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 per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
OR8B3_chr11_124390534_124404024	124396801	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG01167.hp2 HG01169.hp1 HG01255.hp1 others(8): Show HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01346.hp1 HG01496.hp2 HG03017.hp2 HG03704.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA20805.hp2	a0005 a0005	a0005c0005 a0005c0020 a0005c0005 a0005c0020	a0005c0005t0001 a0005c0020t0001 a0005c0005t0001 a0005c0020t0001	a0005c0005t0001g0007 a0005c0020t0001g0042 a0005c0005t0001g0007 a0005c0020t0001g0042	11	452	0.0243	1	c.550 others(4): Show c.550dupC	p.Leu others(5): Show p.Leu184fs	OR8B3	ENSG00000284609.2	transcript	ENST00000641139.1	protein_coding	2/2	902/2170	550/942	184/313		chr11	TogoVar
OR8G1_chr11_124236095_124259364	124250452	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0004c0006 a0006c0010	a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(20): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0002t0027 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0003t0002 a0001c0003t0026 a0001c0003t0038 a0001c0003t0039 a0001c0003t0040 a0001c0012t0003 a0004c0006t0003 a0004c0006t0014 a0004c0006t0036 a0004c0006t0041 a0006c0010t0002	a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(42): Show a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0047 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0065 a0001c0002t0005g0005 a0001c0002t0005g0059 a0001c0002t0007g0009 a0001c0002t0012g0013 a0001c0002t0018g0029 a0001c0002t0018g0045 a0001c0002t0019g0030 a0001c0002t0019g0067 a0001c0002t0020g0022 a0001c0002t0025g0058 a0001c0002t0025g0060 a0001c0002t0027g0066 a0001c0002t0034g0046 a0001c0002t0035g0048 a0001c0002t0037g0068 a0001c0003t0002g0002 a0001c0003t0002g0016 a0001c0003t0002g0021 a0001c0003t0002g0044 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0057 a0001c0003t0026g0002 a0001c0003t0038g0051 a0001c0003t0039g0016 a0001c0003t0040g0002 a0001c0012t0003g0064 a0004c0006t0003g0056 a0004c0006t0014g0014 a0004c0006t0036g0014 a0004c0006t0041g0055 a0006c0010t0002g0002	217	430	0.5047	0	c.777 others(3): Show c.777C>G	p.Tyr others(4): Show p.Tyr259*	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding	3/3	1143/5055	777/936	259/311		chr11	TogoVar
OR8G1_chr11_124236095_124259364	124250538	TGATTTAT others(844): Show TGATTTATAGCCTGAGGAATAAAGATGTCCATGTTTCCCTGAAGAAAATG CTACAGAGAAGAACATTATTGTAAACAGTAATAATAAGAAGATGATATAT TAATCCTAAGTAGTGGACTGTTACATTGTATGAATGGATGTCTTTCACTT TAATGCATCTGTCAATAATTTTTACCATTTGGTGAGATTATATTACCATT ATTTTTTCATTTCATGACCCTTTGATGTCATTTCCCATGTGGGGTTTTAA CTCATATGTATCAATGAGACACAAATTAATATAAATACTAAAATCGACAT GAGTACATAGACTCATTAATGCCAGCCCCATGTTCTTACCTCTTTTCTTT TACACAATTGATAAAATTCAGCTCAGTTCTCAACCATAATGAAAATACCA TCTTCCAAAAGTGATACCAATCTCCCTTATTCTGTCTTTTCAATAACAAC ATAAATTATTGCAATATGATAGCTGTAATTTTAGCCTGCAGCAATCTCTT TTCTGCCTTATTCATCTATTTACCTCATTTGTCTGCTGTATTTCTTCTTT AGCAACATAATCAAAATTTCAGAATATAAGTTACATATCCGTGTATGTGT TATAATTGTGCAATCCAATATATCATCTGCTTTGCATTTTCCTATTCTAG TTTGTACTTGCCTTCAACCTACACTGGACTTCAGTCTTCATGAAGATTCC CCCGTACATGTGGTTTATTGCCACGTCTCCAGCGTCTATCATAGTTCTTG CCACCTTAGGTCCTTGAAAGCTTTTTTATTATTTCCTCATTTAAGCTAAG TATAGGAAAGCCATATGTATGTCATACTTACTTTATCTATTTATCTCTCG AA	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0004c0006 a0006c0010	a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(20): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0002t0027 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0003t0002 a0001c0003t0026 a0001c0003t0038 a0001c0003t0039 a0001c0003t0040 a0001c0012t0003 a0004c0006t0003 a0004c0006t0014 a0004c0006t0036 a0004c0006t0041 a0006c0010t0002	a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(42): Show a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0047 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0065 a0001c0002t0005g0005 a0001c0002t0005g0059 a0001c0002t0007g0009 a0001c0002t0012g0013 a0001c0002t0018g0029 a0001c0002t0018g0045 a0001c0002t0019g0030 a0001c0002t0019g0067 a0001c0002t0020g0022 a0001c0002t0025g0058 a0001c0002t0025g0060 a0001c0002t0027g0066 a0001c0002t0034g0046 a0001c0002t0035g0048 a0001c0002t0037g0068 a0001c0003t0002g0002 a0001c0003t0002g0016 a0001c0003t0002g0021 a0001c0003t0002g0044 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0057 a0001c0003t0026g0002 a0001c0003t0038g0051 a0001c0003t0039g0016 a0001c0003t0040g0002 a0001c0012t0003g0064 a0004c0006t0003g0056 a0004c0006t0014g0014 a0004c0006t0036g0014 a0004c0006t0041g0055 a0006c0010t0002g0002	217	430	0.5047	-851	c.866 others(8): Show c.866_*780del	p.Ile others(5): Show p.Ile289fs	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding	3/3	1232/5055	866/936	289/311	INFO_REALIGN_3_PRIME	chr11	TogoVar
OR8I2_chr11_56088308_56099240	56093801	GT GT	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00323.hp1 HG01433.hp2 others(5): Show HG00099.hp1 HG00323.hp1 HG01433.hp2 HG01496.hp1 HG02818.hp2 HG02965.hp1 HG03139.hp2 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0004 a0003c0003 a0003c0004	a0003c0003t0000 a0003c0004t0000 a0003c0003t0000 a0003c0004t0000	a0003c0003t0000g0000 a0003c0004t0000g0000 a0003c0003t0000g0000 a0003c0004t0000g0000	8	458	0.0175	-1	c.497 others(4): Show c.497delT	p.Leu others(5): Show p.Leu166fs	OR8I2	ENSG00000172154.11	transcript	ENST00000302124.8	protein_coding	1/1	497/933	497/933	166/310	INFO_REALIGN_3_PRIME	chr11	TogoVar
OR8I2_chr11_56088308_56099240	56093830	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00323.hp1 HG01433.hp2 others(5): Show HG00099.hp1 HG00323.hp1 HG01433.hp2 HG01496.hp1 HG02818.hp2 HG02965.hp1 HG03139.hp2 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0004 a0003c0003 a0003c0004	a0003c0003t0000 a0003c0004t0000 a0003c0003t0000 a0003c0004t0000	a0003c0003t0000g0000 a0003c0004t0000g0000 a0003c0003t0000g0000 a0003c0004t0000g0000	8	458	0.0175	-1	c.524 others(4): Show c.524delA	p.His others(5): Show p.His175fs	OR8I2	ENSG00000172154.11	transcript	ENST00000302124.8	protein_coding	1/1	524/933	524/933	175/310		chr11	TogoVar
OR8I2_chr11_56088308_56099240	56094174	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG01433.hp2 others(5): Show HG00099.hp1 HG00323.hp1 HG01433.hp2 HG01496.hp1 HG02818.hp2 HG02965.hp1 HG03139.hp2 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0004 a0003c0003 a0003c0004	a0003c0003t0000 a0003c0004t0000 a0003c0003t0000 a0003c0004t0000	a0003c0003t0000g0000 a0003c0004t0000g0000 a0003c0003t0000g0000 a0003c0004t0000g0000	8	458	0.0175	0	c.867 others(3): Show c.867C>G	p.Tyr others(4): Show p.Tyr289*	OR8I2	ENSG00000172154.11	transcript	ENST00000302124.8	protein_coding	1/1	867/933	867/933	289/310		chr11	TogoVar
OR8K1_chr11_56341039_56351998	56346040	T T	C C	start_lost start_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012	a0001c0001t0000 a0001c0002t0000 a0001c0004t0000 others(8): Show a0001c0001t0000 a0001c0002t0000 a0001c0004t0000 a0001c0005t0000 a0001c0006t0000 a0001c0007t0000 a0001c0008t0000 a0001c0009t0000 a0001c0010t0000 a0001c0011t0000 a0001c0012t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0004t0000g0000 others(8): Show a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0004t0000g0000 a0001c0005t0000g0000 a0001c0006t0000g0000 a0001c0007t0000g0000 a0001c0008t0000g0000 a0001c0009t0000g0000 a0001c0010t0000g0000 a0001c0011t0000g0000 a0001c0012t0000g0000	351	437	0.8032	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	OR8K1	ENSG00000150261.5	transcript	ENST00000279783.5	protein_coding	1/1	2/960	2/960	1/319		chr11	TogoVar
OR8U1_chr11_56370624_56381553	56376094	A A	ATTTCACA others(7599): Show ATTTCACACCATCCTCACCTTCCGCCTCTCCTATTGCCACTCCAACATTG TCAACCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCA GACACTCGCTTCAAACAGCTATGGATTTTGGCCTGTGCTGGTATCACATT CATCTGCTCTGTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTG CCATCCTGAGGATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACC TGTAGCTCTCACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTT TATGTACTTACAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGG CCTCTGTCTTCTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTAC AGTCTCAGGAACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAA TAGAAACCATGCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGA CAAAAATGGGCATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAAC TATTGGAATACCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTG AAAAAATTATTCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATT TCATATGTAGAAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAA TGTATTTTTAAAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCT GCCAGGAATAGAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGT AAGAGTTCTTTAACAATATGTTAAGACTATTTTATAGTATATTTAAAATT AAATTTAATAATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGA GGTAATTTTTCTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTG ATTTTCACAATGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGG GTCGAGGCCAGGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCC TCACTCAAAAAATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGA GAGCCGGTGTTAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATT CATTAAGATCAAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTA TGGTTTTCTCTTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATC CCAAGTTAAATTACGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAA ATGTTTTGGGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAAT TTACTGATTTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGT GATAGCATTTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACT TCATCTCTCTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTA CTTTCATTATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAG CTAATAGTTGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTT TTAATTAGAGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGC TGAATTTATGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTT TTTATTTCCTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTA GAAATTTAATTTCTGATGTGTTAAATATGTACACACACAAACAGACACAC AGACATGCATTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAAC TTATCACCATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACA TACATACATACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTA TTATCATAATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAG AAATATACAATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATG TAGACTATATATACACAGACATATGACTATATCAATAATATGATGATACA TCAATAAATAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTC GTGTATTTCTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTG AAAGACATTCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATT ATCTTAATCTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATA TAATTTGACTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCA GTTTGGACATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCA TGTGTTAAACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATT TTTCACTGTCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATT TCTTGGTGTTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATG TTAATGCTTTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAG TATTTTCCCCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTT TACTGGTACACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCC CCAGAAGTCGCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCT GTTTTCTAGAATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATT CTGTCTTCAGCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTC ATTTCAGGTATTGTATTTTTTTCTCCAAATATTCTTTTTTTTCCAAGAAA AAATTGCTATAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATC AATATATTAGAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTG TACCTTGATAAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTAT TATTTTTTCAGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTAC ATGTGCACAACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGT TTTATCTCCAAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATT TTTTTCCATTTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTT TGTATCAAATGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGACGG TGTAAACTCAATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACA TATTTGGGGAATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACAC TATATTTGGGGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTC TTCCCTACCACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATT TTGCTTTTTCAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAAC AAAGAAATAACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAG TGACAGAAATTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCA AGATACTTTCTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAG GCAGCCACCATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAG AGGAGACAGAGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACT TTTGCGTCTCTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATC TAATCTTAATTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGG GAGTTAGAGCTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAG CAGATGCATTGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTA TGGCCACAGATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCA AGGAACTATAAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGA CACAGATGTTTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCA TGTCTTAAATTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTT TGGAAGATATGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTT AAAAATAAATCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATT CAAATAAATAAATAAATAAATAACAAGAACAACAATATGAACAAGTAAAA TATGAATAAATAAATAGCACTATTAATAATAAAATTATCAATCAATAAAT AGCATTCCAAAAATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGA GCTATAGATCTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTC TAGCCTGCTTTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTT TACTTGCATCATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAG TGACTGTCAAAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGG AAATAGGAACACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAAT TAAGGTCAAGATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAA CTTTATAACATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTA TAATTTTATTTCTGTTATATATGTATGCGTTATATAAAATATATTTCTTA TTGGTATGAGATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATT AGGCTGCTTGGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACAT TAAAACTGTCCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAA CCAAGTCATCAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATT AATTGTGAACCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAAT TATTAATTTCCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTA ATTAAAATTTCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAA AATATATGAAAACAGATGTTTGCCATATATGTGATATAGGTAAATGAATT ATGTATACAATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCAT GAAAACTAGAAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAG CTCTCCATTCGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACAT ATAAAGCCTGGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAA TAAGGTTTTTAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGA TGTTGCTGGAATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTC ATGTATAATATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGA TAAAGTGGTACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACA GTGCAGCCTTACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAA ATTGTTGCTTAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACC AAAAAGTCTTTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAG CAGCAGCAGCAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGA AAGTGGTAGAAACATACATGCACACATACTCAAAAATATTCATTTTTGAT TTTCATGTCCATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCC CCTGCTGTTTCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTT AATTTATTATTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACAC TTTTCTCTGTATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTA TACCTATCTACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTT TGTATTTATTTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTA CCTTGACCACCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTT TAAAATTCATTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACAT ACGTGTAACTTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTA TTTTCTAATTTAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTT CTTTTGATAGTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATA GATTAGGAAGCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTAT GTAACTAGAGAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAG AGTTCTTTCCACTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATT TTTCAATAGTTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCT AAGTTTGTCAAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAAC TTACATTCACTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAG AATGAAATCATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTAT CTTAGTGAAGTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAG CGGGAGCTAAATAATATGTACACATGGACATAGTATGTAAAGTACCTTTA TAAATATAATAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAAC CTCTTTTACCTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGC TAATAATTTTAATACTAAATTAGCACTTACATATTAACAATAAAATTGAT TTTAAGGATATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTA AACTCTCCTCTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAA TTGCACCCAGGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGG AGTTGAAGATGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACA GTAGTAGGCAATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACT CAACACACCAATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCT GTTACTCTTCTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAA CAAAATAGTATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCT GGCCTTCATGACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACC GATATGTGGCCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCA GGAATCTGCATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGT TGCACTG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01496.hp1 HG01496.hp1	a0005 a0005	a0005c0064 a0005c0064	a0005c0064t0000 a0005c0064t0000	a0005c0064t0000g0000 a0005c0064t0000g0000	1	364	0.0028	7606	c.590 others(7613): Show c.590_591insATGGATTTTGGCCTGTGCTGGTATCACATTCATCTGCT CTGTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTGCCATCCTG AGGATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACCTGTAGCTC TCACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTTTATGTACT TACAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGGCCTCTGTC TTCTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTACAGTCTCAG GAACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAATAGAAACC ATGCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGACAAAAATG GGCATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAACTATTGGAA TACCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTGAAAAAATT ATTCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATTTCATATGT AGAAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAATGTATTTT TAAAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCTGCCAGGAA TAGAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGTAAGAGTTC TTTAACAATATGTTAAGACTATTTTATAGTATATTTAAAATTAAATTTAA TAATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGAGGTAATTT TTCTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTGATTTTCAC AATGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGGGTCGAGGC CAGGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCCTCACTCAA AAAATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGAGAGCCGGT GTTAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATTCATTAAGA TCAAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTATGGTTTTC TCTTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATCCCAAGTTA AATTACGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAAATGTTTTG GGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAATTTACTGAT TTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGTGATAGCAT TTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACTTCATCTCT CTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTACTTTCATT ATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAGCTAATAGT TGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTTTTAATTAG AGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGCTGAATTTA TGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTTTTTATTTC CTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAGAAATTTA ATTTCTGATGTGTTAAATATGTACACACACAAACAGACACACAGACATGC ATTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACTTATCACC ATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACATACATACA TACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTATTATCATA ATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGAAATATAC AATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGTAGACTAT ATATACACAGACATATGACTATATCAATAATATGATGATACATCAATAAA TAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCGTGTATTT CTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGAAAGACAT TCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTATCTTAAT CTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATATAATTTGA CTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAGTTTGGAC ATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCATGTGTTAA ACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATTTTTCACTG TCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTTCTTGGTG TTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGTTAATGCT TTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGTATTTTCC CCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTTACTGGTA CACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCCCAGAAGT CGCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTGTTTTCTA GAATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTCTGTCTTC AGCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCATTTCAGG TATTGTATTTTTTTCTCCAAATATTCTTTTTTTTCCAAGAAAAAATTGCT ATAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCAATATATT AGAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGTACCTTGA TAAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATTATTTTTT CAGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACATGTGCAC AACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTTTTATCTC CAAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTTTTTTCCA TTTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTTGTATCAA ATGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGACGGTGTAAACT CAATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACATATTTGGG GAATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACTATATTTG GGGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCTTCCCTAC CACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTTTGCTTTT TCAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACAAAGAAAT AACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGTGACAGAA ATTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAAGATACTT TCTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGGCAGCCAC CATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGAGGAGACA GAGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTTTTGCGTC TCTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCTAATCTTA ATTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGGAGTTAGA GCTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGCAGATGCA TTGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTATGGCCACA GATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAAGGAACTA TAAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGACACAGATG TTTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCATGTCTTAA ATTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTTGGAAGAT ATGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTAAAAATAA ATCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTCAAATAAA TAAATAAATAAATAACAAGAACAACAATATGAACAAGTAAAATATGAATA AATAAATAGCACTATTAATAATAAAATTATCAATCAATAAATAGCATTCC AAAAATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAGCTATAGA TCTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCTAGCCTGC TTTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTTACTTGCA TCATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGTGACTGTC AAAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGAAATAGGA ACACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATTAAGGTCA AGATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAACTTTATAA CATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTATAATTTTA TTTCTGTTATATATGTATGCGTTATATAAAATATATTTCTTATTGGTATG AGATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTAGGCTGCT TGGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATTAAAACTG TCCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAACCAAGTCA TCAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTAATTGTGA ACCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATTATTAATT TCCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAATTAAAAT TTCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAAATATATG AAAACAGATGTTTGCCATATATGTGATATAGGTAAATGAATTATGTATAC AATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATGAAAACTA GAAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGCTCTCCAT TCGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATATAAAGCC TGGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAATAAGGTTT TTAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGATGTTGCTG GAATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCATGTATAA TATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGATAAAGTGG TACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAGTGCAGCC TTACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAATTGTTGC TTAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCAAAAAGTC TTTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGCAGCAGCA GCAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAAAGTGGTA GAAACATACATGCACACATACTCAAAAATATTCATTTTTGATTTTCATGT CCATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCCCTGCTGT TTCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTAATTTATT ATTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACTTTTCTCT GTATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTATACCTATC TACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTTGTATTTA TTTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTACCTTGACC ACCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTTAAAATTC ATTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATACGTGTAA CTTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTATTTTCTAA TTTAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTCTTTTGAT AGTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAGATTAGGA AGCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATGTAACTAG AGAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGAGTTCTTT CCACTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTTTTCAATA GTTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTAAGTTTGT CAAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAACTTACATTC ACTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGAATGAAAT CATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATCTTAGTGA AGTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGCGGGAGCT AAATAATATGTACACATGGACATAGTATGTAAAGTACCTTTATAAATATA ATAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACCTCTTTTA CCTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCTAATAATT TTAATACTAAATTAGCACTTACATATTAACAATAAAATTGATTTTAAGGA TATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAAACTCTCC TCTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAATTGCACCC AGGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGAGTTGAAG ATGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAGTAGTAGG CAATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTCAACACAC CAATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTGTTACTCT TCTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAACAAAATAG TATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTGGCCTTCA TGACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCGATATGTG GCCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAGGAATCTG CATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTTGCACTGT TTCACACCATCCTCACCTTCCGCCTCTCCTATTGCCACTCCAACATTGTC AACCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCAGA CACTCGCTTCAAACAGCT	p.Phe others(5): Show p.Phe200fs	OR8U1	ENSG00000172199.1	transcript	ENST00000302270.1	protein_coding	1/1	591/930	591/930	197/309	INFO_REALIGN_3_PRIME	chr11	TogoVar
OR8U1_chr11_56370624_56381553	56376094	A A	ATTTCACA others(7597): Show ATTTCACACCATCCTCACCTTCCGCCTCTCCTATTGCCACTCCAACATTG TCAACCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCA GACACTCGCTTCAAACAGCTATGGATTTTGGCCTGTGCTGGTATCACATT CATCTGCTCTGTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTG CCATCCTGAGGATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACC TGTAGCTCTCACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTT TATGTACTTACAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGG CCTCTGTCTTCTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTAC AGTCTCAGGAACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAA TAGAAACCATGCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGA CAAAAATGGGCATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAAC TATTGGAATACCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTG AAAAAATTATTCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATT TCATATGTAGAAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAA TGTATTTTTAAAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCT GCCAGGAATAGAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGT AAGAGTTCTTTAACAATATGTTAAGACTATTTTATAGTATATTTAAAATT AAATTTAATAATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGA GGTAATTTTTCTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTG ATTTTCACAATGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGG GTGGAGGCCAGGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCC TCACTCAAAAAATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGA GAGCCGGTGTTAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATT CATTAAGATCAAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTA TGGTTTTCTCTTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATC CCAAGTTAAATTACATATTTACATTTATTTTCTGTCAGTTTTAATTTTAA ATGTTTTGGGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAAT TTACTGATTTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGT GATAGCATTTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACT TCATCTCTCTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTA CTTTCATTATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAG CTAATAGTTGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTT TTAATTAGAGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGC TGAATTTATGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTT TTTATTTCCTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTA GAAATTTAATTTCTGATGTGTTAAATATGTACACACACAAACAGACACAC AGACATGCATTAGTAATGATTGCTCTAAGGATTTCAATATTGATTTTAAC TTATCACCATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACA TACATACATACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTA TTATCATAATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAG AAATATACAATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATG TAGACTATATATACACAGACATATGACTATATCAATAATATGATGATACA TCAATAAATAAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTT CGTGTATTTCTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCT GAAAGACATTCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAAT TATCTTAATCTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAAT ATAATTTGACTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGC AGTTTGGACATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTC ATGTGTTAAACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGAT TTTTCGCTGTCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGAT TCCTTGGTGTTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACAT GTTAATGCTTTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAA GTATTTTCCCCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTT TTACTGGTACACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGC CCCAGAAGTCGCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTCTGT TTTCTAGAATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTCT GTCTTCAGCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCAT TTCAGGTATTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAAA ATTGCTATAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCAA TATATTAGAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGTA CCTTGATAAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATTA TTTTTTCAGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACAT GTGCACAACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTTT TATCTCCAAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAAATTT TTTCCATTTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTTG TATCAAATGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGACGGTG TAAACTCAATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACATA TTTGGGGAATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACTA TATTTGGGGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCTT CCCTACCACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTTT GCTTTTTCAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACAA AGAAATAACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGTG ACAGAAATTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAAG ATACTTTCTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGGC AGCCACCATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGAG GAGACAGAGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTTT TGCGTCTCTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCTA ATCTTAATTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGGA GTTAGAGCTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGCA GATGCATTGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTATG GCCACAGATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAAG GAACTATAAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGACA CAGATGTTTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCATG TCTTAAATTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTTG GAAGATATGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTAA AAATAAATCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTCA AATAAATAAATAAATAAATAACAAGAACAACAATATGAACAAGTAAAATA TGAATAAATAAATAGCACTATTAATAATAAAATTATCAATCAATAAATAG CATTCCAAAAATAAGAACATTAGAGCAATAACGTCATGCTAAGACAGAGC TATAGATCTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCTA GCCTGCTTTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTTA CTTGCATCATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGTG ACTGTCAAAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGAA ATAGGAACACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATTA AGGTCAAGATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAACT TTATAACATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTATA ATTTTATTTCTGTTATATATGTATGCGTTATATAAAATATATTTCTTATT GGTATGAGATGAAAAAGAAAGTTCGGGAATACCAAGATAAAATTTATTAG GCTGCTTGGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATTA AAACTGTCCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAACC AAGTCATCAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTAA TTGTGAACCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATTA TTAATTTCCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAAT TAAAATTTCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAAA TATATGAAAACAGATGTTTGCCATATATGTGATATAGGTAAATGAATTAT GTATACAATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATGA AAACTAGAAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGCT CTCCATTCGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATAT AAAGCCTGGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAATA AGGTTTTTAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGATG TTGCTGGAATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCAT GTATAATATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGATA AAGTGGTACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAGT GCAGCCTTACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAAT TGTTGCTTAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCAA AAAGTCTTTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGCA GCAGCAGCAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAAA GTGGTAGAAACATACATGCACACATACTCAAAAATATTCATTTTTGATTT TCATGTCCATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCCC TGCTGTTTCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTAA TTTATTATTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACTT TTCTCTGTATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTATA CCTATCTACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTTG TATTTATTTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTACC TTGACCACCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTTA AAATTCATTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATAC GTGTAACTTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTATT TTCTAATTTAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTCT TTTGATAGTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAGA TTAGGAAGCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATGT AACTAGAGAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGAG TTCTTTCCACTGTATCCTGCTTGACTTAAATACCTACAAAATACCATTTT TCAATAGTTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTAA GTTTGTCAAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAATTT ACATTCACTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGAA TGAAATCATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATCT TAGTGAAGTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGCG GGAGCTAAATAATATGTACACATGGACATAGTATGTAAAGTACCTTTATA AATATAATAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACCT CTTTTACCTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCTA ATAATTTTAATACTAAATTAGCACTTACATATTAACAATAAAATTGATTT TAAGGATATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAAA CTCTCCTCTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAATT GCACCCAGGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGAG TTGAAGATGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAGT AGTAGGCAATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTCA ACACACCAATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTGT TACTCTTCTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAACA AAATAGTATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTGG CCTTCATGATGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCGA TATGTGGCCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAGG AATCTGCATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTTG CACTG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp2 HG00323.hp1 HG01433.hp2 others(2): Show HG00099.hp2 HG00323.hp1 HG01433.hp2 HG01496.hp2 NA20129.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0000 a0002c0007t0000	a0002c0007t0000g0000 a0002c0007t0000g0000	5	364	0.0137	7604	c.590 others(7611): Show c.590_591insATGGATTTTGGCCTGTGCTGGTATCACATTCATCTGCT CTGTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTGCCATCCTG AGGATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACCTGTAGCTC TCACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTTTATGTACT TACAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGGCCTCTGTC TTCTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTACAGTCTCAG GAACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAATAGAAACC ATGCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGACAAAAATG GGCATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAACTATTGGAA TACCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTGAAAAAATT ATTCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATTTCATATGT AGAAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAATGTATTTT TAAAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCTGCCAGGAA TAGAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGTAAGAGTTC TTTAACAATATGTTAAGACTATTTTATAGTATATTTAAAATTAAATTTAA TAATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGAGGTAATTT TTCTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTGATTTTCAC AATGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGGGTGGAGGC CAGGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCCTCACTCAA AAAATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGAGAGCCGGT GTTAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATTCATTAAGA TCAAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTATGGTTTTC TCTTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATCCCAAGTTA AATTACATATTTACATTTATTTTCTGTCAGTTTTAATTTTAAATGTTTTG GGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAATTTACTGAT TTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGTGATAGCAT TTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACTTCATCTCT CTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTACTTTCATT ATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAGCTAATAGT TGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTTTTAATTAG AGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGCTGAATTTA TGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTTTTTATTTC CTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAGAAATTTA ATTTCTGATGTGTTAAATATGTACACACACAAACAGACACACAGACATGC ATTAGTAATGATTGCTCTAAGGATTTCAATATTGATTTTAACTTATCACC ATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACATACATACA TACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTATTATCATA ATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGAAATATAC AATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGTAGACTAT ATATACACAGACATATGACTATATCAATAATATGATGATACATCAATAAA TAAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCGTGTATT TCTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGAAAGACA TTCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTATCTTAA TCTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATATAATTTG ACTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAGTTTGGA CATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCATGTGTTA AACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATTTTTCGCT GTCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTCCTTGGT GTTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGTTAATGC TTTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGTATTTTC CCCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTTACTGGT ACACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCCCAGAAG TCGCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTCTGTTTTCTAGA ATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTCTGTCTTCAG CTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCATTTCAGGTA TTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAAAATTGCTAT AAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCAATATATTAG AAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGTACCTTGATA AAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATTATTTTTTCA GTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACATGTGCACAA CGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTTTTATCTCCA AATACTCTATCTGGTTCTTTAAAAAATATATATTAAAAATTTTTTCCATT TGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTTGTATCAAAT GTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGACGGTGTAAACTCA ATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACATATTTGGGGA ATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACTATATTTGGG GAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCTTCCCTACCA CCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTTTGCTTTTTC AGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACAAAGAAATAA CAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGTGACAGAAAT TTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAAGATACTTTC TGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGGCAGCCACCA TCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGAGGAGACAGA GAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTTTTGCGTCTC TTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCTAATCTTAAT TTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGGAGTTAGAGC TTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGCAGATGCATT GTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTATGGCCACAGA TTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAAGGAACTATA AAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGACACAGATGTT TCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCATGTCTTAAAT TATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTTGGAAGATAT GTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTAAAAATAAAT CTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTCAAATAAATA AATAAATAAATAACAAGAACAACAATATGAACAAGTAAAATATGAATAAA TAAATAGCACTATTAATAATAAAATTATCAATCAATAAATAGCATTCCAA AAATAAGAACATTAGAGCAATAACGTCATGCTAAGACAGAGCTATAGATC TTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCTAGCCTGCTT TGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTTACTTGCATC ATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGTGACTGTCAA AACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGAAATAGGAAC ACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATTAAGGTCAAG ATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAACTTTATAACA TTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTATAATTTTATT TCTGTTATATATGTATGCGTTATATAAAATATATTTCTTATTGGTATGAG ATGAAAAAGAAAGTTCGGGAATACCAAGATAAAATTTATTAGGCTGCTTG GAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATTAAAACTGTC CTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAACCAAGTCATC AATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTAATTGTGAAC CAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATTATTAATTTC CCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAATTAAAATTT CATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAAATATATGAA AACAGATGTTTGCCATATATGTGATATAGGTAAATGAATTATGTATACAA TGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATGAAAACTAGA AATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGCTCTCCATTC GCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATATAAAGCCTG GGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAATAAGGTTTTT AATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGATGTTGCTGGA ATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCATGTATAATA TTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGATAAAGTGGTA CTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAGTGCAGCCTT ACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAATTGTTGCTT AATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCAAAAAGTCTT TAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGCAGCAGCAGC AGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAAAGTGGTAGA AACATACATGCACACATACTCAAAAATATTCATTTTTGATTTTCATGTCC ATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCCCTGCTGTTT CCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTAATTTATTAT TTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACTTTTCTCTGT ATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTATACCTATCTA CTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTTGTATTTATT TCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTACCTTGACCAC CCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTTAAAATTCAT TGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATACGTGTAACT TTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTATTTTCTAATT TAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTCTTTTGATAG TAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAGATTAGGAAG CTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATGTAACTAGAG AATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGAGTTCTTTCC ACTGTATCCTGCTTGACTTAAATACCTACAAAATACCATTTTTCAATAGT TACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTAAGTTTGTCA AAATTCACTATATTTACTTCCTCATAGCCATAATGGCAATTTACATTCAC TTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGAATGAAATCA TGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATCTTAGTGAAG TAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGCGGGAGCTAA ATAATATGTACACATGGACATAGTATGTAAAGTACCTTTATAAATATAAT AAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACCTCTTTTACC TTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCTAATAATTTT AATACTAAATTAGCACTTACATATTAACAATAAAATTGATTTTAAGGATA TTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAAACTCTCCTC TTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAATTGCACCCAG GTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGAGTTGAAGAT GCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAGTAGTAGGCA ATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTCAACACACCA ATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTGTTACTCTTC TGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAACAAAATAGTA TTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTGGCCTTCATG ATGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCGATATGTGGC CATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAGGAATCTGCA TTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTTGCACTGTTT CACACCATCCTCACCTTCCGCCTCTCCTATTGCCACTCCAACATTGTCAA CCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCAGACA CTCGCTTCAAACAGCT	p.Phe others(5): Show p.Phe200fs	OR8U1	ENSG00000172199.1	transcript	ENST00000302270.1	protein_coding	1/1	591/930	591/930	197/309	INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RX5_chr17_3668227_3701155	3690982	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02698.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0092 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0129 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0284 a0001c0001t0002g0292 a0001c0001t0002g0323 a0001c0001t0002g0330 a0001c0001t0002g0335 a0001c0001t0005g0253 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0078 a0001c0003t0001g0285 a0001c0005t0001g0101 a0001c0006t0001g0182 a0001c0007t0001g0282	219	362	0.6050	-1	c.333 others(4): Show c.333delC	p.Asn others(5): Show p.Asn112fs	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	3/12	483/2060	333/1269	111/422		chr17	TogoVar
PAK2_chr3_196734857_196837647	196820350	C C	CTGTTT CTGTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00544.hp1 HG01070.hp2 HG01496.hp1 others(9): Show HG00544.hp1 HG01070.hp2 HG01496.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 NA18940.hp2 NA18971.hp1 NA18980.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0008 a0001c0001t0062 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0062 a0001c0003t0006 a0001c0003t0008	a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0087 others(9): Show a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0001t0062g0087 a0001c0003t0006g0015 a0001c0003t0006g0066 a0001c0003t0006g0067 a0001c0003t0006g0069 a0001c0003t0006g0125 a0001c0003t0008g0028 a0001c0003t0008g0063 a0001c0003t0008g0064 a0001c0003t0008g0065	12	178	0.0674	5	c.115 others(18): Show c.1154-7_1154-3dupTTTGT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	12/14				INFO_REALIGN_3_PRIME	chr3	TogoVar
PANK2_chr20_3884387_3934887	3889432	T T	A A	start_lost start_lost	HIGH	HG00408.hp2 HG00735.hp2 HG01070.hp1 others(43): Show HG00408.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02886.hp1 HG02895.hp2 HG06807.hp2 NA18953.hp2 NA18954.hp1 NA18967.hp1 NA18970.hp2 NA18980.hp1 NA18986.hp1 NA19009.hp1 NA19010.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0004 a0001c0003t0010 others(11): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0010 a0001c0003t0013 a0001c0003t0014 a0001c0003t0018 a0001c0003t0019 a0001c0003t0026 a0001c0003t0027 a0001c0003t0038 a0001c0003t0062 a0001c0003t0069 a0001c0003t0142 a0001c0006t0071	a0001c0003t0001g0034 a0001c0003t0004g0001 a0001c0003t0004g0002 others(39): Show a0001c0003t0001g0034 a0001c0003t0004g0001 a0001c0003t0004g0002 a0001c0003t0004g0008 a0001c0003t0004g0025 a0001c0003t0004g0028 a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0032 a0001c0003t0004g0035 a0001c0003t0004g0038 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0010g0033 a0001c0003t0010g0050 a0001c0003t0013g0039 a0001c0003t0014g0001 a0001c0003t0014g0024 a0001c0003t0014g0026 a0001c0003t0014g0027 a0001c0003t0014g0029 a0001c0003t0014g0036 a0001c0003t0014g0052 a0001c0003t0018g0241 a0001c0003t0019g0002 a0001c0003t0026g0002 a0001c0003t0026g0008 a0001c0003t0026g0037 a0001c0003t0027g0043 a0001c0003t0027g0049 a0001c0003t0038g0023 a0001c0003t0062g0053 a0001c0003t0069g0051 a0001c0003t0142g0022 a0001c0006t0071g0044	46	422	0.1090	0	c.2T> others(1): Show c.2T>A	p.Leu others(2): Show p.Leu1?	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding	1/7	46/8020	2/1383	1/460		chr20	TogoVar
PDLIM2_chr8_22575475_22599298	22593765	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(39): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01993.hp1 HG01993.hp2 HG02559.hp2 HG02572.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG04204.hp2 NA18906.hp2 NA18943.hp2 NA18953.hp2 NA18968.hp1 NA18979.hp1 NA18984.hp2 NA19066.hp1 NA19080.hp2 NA20129.hp2	a0002 a0005 a0008 others(1): Show a0002 a0005 a0008 a0009	a0002c0003 a0002c0004 a0002c0018 others(4): Show a0002c0003 a0002c0004 a0002c0018 a0005c0011 a0005c0017 a0008c0021 a0009c0013	a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 others(6): Show a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0018t0001 a0005c0011t0001 a0005c0017t0001 a0008c0021t0002 a0009c0013t0004	a0002c0003t0001g0005 a0002c0003t0001g0041 a0002c0003t0001g0054 others(37): Show a0002c0003t0001g0005 a0002c0003t0001g0041 a0002c0003t0001g0054 a0002c0003t0001g0056 a0002c0003t0001g0063 a0002c0003t0001g0078 a0002c0003t0001g0086 a0002c0003t0001g0094 a0002c0003t0001g0102 a0002c0003t0001g0119 a0002c0003t0001g0129 a0002c0003t0001g0133 a0002c0003t0001g0263 a0002c0003t0001g0267 a0002c0003t0002g0016 a0002c0003t0002g0019 a0002c0003t0002g0070 a0002c0003t0002g0110 a0002c0003t0002g0128 a0002c0003t0002g0135 a0002c0003t0002g0152 a0002c0004t0001g0001 a0002c0004t0001g0028 a0002c0004t0001g0167 a0002c0004t0001g0172 a0002c0004t0001g0181 a0002c0004t0001g0190 a0002c0004t0001g0227 a0002c0004t0001g0288 a0002c0004t0001g0302 a0002c0004t0001g0306 a0002c0004t0002g0202 a0002c0004t0002g0222 a0002c0004t0002g0240 a0002c0018t0001g0228 a0005c0011t0001g0011 a0005c0011t0001g0193 a0005c0017t0001g0042 a0008c0021t0002g0003 a0009c0013t0004g0273	42	380	0.1105	1	c.916 others(4): Show c.916dupC	p.Arg others(5): Show p.Arg306fs	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding	9/9	1047/1577	917/1059	306/352	INFO_REALIGN_3_PRIME	chr8	TogoVar
PEAK3_chr19_2269631_2287175	2275876	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01496.hp1 HG02559.hp2 HG03098.hp1 others(3): Show HG01496.hp1 HG02559.hp2 HG03098.hp1 NA19000.hp2 NA19030.hp2 NA19090.hp1	a0000 a0000	a0000c0006 a0000c0007 a0000c0019 a0000c0006 a0000c0007 a0000c0019	a0000c0006t0001 a0000c0006t0006 a0000c0007t0002 others(2): Show a0000c0006t0001 a0000c0006t0006 a0000c0007t0002 a0000c0007t0032 a0000c0019t0002	a0000c0006t0001g0122 a0000c0006t0006g0104 a0000c0006t0006g0108 others(3): Show a0000c0006t0001g0122 a0000c0006t0006g0104 a0000c0006t0006g0108 a0000c0007t0002g0064 a0000c0007t0032g0074 a0000c0019t0002g0159	6	454	0.0132	1	c.122 others(5): Show c.1225dupC	p.Arg others(5): Show p.Arg409fs	PEAK3	ENSG00000188305.6	transcript	ENST00000342063.5	protein_coding	4/4	1318/2564	1225/1422	409/473		chr19	TogoVar
PGPEP1L_chr15_98963229_99012792	98968575	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00423.hp1 HG00438.hp2 others(166): Show HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0000	a0000c0002 a0000c0005 a0000c0010 a0000c0002 a0000c0005 a0000c0010	a0000c0002t0001 a0000c0002t0002 a0000c0002t0003 others(16): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0003 a0000c0002t0005 a0000c0002t0006 a0000c0002t0016 a0000c0002t0017 a0000c0002t0019 a0000c0002t0020 a0000c0002t0022 a0000c0002t0023 a0000c0002t0024 a0000c0002t0025 a0000c0002t0026 a0000c0002t0027 a0000c0002t0035 a0000c0002t0037 a0000c0005t0001 a0000c0010t0001	a0000c0002t0001g0001 a0000c0002t0001g0003 a0000c0002t0001g0004 others(162): Show a0000c0002t0001g0001 a0000c0002t0001g0003 a0000c0002t0001g0004 a0000c0002t0001g0015 a0000c0002t0001g0016 a0000c0002t0001g0017 a0000c0002t0001g0018 a0000c0002t0001g0019 a0000c0002t0001g0020 a0000c0002t0001g0021 a0000c0002t0001g0027 a0000c0002t0001g0029 a0000c0002t0001g0030 a0000c0002t0001g0031 a0000c0002t0001g0032 a0000c0002t0001g0035 a0000c0002t0001g0038 a0000c0002t0001g0039 a0000c0002t0001g0043 a0000c0002t0001g0049 a0000c0002t0001g0050 a0000c0002t0001g0051 a0000c0002t0001g0054 a0000c0002t0001g0055 a0000c0002t0001g0060 a0000c0002t0001g0062 a0000c0002t0001g0063 a0000c0002t0001g0064 a0000c0002t0001g0065 a0000c0002t0001g0066 a0000c0002t0001g0067 a0000c0002t0001g0068 a0000c0002t0001g0069 a0000c0002t0001g0070 a0000c0002t0001g0071 a0000c0002t0001g0072 a0000c0002t0001g0074 a0000c0002t0001g0076 a0000c0002t0001g0077 a0000c0002t0001g0078 a0000c0002t0001g0079 a0000c0002t0001g0080 a0000c0002t0001g0083 a0000c0002t0001g0084 a0000c0002t0001g0085 a0000c0002t0001g0086 a0000c0002t0001g0087 a0000c0002t0001g0088 a0000c0002t0001g0089 a0000c0002t0001g0090 a0000c0002t0001g0091 a0000c0002t0001g0092 a0000c0002t0001g0094 a0000c0002t0001g0095 a0000c0002t0001g0096 a0000c0002t0001g0097 a0000c0002t0001g0098 a0000c0002t0001g0099 a0000c0002t0001g0100 a0000c0002t0001g0101 a0000c0002t0001g0102 a0000c0002t0001g0103 a0000c0002t0001g0106 a0000c0002t0001g0107 a0000c0002t0001g0108 a0000c0002t0001g0109 a0000c0002t0001g0110 a0000c0002t0001g0111 a0000c0002t0001g0112 a0000c0002t0001g0114 a0000c0002t0001g0115 a0000c0002t0001g0116 a0000c0002t0001g0117 a0000c0002t0001g0118 a0000c0002t0001g0120 a0000c0002t0001g0121 a0000c0002t0001g0122 a0000c0002t0001g0123 a0000c0002t0001g0124 a0000c0002t0001g0125 a0000c0002t0001g0127 a0000c0002t0001g0129 a0000c0002t0001g0130 a0000c0002t0001g0133 a0000c0002t0001g0134 a0000c0002t0001g0135 a0000c0002t0001g0138 a0000c0002t0001g0140 a0000c0002t0001g0141 a0000c0002t0001g0143 a0000c0002t0001g0145 a0000c0002t0001g0146 a0000c0002t0001g0147 a0000c0002t0001g0148 a0000c0002t0001g0149 a0000c0002t0001g0150 a0000c0002t0001g0151 a0000c0002t0001g0152 a0000c0002t0001g0153 a0000c0002t0001g0155 a0000c0002t0001g0156 a0000c0002t0001g0157 a0000c0002t0001g0158 a0000c0002t0001g0159 a0000c0002t0001g0160 a0000c0002t0001g0161 a0000c0002t0001g0162 a0000c0002t0001g0163 a0000c0002t0001g0164 a0000c0002t0001g0165 a0000c0002t0001g0166 a0000c0002t0001g0167 a0000c0002t0001g0168 a0000c0002t0001g0169 a0000c0002t0001g0170 a0000c0002t0001g0171 a0000c0002t0001g0172 a0000c0002t0001g0177 a0000c0002t0001g0179 a0000c0002t0001g0180 a0000c0002t0001g0181 a0000c0002t0001g0182 a0000c0002t0001g0194 a0000c0002t0001g0197 a0000c0002t0001g0201 a0000c0002t0001g0202 a0000c0002t0001g0203 a0000c0002t0001g0204 a0000c0002t0001g0206 a0000c0002t0001g0208 a0000c0002t0001g0210 a0000c0002t0002g0261 a0000c0002t0002g0262 a0000c0002t0002g0275 a0000c0002t0002g0276 a0000c0002t0002g0284 a0000c0002t0002g0285 a0000c0002t0002g0304 a0000c0002t0002g0311 a0000c0002t0002g0315 a0000c0002t0002g0326 a0000c0002t0002g0327 a0000c0002t0002g0330 a0000c0002t0003g0220 a0000c0002t0005g0008 a0000c0002t0005g0382 a0000c0002t0005g0383 a0000c0002t0005g0387 a0000c0002t0005g0389 a0000c0002t0006g0250 a0000c0002t0016g0011 a0000c0002t0017g0012 a0000c0002t0019g0014 a0000c0002t0020g0200 a0000c0002t0022g0209 a0000c0002t0023g0184 a0000c0002t0024g0211 a0000c0002t0025g0212 a0000c0002t0026g0213 a0000c0002t0027g0214 a0000c0002t0035g0340 a0000c0002t0037g0371 a0000c0005t0001g0205 a0000c0005t0001g0207 a0000c0010t0001g0093	169	398	0.4246	1	c.331 others(4): Show c.331dupG	p.Val others(5): Show p.Val111fs	PGPEP1L	ENSG00000183571.11	transcript	ENST00000535714.2	protein_coding	5/5	1134/1481	331/429	111/142		chr15	TogoVar
PITRM1_chr10_3132728_3177782	3166375	T T	TGCACGCT others(18): Show TGCACGCTAGGGAAGAGAGAGGAATG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0014	a0001c0001 a0001c0002 a0001c0005 others(43): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0003c0008 a0003c0010 a0003c0035 a0003c0062 a0003c0063 a0003c0064 a0003c0065 a0003c0066 a0003c0067 a0006c0017 a0006c0060 a0014c0036	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(44): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0001c0009t0001 a0001c0011t0001 a0001c0011t0003 a0001c0012t0001 a0001c0013t0001 a0001c0015t0002 a0001c0016t0004 a0001c0019t0005 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0031t0003 a0001c0032t0001 a0001c0033t0001 a0001c0044t0002 a0001c0045t0002 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0051t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0004 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0003c0008t0001 a0003c0010t0001 a0003c0035t0001 a0003c0062t0001 a0003c0063t0001 a0003c0064t0001 a0003c0065t0001 a0003c0066t0001 a0003c0067t0001 a0006c0017t0001 a0006c0060t0001 a0014c0036t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(208): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0309 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0002g0041 a0001c0005t0002g0042 a0001c0005t0002g0126 a0001c0005t0002g0127 a0001c0005t0002g0236 a0001c0005t0002g0237 a0001c0005t0002g0238 a0001c0005t0002g0285 a0001c0005t0002g0287 a0001c0005t0002g0289 a0001c0005t0002g0290 a0001c0005t0002g0292 a0001c0005t0002g0293 a0001c0005t0002g0294 a0001c0005t0002g0295 a0001c0005t0002g0297 a0001c0005t0002g0298 a0001c0005t0002g0301 a0001c0005t0002g0302 a0001c0005t0002g0304 a0001c0005t0002g0305 a0001c0005t0002g0306 a0001c0005t0002g0307 a0001c0009t0001g0018 a0001c0009t0001g0079 a0001c0009t0001g0111 a0001c0009t0001g0129 a0001c0009t0001g0130 a0001c0009t0001g0132 a0001c0011t0001g0054 a0001c0011t0001g0056 a0001c0011t0001g0057 a0001c0011t0001g0069 a0001c0011t0001g0143 a0001c0011t0003g0078 a0001c0012t0001g0019 a0001c0012t0001g0128 a0001c0012t0001g0135 a0001c0012t0001g0136 a0001c0013t0001g0253 a0001c0013t0001g0258 a0001c0013t0001g0260 a0001c0013t0001g0271 a0001c0013t0001g0276 a0001c0015t0002g0284 a0001c0015t0002g0288 a0001c0015t0002g0296 a0001c0015t0002g0299 a0001c0016t0004g0063 a0001c0016t0004g0064 a0001c0016t0004g0066 a0001c0016t0004g0067 a0001c0019t0005g0020 a0001c0019t0005g0120 a0001c0020t0001g0141 a0001c0020t0001g0142 a0001c0020t0001g0144 a0001c0021t0001g0055 a0001c0021t0001g0058 a0001c0021t0001g0092 a0001c0022t0001g0147 a0001c0022t0001g0148 a0001c0022t0001g0149 a0001c0028t0002g0300 a0001c0028t0002g0303 a0001c0029t0001g0032 a0001c0030t0001g0038 a0001c0031t0003g0061 a0001c0031t0003g0062 a0001c0032t0001g0045 a0001c0033t0001g0131 a0001c0033t0001g0134 a0001c0044t0002g0291 a0001c0045t0002g0308 a0001c0046t0001g0137 a0001c0047t0001g0261 a0001c0048t0001g0108 a0001c0049t0001g0100 a0001c0050t0001g0070 a0001c0051t0001g0273 a0001c0052t0001g0248 a0001c0053t0001g0072 a0001c0054t0004g0065 a0001c0055t0001g0140 a0001c0056t0001g0133 a0001c0057t0001g0071 a0001c0058t0001g0110 a0003c0008t0001g0049 a0003c0008t0001g0050 a0003c0008t0001g0339 a0003c0008t0001g0341 a0003c0008t0001g0343 a0003c0008t0001g0344 a0003c0008t0001g0345 a0003c0008t0001g0348 a0003c0010t0001g0047 a0003c0010t0001g0338 a0003c0010t0001g0347 a0003c0010t0001g0349 a0003c0010t0001g0351 a0003c0010t0001g0353 a0003c0035t0001g0048 a0003c0062t0001g0342 a0003c0063t0001g0352 a0003c0064t0001g0354 a0003c0065t0001g0346 a0003c0066t0001g0340 a0003c0067t0001g0350 a0006c0017t0001g0332 a0006c0017t0001g0334 a0006c0017t0001g0335 a0006c0017t0001g0336 a0006c0060t0001g0333 a0014c0036t0002g0286	280	446	0.6278	25	c.271 others(32): Show c.271_272insCATTCCTCTCTCTTCCCTAGCGTGC	p.Gln others(4): Show p.Gln91fs	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	4/27	281/3427	271/3114	91/1037		chr10	TogoVar
PKD1_chr16_2083708_2140898	2100445	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00673.hp1 HG00673.hp2 others(14): Show HG00423.hp1 HG00673.hp1 HG00673.hp2 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02293.hp2 HG02615.hp1 HG02717.hp1 HG03688.hp2 HG04228.hp1 NA19005.hp2	a0002 a0029 a0030 others(4): Show a0002 a0029 a0030 a0033 a0047 a0059 a0073	a0002c0004 a0002c0066 a0002c0082 others(9): Show a0002c0004 a0002c0066 a0002c0082 a0002c0088 a0002c0095 a0002c0096 a0029c0071 a0030c0093 a0033c0075 a0047c0098 a0059c0056 a0073c0029	a0002c0004t0001 a0002c0066t0001 a0002c0082t0002 others(9): Show a0002c0004t0001 a0002c0066t0001 a0002c0082t0002 a0002c0088t0003 a0002c0095t0001 a0002c0096t0001 a0029c0071t0001 a0030c0093t0001 a0033c0075t0001 a0047c0098t0001 a0059c0056t0002 a0073c0029t0001	a0002c0004t0001g0041 a0002c0004t0001g0060 a0002c0004t0001g0063 others(14): Show a0002c0004t0001g0041 a0002c0004t0001g0060 a0002c0004t0001g0063 a0002c0004t0001g0124 a0002c0004t0001g0127 a0002c0004t0001g0171 a0002c0066t0001g0103 a0002c0082t0002g0033 a0002c0088t0003g0054 a0002c0095t0001g0178 a0002c0096t0001g0076 a0029c0071t0001g0129 a0030c0093t0001g0064 a0033c0075t0001g0119 a0047c0098t0001g0046 a0059c0056t0002g0105 a0073c0029t0001g0159	17	216	0.0787	1	c.951 others(5): Show c.9518dupC	p.His others(6): Show p.His3174fs	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	27/46	9727/14140	9518/12912	3173/4303		chr16	TogoVar
PKD1_chr16_2083708_2140898	2103757	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01069.hp2 HG01099.hp1 HG01346.hp2 others(11): Show HG01069.hp2 HG01099.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01978.hp1 HG02145.hp2 HG02622.hp2 HG02970.hp2 HG03471.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2	a0003 a0023 a0030 others(4): Show a0003 a0023 a0030 a0034 a0049 a0057 a0069	a0003c0042 a0003c0043 a0003c0076 others(11): Show a0003c0042 a0003c0043 a0003c0076 a0003c0077 a0003c0078 a0003c0079 a0003c0100 a0003c0115 a0023c0114 a0030c0093 a0034c0097 a0049c0064 a0057c0046 a0069c0109	a0003c0042t0012 a0003c0043t0001 a0003c0076t0001 others(11): Show a0003c0042t0012 a0003c0043t0001 a0003c0076t0001 a0003c0077t0001 a0003c0078t0002 a0003c0079t0001 a0003c0100t0001 a0003c0115t0003 a0023c0114t0001 a0030c0093t0001 a0034c0097t0001 a0049c0064t0001 a0057c0046t0011 a0069c0109t0004	a0003c0042t0012g0203 a0003c0043t0001g0206 a0003c0076t0001g0025 others(11): Show a0003c0042t0012g0203 a0003c0043t0001g0206 a0003c0076t0001g0025 a0003c0077t0001g0052 a0003c0078t0002g0116 a0003c0079t0001g0050 a0003c0100t0001g0098 a0003c0115t0003g0110 a0023c0114t0001g0160 a0030c0093t0001g0064 a0034c0097t0001g0169 a0049c0064t0001g0058 a0057c0046t0011g0201 a0069c0109t0004g0012	14	216	0.0648	1	c.829 others(5): Show c.8299dupC	p.Arg others(6): Show p.Arg2767fs	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	23/46	8508/14140	8299/12912	2767/4303		chr16	TogoVar
PLEC_chr8_143910153_143944597	143925061	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00609.hp1 HG00673.hp1 HG01192.hp1 others(25): Show HG00609.hp1 HG00673.hp1 HG01192.hp1 HG01192.hp2 HG01496.hp2 HG02145.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02738.hp1 HG03209.hp1 HG03688.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp2 NA18946.hp1 NA18947.hp2 NA18964.hp1 NA18964.hp2 NA18978.hp1 NA18994.hp2 NA19007.hp1 NA19057.hp2 NA19066.hp1 NA19080.hp1 NA19084.hp2 NA19091.hp1	a0005 a0011 a0024 others(6): Show a0005 a0011 a0024 a0027 a0029 a0041 a0070 a0083 a0103	a0005c0011 a0005c0038 a0005c0171 others(18): Show a0005c0011 a0005c0038 a0005c0171 a0005c0172 a0005c0173 a0005c0174 a0005c0175 a0005c0176 a0005c0177 a0005c0178 a0011c0017 a0011c0066 a0011c0067 a0024c0092 a0024c0096 a0027c0079 a0029c0044 a0041c0117 a0070c0179 a0083c0113 a0103c0045	a0005c0011t0001 a0005c0038t0001 a0005c0171t0008 others(18): Show a0005c0011t0001 a0005c0038t0001 a0005c0171t0008 a0005c0172t0001 a0005c0173t0001 a0005c0174t0001 a0005c0175t0001 a0005c0176t0001 a0005c0177t0001 a0005c0178t0001 a0011c0017t0002 a0011c0066t0002 a0011c0067t0002 a0024c0092t0003 a0024c0096t0005 a0027c0079t0001 a0029c0044t0002 a0041c0117t0002 a0070c0179t0001 a0083c0113t0004 a0103c0045t0002	a0005c0011t0001g0019 a0005c0011t0001g0045 a0005c0011t0001g0163 others(23): Show a0005c0011t0001g0019 a0005c0011t0001g0045 a0005c0011t0001g0163 a0005c0038t0001g0124 a0005c0038t0001g0214 a0005c0171t0008g0210 a0005c0172t0001g0211 a0005c0173t0001g0169 a0005c0174t0001g0164 a0005c0175t0001g0212 a0005c0176t0001g0213 a0005c0177t0001g0129 a0005c0178t0001g0165 a0011c0017t0002g0076 a0011c0017t0002g0081 a0011c0017t0002g0090 a0011c0066t0002g0077 a0011c0067t0002g0078 a0024c0092t0003g0246 a0024c0096t0005g0245 a0027c0079t0001g0266 a0029c0044t0002g0100 a0041c0117t0002g0221 a0070c0179t0001g0166 a0083c0113t0004g0116 a0103c0045t0002g0066	28	358	0.0782	1	c.486 others(5): Show c.4867dupG	p.Ala others(6): Show p.Ala1623fs	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	31/32	5003/14804	4867/13644	1623/4547		chr8	TogoVar
PLEC_chr8_143910153_143978529	143925061	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00673.hp1 HG01192.hp1 others(19): Show HG00423.hp2 HG00673.hp1 HG01192.hp1 HG01192.hp2 HG01496.hp2 HG02145.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02738.hp1 HG03209.hp1 HG03688.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 NA18982.hp1 NA18994.hp2 NA19007.hp1 NA19057.hp2 NA19080.hp1 NA19084.hp2 NA19091.hp1	a0006 a0009 a0022 others(6): Show a0006 a0009 a0022 a0026 a0037 a0064 a0065 a0077 a0093	a0006c0014 a0006c0034 a0006c0150 others(14): Show a0006c0014 a0006c0034 a0006c0150 a0006c0151 a0006c0152 a0006c0153 a0009c0011 a0009c0055 a0009c0056 a0022c0081 a0022c0085 a0026c0068 a0037c0101 a0064c0155 a0065c0172 a0077c0097 a0093c0038	a0006c0014t0001 a0006c0034t0001 a0006c0150t0002 others(14): Show a0006c0014t0001 a0006c0034t0001 a0006c0150t0002 a0006c0151t0009 a0006c0152t0001 a0006c0153t0001 a0009c0011t0002 a0009c0055t0002 a0009c0056t0002 a0022c0081t0003 a0022c0085t0005 a0026c0068t0001 a0037c0101t0002 a0064c0155t0001 a0065c0172t0001 a0077c0097t0004 a0093c0038t0002	a0006c0014t0001g0007 a0006c0014t0001g0199 a0006c0014t0001g0259 others(19): Show a0006c0014t0001g0007 a0006c0014t0001g0199 a0006c0014t0001g0259 a0006c0034t0001g0058 a0006c0034t0001g0283 a0006c0150t0002g0230 a0006c0151t0009g0201 a0006c0152t0001g0210 a0006c0153t0001g0157 a0009c0011t0002g0028 a0009c0011t0002g0029 a0009c0011t0002g0061 a0009c0055t0002g0050 a0009c0056t0002g0047 a0022c0081t0003g0088 a0022c0085t0005g0089 a0026c0068t0001g0265 a0037c0101t0002g0158 a0064c0155t0001g0282 a0065c0172t0001g0184 a0077c0097t0004g0120 a0093c0038t0002g0073	22	302	0.0729	1	c.482 others(5): Show c.4825dupG	p.Ala others(6): Show p.Ala1609fs	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	31/32	4882/14683	4825/13602	1609/4533		chr8	TogoVar
PLEKHA2_chr8_38896346_38978912	38901439	C C	CG CG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(334): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0006 a0004c0004 a0005c0005 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0003t0001 a0001c0008t0017 a0002c0002t0001 a0002c0002t0004 a0002c0002t0031 a0003c0006t0001 a0004c0004t0005 a0005c0005t0002 a0006c0009t0008	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(332): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0368 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0092 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0193 a0001c0001t0002g0201 a0001c0001t0002g0212 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0267 a0001c0001t0002g0304 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0332 a0001c0001t0002g0335 a0001c0001t0002g0342 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0353 a0001c0001t0002g0362 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0369 a0001c0001t0003g0002 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0060 a0001c0001t0003g0080 a0001c0001t0003g0085 a0001c0001t0003g0089 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0134 a0001c0001t0003g0141 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0215 a0001c0001t0003g0255 a0001c0001t0003g0265 a0001c0001t0003g0277 a0001c0001t0003g0293 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0307 a0001c0001t0003g0310 a0001c0001t0003g0349 a0001c0001t0004g0028 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0087 a0001c0001t0004g0105 a0001c0001t0004g0237 a0001c0001t0004g0246 a0001c0001t0004g0257 a0001c0001t0004g0269 a0001c0001t0004g0286 a0001c0001t0004g0295 a0001c0001t0004g0303 a0001c0001t0004g0326 a0001c0001t0004g0331 a0001c0001t0004g0351 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0063 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0174 a0001c0001t0005g0192 a0001c0001t0005g0301 a0001c0001t0005g0312 a0001c0001t0005g0350 a0001c0001t0005g0357 a0001c0001t0005g0361 a0001c0001t0006g0023 a0001c0001t0006g0072 a0001c0001t0006g0119 a0001c0001t0006g0268 a0001c0001t0006g0328 a0001c0001t0006g0339 a0001c0001t0006g0344 a0001c0001t0006g0352 a0001c0001t0006g0373 a0001c0001t0008g0006 a0001c0001t0008g0088 a0001c0001t0008g0196 a0001c0001t0008g0288 a0001c0001t0008g0292 a0001c0001t0008g0340 a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0071 a0001c0001t0009g0133 a0001c0001t0009g0142 a0001c0001t0009g0145 a0001c0001t0009g0200 a0001c0001t0010g0232 a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0279 a0001c0001t0010g0320 a0001c0001t0010g0327 a0001c0001t0012g0139 a0001c0001t0012g0182 a0001c0001t0012g0184 a0001c0001t0012g0195 a0001c0001t0012g0230 a0001c0001t0014g0179 a0001c0001t0014g0248 a0001c0001t0014g0249 a0001c0001t0014g0250 a0001c0001t0015g0216 a0001c0001t0015g0240 a0001c0001t0015g0287 a0001c0001t0015g0334 a0001c0001t0017g0061 a0001c0001t0017g0194 a0001c0001t0018g0095 a0001c0001t0018g0244 a0001c0001t0018g0374 a0001c0001t0019g0124 a0001c0001t0019g0143 a0001c0001t0020g0012 a0001c0001t0020g0126 a0001c0001t0021g0186 a0001c0001t0021g0278 a0001c0001t0022g0222 a0001c0001t0022g0223 a0001c0001t0023g0359 a0001c0001t0023g0360 a0001c0001t0024g0136 a0001c0001t0024g0144 a0001c0001t0025g0013 a0001c0001t0025g0125 a0001c0001t0026g0135 a0001c0001t0026g0137 a0001c0001t0030g0018 a0001c0001t0032g0101 a0001c0001t0033g0207 a0001c0001t0034g0181 a0001c0001t0035g0183 a0001c0001t0036g0305 a0001c0001t0037g0217 a0001c0001t0038g0198 a0001c0001t0039g0274 a0001c0001t0040g0266 a0001c0001t0041g0319 a0001c0001t0042g0242 a0001c0001t0043g0035 a0001c0001t0044g0290 a0001c0001t0045g0302 a0001c0001t0046g0234 a0001c0001t0047g0219 a0001c0001t0048g0317 a0001c0003t0001g0306 a0001c0008t0017g0370 a0002c0002t0001g0231 a0002c0002t0004g0123 a0002c0002t0031g0046 a0003c0006t0001g0050 a0004c0004t0005g0355 a0005c0005t0002g0338 a0006c0009t0008g0211	337	376	0.8963	1	c.-24 others(6): Show c.-24+1dupG		PLEKHA2	ENSG00000169499.15	transcript	ENST00000617275.5	protein_coding	1/11				INFO_REALIGN_3_PRIME	chr8	TogoVar
PLXNC1_chr12_94143577_94312675	94303749	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01255.hp2 HG01346.hp1 HG01496.hp1 others(1): Show HG01255.hp2 HG01346.hp1 HG01496.hp1 HG01934.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0024 a0001c0001 a0008c0024	a0001c0001t0002 a0008c0024t0002 a0001c0001t0002 a0008c0024t0002	a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0103 others(1): Show a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0103 a0008c0024t0002g0104	4	298	0.0134	1	c.438 others(7): Show c.4387-3dupC		PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	28/30				INFO_REALIGN_3_PRIME	chr12	TogoVar
PNPLA7_chr9_137454952_137555402	137501647	CACCTGGT others(27): Show CACCTGGTCTCCCTGCCTTGACACCACCGTGCCTG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01496.hp2 HG01496.hp2	a0033 a0033	a0033c0050 a0033c0050	a0033c0050t0001 a0033c0050t0001	a0033c0050t0001g0136 a0033c0050t0001g0136	1	188	0.0053	-34	c.152 others(45): Show c.1520_1551+2delCAGGCACGGTGGTGTCAAGGCAGGGAGACCAGGT	p.Ala others(5): Show p.Ala507fs	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	15/35		1520/4029	507/1342		chr9	TogoVar
PPEF2_chr4_75854867_75907452	75864488	G G	A A	stop_gained stop_gained	HIGH	HG01496.hp2 HG01496.hp2	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0002 a0011c0023t0002	a0011c0023t0002g0232 a0011c0023t0002g0232	1	270	0.0037	0	c.196 others(4): Show c.1960C>T	p.Arg others(4): Show p.Arg654*	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/17	2241/3343	1960/2262	654/753		chr4	TogoVar
PRAMEF33_chr1_13298539_13313907	13307108	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0022 others(2): Show a0001 a0003 a0022 a0023 a0024	a0001c0001 a0001c0003 a0001c0005 others(31): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0027 a0001c0028 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0001c0076 a0001c0079 a0003c0004 a0003c0030 a0003c0080 a0003c0081 a0003c0082 a0003c0083 a0022c0084 a0023c0032 a0024c0033	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0013t0002 a0001c0014t0001 a0001c0015t0002 a0001c0017t0001 a0001c0017t0002 a0001c0027t0002 a0001c0028t0001 a0001c0062t0001 a0001c0063t0002 a0001c0064t0001 a0001c0065t0002 a0001c0066t0002 a0001c0067t0010 a0001c0068t0002 a0001c0069t0001 a0001c0070t0001 a0001c0071t0002 a0001c0072t0001 a0001c0073t0001 a0001c0074t0002 a0001c0075t0002 a0001c0076t0001 a0001c0079t0002 a0003c0004t0001 a0003c0004t0002 a0003c0004t0009 a0003c0030t0001 a0003c0080t0001 a0003c0081t0002 a0003c0082t0002 a0003c0083t0001 a0022c0084t0002 a0023c0032t0001 a0024c0033t0008	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0034 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0004 a0001c0001t0002g0047 a0001c0001t0002g0066 a0001c0003t0002g0005 a0001c0003t0002g0011 a0001c0003t0002g0018 a0001c0003t0002g0028 a0001c0003t0002g0051 a0001c0003t0002g0053 a0001c0003t0002g0057 a0001c0005t0001g0007 a0001c0005t0001g0020 a0001c0005t0002g0004 a0001c0013t0002g0004 a0001c0013t0002g0021 a0001c0014t0001g0010 a0001c0015t0002g0005 a0001c0015t0002g0043 a0001c0017t0001g0010 a0001c0017t0001g0029 a0001c0017t0002g0004 a0001c0027t0002g0005 a0001c0027t0002g0011 a0001c0028t0001g0025 a0001c0062t0001g0007 a0001c0063t0002g0018 a0001c0064t0001g0007 a0001c0065t0002g0004 a0001c0066t0002g0073 a0001c0067t0010g0007 a0001c0068t0002g0005 a0001c0069t0001g0039 a0001c0070t0001g0025 a0001c0071t0002g0070 a0001c0072t0001g0076 a0001c0073t0001g0007 a0001c0074t0002g0005 a0001c0075t0002g0011 a0001c0076t0001g0067 a0001c0079t0002g0058 a0003c0004t0001g0004 a0003c0004t0001g0008 a0003c0004t0001g0075 a0003c0004t0001g0080 a0003c0004t0001g0086 a0003c0004t0002g0004 a0003c0004t0002g0029 a0003c0004t0002g0032 a0003c0004t0009g0008 a0003c0030t0001g0008 a0003c0030t0001g0081 a0003c0080t0001g0004 a0003c0081t0002g0068 a0003c0082t0002g0074 a0003c0083t0001g0008 a0022c0084t0002g0004 a0023c0032t0001g0055 a0024c0033t0008g0071	245	417	0.5875	0	c.758 others(3): Show c.758G>A	p.Trp others(4): Show p.Trp253*	PRAMEF33	ENSG00000237700.2	transcript	ENST00000437300.2	protein_coding	3/4	831/1518	758/1425	253/474		chr1	TogoVar
PRM3_chr16_11268199_11278629	11273286	A A	G G	stop_lost stop_lost	HIGH	HG01496.hp1 HG02280.hp1 HG02451.hp1 others(9): Show HG01496.hp1 HG02280.hp1 HG02451.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp2 NA18906.hp1 NA20129.hp2 NA21309.hp2	a0000 a0000	a0000c0004 a0000c0007 a0000c0004 a0000c0007	a0000c0004t0001 a0000c0004t0002 a0000c0007t0002 a0000c0004t0001 a0000c0004t0002 a0000c0007t0002	a0000c0004t0001g0000 a0000c0004t0002g0000 a0000c0007t0002g0000 a0000c0004t0001g0000 a0000c0004t0002g0000 a0000c0007t0002g0000	12	414	0.0290	0	c.310 others(3): Show c.310T>C	p.Ter others(11): Show p.Ter104Argext*?	PRM3	ENSG00000178257.4	transcript	ENST00000327157.4	protein_coding	1/1	344/431	310/312	104/103		chr16	TogoVar
PRR22_chr19_5777960_5789746	5783689	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01496.hp1 HG01496.hp2 others(13): Show HG00642.hp2 HG01496.hp1 HG01496.hp2 HG02895.hp1 HG03710.hp2 NA18943.hp1 NA18944.hp2 NA18949.hp1 NA18961.hp1 NA18967.hp1 NA18977.hp2 NA18979.hp1 NA18985.hp2 NA18991.hp1 NA19062.hp1 NA19067.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0005c0008 a0005c0014 a0004c0005 a0005c0008 a0005c0014	a0004c0005t0001 a0005c0008t0001 a0005c0014t0001 a0004c0005t0001 a0005c0008t0001 a0005c0014t0001	a0004c0005t0001g0008 a0004c0005t0001g0030 a0005c0008t0001g0016 others(2): Show a0004c0005t0001g0008 a0004c0005t0001g0030 a0005c0008t0001g0016 a0005c0008t0001g0019 a0005c0014t0001g0023	16	382	0.0419	1	c.557 others(4): Show c.557dupC	p.Pro others(5): Show p.Pro187fs	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding	3/3	643/1373	557/1269	186/422		chr19	TogoVar
PRR23D1_chr8_7534627_7547450	7541827	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(57): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00639.hp2 HG01123.hp2 HG01256.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG02258.hp2 HG02273.hp2 HG02523.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03688.hp2 NA18612.hp2 NA18941.hp1 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18957.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19065.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp2 NA20752.hp2	a0000 a0000	a0000c0001 a0000c0007 a0000c0008 others(2): Show a0000c0001 a0000c0007 a0000c0008 a0000c0011 a0000c0012	a0000c0001t0003 a0000c0001t0004 a0000c0001t0006 others(8): Show a0000c0001t0003 a0000c0001t0004 a0000c0001t0006 a0000c0001t0007 a0000c0001t0008 a0000c0001t0014 a0000c0001t0018 a0000c0007t0003 a0000c0008t0004 a0000c0011t0013 a0000c0012t0003	a0000c0001t0003g0001 a0000c0001t0003g0012 a0000c0001t0004g0001 others(11): Show a0000c0001t0003g0001 a0000c0001t0003g0012 a0000c0001t0004g0001 a0000c0001t0006g0001 a0000c0001t0006g0007 a0000c0001t0006g0008 a0000c0001t0007g0007 a0000c0001t0008g0001 a0000c0001t0014g0013 a0000c0001t0018g0001 a0000c0007t0003g0001 a0000c0008t0004g0001 a0000c0011t0013g0007 a0000c0012t0003g0005	60	166	0.3615	-1	c.790 others(4): Show c.790delG	p.Val others(5): Show p.Val264fs	PRR23D1	ENSG00000255251.2	transcript	ENST00000533250.2	protein_coding	4/4	968/1588	790/840	264/279	INFO_REALIGN_3_PRIME	chr8	TogoVar
PRSS48_chr4_151272161_151296862	151279866	G G	GCAGGT GCAGGT	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(87): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp2 NA18747.hp1 NA18939.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18955.hp2 NA18956.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18975.hp2 NA18979.hp2 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19068.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0002 a0002c0004t0001g0012 a0002c0004t0001g0013 others(21): Show a0002c0004t0001g0002 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0019 a0002c0004t0001g0020 a0002c0004t0001g0025 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0001g0114 a0002c0004t0001g0115 a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0124 a0002c0004t0001g0127 a0002c0004t0001g0128 a0002c0004t0001g0131 a0002c0004t0001g0132	90	428	0.2103	5	c.127 others(12): Show c.127_131dupGTCAG	p.Ser others(4): Show p.Ser44fs	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding	2/5	144/1408	132/987	44/328	INFO_REALIGN_3_PRIME	chr4	TogoVar
PRSS48_chr4_151272161_151296862	151291451	T T	G G	stop_lost stop_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0001 a0000c0002 a0000c0005 others(4): Show a0000c0001 a0000c0002 a0000c0005 a0000c0006 a0000c0007 a0000c0008 a0002c0004	a0000c0001t0002 a0000c0001t0004 a0000c0001t0005 others(6): Show a0000c0001t0002 a0000c0001t0004 a0000c0001t0005 a0000c0002t0001 a0000c0005t0003 a0000c0006t0001 a0000c0007t0002 a0000c0008t0003 a0002c0004t0001	a0000c0001t0002g0001 a0000c0001t0002g0008 a0000c0001t0002g0010 others(100): Show a0000c0001t0002g0001 a0000c0001t0002g0008 a0000c0001t0002g0010 a0000c0001t0002g0014 a0000c0001t0002g0015 a0000c0001t0002g0026 a0000c0001t0002g0027 a0000c0001t0002g0028 a0000c0001t0002g0029 a0000c0001t0002g0030 a0000c0001t0002g0050 a0000c0001t0002g0051 a0000c0001t0002g0052 a0000c0001t0002g0053 a0000c0001t0002g0054 a0000c0001t0002g0055 a0000c0001t0002g0056 a0000c0001t0002g0057 a0000c0001t0002g0058 a0000c0001t0002g0060 a0000c0001t0002g0061 a0000c0001t0002g0063 a0000c0001t0002g0064 a0000c0001t0002g0065 a0000c0001t0002g0066 a0000c0001t0002g0067 a0000c0001t0002g0068 a0000c0001t0002g0069 a0000c0001t0002g0070 a0000c0001t0004g0001 a0000c0001t0004g0062 a0000c0001t0005g0001 a0000c0002t0001g0003 a0000c0002t0001g0006 a0000c0002t0001g0011 a0000c0002t0001g0018 a0000c0002t0001g0023 a0000c0002t0001g0024 a0000c0002t0001g0031 a0000c0002t0001g0032 a0000c0002t0001g0033 a0000c0002t0001g0034 a0000c0002t0001g0039 a0000c0002t0001g0040 a0000c0002t0001g0041 a0000c0002t0001g0042 a0000c0002t0001g0044 a0000c0002t0001g0048 a0000c0002t0001g0049 a0000c0002t0001g0076 a0000c0002t0001g0077 a0000c0002t0001g0094 a0000c0002t0001g0095 a0000c0002t0001g0096 a0000c0002t0001g0097 a0000c0002t0001g0098 a0000c0002t0001g0099 a0000c0002t0001g0100 a0000c0002t0001g0101 a0000c0002t0001g0102 a0000c0002t0001g0103 a0000c0002t0001g0104 a0000c0002t0001g0105 a0000c0002t0001g0106 a0000c0002t0001g0110 a0000c0002t0001g0111 a0000c0002t0001g0112 a0000c0002t0001g0113 a0000c0002t0001g0129 a0000c0002t0001g0130 a0000c0005t0003g0009 a0000c0005t0003g0022 a0000c0005t0003g0038 a0000c0005t0003g0081 a0000c0005t0003g0082 a0000c0006t0001g0125 a0000c0006t0001g0126 a0000c0007t0002g0059 a0000c0008t0003g0133 a0002c0004t0001g0002 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0019 a0002c0004t0001g0020 a0002c0004t0001g0025 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0001g0114 a0002c0004t0001g0115 a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0124 a0002c0004t0001g0127 a0002c0004t0001g0128 a0002c0004t0001g0131 a0002c0004t0001g0132	325	428	0.7594	0	c.985 others(3): Show c.985T>G	p.Ter others(11): Show p.Ter329Gluext*?	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding	5/5	997/1408	985/987	329/328		chr4	TogoVar
PSCA_chr8_142675495_142687725	142682113	G G	A A	stop_gained stop_gained	HIGH	HG01496.hp1 HG01516.hp1 HG01496.hp1 HG01516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0002 a0003c0005t0001g0002	2	432	0.0046	0	c.326 others(3): Show c.326G>A	p.Trp others(4): Show p.Trp109*	PSCA	ENSG00000167653.5	transcript	ENST00000301258.5	protein_coding	3/3	370/982	326/345	109/114		chr8	TogoVar
PSG8_chr19_42749233_42770678	42763988	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00609.hp2 HG00738.hp2 others(33): Show HG00280.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01175.hp2 HG01346.hp2 HG01496.hp2 HG01891.hp1 HG01993.hp2 HG02040.hp1 HG02145.hp1 HG02273.hp2 HG02293.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03579.hp2 HG03688.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18947.hp1 NA18950.hp1 NA18956.hp2 NA19240.hp2 NA20752.hp2	a0003 a0009 a0011 others(3): Show a0003 a0009 a0011 a0012 a0015 a0017	a0003c0003 a0003c0005 a0003c0013 others(6): Show a0003c0003 a0003c0005 a0003c0013 a0003c0031 a0009c0014 a0011c0029 a0012c0034 a0015c0032 a0017c0035	a0003c0003t0001 a0003c0005t0001 a0003c0013t0001 others(6): Show a0003c0003t0001 a0003c0005t0001 a0003c0013t0001 a0003c0031t0001 a0009c0014t0001 a0011c0029t0001 a0012c0034t0001 a0015c0032t0001 a0017c0035t0001	a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0158 others(17): Show a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0158 a0003c0003t0001g0165 a0003c0003t0001g0166 a0003c0003t0001g0202 a0003c0005t0001g0042 a0003c0005t0001g0043 a0003c0005t0001g0150 a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0005t0001g0153 a0003c0013t0001g0154 a0003c0013t0001g0157 a0003c0031t0001g0203 a0009c0014t0001g0045 a0011c0029t0001g0205 a0012c0034t0001g0156 a0015c0032t0001g0155 a0017c0035t0001g0206	36	438	0.0822	-1	c.357 others(4): Show c.357delC	p.Tyr others(5): Show p.Tyr120fs	PSG8	ENSG00000124467.20	transcript	ENST00000306511.5	protein_coding	2/5	454/1440	357/1281	119/426		chr19	TogoVar
PTPN23_chr3_47376021_47418435	47410831	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00597.hp1 HG00738.hp2 others(33): Show HG00140.hp2 HG00597.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01496.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02135.hp1 HG02135.hp2 HG02976.hp1 HG03516.hp2 HG03654.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18941.hp2 NA18944.hp2 NA18951.hp1 NA18977.hp1 NA18987.hp2 NA18988.hp2 NA19000.hp1 NA19005.hp1 NA19058.hp1 NA19058.hp2 NA19084.hp1 NA19090.hp1	a0005 a0006 a0005 a0006	a0005c0007 a0005c0010 a0005c0029 others(7): Show a0005c0007 a0005c0010 a0005c0029 a0005c0030 a0005c0031 a0005c0045 a0006c0011 a0006c0015 a0006c0023 a0006c0042	a0005c0007t0001 a0005c0010t0001 a0005c0029t0001 others(7): Show a0005c0007t0001 a0005c0010t0001 a0005c0029t0001 a0005c0030t0001 a0005c0031t0001 a0005c0045t0001 a0006c0011t0001 a0006c0015t0001 a0006c0023t0001 a0006c0042t0001	a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0016 others(31): Show a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0016 a0005c0007t0001g0061 a0005c0007t0001g0063 a0005c0007t0001g0069 a0005c0007t0001g0082 a0005c0007t0001g0099 a0005c0007t0001g0117 a0005c0007t0001g0119 a0005c0010t0001g0001 a0005c0010t0001g0002 a0005c0010t0001g0012 a0005c0010t0001g0041 a0005c0010t0001g0053 a0005c0010t0001g0079 a0005c0010t0001g0089 a0005c0010t0001g0116 a0005c0029t0001g0021 a0005c0030t0001g0236 a0005c0031t0001g0134 a0005c0045t0001g0005 a0006c0011t0001g0027 a0006c0011t0001g0111 a0006c0011t0001g0132 a0006c0011t0001g0147 a0006c0011t0001g0165 a0006c0011t0001g0168 a0006c0011t0001g0203 a0006c0011t0001g0205 a0006c0015t0001g0138 a0006c0015t0001g0208 a0006c0023t0001g0186 a0006c0042t0001g0176	36	332	0.1084	1	c.304 others(5): Show c.3040dupC	p.Leu others(6): Show p.Leu1014fs	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding	20/25	3117/5237	3041/4911	1014/1636	INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPN23_chr3_47376021_47418435	47411089	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18987.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0002 a0004 a0005 others(6): Show a0002 a0004 a0005 a0006 a0010 a0011 a0013 a0014 a0017	a0002c0003 a0002c0008 a0002c0009 others(19): Show a0002c0003 a0002c0008 a0002c0009 a0002c0012 a0002c0017 a0002c0032 a0002c0033 a0004c0004 a0004c0016 a0004c0026 a0005c0007 a0005c0029 a0005c0030 a0005c0031 a0005c0045 a0006c0011 a0006c0042 a0010c0048 a0011c0019 a0013c0022 a0014c0040 a0017c0025	a0002c0003t0001 a0002c0008t0001 a0002c0008t0002 others(20): Show a0002c0003t0001 a0002c0008t0001 a0002c0008t0002 a0002c0009t0001 a0002c0012t0001 a0002c0017t0001 a0002c0032t0001 a0002c0033t0001 a0004c0004t0001 a0004c0016t0001 a0004c0026t0001 a0005c0007t0001 a0005c0029t0001 a0005c0030t0001 a0005c0031t0001 a0005c0045t0001 a0006c0011t0001 a0006c0042t0001 a0010c0048t0001 a0011c0019t0001 a0013c0022t0001 a0014c0040t0001 a0017c0025t0001	a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0012 others(118): Show a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0020 a0002c0003t0001g0022 a0002c0003t0001g0037 a0002c0003t0001g0040 a0002c0003t0001g0042 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0001g0058 a0002c0003t0001g0060 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0081 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0088 a0002c0003t0001g0094 a0002c0003t0001g0100 a0002c0003t0001g0118 a0002c0003t0001g0120 a0002c0003t0001g0219 a0002c0003t0001g0240 a0002c0008t0001g0004 a0002c0008t0001g0007 a0002c0008t0001g0113 a0002c0008t0001g0222 a0002c0008t0001g0225 a0002c0008t0001g0228 a0002c0008t0001g0230 a0002c0008t0001g0231 a0002c0008t0002g0235 a0002c0009t0001g0006 a0002c0009t0001g0009 a0002c0009t0001g0125 a0002c0009t0001g0128 a0002c0009t0001g0130 a0002c0009t0001g0131 a0002c0009t0001g0139 a0002c0009t0001g0141 a0002c0012t0001g0005 a0002c0012t0001g0103 a0002c0012t0001g0104 a0002c0012t0001g0107 a0002c0012t0001g0121 a0002c0017t0001g0154 a0002c0017t0001g0161 a0002c0032t0001g0004 a0002c0033t0001g0133 a0004c0004t0001g0003 a0004c0004t0001g0015 a0004c0004t0001g0024 a0004c0004t0001g0027 a0004c0004t0001g0028 a0004c0004t0001g0031 a0004c0004t0001g0032 a0004c0004t0001g0115 a0004c0004t0001g0127 a0004c0004t0001g0142 a0004c0004t0001g0156 a0004c0004t0001g0158 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0167 a0004c0004t0001g0169 a0004c0004t0001g0172 a0004c0004t0001g0179 a0004c0004t0001g0183 a0004c0004t0001g0187 a0004c0004t0001g0189 a0004c0004t0001g0194 a0004c0004t0001g0195 a0004c0004t0001g0196 a0004c0004t0001g0200 a0004c0004t0001g0209 a0004c0004t0001g0212 a0004c0004t0001g0213 a0004c0004t0001g0214 a0004c0004t0001g0216 a0004c0004t0001g0238 a0004c0016t0001g0110 a0004c0016t0001g0166 a0004c0026t0001g0191 a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0016 a0005c0007t0001g0061 a0005c0007t0001g0063 a0005c0007t0001g0069 a0005c0007t0001g0082 a0005c0007t0001g0099 a0005c0007t0001g0117 a0005c0007t0001g0119 a0005c0029t0001g0021 a0005c0030t0001g0236 a0005c0031t0001g0134 a0005c0045t0001g0005 a0006c0011t0001g0027 a0006c0011t0001g0111 a0006c0011t0001g0132 a0006c0011t0001g0147 a0006c0011t0001g0165 a0006c0011t0001g0168 a0006c0011t0001g0203 a0006c0011t0001g0205 a0006c0042t0001g0176 a0010c0048t0001g0239 a0011c0019t0001g0030 a0013c0022t0001g0174 a0014c0040t0001g0003 a0017c0025t0001g0190	135	332	0.4066	1	c.329 others(5): Show c.3296dupC	p.Arg others(6): Show p.Arg1100fs	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding	20/25	3373/5237	3297/4911	1099/1636	INFO_REALIGN_3_PRIME	chr3	TogoVar
PYGL_chr14_50900217_50949483	50911872	CT CT	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0015 a0001c0017 a0001c0021 a0002c0004 a0002c0008 a0002c0016 a0003c0010 a0003c0019 a0004c0011 a0004c0022 a0005c0013 a0007c0023 a0008c0020	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002 a0001c0009t0002 a0001c0009t0003 a0001c0012t0002 a0001c0015t0003 a0001c0017t0002 a0001c0021t0002 a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 a0002c0016t0003 a0003c0010t0002 a0003c0010t0003 a0003c0019t0002 a0004c0011t0002 a0004c0022t0002 a0005c0013t0002 a0007c0023t0002 a0008c0020t0001	a0001c0001t0002g0010 a0001c0001t0002g0100 a0001c0001t0002g0114 others(188): Show a0001c0001t0002g0010 a0001c0001t0002g0100 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0155 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0003g0121 a0001c0001t0003g0138 a0001c0001t0005g0291 a0001c0002t0001g0221 a0001c0002t0003g0001 a0001c0002t0003g0005 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0036 a0001c0002t0003g0039 a0001c0002t0003g0041 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0051 a0001c0002t0003g0088 a0001c0002t0003g0113 a0001c0002t0003g0132 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0190 a0001c0002t0003g0211 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0227 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0253 a0001c0002t0003g0260 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0003t0002g0006 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0054 a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0002g0068 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0005t0002g0004 a0001c0005t0002g0015 a0001c0005t0002g0040 a0001c0005t0002g0195 a0001c0005t0002g0196 a0001c0005t0002g0197 a0001c0005t0002g0198 a0001c0005t0002g0199 a0001c0005t0002g0200 a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0002g0204 a0001c0005t0002g0205 a0001c0006t0001g0166 a0001c0006t0002g0011 a0001c0006t0002g0033 a0001c0006t0002g0048 a0001c0006t0002g0135 a0001c0006t0002g0141 a0001c0006t0002g0156 a0001c0006t0002g0157 a0001c0006t0002g0167 a0001c0006t0002g0171 a0001c0006t0002g0180 a0001c0006t0002g0201 a0001c0006t0002g0252 a0001c0006t0002g0273 a0001c0006t0002g0274 a0001c0007t0001g0284 a0001c0007t0002g0052 a0001c0007t0002g0276 a0001c0007t0002g0277 a0001c0007t0002g0278 a0001c0007t0002g0282 a0001c0007t0002g0283 a0001c0007t0002g0285 a0001c0007t0002g0286 a0001c0007t0002g0287 a0001c0007t0002g0288 a0001c0009t0002g0056 a0001c0009t0002g0057 a0001c0009t0002g0063 a0001c0009t0003g0067 a0001c0009t0003g0077 a0001c0009t0003g0087 a0001c0012t0002g0055 a0001c0012t0002g0072 a0001c0012t0002g0073 a0001c0015t0003g0042 a0001c0017t0002g0078 a0001c0021t0002g0280 a0002c0004t0001g0028 a0002c0004t0001g0091 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0099 a0002c0004t0001g0101 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0161 a0002c0004t0001g0162 a0002c0004t0001g0163 a0002c0004t0001g0164 a0002c0004t0001g0264 a0002c0008t0001g0024 a0002c0008t0001g0025 a0002c0008t0001g0064 a0002c0008t0001g0074 a0002c0008t0001g0075 a0002c0008t0001g0076 a0002c0008t0003g0071 a0002c0016t0003g0070 a0003c0010t0002g0019 a0003c0010t0002g0059 a0003c0010t0003g0020 a0003c0010t0003g0021 a0003c0010t0003g0058 a0003c0010t0003g0060 a0003c0019t0002g0271 a0004c0011t0002g0034 a0004c0011t0002g0168 a0004c0011t0002g0169 a0004c0022t0002g0279 a0005c0013t0002g0008 a0007c0023t0002g0289 a0008c0020t0001g0281	253	390	0.6487	-1	c.182 others(7): Show c.1828-2delA		PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding	15/19					chr14	TogoVar
PZP_chr12_9143840_9213395	9196687	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	334	0.0030	0	c.868 others(5): Show c.868-2A>T		PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	8/35					chr12	TogoVar
RECQL5_chr17_75621854_75672154	75630838	C C	CTG CTG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(144): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0021 others(6): Show a0001c0001 a0001c0002 a0001c0021 a0002c0003 a0002c0013 a0004c0009 a0009c0015 a0011c0025 a0012c0022	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0021t0001 a0002c0003t0001 a0002c0013t0001 a0004c0009t0001 a0009c0015t0001 a0011c0025t0001 a0012c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(111): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0010g0234 a0001c0002t0001g0199 a0001c0002t0001g0281 a0001c0002t0001g0290 a0001c0002t0003g0258 a0001c0002t0005g0232 a0001c0021t0001g0246 a0002c0003t0001g0147 a0002c0013t0001g0171 a0002c0013t0001g0269 a0004c0009t0001g0131 a0004c0009t0001g0228 a0009c0015t0001g0124 a0009c0015t0001g0125 a0011c0025t0001g0260 a0012c0022t0001g0217	147	378	0.3889	2	c.158 others(15): Show c.1586-3_1586-2dupCA		RECQL5	ENSG00000108469.15	transcript	ENST00000317905.10	protein_coding	11/19					chr17	TogoVar
RFPL1_chr22_29433583_29447455	29441895	C C	T T	stop_gained stop_gained	HIGH	HG00642.hp2 HG01074.hp1 HG01192.hp2 others(32): Show HG00642.hp2 HG01074.hp1 HG01192.hp2 HG01255.hp1 HG01496.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02886.hp2 HG02970.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 NA18939.hp1 NA18940.hp1 NA18982.hp1 NA18983.hp1 NA19043.hp2 NA19070.hp1 NA19240.hp2 NA20805.hp2	a0003 a0005 a0011 a0003 a0005 a0011	a0003c0003 a0005c0009 a0011c0012 a0003c0003 a0005c0009 a0011c0012	a0003c0003t0003 a0005c0009t0003 a0011c0012t0003 a0003c0003t0003 a0005c0009t0003 a0011c0012t0003	a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0003g0014 others(4): Show a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0003g0014 a0003c0003t0003g0021 a0003c0003t0003g0022 a0005c0009t0003g0009 a0011c0012t0003g0020	35	444	0.0788	0	c.727 others(3): Show c.727C>T	p.Gln others(4): Show p.Gln243*	RFPL1	ENSG00000128250.5	transcript	ENST00000354373.2	protein_coding	2/2	936/1496	727/954	243/317		chr22	TogoVar
RHBG_chr1_156364211_156390219	156384556	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(9): Show a0002 a0003 a0005 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0017	a0002c0002 a0002c0008 a0003c0004 others(16): Show a0002c0002 a0002c0008 a0003c0004 a0003c0009 a0003c0012 a0003c0015 a0005c0006 a0005c0007 a0007c0011 a0007c0014 a0008c0010 a0008c0022 a0010c0026 a0011c0017 a0012c0016 a0013c0023 a0014c0020 a0015c0021 a0017c0019	a0002c0002t0001 a0002c0008t0001 a0003c0004t0001 others(16): Show a0002c0002t0001 a0002c0008t0001 a0003c0004t0001 a0003c0009t0001 a0003c0012t0001 a0003c0015t0001 a0005c0006t0001 a0005c0007t0001 a0007c0011t0001 a0007c0014t0001 a0008c0010t0001 a0008c0022t0001 a0010c0026t0001 a0011c0017t0001 a0012c0016t0001 a0013c0023t0001 a0014c0020t0001 a0015c0021t0001 a0017c0019t0001	a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 others(130): Show a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0144 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0213 a0002c0002t0001g0224 a0002c0008t0001g0009 a0002c0008t0001g0173 a0002c0008t0001g0174 a0002c0008t0001g0184 a0002c0008t0001g0188 a0003c0004t0001g0002 a0003c0004t0001g0010 a0003c0004t0001g0024 a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0102 a0003c0004t0001g0105 a0003c0004t0001g0106 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0111 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0117 a0003c0004t0001g0118 a0003c0004t0001g0119 a0003c0004t0001g0121 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0197 a0003c0009t0001g0002 a0003c0009t0001g0010 a0003c0009t0001g0122 a0003c0012t0001g0034 a0003c0012t0001g0107 a0003c0012t0001g0110 a0003c0015t0001g0002 a0005c0006t0001g0028 a0005c0006t0001g0043 a0005c0006t0001g0066 a0005c0006t0001g0067 a0005c0006t0001g0070 a0005c0006t0001g0075 a0005c0006t0001g0076 a0005c0006t0001g0083 a0005c0006t0001g0086 a0005c0006t0001g0089 a0005c0006t0001g0169 a0005c0006t0001g0177 a0005c0006t0001g0198 a0005c0006t0001g0215 a0005c0006t0001g0216 a0005c0006t0001g0217 a0005c0006t0001g0218 a0005c0007t0001g0013 a0005c0007t0001g0029 a0005c0007t0001g0078 a0005c0007t0001g0080 a0005c0007t0001g0081 a0005c0007t0001g0163 a0005c0007t0001g0209 a0005c0007t0001g0210 a0005c0007t0001g0211 a0005c0007t0001g0214 a0005c0007t0001g0219 a0005c0007t0001g0223 a0005c0007t0001g0234 a0007c0011t0001g0053 a0007c0011t0001g0058 a0007c0011t0001g0061 a0007c0011t0001g0062 a0007c0011t0001g0090 a0007c0011t0001g0152 a0007c0014t0001g0028 a0007c0014t0001g0149 a0008c0010t0001g0020 a0008c0010t0001g0189 a0008c0010t0001g0212 a0008c0010t0001g0220 a0008c0022t0001g0181 a0010c0026t0001g0003 a0011c0017t0001g0033 a0012c0016t0001g0141 a0013c0023t0001g0014 a0014c0020t0001g0221 a0015c0021t0001g0003 a0017c0019t0001g0225	232	438	0.5297	1	c.127 others(5): Show c.1271dupC	p.Asp others(5): Show p.Asp425fs	RHBG	ENSG00000132677.13	transcript	ENST00000537040.6	protein_coding	9/10	1311/1790	1272/1377	424/458	INFO_REALIGN_3_PRIME	chr1	TogoVar
RPL29_chr3_51988522_52000895	51993865	T T	TGGCC TGGCC	frameshift_variant frameshift_variant	HIGH	HG01496.hp2 HG02015.hp1 NA18969.hp2 others(3): Show HG01496.hp2 HG02015.hp1 NA18969.hp2 NA18994.hp1 NA19065.hp2 NA19070.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0001 a0000c0005t0001	a0000c0005t0001g0007 a0000c0005t0001g0007	6	321	0.0187	4	c.363 others(11): Show c.363_364insGGCC	p.Lys others(5): Show p.Lys122fs	RPL29	ENSG00000162244.12	transcript	ENST00000294189.11	protein_coding	4/4	410/754	363/480	121/159		chr3	TogoVar
RXFP2_chr13_31734526_31808389	31786554	T T	TAA TAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00639.hp2 others(99): Show HG00099.hp2 HG00280.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01975.hp1 HG02004.hp1 HG02109.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18950.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18991.hp2 NA18994.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0002c0012 a0003c0005 others(2): Show a0001c0001 a0002c0012 a0003c0005 a0005c0009 a0009c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0012t0002 a0003c0005t0002 a0005c0009t0001 a0009c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0367 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0230 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0002c0012t0002g0124 a0003c0005t0002g0105 a0003c0005t0002g0241 a0003c0005t0002g0242 a0005c0009t0001g0174 a0009c0006t0001g0258	102	386	0.2643	2	c.100 others(15): Show c.1002-3_1002-2dupAA		RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr13	TogoVar
SCAPER_chr15_76342904_76910340	76883817	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show HG00140.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0008 a0010 a0011 a0012	a0002c0002 a0002c0022 a0003c0003 others(5): Show a0002c0002 a0002c0022 a0003c0003 a0005c0011 a0008c0015 a0010c0023 a0011c0024 a0012c0025	a0002c0002t0002 a0002c0022t0002 a0003c0003t0002 others(9): Show a0002c0002t0002 a0002c0022t0002 a0003c0003t0002 a0003c0003t0005 a0003c0003t0006 a0003c0003t0007 a0003c0003t0011 a0005c0011t0002 a0008c0015t0002 a0010c0023t0002 a0011c0024t0002 a0012c0025t0002	a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0022t0002g0290 a0003c0003t0002g0186 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0191 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0198 a0003c0003t0002g0199 a0003c0003t0002g0200 a0003c0003t0002g0201 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0206 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0209 a0003c0003t0002g0210 a0003c0003t0002g0211 a0003c0003t0002g0212 a0003c0003t0002g0294 a0003c0003t0005g0195 a0003c0003t0006g0196 a0003c0003t0007g0250 a0003c0003t0011g0312 a0005c0011t0002g0225 a0005c0011t0002g0275 a0005c0011t0002g0285 a0008c0015t0002g0220 a0008c0015t0002g0277 a0010c0023t0002g0229 a0011c0024t0002g0284 a0012c0025t0002g0263	117	312	0.3750	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/32	102/5033	1/4203	1/1400		chr15	TogoVar
SCRN3_chr2_174390730_174434575	174427852	TTCAAATT others(6): Show TTCAAATTTATCAG	T T	frameshift_variant frameshift_variant	HIGH	HG00323.hp2 HG00558.hp1 HG00639.hp2 others(85): Show HG00323.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18954.hp2 NA18955.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19076.hp2 NA19080.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0000 a0000	a0000c0002 a0000c0004 a0000c0008 a0000c0002 a0000c0004 a0000c0008	a0000c0002t0002 a0000c0002t0004 a0000c0002t0012 others(2): Show a0000c0002t0002 a0000c0002t0004 a0000c0002t0012 a0000c0004t0002 a0000c0008t0002	a0000c0002t0002g0002 a0000c0002t0002g0009 a0000c0002t0002g0010 others(47): Show a0000c0002t0002g0002 a0000c0002t0002g0009 a0000c0002t0002g0010 a0000c0002t0002g0016 a0000c0002t0002g0017 a0000c0002t0002g0023 a0000c0002t0002g0053 a0000c0002t0002g0054 a0000c0002t0002g0055 a0000c0002t0002g0056 a0000c0002t0002g0059 a0000c0002t0002g0066 a0000c0002t0002g0067 a0000c0002t0002g0068 a0000c0002t0002g0215 a0000c0002t0002g0216 a0000c0002t0002g0217 a0000c0002t0002g0218 a0000c0002t0002g0220 a0000c0002t0002g0221 a0000c0002t0002g0222 a0000c0002t0002g0224 a0000c0002t0002g0225 a0000c0002t0002g0226 a0000c0002t0002g0227 a0000c0002t0002g0228 a0000c0002t0004g0006 a0000c0002t0004g0024 a0000c0002t0004g0060 a0000c0002t0004g0061 a0000c0002t0004g0062 a0000c0002t0004g0063 a0000c0002t0004g0064 a0000c0002t0004g0065 a0000c0002t0004g0069 a0000c0002t0004g0070 a0000c0002t0004g0086 a0000c0002t0012g0010 a0000c0004t0002g0011 a0000c0004t0002g0025 a0000c0004t0002g0071 a0000c0004t0002g0073 a0000c0004t0002g0074 a0000c0004t0002g0075 a0000c0004t0002g0076 a0000c0004t0002g0077 a0000c0004t0002g0078 a0000c0004t0002g0079 a0000c0004t0002g0081 a0000c0008t0002g0146	88	364	0.2418	-13	c.125 others(22): Show c.1251_1263delTTTATCAGTCAAA	p.Asn others(5): Show p.Asn417fs	SCRN3	ENSG00000144306.15	transcript	ENST00000272732.11	protein_coding	8/8	1348/3052	1251/1275	417/424	INFO_REALIGN_3_PRIME	chr2	TogoVar
SERPINB11_chr18_63697960_63728893	63712604	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0002 a0001c0005 a0001c0009 others(16): Show a0001c0002 a0001c0005 a0001c0009 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0033 a0004c0004 a0004c0007 a0004c0010 a0004c0017 a0004c0023 a0004c0024 a0013c0032	a0001c0002t0001 a0001c0005t0002 a0001c0005t0005 others(18): Show a0001c0002t0001 a0001c0005t0002 a0001c0005t0005 a0001c0009t0001 a0001c0019t0004 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0022t0006 a0001c0028t0002 a0001c0029t0002 a0001c0030t0001 a0001c0031t0001 a0001c0033t0002 a0004c0004t0002 a0004c0007t0002 a0004c0010t0001 a0004c0017t0002 a0004c0023t0002 a0004c0024t0002 a0013c0032t0002	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0005t0002g0001 a0001c0005t0002g0026 a0001c0005t0002g0040 a0001c0005t0002g0042 a0001c0005t0002g0100 a0001c0005t0002g0106 a0001c0005t0002g0135 a0001c0005t0005g0001 a0001c0009t0001g0010 a0001c0009t0001g0015 a0001c0019t0004g0010 a0001c0020t0002g0001 a0001c0021t0002g0044 a0001c0021t0002g0116 a0001c0022t0001g0104 a0001c0022t0006g0001 a0001c0028t0002g0010 a0001c0029t0002g0001 a0001c0030t0001g0044 a0001c0031t0001g0001 a0001c0033t0002g0119 a0004c0004t0002g0005 a0004c0004t0002g0007 a0004c0004t0002g0016 a0004c0004t0002g0023 a0004c0004t0002g0027 a0004c0004t0002g0043 a0004c0004t0002g0096 a0004c0004t0002g0099 a0004c0004t0002g0117 a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0125 a0004c0004t0002g0132 a0004c0004t0002g0133 a0004c0007t0002g0011 a0004c0007t0002g0022 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0010t0001g0023 a0004c0017t0002g0118 a0004c0017t0002g0124 a0004c0023t0002g0095 a0004c0024t0002g0050 a0013c0032t0002g0127	204	422	0.4834	0	c.268 others(3): Show c.268G>T	p.Glu others(3): Show p.Glu90*	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	4/8	330/1735	268/1179	90/392		chr18	TogoVar
SETBP1_chr18_44675888_45073510	45063530	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01496.hp2 HG01978.hp2 HG02004.hp2 others(5): Show HG01496.hp2 HG01978.hp2 HG02004.hp2 HG02809.hp1 HG03516.hp2 NA19000.hp1 NA19000.hp2 NA19083.hp2	a0005 a0006 a0007 a0005 a0006 a0007	a0005c0006 a0006c0007 a0007c0008 a0005c0006 a0006c0007 a0007c0008	a0005c0006t0001 a0005c0006t0003 a0005c0006t0022 others(3): Show a0005c0006t0001 a0005c0006t0003 a0005c0006t0022 a0006c0007t0002 a0006c0007t0023 a0007c0008t0002	a0005c0006t0001g0007 a0005c0006t0001g0075 a0005c0006t0003g0022 others(5): Show a0005c0006t0001g0007 a0005c0006t0001g0075 a0005c0006t0003g0022 a0005c0006t0022g0089 a0006c0007t0002g0114 a0006c0007t0023g0062 a0007c0008t0002g0080 a0007c0008t0002g0086	8	140	0.0571	1	c.462 others(5): Show c.4628dupC	p.Leu others(6): Show p.Leu1544fs	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	6/6	4935/9909	4629/4791	1543/1596	INFO_REALIGN_3_PRIME	chr18	TogoVar
SHISA7_chr19_55423740_55448300	55433477	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01175.hp1 HG01175.hp2 HG01261.hp1 others(7): Show HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01496.hp2 HG01981.hp2 NA18989.hp2 NA19000.hp2 NA19030.hp1 NA19062.hp1 NA20752.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0002 a0000c0002t0007 others(1): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0007 a0000c0002t0037	a0000c0002t0001g0064 a0000c0002t0001g0070 a0000c0002t0001g0089 others(7): Show a0000c0002t0001g0064 a0000c0002t0001g0070 a0000c0002t0001g0089 a0000c0002t0001g0093 a0000c0002t0001g0095 a0000c0002t0001g0105 a0000c0002t0002g0121 a0000c0002t0002g0122 a0000c0002t0007g0171 a0000c0002t0037g0176	10	372	0.0269	1	c.129 others(5): Show c.1295dupC	p.Arg others(5): Show p.Arg433fs	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	4/4	1732/6470	1295/1617	432/538		chr19	TogoVar
SIGLEC11_chr19_49943985_49966172	49960562	TAGAA TAGAA	T T	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG00733.hp1 HG00735.hp2 others(62): Show HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG04199.hp1 HG06807.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0004 a0007 a0012 others(3): Show a0004 a0007 a0012 a0014 a0017 a0018	a0004c0004 a0004c0008 a0004c0015 others(16): Show a0004c0004 a0004c0008 a0004c0015 a0004c0021 a0004c0022 a0004c0030 a0004c0032 a0004c0039 a0007c0009 a0007c0011 a0007c0043 a0007c0044 a0007c0045 a0007c0046 a0012c0025 a0012c0028 a0014c0026 a0017c0023 a0018c0047	a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 others(18): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0008t0001 a0004c0015t0001 a0004c0021t0006 a0004c0022t0001 a0004c0030t0001 a0004c0032t0001 a0004c0039t0001 a0007c0009t0003 a0007c0011t0004 a0007c0043t0004 a0007c0044t0003 a0007c0045t0003 a0007c0046t0004 a0012c0025t0001 a0012c0028t0014 a0014c0026t0001 a0017c0023t0001 a0018c0047t0001	a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0014 others(33): Show a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0014 a0004c0004t0001g0112 a0004c0004t0001g0114 a0004c0004t0001g0115 a0004c0004t0002g0040 a0004c0004t0005g0111 a0004c0008t0001g0022 a0004c0008t0001g0039 a0004c0008t0001g0041 a0004c0008t0001g0110 a0004c0015t0001g0038 a0004c0015t0001g0107 a0004c0021t0006g0108 a0004c0021t0006g0109 a0004c0022t0001g0116 a0004c0022t0001g0117 a0004c0030t0001g0056 a0004c0032t0001g0070 a0004c0039t0001g0113 a0007c0009t0003g0011 a0007c0009t0003g0145 a0007c0011t0004g0049 a0007c0011t0004g0146 a0007c0011t0004g0147 a0007c0043t0004g0142 a0007c0044t0003g0143 a0007c0045t0003g0144 a0007c0046t0004g0148 a0012c0025t0001g0048 a0012c0028t0014g0054 a0014c0026t0001g0149 a0014c0026t0001g0150 a0017c0023t0001g0042 a0018c0047t0001g0151	65	452	0.1438	-4	c.446 others(11): Show c.446_449delTTCT	p.Phe others(5): Show p.Phe149fs	SIGLEC11	ENSG00000161640.15	transcript	ENST00000447370.6	protein_coding	2/11	540/3173	446/2097	149/698		chr19	TogoVar
SIGLEC12_chr19_51486227_51506800	51501537	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0008 a0019 a0020	a0001c0002 a0001c0003 a0001c0010 others(23): Show a0001c0002 a0001c0003 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0020 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0003c0016 a0003c0017 a0003c0025 a0003c0048 a0003c0052 a0005c0005 a0005c0029 a0005c0030 a0008c0018 a0019c0031 a0020c0040	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0010t0002 a0001c0012t0002 a0001c0014t0003 a0001c0019t0003 a0001c0020t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0048t0001 a0003c0052t0002 a0005c0005t0001 a0005c0029t0001 a0005c0030t0003 a0008c0018t0001 a0019c0031t0001 a0020c0040t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0012 others(92): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0003g0062 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0005g0032 a0001c0002t0005g0095 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0027 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0066 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0112 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0010t0002g0010 a0001c0012t0002g0028 a0001c0012t0002g0069 a0001c0012t0002g0084 a0001c0014t0003g0024 a0001c0019t0003g0035 a0001c0020t0001g0036 a0001c0032t0001g0064 a0001c0033t0001g0065 a0001c0034t0001g0111 a0001c0035t0001g0068 a0001c0036t0001g0070 a0001c0037t0001g0093 a0001c0038t0001g0108 a0001c0039t0001g0109 a0003c0016t0001g0169 a0003c0016t0005g0049 a0003c0017t0006g0048 a0003c0017t0006g0168 a0003c0025t0005g0050 a0003c0048t0001g0151 a0003c0052t0002g0170 a0005c0005t0001g0017 a0005c0005t0001g0020 a0005c0005t0001g0026 a0005c0005t0001g0056 a0005c0005t0001g0057 a0005c0005t0001g0058 a0005c0005t0001g0059 a0005c0029t0001g0054 a0005c0030t0003g0055 a0008c0018t0001g0052 a0008c0018t0001g0053 a0019c0031t0001g0060 a0020c0040t0001g0113	229	432	0.5301	1	c.196 others(4): Show c.196dupG	p.Ala others(4): Show p.Ala66fs	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	263/2269	196/1788	66/595		chr19	TogoVar
SIGLEC12_chr19_51486227_51506800	51501649	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03831.hp1 HG06807.hp2 NA18906.hp1 NA18944.hp2 NA18956.hp2 NA19002.hp1 NA19030.hp2 NA19043.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0003 a0003	a0003c0006 a0003c0007 a0003c0009 others(12): Show a0003c0006 a0003c0007 a0003c0009 a0003c0011 a0003c0013 a0003c0016 a0003c0017 a0003c0025 a0003c0026 a0003c0027 a0003c0048 a0003c0049 a0003c0050 a0003c0051 a0003c0052	a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 others(15): Show a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 a0003c0009t0002 a0003c0011t0002 a0003c0013t0001 a0003c0013t0003 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0026t0002 a0003c0027t0001 a0003c0048t0001 a0003c0049t0004 a0003c0050t0001 a0003c0051t0003 a0003c0052t0002	a0003c0006t0001g0153 a0003c0006t0001g0156 a0003c0006t0001g0157 others(29): Show a0003c0006t0001g0153 a0003c0006t0001g0156 a0003c0006t0001g0157 a0003c0006t0001g0158 a0003c0006t0001g0167 a0003c0006t0004g0015 a0003c0007t0002g0009 a0003c0007t0002g0152 a0003c0009t0002g0016 a0003c0009t0002g0159 a0003c0011t0002g0046 a0003c0011t0002g0047 a0003c0011t0002g0160 a0003c0011t0002g0166 a0003c0013t0001g0162 a0003c0013t0001g0165 a0003c0013t0003g0163 a0003c0013t0003g0164 a0003c0016t0001g0169 a0003c0016t0005g0049 a0003c0017t0006g0048 a0003c0017t0006g0168 a0003c0025t0005g0050 a0003c0026t0002g0173 a0003c0026t0002g0174 a0003c0027t0001g0171 a0003c0027t0001g0172 a0003c0048t0001g0151 a0003c0049t0004g0155 a0003c0050t0001g0154 a0003c0051t0003g0161 a0003c0052t0002g0170	53	432	0.1227	0	c.85C others(2): Show c.85C>T	p.Gln others(3): Show p.Gln29*	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	152/2269	85/1788	29/595		chr19	TogoVar
SLC11A1_chr2_218377273_218401894	218391401	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01192.hp1 HG01496.hp1 HG01978.hp1 others(8): Show HG01192.hp1 HG01496.hp1 HG01978.hp1 HG02809.hp2 HG03927.hp1 NA18964.hp2 NA18974.hp1 NA19011.hp1 NA19011.hp2 NA19070.hp1 NA19090.hp1	a0003 a0003	a0003c0009 a0003c0013 a0003c0015 others(1): Show a0003c0009 a0003c0013 a0003c0015 a0003c0024	a0003c0009t0001 a0003c0013t0004 a0003c0013t0007 others(2): Show a0003c0009t0001 a0003c0013t0004 a0003c0013t0007 a0003c0015t0002 a0003c0024t0002	a0003c0009t0001g0001 a0003c0009t0001g0012 a0003c0009t0001g0135 others(5): Show a0003c0009t0001g0001 a0003c0009t0001g0012 a0003c0009t0001g0135 a0003c0013t0004g0086 a0003c0013t0007g0002 a0003c0015t0002g0008 a0003c0015t0002g0032 a0003c0024t0002g0003	11	376	0.0293	1	c.107 others(5): Show c.1074dupC	p.Ala others(5): Show p.Ala359fs	SLC11A1	ENSG00000018280.17	transcript	ENST00000233202.11	protein_coding	11/15	1171/3608	1075/1653	359/550	INFO_REALIGN_3_PRIME	chr2	TogoVar

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