Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
ALMS1_chr2_73380836_73614916	73490440	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp1 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 HG02451.hp2 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.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 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	a0002 a0004 a0005 others(28): Show a0002 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0014 a0017 a0018 a0019 a0020 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0044 a0045 a0046	a0002c0004 a0002c0011 a0002c0020 others(44): Show a0002c0004 a0002c0011 a0002c0020 a0002c0023 a0002c0040 a0002c0041 a0002c0047 a0002c0052 a0002c0054 a0004c0003 a0004c0043 a0004c0053 a0005c0005 a0005c0058 a0006c0007 a0006c0010 a0008c0008 a0009c0013 a0009c0026 a0011c0022 a0011c0024 a0011c0048 a0012c0012 a0014c0021 a0014c0039 a0017c0017 a0018c0025 a0019c0018 a0020c0019 a0024c0030 a0025c0031 a0026c0057 a0027c0032 a0028c0033 a0029c0056 a0030c0038 a0031c0042 a0032c0046 a0033c0055 a0034c0049 a0035c0050 a0036c0045 a0037c0044 a0038c0051 a0044c0064 a0045c0063 a0046c0065	a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 others(44): Show a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 a0002c0023t0001 a0002c0040t0001 a0002c0041t0001 a0002c0047t0001 a0002c0052t0001 a0002c0054t0001 a0004c0003t0002 a0004c0043t0002 a0004c0053t0002 a0005c0005t0001 a0005c0058t0001 a0006c0007t0001 a0006c0010t0001 a0008c0008t0001 a0009c0013t0001 a0009c0026t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001 a0012c0012t0001 a0014c0021t0001 a0014c0039t0001 a0017c0017t0003 a0018c0025t0001 a0019c0018t0001 a0020c0019t0002 a0024c0030t0001 a0025c0031t0001 a0026c0057t0001 a0027c0032t0001 a0028c0033t0001 a0029c0056t0002 a0030c0038t0001 a0031c0042t0002 a0032c0046t0001 a0033c0055t0001 a0034c0049t0001 a0035c0050t0001 a0036c0045t0002 a0037c0044t0002 a0038c0051t0001 a0044c0064t0001 a0045c0063t0001 a0046c0065t0001	a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 others(122): Show a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0046 a0002c0004t0001g0048 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0239 a0002c0004t0001g0247 a0002c0011t0001g0004 a0002c0011t0001g0006 a0002c0011t0001g0041 a0002c0011t0001g0042 a0002c0020t0001g0207 a0002c0020t0001g0208 a0002c0023t0001g0195 a0002c0023t0001g0196 a0002c0040t0001g0206 a0002c0041t0001g0094 a0002c0047t0001g0047 a0002c0052t0001g0040 a0002c0054t0001g0193 a0004c0003t0002g0064 a0004c0003t0002g0065 a0004c0003t0002g0066 a0004c0003t0002g0067 a0004c0003t0002g0068 a0004c0003t0002g0069 a0004c0003t0002g0070 a0004c0003t0002g0071 a0004c0003t0002g0072 a0004c0003t0002g0073 a0004c0003t0002g0074 a0004c0003t0002g0076 a0004c0003t0002g0077 a0004c0003t0002g0078 a0004c0003t0002g0080 a0004c0003t0002g0081 a0004c0003t0002g0083 a0004c0003t0002g0084 a0004c0003t0002g0085 a0004c0003t0002g0086 a0004c0003t0002g0088 a0004c0003t0002g0091 a0004c0043t0002g0082 a0004c0053t0002g0050 a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243 a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0024t0001g0198 a0011c0048t0001g0197 a0012c0012t0001g0202 a0012c0012t0001g0203 a0012c0012t0001g0204 a0012c0012t0001g0209 a0014c0021t0001g0043 a0014c0021t0001g0044 a0014c0039t0001g0045 a0017c0017t0003g0224 a0017c0017t0003g0225 a0018c0025t0001g0053 a0018c0025t0001g0054 a0019c0018t0001g0056 a0019c0018t0001g0057 a0020c0019t0002g0075 a0020c0019t0002g0090 a0024c0030t0001g0227 a0025c0031t0001g0226 a0026c0057t0001g0105 a0027c0032t0001g0236 a0028c0033t0001g0238 a0029c0056t0002g0087 a0030c0038t0001g0055 a0031c0042t0002g0089 a0032c0046t0001g0230 a0033c0055t0001g0201 a0034c0049t0001g0039 a0035c0050t0001g0246 a0036c0045t0002g0062 a0037c0044t0002g0079 a0038c0051t0001g0210 a0044c0064t0001g0049 a0045c0063t0001g0191 a0046c0065t0001g0205	125	248	0.5040	c.848 others(4): Show c.8481G>T	p.Arg others(7): Show p.Arg2827Ser	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/23	8514/12844	8481/12507	2827/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73490508	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0047 a0047	a0047c0061 a0047c0061	a0047c0061t0001 a0047c0061t0001	a0047c0061t0001g0183 a0047c0061t0001g0183	1	248	0.0040	c.854 others(4): Show c.8549C>T	p.Pro others(7): Show p.Pro2850Leu	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/23	8582/12844	8549/12507	2850/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73490529	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp1 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 HG02451.hp2 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.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 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	a0002 a0004 a0005 others(28): Show a0002 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0014 a0017 a0018 a0019 a0020 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0044 a0045 a0046	a0002c0004 a0002c0011 a0002c0020 others(44): Show a0002c0004 a0002c0011 a0002c0020 a0002c0023 a0002c0040 a0002c0041 a0002c0047 a0002c0052 a0002c0054 a0004c0003 a0004c0043 a0004c0053 a0005c0005 a0005c0058 a0006c0007 a0006c0010 a0008c0008 a0009c0013 a0009c0026 a0011c0022 a0011c0024 a0011c0048 a0012c0012 a0014c0021 a0014c0039 a0017c0017 a0018c0025 a0019c0018 a0020c0019 a0024c0030 a0025c0031 a0026c0057 a0027c0032 a0028c0033 a0029c0056 a0030c0038 a0031c0042 a0032c0046 a0033c0055 a0034c0049 a0035c0050 a0036c0045 a0037c0044 a0038c0051 a0044c0064 a0045c0063 a0046c0065	a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 others(44): Show a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 a0002c0023t0001 a0002c0040t0001 a0002c0041t0001 a0002c0047t0001 a0002c0052t0001 a0002c0054t0001 a0004c0003t0002 a0004c0043t0002 a0004c0053t0002 a0005c0005t0001 a0005c0058t0001 a0006c0007t0001 a0006c0010t0001 a0008c0008t0001 a0009c0013t0001 a0009c0026t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001 a0012c0012t0001 a0014c0021t0001 a0014c0039t0001 a0017c0017t0003 a0018c0025t0001 a0019c0018t0001 a0020c0019t0002 a0024c0030t0001 a0025c0031t0001 a0026c0057t0001 a0027c0032t0001 a0028c0033t0001 a0029c0056t0002 a0030c0038t0001 a0031c0042t0002 a0032c0046t0001 a0033c0055t0001 a0034c0049t0001 a0035c0050t0001 a0036c0045t0002 a0037c0044t0002 a0038c0051t0001 a0044c0064t0001 a0045c0063t0001 a0046c0065t0001	a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 others(122): Show a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0046 a0002c0004t0001g0048 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0239 a0002c0004t0001g0247 a0002c0011t0001g0004 a0002c0011t0001g0006 a0002c0011t0001g0041 a0002c0011t0001g0042 a0002c0020t0001g0207 a0002c0020t0001g0208 a0002c0023t0001g0195 a0002c0023t0001g0196 a0002c0040t0001g0206 a0002c0041t0001g0094 a0002c0047t0001g0047 a0002c0052t0001g0040 a0002c0054t0001g0193 a0004c0003t0002g0064 a0004c0003t0002g0065 a0004c0003t0002g0066 a0004c0003t0002g0067 a0004c0003t0002g0068 a0004c0003t0002g0069 a0004c0003t0002g0070 a0004c0003t0002g0071 a0004c0003t0002g0072 a0004c0003t0002g0073 a0004c0003t0002g0074 a0004c0003t0002g0076 a0004c0003t0002g0077 a0004c0003t0002g0078 a0004c0003t0002g0080 a0004c0003t0002g0081 a0004c0003t0002g0083 a0004c0003t0002g0084 a0004c0003t0002g0085 a0004c0003t0002g0086 a0004c0003t0002g0088 a0004c0003t0002g0091 a0004c0043t0002g0082 a0004c0053t0002g0050 a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243 a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0024t0001g0198 a0011c0048t0001g0197 a0012c0012t0001g0202 a0012c0012t0001g0203 a0012c0012t0001g0204 a0012c0012t0001g0209 a0014c0021t0001g0043 a0014c0021t0001g0044 a0014c0039t0001g0045 a0017c0017t0003g0224 a0017c0017t0003g0225 a0018c0025t0001g0053 a0018c0025t0001g0054 a0019c0018t0001g0056 a0019c0018t0001g0057 a0020c0019t0002g0075 a0020c0019t0002g0090 a0024c0030t0001g0227 a0025c0031t0001g0226 a0026c0057t0001g0105 a0027c0032t0001g0236 a0028c0033t0001g0238 a0029c0056t0002g0087 a0030c0038t0001g0055 a0031c0042t0002g0089 a0032c0046t0001g0230 a0033c0055t0001g0201 a0034c0049t0001g0039 a0035c0050t0001g0246 a0036c0045t0002g0062 a0037c0044t0002g0079 a0038c0051t0001g0210 a0044c0064t0001g0049 a0045c0063t0001g0191 a0046c0065t0001g0205	125	248	0.5040	c.857 others(4): Show c.8570A>G	p.Asn others(7): Show p.Asn2857Ser	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/23	8603/12844	8570/12507	2857/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73490963	A A	C C	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0028 a0028	a0028c0033 a0028c0033	a0028c0033t0001 a0028c0033t0001	a0028c0033t0001g0238 a0028c0033t0001g0238	1	248	0.0040	c.900 others(4): Show c.9004A>C	p.Lys others(7): Show p.Lys3002Gln	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/23	9037/12844	9004/12507	3002/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73491059	G G	C C	missense_variant missense_variant	MODERATE	NA20905.hp2 NA20905.hp2	a0041 a0041	a0041c0035 a0041c0035	a0041c0035t0001 a0041c0035t0001	a0041c0035t0001g0016 a0041c0035t0001g0016	1	248	0.0040	c.910 others(4): Show c.9100G>C	p.Ala others(7): Show p.Ala3034Pro	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/23	9133/12844	9100/12507	3034/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73519852	C C	T T	missense_variant missense_variant	MODERATE	HG01261.hp1 HG01261.hp1	a0048 a0048	a0048c0059 a0048c0059	a0048c0059t0001 a0048c0059t0001	a0048c0059t0001g0155 a0048c0059t0001g0155	1	248	0.0040	c.961 others(4): Show c.9617C>T	p.Thr others(7): Show p.Thr3206Ile	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	11/23	9650/12844	9617/12507	3206/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73519968	G G	A A	missense_variant missense_variant	MODERATE	NA19081.hp2 NA19081.hp2	a0040 a0040	a0040c0036 a0040c0036	a0040c0036t0001 a0040c0036t0001	a0040c0036t0001g0027 a0040c0036t0001g0027	1	248	0.0040	c.973 others(4): Show c.9733G>A	p.Ala others(7): Show p.Ala3245Thr	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	11/23	9766/12844	9733/12507	3245/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73520002	C C	G G	missense_variant missense_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0036 a0036	a0036c0045 a0036c0045	a0036c0045t0002 a0036c0045t0002	a0036c0045t0002g0062 a0036c0045t0002g0062	1	248	0.0040	c.976 others(4): Show c.9767C>G	p.Ser others(7): Show p.Ser3256Cys	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	11/23	9800/12844	9767/12507	3256/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73534928	A A	G G	missense_variant missense_variant	MODERATE	HG02559.hp2 HG03209.hp2 NA19240.hp1 HG02559.hp2 HG03209.hp2 NA19240.hp1	a0014 a0014	a0014c0021 a0014c0039 a0014c0021 a0014c0039	a0014c0021t0001 a0014c0039t0001 a0014c0021t0001 a0014c0039t0001	a0014c0021t0001g0043 a0014c0021t0001g0044 a0014c0039t0001g0045 a0014c0021t0001g0043 a0014c0021t0001g0044 a0014c0039t0001g0045	3	248	0.0121	c.988 others(4): Show c.9886A>G	p.Thr others(7): Show p.Thr3296Ala	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	12/23	9919/12844	9886/12507	3296/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73550273	A A	G G	missense_variant missense_variant	MODERATE	HG03669.hp2 NA19058.hp1 HG03669.hp2 NA19058.hp1	a0036 a0037 a0036 a0037	a0036c0045 a0037c0044 a0036c0045 a0037c0044	a0036c0045t0002 a0037c0044t0002 a0036c0045t0002 a0037c0044t0002	a0036c0045t0002g0062 a0037c0044t0002g0079 a0036c0045t0002g0062 a0037c0044t0002g0079	2	248	0.0081	c.991 others(4): Show c.9914A>G	p.Asn others(7): Show p.Asn3305Ser	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	13/23	9947/12844	9914/12507	3305/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73559030	G G	C C	missense_variant missense_variant	MODERATE	HG01361.hp1 HG02615.hp2 HG02970.hp2 others(2): Show HG01361.hp1 HG02615.hp2 HG02970.hp2 HG03098.hp2 NA19030.hp1	a0012 a0046 a0012 a0046	a0012c0012 a0046c0065 a0012c0012 a0046c0065	a0012c0012t0001 a0046c0065t0001 a0012c0012t0001 a0046c0065t0001	a0012c0012t0001g0202 a0012c0012t0001g0203 a0012c0012t0001g0204 others(2): Show a0012c0012t0001g0202 a0012c0012t0001g0203 a0012c0012t0001g0204 a0012c0012t0001g0209 a0046c0065t0001g0205	5	248	0.0202	c.102 others(5): Show c.10272G>C	p.Lys others(7): Show p.Lys3424Asn	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	15/23	10305/12844	10272/12507	3424/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73559061	A A	G G	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02647.hp1 HG02896.hp1 others(2): Show HG02622.hp1 HG02647.hp1 HG02896.hp1 HG03195.hp1 HG06807.hp2	a0011 a0011	a0011c0022 a0011c0024 a0011c0048 a0011c0022 a0011c0024 a0011c0048	a0011c0022t0001 a0011c0024t0001 a0011c0048t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001	a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 others(2): Show a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0024t0001g0198 a0011c0048t0001g0197	5	248	0.0202	c.103 others(5): Show c.10303A>G	p.Lys others(7): Show p.Lys3435Glu	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	15/23	10336/12844	10303/12507	3435/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73572505	C C	G G	missense_variant missense_variant	MODERATE	HG01169.hp2 HG01169.hp2	a0052 a0052	a0052c0071 a0052c0071	a0052c0071t0001 a0052c0071t0001	a0052c0071t0001g0140 a0052c0071t0001g0140	1	248	0.0040	c.106 others(5): Show c.10628C>G	p.Thr others(7): Show p.Thr3543Ser	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/23	10661/12844	10628/12507	3543/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73572528	A A	G G	missense_variant missense_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0038 a0038	a0038c0051 a0038c0051	a0038c0051t0001 a0038c0051t0001	a0038c0051t0001g0210 a0038c0051t0001g0210	1	248	0.0040	c.106 others(5): Show c.10651A>G	p.Asn others(7): Show p.Asn3551Asp	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/23	10684/12844	10651/12507	3551/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73572628	A A	T T	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01243.hp1	a0032 a0032	a0032c0046 a0032c0046	a0032c0046t0001 a0032c0046t0001	a0032c0046t0001g0230 a0032c0046t0001g0230	1	248	0.0040	c.107 others(5): Show c.10751A>T	p.Gln others(7): Show p.Gln3584Leu	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/23	10784/12844	10751/12507	3584/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73572651	A A	G G	missense_variant missense_variant	MODERATE	HG01261.hp2 HG01261.hp2	a0030 a0030	a0030c0038 a0030c0038	a0030c0038t0001 a0030c0038t0001	a0030c0038t0001g0055 a0030c0038t0001g0055	1	248	0.0040	c.107 others(5): Show c.10774A>G	p.Thr others(7): Show p.Thr3592Ala	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/23	10807/12844	10774/12507	3592/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73572769	G G	A A	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0024 a0024	a0024c0030 a0024c0030	a0024c0030t0001 a0024c0030t0001	a0024c0030t0001g0227 a0024c0030t0001g0227	1	248	0.0040	c.108 others(5): Show c.10892G>A	p.Arg others(7): Show p.Arg3631His	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/23	10925/12844	10892/12507	3631/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73572931	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp1 HG02055.hp2 HG02451.hp2 others(7): Show HG00735.hp1 HG02055.hp2 HG02451.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03540.hp1	a0008 a0017 a0027 others(1): Show a0008 a0017 a0027 a0028	a0008c0008 a0017c0017 a0027c0032 others(1): Show a0008c0008 a0017c0017 a0027c0032 a0028c0033	a0008c0008t0001 a0017c0017t0003 a0027c0032t0001 others(1): Show a0008c0008t0001 a0017c0017t0003 a0027c0032t0001 a0028c0033t0001	a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 others(7): Show a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0017c0017t0003g0224 a0017c0017t0003g0225 a0027c0032t0001g0236 a0028c0033t0001g0238	10	248	0.0403	c.110 others(5): Show c.11054G>A	p.Ser others(7): Show p.Ser3685Asn	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/23	11087/12844	11054/12507	3685/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73572994	C C	G G	missense_variant missense_variant	MODERATE	HG03688.hp1 HG04199.hp1 HG03688.hp1 HG04199.hp1	a0053 a0058 a0053 a0058	a0053c0070 a0058c0074 a0053c0070 a0058c0074	a0053c0070t0001 a0058c0074t0001 a0053c0070t0001 a0058c0074t0001	a0053c0070t0001g0139 a0058c0074t0001g0147 a0053c0070t0001g0139 a0058c0074t0001g0147	2	248	0.0081	c.111 others(5): Show c.11117C>G	p.Ser others(7): Show p.Ser3706Cys	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/23	11150/12844	11117/12507	3706/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73573143	G G	A A	missense_variant missense_variant	MODERATE	HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show HG01099.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02572.hp2 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03139.hp1	a0006 a0026 a0006 a0026	a0006c0007 a0006c0010 a0026c0057 a0006c0007 a0006c0010 a0026c0057	a0006c0007t0001 a0006c0010t0001 a0026c0057t0001 a0006c0007t0001 a0006c0010t0001 a0026c0057t0001	a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 others(9): Show a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0026c0057t0001g0105	12	248	0.0484	c.112 others(5): Show c.11266G>A	p.Gly others(7): Show p.Gly3756Ser	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/23	11299/12844	11266/12507	3756/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73599437	T T	C C	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0025 a0025	a0025c0031 a0025c0031	a0025c0031t0001 a0025c0031t0001	a0025c0031t0001g0226 a0025c0031t0001g0226	1	248	0.0040	c.115 others(5): Show c.11584T>C	p.Ser others(7): Show p.Ser3862Pro	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	17/23	11617/12844	11584/12507	3862/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73600830	G G	A A	missense_variant missense_variant	MODERATE	HG02717.hp2 NA19030.hp2 HG02717.hp2 NA19030.hp2	a0024 a0025 a0024 a0025	a0024c0030 a0025c0031 a0024c0030 a0025c0031	a0024c0030t0001 a0025c0031t0001 a0024c0030t0001 a0025c0031t0001	a0024c0030t0001g0227 a0025c0031t0001g0226 a0024c0030t0001g0227 a0025c0031t0001g0226	2	248	0.0081	c.118 others(5): Show c.11821G>A	p.Gly others(7): Show p.Gly3941Ser	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	18/23	11854/12844	11821/12507	3941/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73601411	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(113): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.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 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03540.hp1 HG03540.hp2 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.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19030.hp2 NA19058.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19089.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(21): Show a0001 a0005 a0006 a0007 a0008 a0013 a0015 a0016 a0017 a0023 a0024 a0025 a0026 a0028 a0042 a0048 a0050 a0051 a0052 a0053 a0055 a0056 a0058 a0059	a0001c0001 a0001c0066 a0005c0005 others(24): Show a0001c0001 a0001c0066 a0005c0005 a0005c0058 a0006c0007 a0006c0010 a0007c0006 a0008c0008 a0013c0014 a0015c0015 a0016c0016 a0017c0017 a0023c0027 a0024c0030 a0025c0031 a0026c0057 a0028c0033 a0042c0034 a0048c0059 a0050c0067 a0051c0068 a0052c0071 a0053c0070 a0055c0072 a0056c0073 a0058c0074 a0059c0076	a0001c0001t0001 a0001c0001t0004 a0001c0066t0001 others(26): Show a0001c0001t0001 a0001c0001t0004 a0001c0066t0001 a0005c0005t0001 a0005c0058t0001 a0006c0007t0001 a0006c0010t0001 a0007c0006t0001 a0008c0008t0001 a0013c0014t0001 a0015c0015t0001 a0016c0016t0001 a0016c0016t0005 a0017c0017t0003 a0023c0027t0001 a0024c0030t0001 a0025c0031t0001 a0026c0057t0001 a0028c0033t0001 a0042c0034t0001 a0048c0059t0001 a0050c0067t0001 a0051c0068t0001 a0052c0071t0001 a0053c0070t0001 a0055c0072t0001 a0056c0073t0001 a0058c0074t0001 a0059c0076t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0095 others(113): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0095 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0248 a0001c0001t0004g0133 a0001c0066t0001g0135 a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0007c0006t0001g0122 a0007c0006t0001g0127 a0007c0006t0001g0131 a0007c0006t0001g0142 a0007c0006t0001g0148 a0007c0006t0001g0152 a0007c0006t0001g0158 a0007c0006t0001g0163 a0007c0006t0001g0166 a0007c0006t0001g0173 a0007c0006t0001g0211 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0013c0014t0001g0129 a0013c0014t0001g0164 a0013c0014t0001g0172 a0013c0014t0001g0180 a0015c0015t0001g0181 a0015c0015t0001g0190 a0015c0015t0001g0214 a0016c0016t0001g0220 a0016c0016t0001g0221 a0016c0016t0005g0222 a0017c0017t0003g0224 a0017c0017t0003g0225 a0023c0027t0001g0007 a0023c0027t0001g0161 a0024c0030t0001g0227 a0025c0031t0001g0226 a0026c0057t0001g0105 a0028c0033t0001g0238 a0042c0034t0001g0025 a0048c0059t0001g0155 a0050c0067t0001g0223 a0051c0068t0001g0128 a0052c0071t0001g0140 a0053c0070t0001g0139 a0055c0072t0001g0177 a0056c0073t0001g0123 a0058c0074t0001g0147 a0059c0076t0001g0003	116	248	0.4677	c.120 others(5): Show c.12089G>A	p.Arg others(7): Show p.Arg4030Lys	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	19/23	12122/12844	12089/12507	4030/4168	chr2	TogoVar
ALOX12B_chr17_8067636_8092716	8072920	A A	T T	missense_variant missense_variant	MODERATE	NA19054.hp2 NA19054.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0002 a0004c0011t0002	a0004c0011t0002g0101 a0004c0011t0002g0101	1	462	0.0022	c.195 others(4): Show c.1957T>A	p.Phe others(6): Show p.Phe653Ile	ALOX12B	ENSG00000179477.11	transcript	ENST00000647874.1	protein_coding	15/15	2231/2515	1957/2106	653/701	chr17	TogoVar
ALOX12B_chr17_8067636_8092716	8075684	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp1 NA18963.hp2 NA18981.hp2 others(1): Show HG00438.hp1 NA18963.hp2 NA18981.hp2 NA18984.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0001 a0002c0004t0002	a0002c0004t0001g0255 a0002c0004t0002g0023 a0002c0004t0001g0255 a0002c0004t0002g0023	4	462	0.0087	c.156 others(4): Show c.1565C>T	p.Pro others(6): Show p.Pro522Leu	ALOX12B	ENSG00000179477.11	transcript	ENST00000647874.1	protein_coding	12/15	1839/2515	1565/2106	522/701	chr17	TogoVar
ALOX12B_chr17_8067636_8092716	8081161	G G	A A	missense_variant missense_variant	MODERATE	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0180 a0005c0013t0001g0180	1	462	0.0022	c.379 others(3): Show c.379C>T	p.Pro others(6): Show p.Pro127Ser	ALOX12B	ENSG00000179477.11	transcript	ENST00000647874.1	protein_coding	3/15	653/2515	379/2106	127/701	chr17	TogoVar
ALOX12B_chr17_8067636_8092716	8086067	C C	T T	missense_variant missense_variant	MODERATE	HG04184.hp2 HG04184.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0076 a0006c0010t0002g0076	1	462	0.0022	c.301 others(3): Show c.301G>A	p.Ala others(6): Show p.Ala101Thr	ALOX12B	ENSG00000179477.11	transcript	ENST00000647874.1	protein_coding	2/15	575/2515	301/2106	101/701	chr17	TogoVar
ALOX12B_chr17_8067636_8092716	8086084	C C	T T	missense_variant missense_variant	MODERATE	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0247 a0003c0009t0001g0247	1	462	0.0022	c.284 others(3): Show c.284G>A	p.Arg others(5): Show p.Arg95His	ALOX12B	ENSG00000179477.11	transcript	ENST00000647874.1	protein_coding	2/15	558/2515	284/2106	95/701	chr17	TogoVar
ALOX12B_chr17_8067636_8092716	8086088	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0158 a0007c0008t0001g0158	1	462	0.0022	c.280 others(3): Show c.280G>A	p.Gly others(5): Show p.Gly94Ser	ALOX12B	ENSG00000179477.11	transcript	ENST00000647874.1	protein_coding	2/15	554/2515	280/2106	94/701	chr17	TogoVar
ALOX12_chr17_6991049_7015754	6996241	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03130.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0200 a0009c0012t0001g0200	1	404	0.0025	c.124 others(3): Show c.124G>A	p.Ala others(5): Show p.Ala42Thr	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	1/14	193/2392	124/1992	42/663	chr17	TogoVar
ALOX12_chr17_6991049_7015754	6998976	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0044 a0005c0014t0001g0044	1	404	0.0025	c.566 others(3): Show c.566G>A	p.Arg others(6): Show p.Arg189His	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	5/14	635/2392	566/1992	189/663	chr17	TogoVar
ALOX12_chr17_6991049_7015754	6999441	A A	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(252): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0009	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0016 a0001c0021 a0004c0010 a0005c0014 a0008c0015 a0009c0012	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(10): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0001c0016t0001 a0001c0021t0004 a0004c0010t0001 a0005c0014t0001 a0008c0015t0001 a0009c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(131): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0017 a0001c0003t0001g0028 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0132 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0164 a0001c0003t0001g0211 a0001c0003t0002g0017 a0001c0003t0002g0028 a0001c0003t0002g0163 a0001c0003t0002g0165 a0001c0006t0001g0009 a0001c0006t0001g0041 a0001c0006t0001g0113 a0001c0006t0001g0129 a0001c0006t0001g0130 a0001c0006t0001g0133 a0001c0007t0001g0018 a0001c0007t0001g0128 a0001c0007t0001g0187 a0001c0009t0001g0007 a0001c0009t0001g0058 a0001c0011t0001g0019 a0001c0016t0001g0191 a0001c0021t0004g0127 a0004c0010t0001g0116 a0004c0010t0001g0117 a0005c0014t0001g0044 a0008c0015t0001g0183 a0009c0012t0001g0200	255	404	0.6312	c.782 others(3): Show c.782A>G	p.Gln others(6): Show p.Gln261Arg	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	6/14	851/2392	782/1992	261/663	chr17	TogoVar
ALOX12_chr17_6991049_7015754	7001615	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(123): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02818.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp2 HG03225.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18978.hp2 NA18983.hp1 NA18985.hp2 NA18990.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0004 a0002c0013 others(2): Show a0002c0002 a0002c0004 a0002c0013 a0002c0019 a0006c0020	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 others(4): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0004t0001 a0002c0013t0001 a0002c0019t0001 a0006c0020t0001	a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0020 others(70): Show a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0066 a0002c0002t0005g0006 a0002c0004t0001g0002 a0002c0004t0001g0012 a0002c0004t0001g0024 a0002c0004t0001g0025 a0002c0004t0001g0026 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0090 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0101 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0107 a0002c0004t0001g0108 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0149 a0002c0013t0001g0068 a0002c0019t0001g0102 a0006c0020t0001g0112	126	404	0.3119	c.965 others(3): Show c.965A>G	p.Asn others(6): Show p.Asn322Ser	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	8/14	1034/2392	965/1992	322/663	chr17	TogoVar
ALOX12_chr17_6991049_7015754	7001660	C C	T T	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02970.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0112 a0006c0020t0001g0112	1	404	0.0025	c.101 others(4): Show c.1010C>T	p.Pro others(6): Show p.Pro337Leu	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	8/14	1079/2392	1010/1992	337/663	chr17	TogoVar
ALOX12_chr17_6991049_7015754	7005306	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00323.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0183 a0008c0015t0001g0183	1	404	0.0025	c.121 others(4): Show c.1211G>A	p.Arg others(6): Show p.Arg404Gln	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	9/14	1280/2392	1211/1992	404/663	chr17	TogoVar
ALOX12_chr17_6991049_7015754	7005898	G G	A A	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03516.hp1 HG03486.hp2 HG03516.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0116 a0004c0010t0001g0117 a0004c0010t0001g0116 a0004c0010t0001g0117	2	404	0.0050	c.128 others(4): Show c.1289G>A	p.Arg others(6): Show p.Arg430His	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	10/14	1358/2392	1289/1992	430/663	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8039198	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02615.hp2 HG02896.hp1 others(2): Show HG02257.hp1 HG02615.hp2 HG02896.hp1 HG02897.hp2 HG03579.hp1	a0013 a0026 a0027 a0013 a0026 a0027	a0013c0015 a0026c0027 a0027c0026 a0013c0015 a0026c0027 a0027c0026	a0013c0015t0001 a0026c0027t0001 a0027c0026t0014 a0013c0015t0001 a0026c0027t0001 a0027c0026t0014	a0013c0015t0001g0075 a0013c0015t0001g0086 a0026c0027t0001g0250 others(1): Show a0013c0015t0001g0075 a0013c0015t0001g0086 a0026c0027t0001g0250 a0027c0026t0014g0108	5	470	0.0106	c.43G others(2): Show c.43G>A	p.Gly others(5): Show p.Gly15Arg	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	1/14	140/2697	43/2031	15/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8039264	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0025 a0025	a0025c0053 a0025c0053	a0025c0053t0004 a0025c0053t0004	a0025c0053t0004g0254 a0025c0053t0004g0254	1	470	0.0021	c.109 others(3): Show c.109C>T	p.Pro others(5): Show p.Pro37Ser	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	1/14	206/2697	109/2031	37/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8039467	C C	G G	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02257.hp2 HG02622.hp1 others(10): Show HG01891.hp2 HG02257.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 NA19240.hp2	a0008 a0009 a0016 others(2): Show a0008 a0009 a0016 a0017 a0026	a0008c0013 a0009c0025 a0009c0051 others(4): Show a0008c0013 a0009c0025 a0009c0051 a0009c0052 a0016c0050 a0017c0049 a0026c0027	a0008c0013t0003 a0008c0013t0007 a0009c0025t0004 others(5): Show a0008c0013t0003 a0008c0013t0007 a0009c0025t0004 a0009c0051t0001 a0009c0052t0002 a0016c0050t0002 a0017c0049t0001 a0026c0027t0001	a0008c0013t0003g0252 a0008c0013t0003g0256 a0008c0013t0003g0258 others(9): Show a0008c0013t0003g0252 a0008c0013t0003g0256 a0008c0013t0003g0258 a0008c0013t0007g0073 a0008c0013t0007g0248 a0008c0013t0007g0249 a0009c0025t0004g0062 a0009c0051t0001g0237 a0009c0052t0002g0156 a0016c0050t0002g0208 a0017c0049t0001g0245 a0026c0027t0001g0250	13	470	0.0277	c.229 others(3): Show c.229C>G	p.Pro others(5): Show p.Pro77Ala	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	2/14	326/2697	229/2031	77/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8039479	C C	T T	missense_variant missense_variant	MODERATE	NA18995.hp1 NA19070.hp2 NA18995.hp1 NA19070.hp2	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0004 a0015c0024t0012 a0015c0024t0004 a0015c0024t0012	a0015c0024t0004g0007 a0015c0024t0012g0015 a0015c0024t0004g0007 a0015c0024t0012g0015	2	470	0.0043	c.241 others(3): Show c.241C>T	p.Pro others(5): Show p.Pro81Ser	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	2/14	338/2697	241/2031	81/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8042407	A A	G G	missense_variant missense_variant	MODERATE	HG02738.hp2 HG02738.hp2	a0024 a0024	a0024c0041 a0024c0041	a0024c0041t0001 a0024c0041t0001	a0024c0041t0001g0039 a0024c0041t0001g0039	1	470	0.0021	c.488 others(3): Show c.488A>G	p.Asp others(6): Show p.Asp163Gly	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	4/14	585/2697	488/2031	163/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8044921	C C	T T	missense_variant missense_variant	MODERATE	HG02300.hp1 HG02300.hp1	a0018 a0018	a0018c0035 a0018c0035	a0018c0035t0001 a0018c0035t0001	a0018c0035t0001g0023 a0018c0035t0001g0023	1	470	0.0021	c.769 others(3): Show c.769C>T	p.Leu others(6): Show p.Leu257Phe	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	6/14	866/2697	769/2031	257/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8045320	C C	T T	missense_variant missense_variant	MODERATE	HG01934.hp1 NA18941.hp2 NA18953.hp1 others(5): Show HG01934.hp1 NA18941.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA18979.hp1 NA18980.hp1 NA19084.hp1	a0007 a0007	a0007c0012 a0007c0034 a0007c0012 a0007c0034	a0007c0012t0002 a0007c0034t0002 a0007c0012t0002 a0007c0034t0002	a0007c0012t0002g0021 a0007c0012t0002g0032 a0007c0012t0002g0090 others(5): Show a0007c0012t0002g0021 a0007c0012t0002g0032 a0007c0012t0002g0090 a0007c0012t0002g0101 a0007c0012t0002g0114 a0007c0012t0002g0115 a0007c0012t0002g0116 a0007c0034t0002g0117	8	470	0.0170	c.932 others(3): Show c.932C>T	p.Ala others(6): Show p.Ala311Val	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	7/14	1029/2697	932/2031	311/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8045322	G G	T T	missense_variant missense_variant	MODERATE	HG01978.hp1 HG02273.hp2 HG02293.hp2 HG01978.hp1 HG02273.hp2 HG02293.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0011 a0012c0016t0001g0018 a0012c0016t0001g0171 a0012c0016t0001g0011 a0012c0016t0001g0018 a0012c0016t0001g0171	3	470	0.0064	c.934 others(3): Show c.934G>T	p.Ala others(6): Show p.Ala312Ser	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	7/14	1031/2697	934/2031	312/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8047001	G G	A A	missense_variant missense_variant	MODERATE	HG01516.hp1 HG01516.hp1	a0019 a0019	a0019c0037 a0019c0037	a0019c0037t0004 a0019c0037t0004	a0019c0037t0004g0036 a0019c0037t0004g0036	1	470	0.0021	c.138 others(4): Show c.1382G>A	p.Arg others(6): Show p.Arg461Gln	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	10/14	1479/2697	1382/2031	461/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8047076	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01109.hp2 HG01167.hp2 HG01243.hp2 others(51): Show HG01109.hp2 HG01167.hp2 HG01243.hp2 HG01884.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18948.hp1 NA18988.hp1 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA19006.hp2 NA19007.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19059.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp2 NA19089.hp1 NA19240.hp1	a0003 a0005 a0016 others(1): Show a0003 a0005 a0016 a0020	a0003c0004 a0003c0028 a0005c0009 others(3): Show a0003c0004 a0003c0028 a0005c0009 a0005c0017 a0016c0050 a0020c0038	a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 others(5): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0003c0028t0002 a0005c0009t0003 a0005c0017t0007 a0016c0050t0002 a0020c0038t0001	a0003c0004t0001g0061 a0003c0004t0001g0076 a0003c0004t0001g0150 others(46): Show a0003c0004t0001g0061 a0003c0004t0001g0076 a0003c0004t0001g0150 a0003c0004t0001g0164 a0003c0004t0001g0166 a0003c0004t0001g0167 a0003c0004t0001g0189 a0003c0004t0001g0190 a0003c0004t0001g0192 a0003c0004t0001g0204 a0003c0004t0001g0206 a0003c0004t0001g0230 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0263 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0002g0061 a0003c0004t0002g0138 a0003c0004t0002g0149 a0003c0004t0002g0151 a0003c0004t0002g0169 a0003c0004t0002g0193 a0003c0004t0002g0194 a0003c0004t0002g0220 a0003c0004t0002g0262 a0003c0004t0002g0266 a0003c0004t0005g0070 a0003c0004t0005g0137 a0003c0004t0005g0191 a0003c0004t0005g0205 a0003c0004t0005g0227 a0003c0004t0005g0275 a0003c0004t0005g0276 a0003c0028t0002g0154 a0005c0009t0003g0077 a0005c0009t0003g0078 a0005c0009t0003g0079 a0005c0009t0003g0267 a0005c0009t0003g0269 a0005c0009t0003g0270 a0005c0009t0003g0271 a0005c0009t0003g0273 a0005c0009t0003g0274 a0005c0017t0007g0165 a0005c0017t0007g0268 a0005c0017t0007g0272 a0016c0050t0002g0208 a0020c0038t0001g0135	54	470	0.1149	c.145 others(4): Show c.1457G>A	p.Arg others(6): Show p.Arg486His	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	10/14	1554/2697	1457/2031	486/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8047871	G G	A A	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00597.hp2	a0022 a0022	a0022c0042 a0022c0042	a0022c0042t0002 a0022c0042t0002	a0022c0042t0002g0112 a0022c0042t0002g0112	1	470	0.0021	c.180 others(4): Show c.1807G>A	p.Val others(6): Show p.Val603Ile	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	13/14	1904/2697	1807/2031	603/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8048437	C C	T T	missense_variant missense_variant	MODERATE	HG02735.hp2 HG03490.hp2 HG03492.hp1 HG02735.hp2 HG03490.hp2 HG03492.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0040 a0011c0020t0001g0068 a0011c0020t0001g0040 a0011c0020t0001g0068	3	470	0.0064	c.190 others(4): Show c.1903C>T	p.Arg others(6): Show p.Arg635Trp	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	14/14	2000/2697	1903/2031	635/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8048438	G G	A A	missense_variant missense_variant	MODERATE	HG02148.hp1 HG02257.hp2 HG02258.hp2 others(13): Show HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03195.hp2 HG03579.hp1 NA18906.hp1 NA19030.hp1 NA21309.hp1	a0006 a0013 a0017 others(2): Show a0006 a0013 a0017 a0020 a0026	a0006c0011 a0006c0045 a0006c0048 others(4): Show a0006c0011 a0006c0045 a0006c0048 a0013c0015 a0017c0049 a0020c0038 a0026c0027	a0006c0011t0001 a0006c0011t0002 a0006c0045t0001 others(5): Show a0006c0011t0001 a0006c0011t0002 a0006c0045t0001 a0006c0048t0001 a0013c0015t0001 a0017c0049t0001 a0020c0038t0001 a0026c0027t0001	a0006c0011t0001g0074 a0006c0011t0001g0107 a0006c0011t0001g0255 others(9): Show a0006c0011t0001g0074 a0006c0011t0001g0107 a0006c0011t0001g0255 a0006c0011t0002g0042 a0006c0011t0002g0121 a0006c0045t0001g0120 a0006c0048t0001g0251 a0013c0015t0001g0075 a0013c0015t0001g0086 a0017c0049t0001g0245 a0020c0038t0001g0135 a0026c0027t0001g0250	16	470	0.0340	c.190 others(4): Show c.1904G>A	p.Arg others(6): Show p.Arg635Gln	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	14/14	2001/2697	1904/2031	635/676	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8048461	C C	T T	missense_variant missense_variant	MODERATE	NA18980.hp2 NA19085.hp2 NA18980.hp2 NA19085.hp2	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0002 a0014c0022t0002	a0014c0022t0002g0047 a0014c0022t0002g0051 a0014c0022t0002g0047 a0014c0022t0002g0051	2	470	0.0043	c.192 others(4): Show c.1927C>T	p.Arg others(6): Show p.Arg643Cys	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	14/14	2024/2697	1927/2031	643/676	chr17	TogoVar

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