0074 a0003c0024t0009g0075	3	80	0.0375	c.267 others(3): Show c.267C>A	p.Gly others(5): Show p.Gly89Gly	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/29	1194/6240	267/4863	89/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29920633	G G	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00323.hp2 HG00738.hp1 others(68): Show HG00140.hp1 HG00323.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA18969.hp1 NA18969.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0004 a0001c0006 a0001c0009 others(46): Show a0001c0004 a0001c0006 a0001c0009 a0001c0023 a0001c0025 a0001c0027 a0001c0033 a0001c0035 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0048 a0001c0050 a0001c0051 a0001c0053 a0001c0058 a0002c0001 a0002c0007 a0002c0008 a0002c0011 a0002c0028 a0002c0030 a0002c0036 a0002c0047 a0002c0049 a0002c0052 a0002c0055 a0002c0056 a0003c0003 a0003c0005 a0003c0010 a0003c0012 a0003c0024 a0003c0026 a0003c0031 a0003c0034 a0003c0041 a0003c0043 a0003c0054 a0004c0002 a0004c0032 a0004c0042 a0004c0045 a0005c0013 a0005c0046 a0006c0029 a0007c0057 a0008c0044	a0001c0004t0001 a0001c0004t0008 a0001c0006t0001 others(48): Show a0001c0004t0001 a0001c0004t0008 a0001c0006t0001 a0001c0006t0007 a0001c0009t0005 a0001c0023t0010 a0001c0025t0011 a0001c0027t0001 a0001c0033t0001 a0001c0035t0001 a0001c0037t0005 a0001c0038t0001 a0001c0039t0013 a0001c0040t0001 a0001c0048t0001 a0001c0050t0014 a0001c0051t0001 a0001c0053t0001 a0001c0058t0001 a0002c0001t0001 a0002c0007t0001 a0002c0008t0001 a0002c0011t0001 a0002c0028t0001 a0002c0030t0001 a0002c0036t0015 a0002c0047t0001 a0002c0049t0001 a0002c0052t0001 a0002c0055t0001 a0002c0056t0001 a0003c0003t0002 a0003c0005t0002 a0003c0010t0006 a0003c0012t0002 a0003c0024t0009 a0003c0026t0002 a0003c0031t0002 a0003c0034t0002 a0003c0041t0002 a0003c0043t0002 a0003c0054t0002 a0004c0002t0003 a0004c0032t0003 a0004c0042t0003 a0004c0045t0002 a0005c0013t0004 a0005c0046t0004 a0006c0029t0001 a0007c0057t0002 a0008c0044t0012	a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 others(68): Show a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 a0001c0006t0001g0026 a0001c0006t0001g0036 a0001c0006t0007g0056 a0001c0009t0005g0018 a0001c0009t0005g0054 a0001c0023t0010g0076 a0001c0025t0011g0074 a0001c0027t0001g0013 a0001c0033t0001g0029 a0001c0035t0001g0068 a0001c0037t0005g0028 a0001c0038t0001g0035 a0001c0039t0013g0079 a0001c0040t0001g0022 a0001c0048t0001g0047 a0001c0050t0014g0077 a0001c0051t0001g0019 a0001c0053t0001g0070 a0001c0058t0001g0024 a0002c0001t0001g0027 a0002c0001t0001g0033 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0007t0001g0064 a0002c0007t0001g0066 a0002c0008t0001g0045 a0002c0008t0001g0049 a0002c0011t0001g0042 a0002c0011t0001g0051 a0002c0028t0001g0014 a0002c0030t0001g0060 a0002c0036t0015g0080 a0002c0047t0001g0055 a0002c0049t0001g0072 a0002c0052t0001g0017 a0002c0055t0001g0031 a0002c0056t0001g0040 a0003c0003t0002g0038 a0003c0003t0002g0059 a0003c0003t0002g0065 a0003c0005t0002g0032 a0003c0005t0002g0046 a0003c0005t0002g0048 a0003c0010t0006g0001 a0003c0010t0006g0002 a0003c0012t0002g0034 a0003c0012t0002g0067 a0003c0024t0009g0075 a0003c0026t0002g0015 a0003c0031t0002g0030 a0003c0034t0002g0071 a0003c0041t0002g0044 a0003c0043t0002g0039 a0003c0054t0002g0069 a0004c0002t0003g0025 a0004c0002t0003g0041 a0004c0002t0003g0057 a0004c0002t0003g0058 a0004c0032t0003g0052 a0004c0042t0003g0073 a0004c0045t0002g0043 a0005c0013t0004g0020 a0005c0013t0004g0050 a0005c0046t0004g0053 a0006c0029t0001g0016 a0007c0057t0002g0023 a0008c0044t0012g0078	71	80	0.8875	c.27C others(2): Show c.27C>G	p.Leu others(4): Show p.Leu9Leu	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/29	954/6240	27/4863	9/1620	chr2	TogoVar
ALLC_chr2_3653200_3707671	3678500	T T	C C	synonymous_variant synonymous_variant	LOW	HG02647.hp1 HG02818.hp1 HG02886.hp1 others(4): Show HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG03540.hp1 NA18522.hp2 NA19043.hp2	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0001 a0002c0005t0002 a0002c0009t0002 a0002c0005t0001 a0002c0005t0002 a0002c0009t0002	a0002c0005t0001g0206 a0002c0005t0001g0207 a0002c0005t0001g0208 others(4): Show a0002c0005t0001g0206 a0002c0005t0001g0207 a0002c0005t0001g0208 a0002c0005t0001g0215 a0002c0005t0002g0022 a0002c0005t0002g0047 a0002c0009t0002g0023	7	272	0.0257	c.117 others(3): Show c.117T>C	p.Tyr others(5): Show p.Tyr39Tyr	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	4/12	274/1441	117/1176	39/391	chr2	TogoVar
ALLC_chr2_3653200_3707671	3678503	G G	A A	synonymous_variant synonymous_variant	LOW	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0004 a0003c0010t0004	a0003c0010t0004g0228 a0003c0010t0004g0228	1	272	0.0037	c.120 others(3): Show c.120G>A	p.Thr others(5): Show p.Thr40Thr	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	4/12	277/1441	120/1176	40/391	chr2	TogoVar
ALLC_chr2_3653200_3707671	3697386	A A	G G	synonymous_variant synonymous_variant	LOW	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0059 a0002c0015t0002g0059	1	272	0.0037	c.780 others(3): Show c.780A>G	p.Glu others(6): Show p.Glu260Glu	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	10/12	937/1441	780/1176	260/391	chr2	TogoVar
ALLC_chr2_3653200_3707671	3701543	G G	A A	synonymous_variant synonymous_variant	LOW	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0023 a0002c0009t0002g0023	1	272	0.0037	c.882 others(3): Show c.882G>A	p.Gly others(6): Show p.Gly294Gly	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	11/12	1039/1441	882/1176	294/391	chr2	TogoVar
ALLC_chr2_3653200_3707671	3702521	G G	A A	synonymous_variant synonymous_variant	LOW	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0031 a0002c0013t0002g0031	1	272	0.0037	c.113 others(4): Show c.1134G>A	p.Lys others(6): Show p.Lys378Lys	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	12/12	1291/1441	1134/1176	378/391	chr2	TogoVar
ALLC_chr2_3653200_3707671	3702539	G G	C C	synonymous_variant synonymous_variant	LOW	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0216 a0001c0012t0002g0216	1	272	0.0037	c.115 others(4): Show c.1152G>C	p.Ser others(6): Show p.Ser384Ser	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	12/12	1309/1441	1152/1176	384/391	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73448426	A A	G G	synonymous_variant synonymous_variant	LOW	HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show HG01361.hp1 HG02615.hp2 HG02970.hp2 HG03098.hp2 NA19030.hp1	a0001 a0008 a0001 a0008	a0001c0012 a0008c0065 a0001c0012 a0008c0065	a0001c0012t0001 a0008c0065t0001 a0001c0012t0001 a0008c0065t0001	a0001c0012t0001g0202 a0001c0012t0001g0203 a0001c0012t0001g0204 others(2): Show a0001c0012t0001g0202 a0001c0012t0001g0203 a0001c0012t0001g0204 a0001c0012t0001g0209 a0008c0065t0001g0205	5	246	0.0203	c.189 others(4): Show c.1899A>G	p.Gln others(6): Show p.Gln633Gln	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	1932/12844	1899/12507	633/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73448717	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(89): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19058.hp2 NA19074.hp1 NA19079.hp2 NA19089.hp2 NA20752.hp2 NA20905.hp1	a0002 a0004 a0005 others(6): Show a0002 a0004 a0005 a0006 a0009 a0011 a0017 a0021 a0022	a0002c0001 a0002c0015 a0002c0066 others(18): Show a0002c0001 a0002c0015 a0002c0066 a0002c0067 a0002c0068 a0002c0069 a0002c0070 a0002c0071 a0002c0072 a0002c0073 a0004c0007 a0004c0010 a0004c0057 a0005c0027 a0006c0006 a0006c0074 a0009c0014 a0011c0016 a0017c0059 a0021c0034 a0022c0076	a0002c0001t0001 a0002c0001t0004 a0002c0015t0001 others(20): Show a0002c0001t0001 a0002c0001t0004 a0002c0015t0001 a0002c0066t0001 a0002c0067t0001 a0002c0068t0001 a0002c0069t0001 a0002c0070t0001 a0002c0071t0001 a0002c0072t0001 a0002c0073t0001 a0004c0007t0001 a0004c0010t0001 a0004c0057t0001 a0005c0027t0001 a0006c0006t0001 a0006c0074t0001 a0009c0014t0001 a0011c0016t0001 a0011c0016t0005 a0017c0059t0001 a0021c0034t0001 a0022c0076t0001	a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0095 others(89): Show a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0095 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0130 a0002c0001t0001g0133 a0002c0001t0001g0134 a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0139 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0165 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0173 a0002c0001t0001g0176 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0182 a0002c0001t0001g0186 a0002c0001t0001g0192 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0216 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0248 a0002c0001t0004g0152 a0002c0015t0001g0181 a0002c0015t0001g0190 a0002c0066t0001g0132 a0002c0067t0001g0223 a0002c0068t0001g0128 a0002c0069t0001g0167 a0002c0070t0001g0137 a0002c0071t0001g0138 a0002c0072t0001g0177 a0002c0073t0001g0123 a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 a0004c0007t0001g0101 a0004c0007t0001g0102 a0004c0007t0001g0228 a0004c0007t0001g0229 a0004c0010t0001g0097 a0004c0010t0001g0100 a0004c0010t0001g0103 a0004c0010t0001g0104 a0004c0057t0001g0105 a0005c0027t0001g0007 a0005c0027t0001g0166 a0006c0006t0001g0122 a0006c0006t0001g0127 a0006c0006t0001g0131 a0006c0006t0001g0140 a0006c0006t0001g0146 a0006c0006t0001g0151 a0006c0006t0001g0158 a0006c0006t0001g0161 a0006c0006t0001g0168 a0006c0006t0001g0172 a0006c0006t0001g0211 a0006c0074t0001g0145 a0009c0014t0001g0129 a0009c0014t0001g0157 a0009c0014t0001g0169 a0009c0014t0001g0180 a0011c0016t0001g0220 a0011c0016t0001g0221 a0011c0016t0005g0222 a0017c0059t0001g0156 a0021c0034t0001g0025 a0022c0076t0001g0003	92	246	0.3740	c.219 others(4): Show c.2190C>T	p.Phe others(6): Show p.Phe730Phe	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	2223/12844	2190/12507	730/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73448846	G G	A A	synonymous_variant synonymous_variant	LOW	HG01099.hp2 HG02145.hp1 HG02630.hp1 others(4): Show HG01099.hp2 HG02145.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 others(4): Show a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 a0004c0007t0001g0101 a0004c0007t0001g0102 a0004c0007t0001g0228 a0004c0007t0001g0229	7	246	0.0285	c.231 others(4): Show c.2319G>A	p.Leu others(6): Show p.Leu773Leu	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	2352/12844	2319/12507	773/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73449062	C C	T T	synonymous_variant synonymous_variant	LOW	HG01361.hp1 HG02615.hp2 HG02647.hp1 others(10): Show HG01361.hp1 HG02615.hp2 HG02647.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2	a0001 a0008 a0001 a0008	a0001c0012 a0001c0022 a0001c0023 others(4): Show a0001c0012 a0001c0022 a0001c0023 a0001c0024 a0001c0054 a0001c0055 a0008c0065	a0001c0012t0001 a0001c0022t0001 a0001c0023t0001 others(4): Show a0001c0012t0001 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0054t0001 a0001c0055t0001 a0008c0065t0001	a0001c0012t0001g0202 a0001c0012t0001g0203 a0001c0012t0001g0204 others(10): Show a0001c0012t0001g0202 a0001c0012t0001g0203 a0001c0012t0001g0204 a0001c0012t0001g0209 a0001c0022t0001g0200 a0001c0022t0001g0201 a0001c0023t0001g0196 a0001c0023t0001g0198 a0001c0024t0001g0195 a0001c0024t0001g0199 a0001c0054t0001g0193 a0001c0055t0001g0194 a0008c0065t0001g0205	13	246	0.0528	c.253 others(4): Show c.2535C>T	p.Asp others(6): Show p.Asp845Asp	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	2568/12844	2535/12507	845/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73449188	A A	G G	synonymous_variant synonymous_variant	LOW	HG02970.hp1 HG03195.hp1 HG03453.hp1 others(1): Show HG02970.hp1 HG03195.hp1 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0023 a0001c0024 a0001c0023 a0001c0024	a0001c0023t0001 a0001c0024t0001 a0001c0023t0001 a0001c0024t0001	a0001c0023t0001g0196 a0001c0023t0001g0198 a0001c0024t0001g0195 others(1): Show a0001c0023t0001g0196 a0001c0023t0001g0198 a0001c0024t0001g0195 a0001c0024t0001g0199	4	246	0.0163	c.266 others(4): Show c.2661A>G	p.Val others(6): Show p.Val887Val	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	2694/12844	2661/12507	887/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73449257	C C	T T	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG02818.hp1 HG02647.hp2 HG02818.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0242 a0001c0026t0001g0244 a0001c0026t0001g0242 a0001c0026t0001g0244	2	246	0.0081	c.273 others(4): Show c.2730C>T	p.His others(6): Show p.His910His	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	2763/12844	2730/12507	910/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73449291	C C	T T	synonymous_variant synonymous_variant	LOW	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0002 a0001c0053t0002	a0001c0053t0002g0051 a0001c0053t0002g0051	1	246	0.0041	c.276 others(4): Show c.2764C>T	p.Leu others(6): Show p.Leu922Leu	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	2797/12844	2764/12507	922/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73450421	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(10): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00738.hp1 HG01243.hp2 HG01261.hp2 HG01975.hp1 HG02055.hp2 HG02683.hp2 HG02717.hp2 HG03516.hp2 HG03540.hp1 NA19030.hp2	a0001 a0008 a0010 others(1): Show a0001 a0008 a0010 a0019	a0001c0011 a0001c0018 a0001c0038 others(5): Show a0001c0011 a0001c0018 a0001c0038 a0001c0052 a0008c0064 a0010c0017 a0010c0030 a0019c0031	a0001c0011t0001 a0001c0018t0001 a0001c0038t0001 others(5): Show a0001c0011t0001 a0001c0018t0001 a0001c0038t0001 a0001c0052t0001 a0008c0064t0001 a0010c0017t0003 a0010c0030t0001 a0019c0031t0001	a0001c0011t0001g0004 a0001c0011t0001g0006 a0001c0011t0001g0045 others(10): Show a0001c0011t0001g0004 a0001c0011t0001g0006 a0001c0011t0001g0045 a0001c0011t0001g0046 a0001c0018t0001g0055 a0001c0018t0001g0057 a0001c0038t0001g0056 a0001c0052t0001g0044 a0008c0064t0001g0050 a0010c0017t0003g0224 a0010c0017t0003g0225 a0010c0030t0001g0227 a0019c0031t0001g0226	13	246	0.0528	c.389 others(4): Show c.3894A>G	p.Gln others(7): Show p.Gln1298Gln	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	3927/12844	3894/12507	1298/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73450661	T T	C C	synonymous_variant synonymous_variant	LOW	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0001 a0001c0039t0001	a0001c0039t0001g0037 a0001c0039t0001g0037	1	246	0.0041	c.413 others(4): Show c.4134T>C	p.Ser others(7): Show p.Ser1378Ser	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	4167/12844	4134/12507	1378/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73450706	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(114): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA18966.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19079.hp1 NA19081.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0008 a0010 a0013 a0016 a0019	a0001c0003 a0001c0004 a0001c0011 others(41): Show a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0001c0013 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0004c0007 a0004c0010 a0004c0057 a0005c0005 a0005c0058 a0008c0063 a0008c0064 a0008c0065 a0010c0017 a0010c0030 a0013c0044 a0013c0045 a0016c0046 a0019c0031	a0001c0003t0002 a0001c0004t0001 a0001c0011t0001 others(41): Show a0001c0003t0002 a0001c0004t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0018t0001 a0001c0019t0002 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0001c0041t0001 a0001c0042t0002 a0001c0043t0002 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0051t0001 a0001c0052t0001 a0001c0053t0002 a0001c0054t0001 a0001c0055t0001 a0001c0056t0002 a0004c0007t0001 a0004c0010t0001 a0004c0057t0001 a0005c0005t0001 a0005c0058t0001 a0008c0063t0001 a0008c0064t0001 a0008c0065t0001 a0010c0017t0003 a0010c0030t0001 a0013c0044t0002 a0013c0045t0002 a0016c0046t0001 a0019c0031t0001	a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(114): Show a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0088 a0001c0003t0002g0091 a0001c0004t0001g0005 a0001c0004t0001g0031 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0038 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0043 a0001c0004t0001g0049 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0239 a0001c0004t0001g0247 a0001c0011t0001g0004 a0001c0011t0001g0006 a0001c0011t0001g0045 a0001c0011t0001g0046 a0001c0012t0001g0202 a0001c0012t0001g0203 a0001c0012t0001g0204 a0001c0012t0001g0209 a0001c0013t0001g0240 a0001c0013t0001g0241 a0001c0013t0001g0243 a0001c0013t0001g0245 a0001c0018t0001g0055 a0001c0018t0001g0057 a0001c0019t0002g0065 a0001c0019t0002g0090 a0001c0020t0001g0206 a0001c0020t0001g0208 a0001c0021t0001g0034 a0001c0021t0001g0035 a0001c0022t0001g0200 a0001c0022t0001g0201 a0001c0023t0001g0196 a0001c0023t0001g0198 a0001c0024t0001g0195 a0001c0024t0001g0199 a0001c0025t0001g0048 a0001c0025t0001g0054 a0001c0026t0001g0242 a0001c0026t0001g0244 a0001c0038t0001g0056 a0001c0039t0001g0037 a0001c0040t0001g0207 a0001c0041t0001g0094 a0001c0042t0002g0089 a0001c0043t0002g0072 a0001c0047t0001g0047 a0001c0048t0001g0197 a0001c0049t0001g0042 a0001c0050t0001g0246 a0001c0051t0001g0210 a0001c0052t0001g0044 a0001c0053t0002g0051 a0001c0054t0001g0193 a0001c0055t0001g0194 a0001c0056t0002g0087 a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 a0004c0007t0001g0101 a0004c0007t0001g0102 a0004c0007t0001g0228 a0004c0007t0001g0229 a0004c0010t0001g0097 a0004c0010t0001g0100 a0004c0010t0001g0103 a0004c0010t0001g0104 a0004c0057t0001g0105 a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110 a0008c0063t0001g0191 a0008c0064t0001g0050 a0008c0065t0001g0205 a0010c0017t0003g0224 a0010c0017t0003g0225 a0010c0030t0001g0227 a0013c0044t0002g0069 a0013c0045t0002g0062 a0016c0046t0001g0230 a0019c0031t0001g0226	117	246	0.4756	c.417 others(4): Show c.4179A>G	p.Gln others(7): Show p.Gln1393Gln	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	4212/12844	4179/12507	1393/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73450757	G G	A A	synonymous_variant synonymous_variant	LOW	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0207 a0001c0040t0001g0207	1	246	0.0041	c.423 others(4): Show c.4230G>A	p.Ala others(7): Show p.Ala1410Ala	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	4263/12844	4230/12507	1410/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73451132	A A	G G	synonymous_variant synonymous_variant	LOW	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0002 a0001c0053t0002	a0001c0053t0002g0051 a0001c0053t0002g0051	1	246	0.0041	c.460 others(4): Show c.4605A>G	p.Gln others(7): Show p.Gln1535Gln	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	4638/12844	4605/12507	1535/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73451696	A A	G G	synonymous_variant synonymous_variant	LOW	HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show HG00735.hp1 HG02451.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2	a0004 a0018 a0004 a0018	a0004c0008 a0004c0032 a0018c0033 a0004c0008 a0004c0032 a0018c0033	a0004c0008t0001 a0004c0032t0001 a0018c0033t0001 a0004c0008t0001 a0004c0032t0001 a0018c0033t0001	a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 others(5): Show a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 a0004c0008t0001g0234 a0004c0008t0001g0235 a0004c0008t0001g0237 a0004c0032t0001g0236 a0018c0033t0001g0238	8	246	0.0325	c.516 others(4): Show c.5169A>G	p.Gln others(7): Show p.Gln1723Gln	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	5202/12844	5169/12507	1723/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73451990	G G	A A	synonymous_variant synonymous_variant	LOW	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0094 a0001c0041t0001g0094	1	246	0.0041	c.546 others(4): Show c.5463G>A	p.Pro others(7): Show p.Pro1821Pro	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	5496/12844	5463/12507	1821/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73452509	G G	A A	synonymous_variant synonymous_variant	LOW	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0066 a0002c0066	a0002c0066t0001 a0002c0066t0001	a0002c0066t0001g0132 a0002c0066t0001g0132	1	246	0.0041	c.598 others(4): Show c.5982G>A	p.Glu others(7): Show p.Glu1994Glu	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	6015/12844	5982/12507	1994/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73453022	T T	C C	synonymous_variant synonymous_variant	LOW	NA19030.hp2 NA19030.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0227 a0010c0030t0001g0227	1	246	0.0041	c.649 others(4): Show c.6495T>C	p.Ala others(7): Show p.Ala2165Ala	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	6528/12844	6495/12507	2165/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73489861	C C	T T	synonymous_variant synonymous_variant	LOW	NA19030.hp1 NA19030.hp1	a0008 a0008	a0008c0065 a0008c0065	a0008c0065t0001 a0008c0065t0001	a0008c0065t0001g0205 a0008c0065t0001g0205	1	246	0.0041	c.790 others(4): Show c.7902C>T	p.Asp others(7): Show p.Asp2634Asp	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/23	7935/12844	7902/12507	2634/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73490701	A A	G G	synonymous_variant synonymous_variant	LOW	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0002 a0001c0053t0002	a0001c0053t0002g0051 a0001c0053t0002g0051	1	246	0.0041	c.874 others(4): Show c.8742A>G	p.Val others(7): Show p.Val2914Val	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/23	8775/12844	8742/12507	2914/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73490878	G G	A A	synonymous_variant synonymous_variant	LOW	NA18950.hp2 NA18971.hp2 NA18950.hp2 NA18971.hp2	a0014 a0014	a0014c0028 a0014c0028	a0014c0028t0001 a0014c0028t0001	a0014c0028t0001g0009 a0014c0028t0001g0010 a0014c0028t0001g0009 a0014c0028t0001g0010	2	246	0.0081	c.891 others(4): Show c.8919G>A	p.Ala others(7): Show p.Ala2973Ala	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/23	8952/12844	8919/12507	2973/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73519796	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0008 a0013 others(1): Show a0001 a0008 a0013 a0016	a0001c0003 a0001c0004 a0001c0011 others(30): Show a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0001c0013 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0038 a0001c0039 a0001c0041 a0001c0042 a0001c0043 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0008c0063 a0008c0064 a0008c0065 a0013c0044 a0013c0045 a0016c0046	a0001c0003t0002 a0001c0004t0001 a0001c0011t0001 others(30): Show a0001c0003t0002 a0001c0004t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0018t0001 a0001c0019t0002 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0038t0001 a0001c0039t0001 a0001c0041t0001 a0001c0042t0002 a0001c0043t0002 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0052t0001 a0001c0053t0002 a0001c0054t0001 a0001c0055t0001 a0001c0056t0002 a0008c0063t0001 a0008c0064t0001 a0008c0065t0001 a0013c0044t0002 a0013c0045t0002 a0016c0046t0001	a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(81): Show a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0088 a0001c0003t0002g0091 a0001c0004t0001g0005 a0001c0004t0001g0031 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0038 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0043 a0001c0004t0001g0049 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0239 a0001c0004t0001g0247 a0001c0011t0001g0004 a0001c0011t0001g0006 a0001c0011t0001g0045 a0001c0011t0001g0046 a0001c0012t0001g0202 a0001c0012t0001g0203 a0001c0012t0001g0204 a0001c0012t0001g0209 a0001c0013t0001g0240 a0001c0013t0001g0241 a0001c0013t0001g0243 a0001c0013t0001g0245 a0001c0018t0001g0055 a0001c0018t0001g0057 a0001c0019t0002g0065 a0001c0019t0002g0090 a0001c0021t0001g0034 a0001c0021t0001g0035 a0001c0022t0001g0200 a0001c0022t0001g0201 a0001c0023t0001g0196 a0001c0023t0001g0198 a0001c0024t0001g0195 a0001c0024t0001g0199 a0001c0025t0001g0048 a0001c0025t0001g0054 a0001c0026t0001g0242 a0001c0026t0001g0244 a0001c0038t0001g0056 a0001c0039t0001g0037 a0001c0041t0001g0094 a0001c0042t0002g0089 a0001c0043t0002g0072 a0001c0047t0001g0047 a0001c0048t0001g0197 a0001c0049t0001g0042 a0001c0050t0001g0246 a0001c0052t0001g0044 a0001c0053t0002g0051 a0001c0054t0001g0193 a0001c0055t0001g0194 a0001c0056t0002g0087 a0008c0063t0001g0191 a0008c0064t0001g0050 a0008c0065t0001g0205 a0013c0044t0002g0069 a0013c0045t0002g0062 a0016c0046t0001g0230	84	246	0.3415	c.956 others(4): Show c.9561C>T	p.Thr others(7): Show p.Thr3187Thr	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	11/23	9594/12844	9561/12507	3187/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73519943	G G	A A	synonymous_variant synonymous_variant	LOW	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0037 a0003c0037	a0003c0037t0001 a0003c0037t0001	a0003c0037t0001g0032 a0003c0037t0001g0032	1	246	0.0041	c.970 others(4): Show c.9708G>A	p.Lys others(7): Show p.Lys3236Lys	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	11/23	9741/12844	9708/12507	3236/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73520012	A A	C C	synonymous_variant synonymous_variant	LOW	HG01261.hp1 HG01261.hp1	a0017 a0017	a0017c0059 a0017c0059	a0017c0059t0001 a0017c0059t0001	a0017c0059t0001g0156 a0017c0059t0001g0156	1	246	0.0041	c.977 others(4): Show c.9777A>C	p.Thr others(7): Show p.Thr3259Thr	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	11/23	9810/12844	9777/12507	3259/4168	chr2	TogoVar

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