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
AKAP10_chr17_19899302_19982828	19909228	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(149): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18951.hp1 NA18957.hp2 NA18961.hp2 NA18968.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA19002.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0006 a0001c0008 others(4): Show a0001c0001 a0001c0006 a0001c0008 a0001c0011 a0003c0003 a0005c0005 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0006t0028 a0001c0008t0002 a0001c0011t0006 a0003c0003t0005 a0003c0003t0008 a0003c0003t0015 a0003c0003t0029 a0005c0005t0013 a0006c0010t0026	a0001c0001t0001g0052 a0001c0001t0002g0010 a0001c0001t0002g0011 others(147): Show a0001c0001t0001g0052 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0271 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0226 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0007g0001 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0009g0057 a0001c0001t0009g0058 a0001c0001t0009g0238 a0001c0001t0011g0047 a0001c0001t0011g0053 a0001c0001t0012g0003 a0001c0001t0012g0274 a0001c0001t0014g0256 a0001c0001t0014g0258 a0001c0001t0017g0008 a0001c0001t0018g0029 a0001c0001t0019g0031 a0001c0001t0020g0009 a0001c0001t0023g0237 a0001c0001t0024g0227 a0001c0001t0025g0182 a0001c0006t0028g0056 a0001c0008t0002g0048 a0001c0011t0006g0273 a0003c0003t0005g0236 a0003c0003t0005g0239 a0003c0003t0005g0243 a0003c0003t0005g0244 a0003c0003t0005g0245 a0003c0003t0005g0246 a0003c0003t0005g0248 a0003c0003t0005g0249 a0003c0003t0005g0251 a0003c0003t0005g0252 a0003c0003t0005g0272 a0003c0003t0008g0241 a0003c0003t0008g0247 a0003c0003t0008g0268 a0003c0003t0008g0269 a0003c0003t0008g0270 a0003c0003t0015g0240 a0003c0003t0015g0250 a0003c0003t0029g0242 a0005c0005t0013g0006 a0005c0005t0013g0007 a0006c0010t0026g0177	152	278	0.5468	c.193 others(4): Show c.1936A>G	p.Ile others(6): Show p.Ile646Val	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	14/15	2085/4063	1936/1989	646/662	chr17	TogoVar
AKAP10_chr17_19899302_19982828	19931878	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02809.hp2 HG02895.hp1 others(2): Show HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG03139.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0001 a0004c0004t0002	a0004c0004t0001g0075 a0004c0004t0001g0086 a0004c0004t0001g0154 others(2): Show a0004c0004t0001g0075 a0004c0004t0001g0086 a0004c0004t0001g0154 a0004c0004t0001g0156 a0004c0004t0002g0155	5	278	0.0180	c.156 others(4): Show c.1568C>T	p.Ser others(6): Show p.Ser523Leu	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	10/15	1717/4063	1568/1989	523/662	chr17	TogoVar
AKAP10_chr17_19899302_19982828	19958145	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(148): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18951.hp1 NA18957.hp2 NA18961.hp2 NA18968.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA19002.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0006 a0001c0008 others(3): Show a0001c0001 a0001c0006 a0001c0008 a0001c0011 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0006t0028 a0001c0008t0002 a0001c0011t0006 a0003c0003t0005 a0003c0003t0008 a0003c0003t0015 a0003c0003t0029 a0005c0005t0013	a0001c0001t0001g0052 a0001c0001t0002g0010 a0001c0001t0002g0011 others(146): Show a0001c0001t0001g0052 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0271 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0226 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0007g0001 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0009g0057 a0001c0001t0009g0058 a0001c0001t0009g0238 a0001c0001t0011g0047 a0001c0001t0011g0053 a0001c0001t0012g0003 a0001c0001t0012g0274 a0001c0001t0014g0256 a0001c0001t0014g0258 a0001c0001t0017g0008 a0001c0001t0018g0029 a0001c0001t0019g0031 a0001c0001t0020g0009 a0001c0001t0023g0237 a0001c0001t0024g0227 a0001c0001t0025g0182 a0001c0006t0028g0056 a0001c0008t0002g0048 a0001c0011t0006g0273 a0003c0003t0005g0236 a0003c0003t0005g0239 a0003c0003t0005g0243 a0003c0003t0005g0244 a0003c0003t0005g0245 a0003c0003t0005g0246 a0003c0003t0005g0248 a0003c0003t0005g0249 a0003c0003t0005g0251 a0003c0003t0005g0252 a0003c0003t0005g0272 a0003c0003t0008g0241 a0003c0003t0008g0247 a0003c0003t0008g0268 a0003c0003t0008g0269 a0003c0003t0008g0270 a0003c0003t0015g0240 a0003c0003t0015g0250 a0003c0003t0029g0242 a0005c0005t0013g0006 a0005c0005t0013g0007	151	278	0.5432	c.746 others(3): Show c.746G>A	p.Arg others(6): Show p.Arg249His	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	4/15	895/4063	746/1989	249/662	chr17	TogoVar
AKAP10_chr17_19899302_19982828	19958286	G G	C C	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00438.hp2 HG02083.hp2 others(16): Show HG00408.hp2 HG00438.hp2 HG02083.hp2 HG02155.hp2 NA18943.hp1 NA18944.hp2 NA18951.hp1 NA18957.hp2 NA18961.hp2 NA18975.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA19012.hp1 NA19063.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0008 a0003c0003t0015 others(1): Show a0003c0003t0005 a0003c0003t0008 a0003c0003t0015 a0003c0003t0029	a0003c0003t0005g0236 a0003c0003t0005g0239 a0003c0003t0005g0243 others(16): Show a0003c0003t0005g0236 a0003c0003t0005g0239 a0003c0003t0005g0243 a0003c0003t0005g0244 a0003c0003t0005g0245 a0003c0003t0005g0246 a0003c0003t0005g0248 a0003c0003t0005g0249 a0003c0003t0005g0251 a0003c0003t0005g0252 a0003c0003t0005g0272 a0003c0003t0008g0241 a0003c0003t0008g0247 a0003c0003t0008g0268 a0003c0003t0008g0269 a0003c0003t0008g0270 a0003c0003t0015g0240 a0003c0003t0015g0250 a0003c0003t0029g0242	19	278	0.0684	c.605 others(3): Show c.605C>G	p.Ser others(6): Show p.Ser202Cys	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	4/15	754/4063	605/1989	202/662	chr17	TogoVar
AKAP10_chr17_19899302_19982828	19968419	A A	G G	missense_variant missense_variant	MODERATE	HG03540.hp2 NA19240.hp2 HG03540.hp2 NA19240.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0013 a0005c0005t0013	a0005c0005t0013g0006 a0005c0005t0013g0007 a0005c0005t0013g0006 a0005c0005t0013g0007	2	278	0.0072	c.131 others(3): Show c.131T>C	p.Ile others(5): Show p.Ile44Thr	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	2/15	280/4063	131/1989	44/662	chr17	TogoVar
AKAP11_chr13_42267152_42328261	42297145	A A	G G	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0023 a0023	a0023c0030 a0023c0030	a0023c0030t0084 a0023c0030t0084	a0023c0030t0084g0193 a0023c0030t0084g0193	1	378	0.0027	c.314 others(3): Show c.314A>G	p.Asn others(6): Show p.Asn105Ser	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	6/13	490/9915	314/5706	105/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42298660	T T	C C	missense_variant missense_variant	MODERATE	NA18944.hp2 NA18944.hp2	a0022 a0022	a0022c0025 a0022c0025	a0022c0025t0001 a0022c0025t0001	a0022c0025t0001g0001 a0022c0025t0001g0001	1	378	0.0027	c.479 others(3): Show c.479T>C	p.Leu others(6): Show p.Leu160Ser	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	7/13	655/9915	479/5706	160/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42300231	T T	G G	missense_variant missense_variant	MODERATE	NA18951.hp1 NA18951.hp1	a0021 a0021	a0021c0016 a0021c0016	a0021c0016t0065 a0021c0016t0065	a0021c0016t0065g0034 a0021c0016t0065g0034	1	378	0.0027	c.148 others(4): Show c.1485T>G	p.Ile others(6): Show p.Ile495Met	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	1661/9915	1485/5706	495/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42300554	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0023 a0023	a0023c0030 a0023c0030	a0023c0030t0084 a0023c0030t0084	a0023c0030t0084g0193 a0023c0030t0084g0193	1	378	0.0027	c.180 others(4): Show c.1808G>A	p.Arg others(6): Show p.Arg603His	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	1984/9915	1808/5706	603/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42300574	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02145.hp2 HG02922.hp1 HG01891.hp2 HG02145.hp2 HG02922.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0072 a0004c0009t0073 a0004c0009t0080 a0004c0009t0072 a0004c0009t0073 a0004c0009t0080	a0004c0009t0072g0172 a0004c0009t0073g0174 a0004c0009t0080g0173 a0004c0009t0072g0172 a0004c0009t0073g0174 a0004c0009t0080g0173	3	378	0.0079	c.182 others(4): Show c.1828C>T	p.Arg others(6): Show p.Arg610Cys	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	2004/9915	1828/5706	610/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42300908	C C	G G	missense_variant missense_variant	MODERATE	NA18941.hp1 NA18941.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0001 a0012c0028t0001	a0012c0028t0001g0059 a0012c0028t0001g0059	1	378	0.0027	c.216 others(4): Show c.2162C>G	p.Ser others(6): Show p.Ser721Cys	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	2338/9915	2162/5706	721/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42300911	C C	T T	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18940.hp1	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0001 a0013c0027t0001	a0013c0027t0001g0001 a0013c0027t0001g0001	1	378	0.0027	c.216 others(4): Show c.2165C>T	p.Thr others(6): Show p.Thr722Met	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	2341/9915	2165/5706	722/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42300953	C C	T T	missense_variant missense_variant	MODERATE	HG01256.hp1 HG03471.hp1 HG01256.hp1 HG03471.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0013 a0007c0015t0028 a0007c0015t0013 a0007c0015t0028	a0007c0015t0013g0180 a0007c0015t0028g0178 a0007c0015t0013g0180 a0007c0015t0028g0178	2	378	0.0053	c.220 others(4): Show c.2207C>T	p.Ser others(6): Show p.Ser736Leu	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	2383/9915	2207/5706	736/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42300989	A A	G G	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0049 a0020c0024t0049	a0020c0024t0049g0126 a0020c0024t0049g0126	1	378	0.0027	c.224 others(4): Show c.2243A>G	p.Asn others(6): Show p.Asn748Ser	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	2419/9915	2243/5706	748/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42301410	A A	T T	missense_variant missense_variant	MODERATE	HG02735.hp1 HG02735.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0078 a0014c0023t0078	a0014c0023t0078g0199 a0014c0023t0078g0199	1	378	0.0027	c.266 others(4): Show c.2664A>T	p.Leu others(6): Show p.Leu888Phe	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	2840/9915	2664/5706	888/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42301451	A A	G G	missense_variant missense_variant	MODERATE	HG01123.hp1 HG02293.hp1 HG01123.hp1 HG02293.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0022 a0011c0014t0022	a0011c0014t0022g0150 a0011c0014t0022g0151 a0011c0014t0022g0150 a0011c0014t0022g0151	2	378	0.0053	c.270 others(4): Show c.2705A>G	p.Glu others(6): Show p.Glu902Gly	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	2881/9915	2705/5706	902/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42301454	G G	A A	missense_variant missense_variant	MODERATE	HG03831.hp1 HG03831.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0076 a0015c0018t0076	a0015c0018t0076g0106 a0015c0018t0076g0106	1	378	0.0027	c.270 others(4): Show c.2708G>A	p.Arg others(6): Show p.Arg903His	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	2884/9915	2708/5706	903/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42301547	A A	G G	missense_variant missense_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0041 a0019c0017t0041	a0019c0017t0041g0196 a0019c0017t0041g0196	1	378	0.0027	c.280 others(4): Show c.2801A>G	p.Asn others(6): Show p.Asn934Ser	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	2977/9915	2801/5706	934/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42301585	A A	G G	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00609.hp2 HG02074.hp2 others(10): Show HG00423.hp2 HG00609.hp2 HG02074.hp2 HG02132.hp2 HG02165.hp1 HG04204.hp1 NA18950.hp2 NA18961.hp1 NA18966.hp1 NA18999.hp2 NA19012.hp2 NA19077.hp1 NA19085.hp1	a0003 a0010 a0003 a0010	a0003c0005 a0003c0022 a0010c0013 a0003c0005 a0003c0022 a0010c0013	a0003c0005t0008 a0003c0005t0075 a0003c0022t0008 others(1): Show a0003c0005t0008 a0003c0005t0075 a0003c0022t0008 a0010c0013t0008	a0003c0005t0008g0006 a0003c0005t0075g0063 a0003c0022t0008g0198 others(1): Show a0003c0005t0008g0006 a0003c0005t0075g0063 a0003c0022t0008g0198 a0010c0013t0008g0006	13	378	0.0344	c.283 others(4): Show c.2839A>G	p.Ile others(6): Show p.Ile947Val	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	3015/9915	2839/5706	947/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42301834	A A	G G	missense_variant missense_variant	MODERATE	HG01981.hp2 HG02647.hp2 HG01981.hp2 HG02647.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0034 a0008c0012t0034	a0008c0012t0034g0035 a0008c0012t0034g0035	2	378	0.0053	c.308 others(4): Show c.3088A>G	p.Thr others(7): Show p.Thr1030Ala	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	3264/9915	3088/5706	1030/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42301967	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00423.hp1 HG02015.hp1 others(14): Show HG00408.hp1 HG00423.hp1 HG02015.hp1 HG02451.hp2 HG04199.hp2 NA18939.hp2 NA18972.hp1 NA18979.hp1 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA19007.hp1 NA19056.hp2 NA19064.hp1 NA19079.hp1 NA19082.hp1 NA19091.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0011 a0002c0004t0018 others(1): Show a0002c0004t0007 a0002c0004t0011 a0002c0004t0018 a0002c0004t0042	a0002c0004t0007g0122 a0002c0004t0007g0131 a0002c0004t0007g0134 others(8): Show a0002c0004t0007g0122 a0002c0004t0007g0131 a0002c0004t0007g0134 a0002c0004t0011g0011 a0002c0004t0011g0040 a0002c0004t0011g0041 a0002c0004t0011g0135 a0002c0004t0018g0011 a0002c0004t0018g0133 a0002c0004t0018g0136 a0002c0004t0042g0132	17	378	0.0450	c.322 others(4): Show c.3221C>T	p.Ser others(7): Show p.Ser1074Phe	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	3397/9915	3221/5706	1074/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42301991	G G	T T	missense_variant missense_variant	MODERATE	NA18945.hp2 NA18948.hp1 NA19056.hp1 NA18945.hp2 NA18948.hp1 NA19056.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0040 a0006c0008t0092 a0006c0008t0040 a0006c0008t0092	a0006c0008t0040g0022 a0006c0008t0092g0022 a0006c0008t0040g0022 a0006c0008t0092g0022	3	378	0.0079	c.324 others(4): Show c.3245G>T	p.Gly others(7): Show p.Gly1082Val	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	3421/9915	3245/5706	1082/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42302074	C C	T T	missense_variant missense_variant	MODERATE	HG01261.hp2 HG01261.hp2	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0012 a0018c0021t0012	a0018c0021t0012g0007 a0018c0021t0012g0007	1	378	0.0027	c.332 others(4): Show c.3328C>T	p.Arg others(7): Show p.Arg1110Trp	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	3504/9915	3328/5706	1110/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42302479	T T	A A	missense_variant missense_variant	MODERATE	HG03831.hp1 HG03831.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0076 a0015c0018t0076	a0015c0018t0076g0106 a0015c0018t0076g0106	1	378	0.0027	c.373 others(4): Show c.3733T>A	p.Phe others(7): Show p.Phe1245Ile	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	3909/9915	3733/5706	1245/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42302725	T T	C C	missense_variant missense_variant	MODERATE	HG00609.hp2 NA19085.hp1 HG00609.hp2 NA19085.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0008 a0010c0013t0008	a0010c0013t0008g0006 a0010c0013t0008g0006	2	378	0.0053	c.397 others(4): Show c.3979T>C	p.Cys others(7): Show p.Cys1327Arg	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	4155/9915	3979/5706	1327/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42302860	G G	A A	missense_variant missense_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0096 a0017c0020t0096	a0017c0020t0096g0153 a0017c0020t0096g0153	1	378	0.0027	c.411 others(4): Show c.4114G>A	p.Ala others(7): Show p.Ala1372Thr	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	4290/9915	4114/5706	1372/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42302976	A A	C C	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03579.hp2 NA19240.hp2 HG03098.hp2 HG03579.hp2 NA19240.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0034 a0005c0007t0039 a0005c0007t0034 a0005c0007t0039	a0005c0007t0034g0141 a0005c0007t0039g0139 a0005c0007t0039g0140 a0005c0007t0034g0141 a0005c0007t0039g0139 a0005c0007t0039g0140	3	378	0.0079	c.423 others(4): Show c.4230A>C	p.Leu others(7): Show p.Leu1410Phe	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	4406/9915	4230/5706	1410/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42303004	G G	A A	missense_variant missense_variant	MODERATE	HG03831.hp1 HG03831.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0076 a0015c0018t0076	a0015c0018t0076g0106 a0015c0018t0076g0106	1	378	0.0027	c.425 others(4): Show c.4258G>A	p.Glu others(7): Show p.Glu1420Lys	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	4434/9915	4258/5706	1420/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42303121	A A	G G	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0023 a0023	a0023c0030 a0023c0030	a0023c0030t0084 a0023c0030t0084	a0023c0030t0084g0193 a0023c0030t0084g0193	1	378	0.0027	c.437 others(4): Show c.4375A>G	p.Thr others(7): Show p.Thr1459Ala	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	4551/9915	4375/5706	1459/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42303572	A A	C C	missense_variant missense_variant	MODERATE	HG03831.hp1 HG03831.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0076 a0015c0018t0076	a0015c0018t0076g0106 a0015c0018t0076g0106	1	378	0.0027	c.482 others(4): Show c.4826A>C	p.Gln others(7): Show p.Gln1609Pro	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	5002/9915	4826/5706	1609/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42303615	T T	G G	missense_variant missense_variant	MODERATE	HG02735.hp1 HG02735.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0078 a0014c0023t0078	a0014c0023t0078g0199 a0014c0023t0078g0199	1	378	0.0027	c.486 others(4): Show c.4869T>G	p.Phe others(7): Show p.Phe1623Leu	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	5045/9915	4869/5706	1623/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42303622	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02965.hp1 HG01109.hp1 HG02965.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0011 a0009c0011t0011	a0009c0011t0011g0117 a0009c0011t0011g0120 a0009c0011t0011g0117 a0009c0011t0011g0120	2	378	0.0053	c.487 others(4): Show c.4876C>T	p.Arg others(7): Show p.Arg1626Cys	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	5052/9915	4876/5706	1626/1901	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42303713	C C	T T	missense_variant missense_variant	MODERATE	NA19070.hp2 NA19070.hp2	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0027 a0016c0029t0027	a0016c0029t0027g0045 a0016c0029t0027g0045	1	378	0.0027	c.496 others(4): Show c.4967C>T	p.Ala others(7): Show p.Ala1656Val	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	8/13	5143/9915	4967/5706	1656/1901	chr13	TogoVar
AKAP12_chr6_151234967_151363559	151240595	C C	G G	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02080.hp2 HG02040.hp2 HG02080.hp2	a0025 a0026 a0025 a0026	a0025c0069 a0026c0070 a0025c0069 a0026c0070	a0025c0069t0003 a0026c0070t0001 a0025c0069t0003 a0026c0070t0001	a0025c0069t0003g0065 a0026c0070t0001g0062 a0025c0069t0003g0065 a0026c0070t0001g0062	2	316	0.0063	c.33C others(2): Show c.33C>G	p.Ser others(5): Show p.Ser11Arg	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	2/5	305/8466	33/5349	11/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151305798	G G	A A	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03834.hp2 HG04199.hp1 HG03669.hp1 HG03834.hp2 HG04199.hp1	a0041 a0042 a0043 a0041 a0042 a0043	a0041c0033 a0042c0034 a0043c0032 a0041c0033 a0042c0034 a0043c0032	a0041c0033t0003 a0042c0034t0004 a0043c0032t0002 a0041c0033t0003 a0042c0034t0004 a0043c0032t0002	a0041c0033t0003g0081 a0042c0034t0004g0101 a0043c0032t0002g0234 a0041c0033t0003g0081 a0042c0034t0004g0101 a0043c0032t0002g0234	3	316	0.0095	c.214 others(3): Show c.214G>A	p.Asp others(5): Show p.Asp72Asn	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	3/5	486/8466	214/5349	72/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151348740	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(209): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(27): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0018 a0019 a0020 a0021 a0022 a0023 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0041 a0042	a0001c0002 a0001c0003 a0001c0011 others(48): Show a0001c0002 a0001c0003 a0001c0011 a0001c0012 a0001c0052 a0001c0055 a0001c0067 a0001c0071 a0003c0004 a0003c0008 a0003c0031 a0004c0007 a0004c0013 a0004c0056 a0005c0006 a0005c0046 a0005c0063 a0006c0009 a0006c0045 a0006c0062 a0007c0010 a0007c0065 a0008c0017 a0008c0044 a0009c0019 a0009c0057 a0010c0027 a0010c0029 a0012c0018 a0018c0024 a0019c0025 a0020c0047 a0020c0048 a0021c0051 a0021c0066 a0022c0026 a0023c0028 a0025c0069 a0026c0070 a0027c0064 a0028c0068 a0029c0054 a0030c0053 a0031c0050 a0032c0058 a0033c0059 a0034c0049 a0035c0060 a0036c0043 a0041c0033 a0042c0034	a0001c0002t0001 a0001c0002t0014 a0001c0002t0015 others(70): Show a0001c0002t0001 a0001c0002t0014 a0001c0002t0015 a0001c0002t0020 a0001c0002t0021 a0001c0003t0001 a0001c0003t0015 a0001c0003t0021 a0001c0003t0037 a0001c0011t0001 a0001c0011t0033 a0001c0012t0001 a0001c0012t0020 a0001c0052t0001 a0001c0055t0001 a0001c0067t0001 a0001c0071t0001 a0003c0004t0003 a0003c0004t0007 a0003c0004t0042 a0003c0008t0003 a0003c0031t0003 a0003c0031t0007 a0004c0007t0004 a0004c0013t0004 a0004c0013t0030 a0004c0056t0004 a0005c0006t0001 a0005c0006t0028 a0005c0046t0014 a0005c0063t0001 a0006c0009t0006 a0006c0009t0018 a0006c0009t0024 a0006c0045t0011 a0006c0062t0006 a0007c0010t0008 a0007c0010t0017 a0007c0010t0029 a0007c0065t0008 a0008c0017t0002 a0008c0017t0010 a0008c0017t0038 a0008c0044t0034 a0009c0019t0001 a0009c0057t0001 a0010c0027t0002 a0010c0029t0002 a0012c0018t0004 a0018c0024t0006 a0019c0025t0022 a0019c0025t0026 a0020c0047t0011 a0020c0048t0011 a0021c0051t0004 a0021c0066t0004 a0022c0026t0011 a0023c0028t0027 a0023c0028t0039 a0025c0069t0003 a0026c0070t0001 a0027c0064t0003 a0028c0068t0001 a0029c0054t0001 a0030c0053t0019 a0031c0050t0031 a0032c0058t0043 a0033c0059t0001 a0034c0049t0001 a0035c0060t0001 a0036c0043t0009 a0041c0033t0003 a0042c0034t0004	a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0050 others(209): Show a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0069 a0001c0002t0001g0076 a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0115 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0138 a0001c0002t0001g0147 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0179 a0001c0002t0001g0187 a0001c0002t0001g0194 a0001c0002t0001g0205 a0001c0002t0001g0215 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0239 a0001c0002t0001g0248 a0001c0002t0001g0256 a0001c0002t0001g0259 a0001c0002t0001g0266 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0291 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0014g0236 a0001c0002t0014g0249 a0001c0002t0014g0276 a0001c0002t0015g0105 a0001c0002t0015g0110 a0001c0002t0015g0200 a0001c0002t0020g0129 a0001c0002t0021g0092 a0001c0003t0001g0097 a0001c0003t0001g0102 a0001c0003t0001g0113 a0001c0003t0001g0118 a0001c0003t0001g0120 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0151 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0288 a0001c0003t0001g0315 a0001c0003t0015g0096 a0001c0003t0021g0201 a0001c0003t0037g0314 a0001c0011t0001g0040 a0001c0011t0001g0235 a0001c0011t0001g0260 a0001c0011t0001g0267 a0001c0011t0001g0272 a0001c0011t0033g0080 a0001c0012t0001g0139 a0001c0012t0001g0192 a0001c0012t0001g0208 a0001c0012t0020g0270 a0001c0052t0001g0093 a0001c0055t0001g0061 a0001c0067t0001g0088 a0001c0071t0001g0004 a0003c0004t0003g0006 a0003c0004t0003g0007 a0003c0004t0003g0008 a0003c0004t0003g0051 a0003c0004t0003g0068 a0003c0004t0003g0074 a0003c0004t0003g0103 a0003c0004t0003g0189 a0003c0004t0003g0202 a0003c0004t0003g0231 a0003c0004t0003g0278 a0003c0004t0003g0306 a0003c0004t0007g0159 a0003c0004t0007g0193 a0003c0004t0007g0204 a0003c0004t0007g0232 a0003c0004t0007g0241 a0003c0004t0042g0258 a0003c0008t0003g0022 a0003c0008t0003g0048 a0003c0008t0003g0072 a0003c0008t0003g0075 a0003c0008t0003g0131 a0003c0008t0003g0274 a0003c0008t0003g0302 a0003c0008t0003g0309 a0003c0031t0003g0219 a0003c0031t0007g0269 a0004c0007t0004g0091 a0004c0007t0004g0098 a0004c0007t0004g0099 a0004c0007t0004g0106 a0004c0007t0004g0109 a0004c0007t0004g0165 a0004c0007t0004g0188 a0004c0007t0004g0213 a0004c0007t0004g0228 a0004c0007t0004g0237 a0004c0013t0004g0014 a0004c0013t0004g0095 a0004c0013t0004g0253 a0004c0013t0030g0087 a0004c0056t0004g0197 a0005c0006t0001g0012 a0005c0006t0001g0035 a0005c0006t0001g0039 a0005c0006t0001g0041 a0005c0006t0001g0119 a0005c0006t0001g0184 a0005c0006t0001g0210 a0005c0006t0001g0245 a0005c0006t0001g0307 a0005c0006t0028g0117 a0005c0046t0014g0126 a0005c0063t0001g0013 a0006c0009t0006g0015 a0006c0009t0006g0031 a0006c0009t0006g0071 a0006c0009t0006g0082 a0006c0009t0018g0178 a0006c0009t0018g0180 a0006c0009t0024g0262 a0006c0045t0011g0034 a0006c0062t0006g0116 a0007c0010t0008g0003 a0007c0010t0008g0077 a0007c0010t0008g0183 a0007c0010t0008g0212 a0007c0010t0017g0033 a0007c0010t0017g0122 a0007c0010t0029g0005 a0007c0065t0008g0036 a0008c0017t0002g0293 a0008c0017t0010g0292 a0008c0017t0038g0294 a0008c0044t0034g0009 a0009c0019t0001g0066 a0009c0019t0001g0140 a0009c0019t0001g0308 a0009c0057t0001g0108 a0010c0027t0002g0185 a0010c0027t0002g0186 a0010c0029t0002g0263 a0010c0029t0002g0280 a0012c0018t0004g0128 a0012c0018t0004g0303 a0012c0018t0004g0304 a0018c0024t0006g0206 a0018c0024t0006g0247 a0019c0025t0022g0016 a0019c0025t0026g0312 a0020c0047t0011g0112 a0020c0048t0011g0121 a0021c0051t0004g0268 a0021c0066t0004g0199 a0022c0026t0011g0002 a0022c0026t0011g0052 a0023c0028t0027g0257 a0023c0028t0039g0070 a0025c0069t0003g0065 a0026c0070t0001g0062 a0027c0064t0003g0209 a0028c0068t0001g0316 a0029c0054t0001g0195 a0030c0053t0019g0196 a0031c0050t0031g0107 a0032c0058t0043g0177 a0033c0059t0001g0250 a0034c0049t0001g0277 a0035c0060t0001g0132 a0036c0043t0009g0085 a0041c0033t0003g0081 a0042c0034t0004g0101	212	316	0.6709	c.349 others(3): Show c.349A>G	p.Lys others(6): Show p.Lys117Glu	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	621/8466	349/5349	117/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151348890	G G	C C	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0036 a0036	a0036c0043 a0036c0043	a0036c0043t0009 a0036c0043t0009	a0036c0043t0009g0085 a0036c0043t0009g0085	1	316	0.0032	c.499 others(3): Show c.499G>C	p.Ala others(6): Show p.Ala167Pro	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	771/8466	499/5349	167/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151348951	A A	G G	missense_variant missense_variant	MODERATE	NA19084.hp1 NA19084.hp1	a0040 a0040	a0040c0061 a0040c0061	a0040c0061t0010 a0040c0061t0010	a0040c0061t0010g0305 a0040c0061t0010g0305	1	316	0.0032	c.560 others(3): Show c.560A>G	p.Lys others(6): Show p.Lys187Arg	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	832/8466	560/5349	187/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151349037	A A	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(159): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02074.hp2 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19079.hp1 NA19083.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0009 others(24): Show a0001 a0004 a0009 a0010 a0011 a0012 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0039 a0042	a0001c0002 a0001c0003 a0001c0011 others(40): Show a0001c0002 a0001c0003 a0001c0011 a0001c0012 a0001c0052 a0001c0055 a0001c0067 a0001c0071 a0004c0007 a0004c0013 a0004c0056 a0009c0019 a0009c0057 a0010c0027 a0010c0029 a0011c0021 a0011c0030 a0012c0018 a0015c0022 a0015c0040 a0016c0016 a0017c0023 a0017c0042 a0019c0025 a0020c0047 a0020c0048 a0021c0051 a0021c0066 a0022c0026 a0023c0028 a0024c0020 a0026c0070 a0028c0068 a0029c0054 a0030c0053 a0031c0050 a0032c0058 a0033c0059 a0034c0049 a0035c0060 a0036c0043 a0039c0041 a0042c0034	a0001c0002t0001 a0001c0002t0014 a0001c0002t0015 others(56): Show a0001c0002t0001 a0001c0002t0014 a0001c0002t0015 a0001c0002t0020 a0001c0002t0021 a0001c0003t0001 a0001c0003t0015 a0001c0003t0021 a0001c0003t0037 a0001c0011t0001 a0001c0011t0033 a0001c0012t0001 a0001c0012t0020 a0001c0052t0001 a0001c0055t0001 a0001c0067t0001 a0001c0071t0001 a0004c0007t0004 a0004c0013t0004 a0004c0013t0030 a0004c0056t0004 a0009c0019t0001 a0009c0057t0001 a0010c0027t0002 a0010c0029t0002 a0011c0021t0022 a0011c0021t0049 a0011c0030t0016 a0012c0018t0004 a0015c0022t0035 a0015c0022t0036 a0015c0040t0041 a0016c0016t0009 a0016c0016t0044 a0017c0023t0001 a0017c0023t0023 a0017c0042t0001 a0019c0025t0022 a0019c0025t0026 a0020c0047t0011 a0020c0048t0011 a0021c0051t0004 a0021c0066t0004 a0022c0026t0011 a0023c0028t0027 a0023c0028t0039 a0024c0020t0009 a0026c0070t0001 a0028c0068t0001 a0029c0054t0001 a0030c0053t0019 a0031c0050t0031 a0032c0058t0043 a0033c0059t0001 a0034c0049t0001 a0035c0060t0001 a0036c0043t0009 a0039c0041t0040 a0042c0034t0004	a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0050 others(159): Show a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0069 a0001c0002t0001g0076 a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0115 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0138 a0001c0002t0001g0147 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0179 a0001c0002t0001g0187 a0001c0002t0001g0194 a0001c0002t0001g0205 a0001c0002t0001g0215 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0239 a0001c0002t0001g0248 a0001c0002t0001g0256 a0001c0002t0001g0259 a0001c0002t0001g0266 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0291 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0014g0236 a0001c0002t0014g0249 a0001c0002t0014g0276 a0001c0002t0015g0105 a0001c0002t0015g0110 a0001c0002t0015g0200 a0001c0002t0020g0129 a0001c0002t0021g0092 a0001c0003t0001g0097 a0001c0003t0001g0102 a0001c0003t0001g0113 a0001c0003t0001g0118 a0001c0003t0001g0120 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0151 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0288 a0001c0003t0001g0315 a0001c0003t0015g0096 a0001c0003t0021g0201 a0001c0003t0037g0314 a0001c0011t0001g0040 a0001c0011t0001g0235 a0001c0011t0001g0260 a0001c0011t0001g0267 a0001c0011t0001g0272 a0001c0011t0033g0080 a0001c0012t0001g0139 a0001c0012t0001g0192 a0001c0012t0001g0208 a0001c0012t0020g0270 a0001c0052t0001g0093 a0001c0055t0001g0061 a0001c0067t0001g0088 a0001c0071t0001g0004 a0004c0007t0004g0091 a0004c0007t0004g0098 a0004c0007t0004g0099 a0004c0007t0004g0106 a0004c0007t0004g0109 a0004c0007t0004g0165 a0004c0007t0004g0188 a0004c0007t0004g0213 a0004c0007t0004g0228 a0004c0007t0004g0237 a0004c0013t0004g0014 a0004c0013t0004g0095 a0004c0013t0004g0253 a0004c0013t0030g0087 a0004c0056t0004g0197 a0009c0019t0001g0066 a0009c0019t0001g0140 a0009c0019t0001g0308 a0009c0057t0001g0108 a0010c0027t0002g0185 a0010c0027t0002g0186 a0010c0029t0002g0263 a0010c0029t0002g0280 a0011c0021t0022g0024 a0011c0021t0049g0019 a0011c0030t0016g0017 a0011c0030t0016g0114 a0012c0018t0004g0128 a0012c0018t0004g0303 a0012c0018t0004g0304 a0015c0022t0035g0289 a0015c0022t0036g0296 a0015c0040t0041g0029 a0016c0016t0009g0111 a0016c0016t0009g0246 a0016c0016t0044g0171 a0017c0023t0001g0190 a0017c0023t0023g0053 a0017c0042t0001g0144 a0019c0025t0022g0016 a0019c0025t0026g0312 a0020c0047t0011g0112 a0020c0048t0011g0121 a0021c0051t0004g0268 a0021c0066t0004g0199 a0022c0026t0011g0002 a0022c0026t0011g0052 a0023c0028t0027g0257 a0023c0028t0039g0070 a0024c0020t0009g0030 a0024c0020t0009g0181 a0026c0070t0001g0062 a0028c0068t0001g0316 a0029c0054t0001g0195 a0030c0053t0019g0196 a0031c0050t0031g0107 a0032c0058t0043g0177 a0033c0059t0001g0250 a0034c0049t0001g0277 a0035c0060t0001g0132 a0036c0043t0009g0085 a0039c0041t0040g0310 a0042c0034t0004g0101	162	316	0.5127	c.646 others(3): Show c.646A>C	p.Lys others(6): Show p.Lys216Gln	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	918/8466	646/5349	216/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151349152	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02257.hp2 HG02486.hp2 others(5): Show HG02145.hp1 HG02257.hp2 HG02486.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 NA19030.hp2	a0007 a0007	a0007c0010 a0007c0065 a0007c0010 a0007c0065	a0007c0010t0008 a0007c0010t0017 a0007c0010t0029 others(1): Show a0007c0010t0008 a0007c0010t0017 a0007c0010t0029 a0007c0065t0008	a0007c0010t0008g0003 a0007c0010t0008g0077 a0007c0010t0008g0183 others(5): Show a0007c0010t0008g0003 a0007c0010t0008g0077 a0007c0010t0008g0183 a0007c0010t0008g0212 a0007c0010t0017g0033 a0007c0010t0017g0122 a0007c0010t0029g0005 a0007c0065t0008g0036	8	316	0.0253	c.761 others(3): Show c.761C>T	p.Pro others(6): Show p.Pro254Leu	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	1033/8466	761/5349	254/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151349203	A A	G G	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0035 a0035	a0035c0060 a0035c0060	a0035c0060t0001 a0035c0060t0001	a0035c0060t0001g0132 a0035c0060t0001g0132	1	316	0.0032	c.812 others(3): Show c.812A>G	p.Glu others(6): Show p.Glu271Gly	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	1084/8466	812/5349	271/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151349279	C C	A A	missense_variant missense_variant	MODERATE	HG03710.hp2 HG03710.hp2	a0034 a0034	a0034c0049 a0034c0049	a0034c0049t0001 a0034c0049t0001	a0034c0049t0001g0277 a0034c0049t0001g0277	1	316	0.0032	c.888 others(3): Show c.888C>A	p.Phe others(6): Show p.Phe296Leu	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	1160/8466	888/5349	296/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151350230	C C	A A	missense_variant missense_variant	MODERATE	HG02717.hp2 HG06807.hp1 HG02717.hp2 HG06807.hp1	a0024 a0024	a0024c0020 a0024c0020	a0024c0020t0009 a0024c0020t0009	a0024c0020t0009g0030 a0024c0020t0009g0181 a0024c0020t0009g0030 a0024c0020t0009g0181	2	316	0.0063	c.183 others(4): Show c.1839C>A	p.Phe others(6): Show p.Phe613Leu	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	2111/8466	1839/5349	613/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151350264	C C	T T	missense_variant missense_variant	MODERATE	HG00642.hp2 HG00642.hp2	a0033 a0033	a0033c0059 a0033c0059	a0033c0059t0001 a0033c0059t0001	a0033c0059t0001g0250 a0033c0059t0001g0250	1	316	0.0032	c.187 others(4): Show c.1873C>T	p.Arg others(6): Show p.Arg625Trp	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	2145/8466	1873/5349	625/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151350499	G G	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0032 a0032	a0032c0058 a0032c0058	a0032c0058t0043 a0032c0058t0043	a0032c0058t0043g0177 a0032c0058t0043g0177	1	316	0.0032	c.210 others(4): Show c.2108G>T	p.Gly others(6): Show p.Gly703Val	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	2380/8466	2108/5349	703/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151350612	A A	C C	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03942.hp1 HG03491.hp1 HG03942.hp1	a0021 a0021	a0021c0051 a0021c0066 a0021c0051 a0021c0066	a0021c0051t0004 a0021c0066t0004 a0021c0051t0004 a0021c0066t0004	a0021c0051t0004g0268 a0021c0066t0004g0199 a0021c0051t0004g0268 a0021c0066t0004g0199	2	316	0.0063	c.222 others(4): Show c.2221A>C	p.Ser others(6): Show p.Ser741Arg	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	2493/8466	2221/5349	741/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151351050	A A	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG01106.hp1 HG01258.hp1 others(1): Show HG00323.hp1 HG01106.hp1 HG01258.hp1 HG01975.hp1	a0009 a0009	a0009c0019 a0009c0057 a0009c0019 a0009c0057	a0009c0019t0001 a0009c0057t0001 a0009c0019t0001 a0009c0057t0001	a0009c0019t0001g0066 a0009c0019t0001g0140 a0009c0019t0001g0308 others(1): Show a0009c0019t0001g0066 a0009c0019t0001g0140 a0009c0019t0001g0308 a0009c0057t0001g0108	4	316	0.0127	c.265 others(4): Show c.2659A>T	p.Ser others(6): Show p.Ser887Cys	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	2931/8466	2659/5349	887/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151351150	A A	G G	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01123.hp2 HG01169.hp2 others(22): Show HG01099.hp1 HG01123.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01884.hp2 HG02280.hp2 HG02486.hp1 HG02723.hp2 HG02735.hp2 HG02970.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18977.hp2 NA19043.hp2 homoSapiens_chm13v2.hp1	a0004 a0012 a0021 others(4): Show a0004 a0012 a0021 a0023 a0031 a0032 a0042	a0004c0007 a0004c0013 a0004c0056 others(7): Show a0004c0007 a0004c0013 a0004c0056 a0012c0018 a0021c0051 a0021c0066 a0023c0028 a0031c0050 a0032c0058 a0042c0034	a0004c0007t0004 a0004c0013t0004 a0004c0013t0030 others(9): Show a0004c0007t0004 a0004c0013t0004 a0004c0013t0030 a0004c0056t0004 a0012c0018t0004 a0021c0051t0004 a0021c0066t0004 a0023c0028t0027 a0023c0028t0039 a0031c0050t0031 a0032c0058t0043 a0042c0034t0004	a0004c0007t0004g0091 a0004c0007t0004g0098 a0004c0007t0004g0099 others(22): Show a0004c0007t0004g0091 a0004c0007t0004g0098 a0004c0007t0004g0099 a0004c0007t0004g0106 a0004c0007t0004g0109 a0004c0007t0004g0165 a0004c0007t0004g0188 a0004c0007t0004g0213 a0004c0007t0004g0228 a0004c0007t0004g0237 a0004c0013t0004g0014 a0004c0013t0004g0095 a0004c0013t0004g0253 a0004c0013t0030g0087 a0004c0056t0004g0197 a0012c0018t0004g0128 a0012c0018t0004g0303 a0012c0018t0004g0304 a0021c0051t0004g0268 a0021c0066t0004g0199 a0023c0028t0027g0257 a0023c0028t0039g0070 a0031c0050t0031g0107 a0032c0058t0043g0177 a0042c0034t0004g0101	25	316	0.0791	c.275 others(4): Show c.2759A>G	p.Glu others(6): Show p.Glu920Gly	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	3031/8466	2759/5349	920/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151351438	C C	T T	missense_variant missense_variant	MODERATE	HG01261.hp2 HG01261.hp2	a0031 a0031	a0031c0050 a0031c0050	a0031c0050t0031 a0031c0050t0031	a0031c0050t0031g0107 a0031c0050t0031g0107	1	316	0.0032	c.304 others(4): Show c.3047C>T	p.Thr others(7): Show p.Thr1016Ile	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	3319/8466	3047/5349	1016/1782	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151351504	G G	A A	missense_variant missense_variant	MODERATE	NA19079.hp2 NA19079.hp2	a0027 a0027	a0027c0064 a0027c0064	a0027c0064t0003 a0027c0064t0003	a0027c0064t0003g0209 a0027c0064t0003g0209	1	316	0.0032	c.311 others(4): Show c.3113G>A	p.Arg others(7): Show p.Arg1038Gln	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	4/5	3385/8466	3113/5349	1038/1782	chr6	TogoVar

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