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 (≤).

Sort By

Select column to sort.

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Ascending or descending.

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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	distance	status	chr	external
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(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
OR8U1_chr11_56370624_56381553	56376094	A A	ATTTCACA others(7598): Show ATTTCACACCATCCTCACCTTCTGCCTCTCCTATTGCCACTCCAACATTG TCAACCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCA GACACTCGCTTCAAACAGCTATGGATTTTGGCCTGTGCTGGTATCACATT CATCTGCTCTGTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTG CCATCCTGAGGATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACC TGTAGCTCTCACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTT TATGTACTTACAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGG CCTCTGTCTTCTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTAC AGTCTCAGGAACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAA TAGAAACCATGCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGA CAAAAATGGGCATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAAC TATTGGAATACCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTG AAAAAATTATTCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATT TCATATGTAGAAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAA TGTATTTTTAAAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCT GCCAGGAATAGAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGT AAGAGTTCTTTAACAATATGTTAAGACTATTTTATAGTATATTTAAAATT AAATTTAATAATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGA GGTAATTTTTCTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTG ATTTTCACAATGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGG GTGGAGGCCAGGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCC TCACTCAAAAAATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGA GAGCCGGTGTTAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATT CATTAAGATCAAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTA TGGTTTTCTCTTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATC CCAAGTTAAATTACGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAA ATGTTTTGGGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAAT TTACTGATTTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGT GATAGCATTTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACT TCATCTCTCTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTA CTTTCATTATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAG CTAATAGTTGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTT TTAATTAGAGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGC TGAATTTATGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTT TTATTTCCTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAG AAATTTAATTTCTGATGTGTTAAATATGTACACACACAAACAGACACACA GACATGCATTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACT TATCACCATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACAT ACATACATACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTAT TATCATAATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGA AATATACAATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGT AGACTATATATACACAGACATATGACTATATCAATAATATGATGATACAT CAATAAATAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCG TGTATTTCTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGA AAGACATTCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTA TCTTAATCTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATAT AATTTGACTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAG TTTGGACATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCAT GTGTTAAACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGACTT TTCGCTGTCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTT TTTGGTGTTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGT TAATGCTTTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGT ATTTTCCCCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTT ACTGGTACACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCC CAGAAGTCGCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTG TTTTCTAGAATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTC TGTCTTCAGCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCA TTTCAGGTATTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAA AATTGCTATAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCA ATATATTAGAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGT ACCTTGATAAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATT ATTTTTTCAGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACA TGTGCACAACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTT TTATCTCCAAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTT TTTTCCATTTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTT GTATCAAATGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGACGGT GTAAACTCAATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACAT ATTTGGGGAATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACT ATATTTGGGGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCT TCCCTACCACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTT TGCTTTTTCAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACA AAGAAATAACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGT GACAGAAATTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAA GATACTTTCTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGG CAGCCACCATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGA GGAGACAGAGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTT TTGCGTCTCTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCT AATCTTAATTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGG AGTTAGAGCTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGC AGATGCATTGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTAT GGCCACAGATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAA GGAACTATAAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGAC ACAGATGTTTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCAT GTCTTAAATTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTT GGAAGATATGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTA AAAATAAATCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTC AAATAAATAAATAAATAAATAACAAGAACAACAATATGAACAAGTAAAAT ATGAATAAATAAATAGCACTATTAATAATAAAATTATCAATCAATAAATA GCATTCCAAAAATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAG CTATAGATCTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCT AGCCTGCTTTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTT ACTTGCATCATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGT GACTGTCAAAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGA AATAGGAACACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATT AAGGTCAAGATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAAC TTTATAACATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTAT AATTTTATTTCTGTTATATATGTATGCGTTATATAAAATATATTTCTTAT TGGTATGAGATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTA GGCTGCTTGGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATT AAAACTGTCCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAAC CAAGTCATCAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTA ATTGTGAACCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATT ATTAATTTCCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAA TTAAAATTTCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAA ATATATGAAAACAGATGTTTGCCATATATGTGATATAGGTAAATGAATTA TGAATACAATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATG AAAACTAGAAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGC TCTCCATTCGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATA TAAAGCCTGGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAAT AAGGTTTTTAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGAT GTTGCTGGAATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCA TGTATAATATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGAT AAAGTGGTACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAG TGCAGCCTTACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAA TTGTTGCTTAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCA AAAAGTCTTTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGC AGCAGCAGCAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAA AGTGGTAGAAACATACATGCACACATACTCAAAAATATTCATTTTTGATT TTCATGTCCATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCC CTGCTGTTTCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTA ATTTATTATTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACT TTTCTCTGTATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTAT ACCTATCTACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTT GTATTTATTTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTAC CTTGACCACCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTT AAAATTCATTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATA CGTGTAACTTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTAT TTTCTAATTTAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTC TTTTGATAGTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAG ATTAGGAAGCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATG TAACTAGAGAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGA GTTCTTTCCACTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTT TTCAATAGTTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTA AGTTTGTCAAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAATT TACATTCACTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGA ATGAAATCATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATC TTAGTGAAGTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGC GGGAGCTAAATAATATGTACACATGGACATAGTATGTAAAGTACCTTTAT AAATATAATAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACC TCTTTTACCTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCT AATAATTTTAATACTAAATTAGCACTTACATATTAACAATAAAATTGATT TTAAGGATATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAA ACTCTCCTCTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAAT TGCACCCAGGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGA GTTGAAGATGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAG TAGTAGGCAATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTC AACACACCAATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTG TTACTCTTCTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAAC AAAATAGTATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTG GCCTTCATGACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCG ATATGTGGCCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAG GAATCTGCATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTT GCACTG	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0000 a0001c0059t0000	a0001c0059t0000g0000 a0001c0059t0000g0000	1	364	0.0028	7605	c.492 others(7612): Show c.492_493insTGCCTCTCCTATTGCCACTCCAACATTGTCAACCATTT CTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCAGACACTCGCT TCAAACAGCTATGGATTTTGGCCTGTGCTGGTATCACATTCATCTGCTCT GTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTGCCATCCTGAG GATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACCTGTAGCTCTC ACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTTTATGTACTTA CAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGGCCTCTGTCTT CTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTACAGTCTCAGGA ACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAATAGAAACCAT GCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGACAAAAATGGG CATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAACTATTGGAATA CCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTGAAAAAATTAT TCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATTTCATATGTAG AAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAATGTATTTTTA AAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCTGCCAGGAATA GAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGTAAGAGTTCTT TAACAATATGTTAAGACTATTTTATAGTATATTTAAAATTAAATTTAATA ATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGAGGTAATTTTT CTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTGATTTTCACAA TGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGGGTGGAGGCCA GGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCCTCACTCAAAA AATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGAGAGCCGGTGT TAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATTCATTAAGATC AAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTATGGTTTTCTC TTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATCCCAAGTTAAA TTACGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAAATGTTTTGGG GCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAATTTACTGATTT TTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGTGATAGCATTT AATGACTAAAAGTCTATATTTTTCTGACAATATAACCACTTCATCTCTCT TGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTACTTTCATTAT ATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAGCTAATAGTTG GATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTTTTAATTAGAG TATTAAGTCCATTCATTTTTAACACAATTACTGATATGGCTGAATTTATG TCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTTTTATTTCCTT GTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAGAAATTTAATT TCTGATGTGTTAAATATGTACACACACAAACAGACACACAGACATGCATT AGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACTTATCACCATA TACTTCAGATTAATACTAGCATAGCACTATGTAAATACATACATACATAC ACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTATTATCATAATT GAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGAAATATACAAT TGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGTAGACTATATA TACACAGACATATGACTATATCAATAATATGATGATACATCAATAAATAA AAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCGTGTATTTCTG TGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGAAAGACATTCT TATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTATCTTAATCTC ATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATATAATTTGACTG GATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAGTTTGGACATG TCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCATGTGTTAAACT TGTGATTTTCTATAGAATTAATCAACAACTTTCAAGACTTTTCGCTGTCT TTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTTTTTGGTGTTA ATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGTTAATGCTTTT CTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGTATTTTCCCCT TTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTTACTGGTACAC TTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCCCAGAAGTCGC CAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTGTTTTCTAGAA TAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTCTGTCTTCAGC TTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCATTTCAGGTAT TGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAAAATTGCTATA AGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCAATATATTAGA AAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGTACCTTGATAA AGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATTATTTTTTCAG TATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACATGTGCACAAC GTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTTTTATCTCCAA ATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTTTTTTCCATTT GGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTTGTATCAAATG TCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGACGGTGTAAACTCAA TTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACATATTTGGGGAA TCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACTATATTTGGGG AAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCTTCCCTACCAC CTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTTTGCTTTTTCA GAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACAAAGAAATAAC AACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGTGACAGAAATT TATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAAGATACTTTCT GATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGGCAGCCACCAT CTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGAGGAGACAGAG AAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTTTTGCGTCTCT TCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCTAATCTTAATT TTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGGAGTTAGAGCT TCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGCAGATGCATTG TTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTATGGCCACAGAT TGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAAGGAACTATAA AAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGACACAGATGTTT CATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCATGTCTTAAATT ATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTTGGAAGATATG TTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTAAAAATAAATC TAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTCAAATAAATAA ATAAATAAATAACAAGAACAACAATATGAACAAGTAAAATATGAATAAAT AAATAGCACTATTAATAATAAAATTATCAATCAATAAATAGCATTCCAAA AATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAGCTATAGATCT TTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCTAGCCTGCTTT GGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTTACTTGCATCA TTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGTGACTGTCAAA ACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGAAATAGGAACA CCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATTAAGGTCAAGA TAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAACTTTATAACAT TTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTATAATTTTATTT CTGTTATATATGTATGCGTTATATAAAATATATTTCTTATTGGTATGAGA TGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTAGGCTGCTTGG AAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATTAAAACTGTCC TTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAACCAAGTCATCA ATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTAATTGTGAACC AGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATTATTAATTTCC CATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAATTAAAATTTC ATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAAATATATGAAA ACAGATGTTTGCCATATATGTGATATAGGTAAATGAATTATGAATACAAT GTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATGAAAACTAGAA ATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGCTCTCCATTCG CCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATATAAAGCCTGG GTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAATAAGGTTTTTA ATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGATGTTGCTGGAA TTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCATGTATAATAT TTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGATAAAGTGGTAC TTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAGTGCAGCCTTA CCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAATTGTTGCTTA ATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCAAAAAGTCTTT AAAAACTTTGATGATGCACATATTTCATGTAACAATAAGCAGCAGCAGCA GTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAAAGTGGTAGAA ACATACATGCACACATACTCAAAAATATTCATTTTTGATTTTCATGTCCA TGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCCCTGCTGTTTC CTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTAATTTATTATT TGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACTTTTCTCTGTA TTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTATACCTATCTAC TTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTTGTATTTATTT CCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTACCTTGACCACC CATACATACTATGTATGTAGAAGTCAGCATAATCACTTTTAAAATTCATT GACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATACGTGTAACTT TTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTATTTTCTAATTT AAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTCTTTTGATAGT AACAATGATTATTTCAGATAGAAAATAACACCTTTTATAGATTAGGAAGC TTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATGTAACTAGAGA ATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGAGTTCTTTCCA CTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTTTTCAATAGTT ACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTAAGTTTGTCAA AATTCACTATATTTACTTCCTCATAGCCATAATGGCAATTTACATTCACT TTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGAATGAAATCAT GTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATCTTAGTGAAGT AACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGCGGGAGCTAAA TAATATGTACACATGGACATAGTATGTAAAGTACCTTTATAAATATAATA AATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACCTCTTTTACCT TTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCTAATAATTTTA ATACTAAATTAGCACTTACATATTAACAATAAAATTGATTTTAAGGATAT TAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAAACTCTCCTCT TTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAATTGCACCCAGG TGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGAGTTGAAGATG CCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAGTAGTAGGCAA TCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTCAACACACCAA TGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTGTTACTCTTCT GTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAACAAAATAGTAT TTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTGGCCTTCATGA CGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCGATATGTGGCC ATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAGGAATCTGCAT TCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTTGCACTGTTTC ACACCATCCTCACCTTC	p.Phe others(7618): Show p.Phe164_Arg165insCysLeuSerTyrCysHisSerAsnIleValAs nHisPheTyrCysAspAspMetProLeuLeuArgLeuThrCysSerAspT hrArgPheLysGlnLeuTrpIleLeuAlaCysAlaGlyIleThrPheIle CysSerValLeuIleValPheValSerTyrMetPheIleIlePheAlaIl eLeuArgMetSerSerAlaGluGlyArgArgLysAlaPheSerThrCysS erSerHisMetLeuAlaValThrIlePheTyrGlyThrLeuIlePheMet TyrLeuGlnProSerSerSerHisSerLeuAspAlaAspLysMetAlaSe rValPheTyrThrValIleIleProMetLeuAsnProLeuIleTyrSerL euArgAsnLysAspValLysAspAlaLeuLysLysValIleIleAsnArg AsnHisAlaPheIlePheLeuLysLeuArgLysTerValGlnTerThrLy sMetGlyIleProSerTerProGlyPheProProHisTerTerAsnTyrT rpAsnThrLeuLeuLeuIleGlyLysGlnTerArgSerValTyrTerLys AsnTyrSerLeuHisPheCysAsnPhePheAspLeuLysProTyrPheIl eCysArgLysTyrHisLysAsnLeuHisHisPheSerGlnGluLysCysI lePheLysMetTyrTyrLeuIleTerTerLeuTyrAsnTerValLeuPro GlyIleGluLysMetLysAlaLeuTerMetProSerSerGlyLeuTerGl uPhePheAsnAsnMetLeuArgLeuPheTyrSerIlePheLysIleLysP heAsnAsnIleTerLeuAsnTyrLeuGlnGlnCysLeuTyrIleGluVal IlePheLeuProGlyGlyHisLeuSerIleLeuArgLeuIleIleAspPh eHisAsnAspArgIleLeuTerArgAsnAlaIleAlaIleTerArgValG luAlaArgCysAlaAlaLysTyrPheThrIleHisAsnMetAlaProHis SerLysAsnTyrThrSerProAsnAspAsnSerAlaGluValGluArgAl aGlyValLysTerPhePhePheSerSerArgValIleLeuTerIleHisT erAspGlnAlaGlyTerTerCysCysSerSerLeuPheTrpLeuTyrGly PheLeuPheIleCysSerIleAsnTyrTerAspTerCysTerAsnProLy sLeuAsnTyrValPheThrPheIlePheCysGlnPheTerPheTerMetP heTrpGlySerPheValIleCysAlaTerIleSerSerTyrLeuIleTyr TerPhePheSerLeuLeuAlaLeuLeuAsnAlaLeuProPheLeuTerTe rHisLeuMetThrLysSerLeuTyrPheSerAspAsnIleThrThrSerS erLeuLeuArgLeuLeuTerAlaTrpLysSerIleProSerPheTyrPhe HisTyrIleCysAspPheLysCysThrPheCysLeuLeuTerThrAlaAs nSerTrpIlePheValPheValIleAsnSerGluTerLeuSerLeuLeuI leArgValLeuSerProPheIlePheAsnThrIleThrAspMetAlaGlu PheMetSerPheMetLeuLeuIlePheTerIleValGlnPhePhePheIl eSerLeuPheGluPheTerArgLeuCysTerLysIleLeuSerTerLysP heAsnPheTerCysValLysTyrValHisThrGlnThrAspThrGlnThr CysIleSerAsnGlyCysSerLysAspPheAsnIleAspPheAsnLeuSe rProTyrThrSerAspTerTyrTerHisSerThrMetTerIleHisThrT yrIleHisThrTyrAlaValSerThrTyrLysProGlnAspCysIleIle IleIleGluTyrValCysAsnPheMetSerLeuGlyGlyHisLysLysTy rThrIleValCysHisLeuTyrLysLeuArgArgGluTyrLeuCysArgL euTyrIleHisArgHisMetThrIleSerIleIleTerTerTyrIleAsn LysTerLysLysTerLeuThrTyrLeuProPheProValCysPheValTy rPheCysAspTerAsnTyrHisThrGluTerPheLeuIleLeuTerLysT hrPheLeuCysThrTyrTyrLysAlaAspLeuLeuAlaMetAsnTyrLeu AsnLeuIleTyrProGlyLeuTerValThrPheIleSerGluIleTerPh eAspTrpIleTerTyrSerLeuTerThrThrValPheLeuTerGlnPheG lyHisValIleProProHisSerIlePheSerLeuTerGluValMetCys TerThrCysAspPheLeuTerAsnTerSerThrThrPheLysThrPheAr gCysLeuTrpHisSerIleLeuTerLeuSerLeuAlaTerArgPhePheG lyValAsnLeuThrTerValTrpLeuSerProLeuAspProHisValAsn AlaPheLeuSerGlnIleGlyGluValPheSerAsnLeuPheLysTyrPh eProLeuTyrLeuProSerPheLeuLeuGlyLeuProLeuIlePheThrG lyThrLeuAspMetAlaHisPheIleGlyThrThrPheTrpCysProArg SerArgGlnAspPheLeuHisPheSerValIlePhePhePheSerValPh eTerAsnArgGlnValLeuPheThrTyrPheGlnPheTyrGlnPheCysL euGlnLeuTyrHisTyrSerPheTrpSerAsnGlnTyrIlePheHisPhe ArgTyrCysIlePheIleSerLysTyrSerPhePheSerLysLysLysLe uLeuTerGlyPheIleGlyGluIleAspGluIleTerIleTerSerIleT yrTerLysIleMetLeuHisLysCysPheLeuValLeuIleIleValPro TerTerSerAspMetIleCysAlaIleTyrSerPheTerAsnTyrTyrPh ePheSerIleProLeuLeuLeuLeuTyrPheLysPheTerGlyThrCysA laGlnArgAlaGlyLeuIleHisMetTyrThrCysAlaMetTerPheTyr LeuGlnIleLeuTyrLeuValLeuTerLysIleTyrIleLysIlePhePh eHisLeuValArgTyrTrpTerAlaAsnAspTrpIleProGlyPheValS erAsnValLeuLeuAlaPheSerPheThrTyrPheTerLeuThrValTer ThrGlnLeuTerPheSerLeuProIleTerAsnLeuTerLysThrTyrLe uGlyAsnLeuValHisLeuHisProTerIleAlaGluLysTyrThrIleP heGlyGluLysLysValValLeuTerLeuLeuSerThrProProLeuPro TyrHisLeuProProThrLysProPheAlaLeuTerArgIleIleLeuLe uPheGlnArgCysSerProIleGlnLeuArgLeuGlnTerLysThrLysL ysTerGlnGlnGlnLysProGlnAsnLeuAspTrpValAlaTerValThr GluIleTyrPheLeuThrValLeuGluThrArgSerProArgSerArgTy rPheLeuIleGlnLeuLeuValArgSerLeuPheLeuAlaCysArgGlnP roProSerSerValCysSerHisAspLeuLeuPheValSerIleGluGlu ThrGluLysLysLysLysLysArgGluSerGluTerAlaTyrThrPheAl aSerLeuLeuIleArgAlaLeuThrProSerLeuIleThrLeuSerAsnL euAsnPheLeuProLysLeuLeuSerLeuAsnIleIleThrLeuGlyVal ArgAlaSerIleTyrGluPheTerGluIleGlnPheSerSerTerGlnMe tHisCysSerValIleSerIleThrIleMetPhePheSerCysTyrGlyH isArgLeuAlaLysLysIleIleSerLysAlaIleLeuTerThrLysGlu LeuTerLysLeuSerAsnAsnArgTerGlnGlnProTerLysArgHisAr gCysPheMetSerIleSerLysSerLysProLysArgGluTyrHisValL euAsnTyrSerValIleAspTyrTrpGluPheGlnIleSerSerLeuGlu AspMetLeuTerLysPheLeuGlnGlyAsnPheTyrPheSerPheLysAs nLysSerLysLeuTyrHisTerGluThrThrLysGlyLysGluPheLysT erIleAsnLysTerIleThrArgThrThrIleTerThrSerLysIleTer IleAsnLysTerHisTyrTerTerTerAsnTyrGlnSerIleAsnSerIl eProLysIleArgThrLeuGluGlnTerCysHisAlaLysSerGluLeuT erIlePheGlySerSerLysLeuGluAsnAspValAsnLeuSerLeuAla CysPheGlyIleProTerValIleAsnTyrPhePheTerTerPheTyrLe uHisHisSerProLysTerAspProMetGlyGlnArgGlyGlnSerAspC ysGlnAsnProIlePheCysCysCysProAsnProLeuGlyGluGluIle GlyThrProPheThrGlnValSerSerAsnAsnMetPheGlnAsnTerGl yGlnAspLysHisPheLysAsnLysValAlaTerAsnIleMetAsnPheI leThrPheTerMetAlaPheSerGluIleArgLeuMetPheSerIleIle LeuPheLeuLeuTyrMetTyrAlaLeuTyrLysIleTyrPheLeuLeuVa lTerAspGluLysGluSerLeuGlyIleProArgTerAsnLeuLeuGlyC ysLeuGluLysLeuAspThrTerLeuThrArgLeuGlnPheThrLeuLys LeuSerPheLeuPheLeuProIleTerLysValSerThrSerLysProSe rHisGlnTyrValIleTerCysValCysTyrLysTerArgThrLeuIleV alAsnGlnTerAsnLysTyrTerLysValLeuAlaLysIleTerLeuLeu IleSerHisTyrGlnAlaSerArgArgGlyTyrIleLysThrLeuIleLy sIleSerTrpArgProProMetAspSerAlaValTyrGlnAsnLysIleT yrGluAsnArgCysLeuProTyrMetTerTyrArgTerMetAsnTyrGlu TyrAsnValSerArgThrGlnArgTerLysMetValThrGlnHisGluAs nTerLysSerGlyLysProTerArgIleAsnSerPheHisCysSerSerP roPheAlaIleHisLeuValGluValSerValSerLysSerThrTyrLys AlaTrpValThrCysLysGlyMetLeuTyrLeuArgThrValLysTerGl yPheTerLeuIleThrGlyCysCysLeuArgLysLysGlyArgAspValA laGlyIleLeuMetGluAsnIleMetAspTyrIleValLysGlyHisVal TerTyrPhePheLysTyrAsnValHisSerThrPheGluMetArgTerSe rGlyThrSerArgTerAspAsnLysCysLeuIleValValLysGlnCysS erLeuThrTerAsnLeuGlnThrTerLysLeuAsnPheLeuSerAsnCys CysLeuIleIleSerLysGlnAsnLeuCysIleCysMetAsnThrLysLy sSerLeuLysThrLeuMetMetHisIlePheHisValThrIleSerSerS erSerSerAsnAsnLysTyrTyrLeuLeuLeuSerSerSerTerLysVal ValGluThrTyrMetHisThrTyrSerLysIlePheIlePheAspPheHi sValHisAspLeuTerArgThrSerLysPheSerTerTyrIleProLeuL euPheProGluIleIleLysIleTyrGlnLeuGlyPhePheCysTerPhe IleIleCysTerAspTyrIleSerGlyThrLysIleLeuArgHisPheSe rLeuTyrSerThrTerLysValHisTyrValTerLysPheThrTyrThrT yrLeuLeuAlaLeuLeuLysAspPheProCysValLeuThrPheLeuTyr LeuPheProGlnThrPheLeuCysSerArgProArgGlyIleLeuProTe rProProIleHisThrMetTyrValGluValSerIleIleThrPheLysI leHisTerGlnLeuGlyGlyLysValIleLeuLeuThrTyrThrTyrVal TerLeuLeuIleHisGlnGlySerLysPheTyrGlyLeuIleLeuPheSe rAsnLeuLysTyrIleTyrThrCysTyrValGlnGluIleThrPhePheT erTerTerGlnTerLeuPheGlnIleGluAsnAsnThrPheTyrArgLeu GlySerLeuLysAsnLysLeuAsnPheTerCysAlaLysValTyrValTh rArgGluTerTerLysTerIleProGlyLeuProValLeuSerArgValL euSerThrValSerCysLeuThrTerIleProThrLysCysHisPheSer IleValThrCysHisTerAsnAlaThrValTyrHisLysAsnAlaLysPh eValLysIleHisTyrIleTyrPheLeuIleAlaIleMetAlaIleTyrI leHisPheLeuArgValIleGluTyrTyrLeuAlaThrLysLysGluTer AsnHisValPheCysSerAsnMetAspGlyAsnGlyGlyHisTyrLeuSe rGluValThrGlnLysValLysHisHisMetPheSerLeuIleSerGlyS erTerIleIleCysThrHisGlyHisSerMetTerSerThrPheIleAsn IleIleAsnLeuCysArgGluLysTyrValPheProGlnAsnAsnLeuPh eTyrLeuSerSerHisProIleProSerProAspLeuLysTerAlaAsnA snPheAsnThrLysLeuAlaLeuThrTyrTerGlnTerAsnTerPheTer GlyTyrTerGlyIleLysLysLeuTyrLysCysTerAlaTerLeuAsnSe rProLeuPheIleGlnThrThrTerArgGlyMetThrGlnIleAsnCysT hrGlnValThrGluPheIleLeuValGlyLeuThrAspArgGlnGluLeu LysMetProLeuPheValLeuPheLeuSerIleTyrLeuPheThrValVa lGlyAsnLeuGlyLeuIleLeuLeuIleArgThrAspGluLysLeuAsnT hrProMetTyrPhePheLeuSerAsnLeuAlaPheValAspPheCysTyr SerSerValIleThrProLysMetLeuGlyAsnPheLeuTyrLysGlnAs nSerIleSerPheAsnAlaCysAlaAlaGlnLeuGlyCysPheLeuAlaP heMetThrAlaGluCysLeuLeuLeuAlaSerMetAlaTyrAspArgTyr ValAlaIleCysAsnProLeuMetTyrMetValValMetSerProGlyIl eCysIleGlnLeuValAlaAlaProHisSerTyrSerIleLeuValAlaL euPheHisThrIleLeuThrPhe	OR8U1	ENSG00000172199.1	transcript	ENST00000302270.1	protein_coding	1/1	493/930	493/930	165/309		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
PKD1L3_chr16_71924538_72005402	71947511	CTTTG CTTTG	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(61): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp1 NA18906.hp1 NA18941.hp2 NA19043.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2	a0003 a0004 a0006 others(10): Show a0003 a0004 a0006 a0011 a0013 a0023 a0025 a0032 a0038 a0045 a0047 a0055 a0058	a0003c0004 a0003c0016 a0003c0072 others(16): Show a0003c0004 a0003c0016 a0003c0072 a0003c0074 a0003c0075 a0004c0043 a0006c0006 a0011c0012 a0011c0053 a0013c0014 a0013c0059 a0023c0022 a0025c0029 a0032c0079 a0038c0060 a0045c0049 a0047c0051 a0055c0036 a0058c0033	a0003c0004t0001 a0003c0016t0001 a0003c0072t0001 others(16): Show a0003c0004t0001 a0003c0016t0001 a0003c0072t0001 a0003c0074t0001 a0003c0075t0001 a0004c0043t0001 a0006c0006t0001 a0011c0012t0001 a0011c0053t0001 a0013c0014t0001 a0013c0059t0001 a0023c0022t0001 a0025c0029t0001 a0032c0079t0001 a0038c0060t0002 a0045c0049t0001 a0047c0051t0001 a0055c0036t0001 a0058c0033t0001	a0003c0004t0001g0033 a0003c0004t0001g0146 a0003c0004t0001g0159 others(61): Show a0003c0004t0001g0033 a0003c0004t0001g0146 a0003c0004t0001g0159 a0003c0004t0001g0163 a0003c0004t0001g0191 a0003c0004t0001g0192 a0003c0004t0001g0196 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0231 a0003c0004t0001g0232 a0003c0004t0001g0233 a0003c0004t0001g0234 a0003c0004t0001g0236 a0003c0004t0001g0237 a0003c0004t0001g0238 a0003c0004t0001g0239 a0003c0004t0001g0240 a0003c0004t0001g0247 a0003c0004t0001g0251 a0003c0004t0001g0252 a0003c0016t0001g0049 a0003c0016t0001g0190 a0003c0016t0001g0242 a0003c0016t0001g0243 a0003c0016t0001g0244 a0003c0072t0001g0266 a0003c0074t0001g0149 a0003c0075t0001g0235 a0004c0043t0001g0137 a0006c0006t0001g0032 a0006c0006t0001g0035 a0006c0006t0001g0036 a0006c0006t0001g0037 a0006c0006t0001g0038 a0006c0006t0001g0039 a0006c0006t0001g0040 a0006c0006t0001g0041 a0006c0006t0001g0042 a0006c0006t0001g0044 a0006c0006t0001g0045 a0006c0006t0001g0046 a0011c0012t0001g0129 a0011c0012t0001g0138 a0011c0012t0001g0139 a0011c0012t0001g0140 a0011c0012t0001g0141 a0011c0012t0001g0142 a0011c0053t0001g0108 a0013c0014t0001g0055 a0013c0014t0001g0056 a0013c0014t0001g0078 a0013c0014t0001g0119 a0013c0014t0001g0120 a0013c0059t0001g0130 a0023c0022t0001g0009 a0023c0022t0001g0021 a0025c0029t0001g0001 a0032c0079t0001g0256 a0038c0060t0002g0302 a0045c0049t0001g0073 a0047c0051t0001g0077 a0055c0036t0001g0020 a0058c0033t0001g0010	64	308	0.2078	-4	c.369 others(13): Show c.3695_3698delCAAA	p.Thr others(6): Show p.Thr1232fs	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/30	4122/5623	3695/5199	1232/1732			chr16	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
PLEKHN1_chr1_961482_980865	971305	CCCACCCC others(19): Show CCCACCCCCACCCACCCAGGAGCAGTG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp1	a0020 a0020	a0020c0048 a0020c0048	a0020c0048t0001 a0020c0048t0001	a0020c0048t0001g0140 a0020c0048t0001g0140	1	422	0.0024	-26	c.709 others(36): Show c.709-18_716delCCACCCCCACCCACCCAGGAGCAGTG	p.Glu others(5): Show p.Glu237fs	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding	8/16		709/1836	237/611			chr1	TogoVar
POLR3B_chr12_106352748_106515198	106427179	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00642.hp1 others(55): Show HG00099.hp1 HG00140.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01346.hp1 HG01358.hp2 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA19057.hp2 NA19064.hp2 NA19081.hp2 NA20300.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0011 a0005c0016 a0001c0001 a0001c0011 a0005c0016	a0001c0001t0001 a0001c0001t0009 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0011t0001 a0005c0016t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(55): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0105 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0257 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0009g0053 a0001c0011t0001g0162 a0005c0016t0001g0027	58	304	0.1908	1	c.110 others(7): Show c.1102-3dupT		POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	12/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
POMZP3_chr7_76604986_76632279	76611468	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(209): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18963.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0000	a0000c0002 a0000c0004 a0000c0005 others(6): Show a0000c0002 a0000c0004 a0000c0005 a0000c0006 a0000c0007 a0000c0009 a0000c0010 a0000c0011 a0000c0013	a0000c0002t0002 a0000c0002t0003 a0000c0002t0004 others(25): Show a0000c0002t0002 a0000c0002t0003 a0000c0002t0004 a0000c0002t0007 a0000c0002t0008 a0000c0002t0011 a0000c0002t0013 a0000c0002t0014 a0000c0002t0015 a0000c0002t0016 a0000c0002t0022 a0000c0002t0023 a0000c0002t0024 a0000c0002t0025 a0000c0002t0026 a0000c0002t0027 a0000c0002t0029 a0000c0002t0030 a0000c0004t0003 a0000c0004t0013 a0000c0004t0018 a0000c0005t0004 a0000c0006t0003 a0000c0007t0003 a0000c0009t0003 a0000c0010t0003 a0000c0011t0001 a0000c0013t0004	a0000c0002t0002g0003 a0000c0002t0002g0007 a0000c0002t0002g0014 others(183): Show a0000c0002t0002g0003 a0000c0002t0002g0007 a0000c0002t0002g0014 a0000c0002t0002g0015 a0000c0002t0002g0016 a0000c0002t0002g0087 a0000c0002t0002g0088 a0000c0002t0002g0089 a0000c0002t0002g0090 a0000c0002t0002g0091 a0000c0002t0002g0092 a0000c0002t0002g0093 a0000c0002t0002g0094 a0000c0002t0002g0095 a0000c0002t0002g0096 a0000c0002t0002g0097 a0000c0002t0002g0098 a0000c0002t0002g0099 a0000c0002t0002g0100 a0000c0002t0002g0101 a0000c0002t0002g0102 a0000c0002t0002g0103 a0000c0002t0002g0104 a0000c0002t0002g0105 a0000c0002t0002g0106 a0000c0002t0002g0107 a0000c0002t0002g0108 a0000c0002t0002g0109 a0000c0002t0002g0110 a0000c0002t0002g0111 a0000c0002t0002g0112 a0000c0002t0002g0113 a0000c0002t0002g0114 a0000c0002t0002g0115 a0000c0002t0002g0116 a0000c0002t0002g0117 a0000c0002t0002g0118 a0000c0002t0002g0119 a0000c0002t0002g0120 a0000c0002t0002g0121 a0000c0002t0002g0122 a0000c0002t0002g0123 a0000c0002t0002g0124 a0000c0002t0002g0125 a0000c0002t0002g0126 a0000c0002t0002g0127 a0000c0002t0002g0128 a0000c0002t0002g0129 a0000c0002t0002g0130 a0000c0002t0002g0131 a0000c0002t0002g0132 a0000c0002t0002g0133 a0000c0002t0002g0134 a0000c0002t0002g0135 a0000c0002t0002g0136 a0000c0002t0002g0137 a0000c0002t0002g0138 a0000c0002t0002g0139 a0000c0002t0002g0140 a0000c0002t0002g0141 a0000c0002t0002g0142 a0000c0002t0002g0143 a0000c0002t0002g0144 a0000c0002t0002g0145 a0000c0002t0002g0146 a0000c0002t0002g0147 a0000c0002t0002g0148 a0000c0002t0002g0149 a0000c0002t0002g0150 a0000c0002t0003g0008 a0000c0002t0003g0018 a0000c0002t0003g0019 a0000c0002t0003g0020 a0000c0002t0003g0155 a0000c0002t0003g0158 a0000c0002t0003g0159 a0000c0002t0003g0160 a0000c0002t0003g0161 a0000c0002t0003g0162 a0000c0002t0003g0163 a0000c0002t0003g0164 a0000c0002t0003g0165 a0000c0002t0003g0166 a0000c0002t0003g0167 a0000c0002t0003g0168 a0000c0002t0003g0169 a0000c0002t0003g0170 a0000c0002t0003g0171 a0000c0002t0003g0172 a0000c0002t0003g0173 a0000c0002t0003g0174 a0000c0002t0003g0175 a0000c0002t0003g0177 a0000c0002t0003g0179 a0000c0002t0003g0180 a0000c0002t0003g0181 a0000c0002t0003g0182 a0000c0002t0003g0183 a0000c0002t0003g0185 a0000c0002t0003g0189 a0000c0002t0004g0023 a0000c0002t0004g0024 a0000c0002t0004g0025 a0000c0002t0004g0026 a0000c0002t0004g0197 a0000c0002t0004g0198 a0000c0002t0004g0208 a0000c0002t0004g0209 a0000c0002t0004g0210 a0000c0002t0004g0211 a0000c0002t0004g0212 a0000c0002t0004g0213 a0000c0002t0004g0214 a0000c0002t0004g0215 a0000c0002t0004g0216 a0000c0002t0004g0217 a0000c0002t0004g0218 a0000c0002t0004g0219 a0000c0002t0004g0220 a0000c0002t0004g0221 a0000c0002t0004g0222 a0000c0002t0004g0223 a0000c0002t0004g0224 a0000c0002t0004g0225 a0000c0002t0004g0226 a0000c0002t0004g0227 a0000c0002t0004g0228 a0000c0002t0004g0229 a0000c0002t0004g0230 a0000c0002t0004g0231 a0000c0002t0004g0232 a0000c0002t0004g0233 a0000c0002t0004g0234 a0000c0002t0004g0235 a0000c0002t0004g0236 a0000c0002t0004g0237 a0000c0002t0004g0238 a0000c0002t0004g0240 a0000c0002t0007g0027 a0000c0002t0007g0244 a0000c0002t0007g0245 a0000c0002t0007g0246 a0000c0002t0007g0247 a0000c0002t0008g0017 a0000c0002t0008g0153 a0000c0002t0008g0154 a0000c0002t0011g0038 a0000c0002t0011g0345 a0000c0002t0013g0047 a0000c0002t0014g0011 a0000c0002t0015g0199 a0000c0002t0015g0200 a0000c0002t0016g0241 a0000c0002t0016g0242 a0000c0002t0022g0086 a0000c0002t0023g0151 a0000c0002t0024g0152 a0000c0002t0025g0195 a0000c0002t0026g0196 a0000c0002t0027g0156 a0000c0002t0029g0344 a0000c0002t0030g0346 a0000c0004t0003g0176 a0000c0004t0003g0178 a0000c0004t0003g0186 a0000c0004t0003g0187 a0000c0004t0003g0188 a0000c0004t0003g0190 a0000c0004t0003g0191 a0000c0004t0003g0192 a0000c0004t0003g0194 a0000c0004t0013g0048 a0000c0004t0018g0039 a0000c0005t0004g0201 a0000c0005t0004g0202 a0000c0005t0004g0203 a0000c0005t0004g0204 a0000c0005t0004g0205 a0000c0005t0004g0206 a0000c0006t0003g0022 a0000c0006t0003g0184 a0000c0007t0003g0021 a0000c0009t0003g0157 a0000c0010t0003g0193 a0000c0011t0001g0260 a0000c0013t0004g0239	212	423	0.5012	-1	c.560 others(4): Show c.560delT	p.Leu others(5): Show p.Leu187fs	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	6/7	1283/1528	560/564	187/187			chr7	TogoVar
PPEF2_chr4_75854867_75907452	75884592	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00741.hp1 HG01070.hp2 others(2): Show HG00099.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 others(2): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0002g0177 a0001c0001t0002g0178	5	270	0.0185	0	c.746 others(5): Show c.746+2T>C		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	8/16						chr4	TogoVar
PPIG_chr2_169579351_169646406	169584491	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp1 HG00438.hp2 others(85): Show HG00099.hp1 HG00323.hp1 HG00438.hp2 HG00639.hp1 HG00673.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01433.hp1 HG01516.hp2 HG01943.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03669.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18952.hp2 NA18955.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18972.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19005.hp2 NA19030.hp2 NA19054.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(11): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0005t0002 a0001c0007t0013	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 others(80): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0025 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0018 a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0009g0005 a0001c0001t0009g0007 a0001c0001t0009g0026 a0001c0001t0009g0038 a0001c0001t0009g0051 a0001c0001t0009g0058 a0001c0001t0009g0066 a0001c0001t0009g0068 a0001c0001t0009g0073 a0001c0001t0009g0076 a0001c0001t0012g0030 a0001c0001t0012g0035 a0001c0001t0012g0036 a0001c0001t0012g0040 a0001c0001t0012g0041 a0001c0001t0013g0027 a0001c0001t0013g0037 a0001c0001t0015g0031 a0001c0001t0015g0032 a0001c0001t0017g0004 a0001c0001t0021g0007 a0001c0001t0022g0059 a0001c0001t0025g0033 a0001c0001t0026g0034 a0001c0001t0027g0017 a0001c0005t0002g0077 a0001c0005t0002g0078 a0001c0005t0002g0079 a0001c0007t0013g0028 a0001c0007t0013g0029	88	382	0.2304	0	c.-70 others(5): Show c.-70+1G>A		PPIG	ENSG00000138398.17	transcript	ENST00000260970.8	protein_coding	1/13						chr2	TogoVar
PRAM1_chr19_8485056_8507640	8502591	T T	C C	start_lost start_lost	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18968.hp1 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19062.hp2 NA19074.hp1 NA19081.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0002 a0003 a0005 others(36): Show a0002 a0003 a0005 a0006 a0008 a0010 a0011 a0013 a0014 a0017 a0018 a0019 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073	a0002c0002 a0003c0003 a0005c0005 others(46): Show a0002c0002 a0003c0003 a0005c0005 a0005c0067 a0006c0006 a0006c0086 a0008c0016 a0008c0071 a0008c0084 a0008c0085 a0010c0010 a0011c0015 a0011c0027 a0013c0013 a0014c0024 a0014c0025 a0017c0028 a0017c0075 a0018c0031 a0018c0082 a0019c0017 a0027c0033 a0028c0026 a0029c0029 a0030c0077 a0030c0078 a0031c0030 a0032c0032 a0033c0035 a0034c0034 a0055c0070 a0056c0087 a0057c0088 a0058c0069 a0059c0072 a0060c0073 a0061c0074 a0062c0076 a0063c0079 a0064c0068 a0065c0081 a0066c0080 a0067c0083 a0068c0089 a0069c0094 a0070c0091 a0071c0092 a0072c0093 a0073c0090	a0002c0002t0002 a0003c0003t0002 a0005c0005t0002 others(47): Show a0002c0002t0002 a0003c0003t0002 a0005c0005t0002 a0005c0067t0002 a0006c0006t0002 a0006c0086t0001 a0008c0016t0002 a0008c0016t0004 a0008c0071t0002 a0008c0084t0002 a0008c0085t0002 a0010c0010t0002 a0011c0015t0002 a0011c0027t0002 a0013c0013t0002 a0014c0024t0002 a0014c0025t0002 a0017c0028t0002 a0017c0075t0002 a0018c0031t0002 a0018c0082t0002 a0019c0017t0002 a0027c0033t0002 a0028c0026t0002 a0029c0029t0002 a0030c0077t0002 a0030c0078t0002 a0031c0030t0002 a0032c0032t0002 a0033c0035t0002 a0034c0034t0002 a0055c0070t0002 a0056c0087t0001 a0057c0088t0002 a0058c0069t0002 a0059c0072t0002 a0060c0073t0002 a0061c0074t0002 a0062c0076t0002 a0063c0079t0002 a0064c0068t0002 a0065c0081t0002 a0066c0080t0002 a0067c0083t0002 a0068c0089t0002 a0069c0094t0002 a0070c0091t0002 a0071c0092t0001 a0072c0093t0002 a0073c0090t0002	a0002c0002t0002g0008 a0002c0002t0002g0049 a0002c0002t0002g0050 others(99): Show a0002c0002t0002g0008 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0255 a0002c0002t0002g0262 a0003c0003t0002g0009 a0003c0003t0002g0219 a0003c0003t0002g0220 a0003c0003t0002g0221 a0003c0003t0002g0222 a0003c0003t0002g0223 a0003c0003t0002g0224 a0003c0003t0002g0225 a0003c0003t0002g0226 a0003c0003t0002g0227 a0003c0003t0002g0238 a0003c0003t0002g0239 a0003c0003t0002g0241 a0005c0005t0002g0045 a0005c0005t0002g0048 a0005c0005t0002g0181 a0005c0005t0002g0185 a0005c0005t0002g0186 a0005c0005t0002g0200 a0005c0005t0002g0251 a0005c0067t0002g0198 a0006c0006t0002g0051 a0006c0006t0002g0204 a0006c0006t0002g0205 a0006c0006t0002g0206 a0006c0006t0002g0207 a0006c0006t0002g0210 a0006c0006t0002g0211 a0006c0086t0001g0178 a0008c0016t0002g0250 a0008c0016t0004g0199 a0008c0016t0004g0202 a0008c0071t0002g0188 a0008c0084t0002g0191 a0008c0085t0002g0194 a0010c0010t0002g0243 a0010c0010t0002g0244 a0010c0010t0002g0245 a0010c0010t0002g0246 a0010c0010t0002g0247 a0011c0015t0002g0047 a0011c0015t0002g0258 a0011c0027t0002g0054 a0013c0013t0002g0022 a0013c0013t0002g0195 a0014c0024t0002g0259 a0014c0024t0002g0260 a0014c0025t0002g0055 a0017c0028t0002g0044 a0017c0075t0002g0184 a0018c0031t0002g0252 a0018c0031t0002g0253 a0018c0082t0002g0190 a0019c0017t0002g0229 a0019c0017t0002g0230 a0019c0017t0002g0240 a0027c0033t0002g0203 a0027c0033t0002g0209 a0028c0026t0002g0052 a0029c0029t0002g0043 a0030c0077t0002g0189 a0030c0078t0002g0187 a0031c0030t0002g0046 a0032c0032t0002g0192 a0032c0032t0002g0193 a0033c0035t0002g0053 a0034c0034t0002g0217 a0034c0034t0002g0218 a0055c0070t0002g0197 a0056c0087t0001g0179 a0057c0088t0002g0208 a0058c0069t0002g0254 a0059c0072t0002g0232 a0060c0073t0002g0242 a0061c0074t0002g0183 a0062c0076t0002g0182 a0063c0079t0002g0201 a0064c0068t0002g0196 a0065c0081t0002g0248 a0066c0080t0002g0257 a0067c0083t0002g0249 a0068c0089t0002g0261 a0069c0094t0002g0263 a0070c0091t0002g0234 a0071c0092t0001g0180 a0072c0093t0002g0228 a0073c0090t0002g0256	128	422	0.3033	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	1/10	50/2195	1/2013	1/670			chr19	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
PRB3_chr12_11260914_11274707	11267401	GGTGGGGG others(118): Show GGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGG CTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGG GTGGTCCTTCTGGCTTTCCTGGACGA	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(22): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG01981.hp1 HG02083.hp2 HG02165.hp1 HG02735.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03942.hp2 HG04184.hp2 NA18747.hp2 NA18940.hp2 NA18963.hp2 NA18964.hp2 NA18977.hp2 NA18995.hp1 NA19054.hp2 NA19066.hp1 NA19067.hp2 NA19075.hp1 NA19084.hp1 NA19087.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0004 a0004c0004t0002 a0004c0004t0004	a0004c0004t0002g0005 a0004c0004t0002g0034 a0004c0004t0004g0036 a0004c0004t0002g0005 a0004c0004t0002g0034 a0004c0004t0004g0036	25	443	0.0564	-125	c.723 others(7): Show c.723_847del	p.Arg others(5): Show p.Arg242fs	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	885/1227	723/1056	241/351			chr12	TogoVar
PRB4_chr12_11302077_11315436	11308868	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00733.hp2 HG01069.hp1 others(13): Show HG00099.hp2 HG00733.hp2 HG01069.hp1 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01943.hp1 HG01981.hp1 HG02004.hp1 HG02273.hp2 HG02293.hp1 HG03239.hp2 HG03669.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0007 a0005c0005t0001g0047 a0005c0005t0001g0007 a0005c0005t0001g0047	16	451	0.0355	0	c.115 others(3): Show c.115C>T	p.Arg others(3): Show p.Arg39*	PRB4	ENSG00000230657.8	transcript	ENST00000279575.7	protein_coding	3/4	153/923	115/744	39/247			chr12	TogoVar
PRDM7_chr16_90051566_90082331	90064602	CGGGGTTT others(6131): Show CGGGGTTTCGCTAGTTTGGCCAGGCTGGTCTAGAACTCCTCACCTCAAGT GATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATATGTAAGAGCCC CCGCACCCAGCCCATGCTAATTCTTTTTTTTTTTTGAGAGGGAGTCTCAC TCTGTTGCCTAAGCTGGAGTGCAGTGGCACGATCTCAGCTAACTGCAGCC TCCATCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGTT GGGATTACAGGTGTCCACCACCATGCCCAGCTGATTTTTGTAGTTTTAGT AGAGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTTGAACTCCTGACCT CAGGTAATCTGCCCACCTCTGCCTCTCAAAGTGCTGGGATTACAGGTGTG AGCCACTGCCTCCGGCACTAATTCTTAATATTGTAGTGAACATGAAAGAT AATAATGTTCACCAAAGTGTTTTTTGAGCTACTTAATACAGTATGAATGT GAGATTAATAATTATTCTCGCCAGGCACAGTGGCTCACACCTGTAATCCC AGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAATTTGA GACCAGTCTGGCCAACCCTGTCTCTACAAAAAATACAAAAAACTAGCCGG GTGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGG AGAACAACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTGAAAAAAAA AAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAATAATTTTTCTCAC AGACTGGGTGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCA AGGTAGTAGGATGGCTTGAGCCCAGGAGTTCAAGACCAGCCTGAGCTACA CGGCAAAACCCTGCCTGTACAAAACACATAAAAATTAGCTGGGCATGGTG GTGCATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCAC ACTAACCTAGGAGATGGAGGCTGCAGTAAGCCGAGATTGAGCCATTGCAC TGCAGCCTTGGCGCAAGAGCCAGACTCTGTCTCAAACTACCCCCTGCCCC TGTAGAAAAATAACAAACGAAAATTATCTCATAGTCCTGATATATCTCTA CAGTTGAAATCTAACTCAAAGATATTTTCAGCATTCCTTGACCCTGTTAC TTATAGTTTAATTCATAAGCTTGGAATCAATCATTCAGAAAACACTCAGG AGGCTCTCAGAGGCCCTGAGCTGGGCTTGGGAGTTCTAAGAAGAATCAGG AAGGGACTAGACTCCTGAAGAGCTCACAATGAAGAGGCAGCAGGCAGGCT AAACAAATAATTCCAAATAACATGACAGTTCCCTAATTGGAGCCCAGAGG AAGGAGCTGTTACTGCCTTCTACAGGAATGAGCATTTGAAATTGGTTCCA GAAGAATATATTTTTACTTAATAGGGTGTAACCTATATGAAGTCCTAAAC CATTTTCTTATTTGTTGTTTCTCAATCTTCGAACCTGAAACCCTTCAGGG CTGGAAGCTGCTTCCTCTGATCAGAATGGGTCCCTTATGAGGGTAGGGAC CCTATCTTCTTCTGGTACCATCCACAGTATGAATTGTCTATTTACTTGGA AGCTTCCCTTAATCAGAGTGTTTTAGTGCAAATCTGACTTTACTACAACA GAGAAAAACTGAGGTTGAAAAATCAATTGGACGAATGATGTAAAGACATA TGGGTAAGACAGCATAAACTTTATAAAACTATGAAACTTTTAATGATCTT GTAAGTGCTTTAGAGAAGGAGTTTTGGATTAGACTGCACCAACACTGAAT GTGATCCCAGGGATATAACTGAACATTTTTATACCTCAGTTTCCTAACCT GTAAAATGGCTATAGTTATAGTACCTACTTAATAGGTACTATATGTGAAG TTGAATAGGTACTATATGTAAAGTTTATTCATGTAAAATGCTTAAAAAAG TCTGAAAATACTGAGAAAATAACCCATGGTAGCGATTATTGTTGCTGTTC TTATTAACTCTTAAAATAATGATGATGGCAGACACTGCGCTAAAGAGATC AGGAGAGGAAGGCAGTAGTTCCTAGGATAGTCTGTACATTCTCCTTCTCT TACCTGTATTTGGATCTATGAGGAAGGTTTCTTGTCAACAGGATTTGGGA GATACTTACCTTCTGGTGTTTACTCTGTTCTCCTCTGAAGGCCATCCAAG GAGGTTTGACTAAGAGGTGATGAGAAATCAGTGGTTTGGTTGGTAAATGT TTCCAAACTCTAGAGATTTTTTTTTCTTTTTGATATGGAGTCTCCCTCTG TCGCCCAGGCTGGAGTGCAGTGGCACAATCTCCCCTCACTGCAACCTCCG CCTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTTGTGAGTTGTTGGGA ACTACAGGTGTGCACCACCACACCCAGCTAATTTTTGCATTTTTAGTAGA GATGGGGTTTCTCCATGTTGGCGATGCTGGTCTCGAACTCCTGACCTTAG GTGATCCACCTGCCTCGGACTCCCAAAGTGCTGAGATTACAGGCGTGAGC CACTATGCTTGGCCTAACTCTGGAGTTTCTCATTAGAGACAGAGAATTCT GAATCAGAGAGTGATGATTCCAAGTATTATCCAAGGGCAATTTGGAAATG TTTTCTGAAGTATCATTAAGGCCTATGCTTCTATTGGGGGCATTGCTAAT TTTCTTAAGATTTAAAAAAATAGATAAAACTTCATCTTTGTTTCAGCCTA TCTGTAAAGGTATACCTAATAAGGTGTTTATTACATTAATTTTTAAAACG TAAATTGACCTTTCATGACAAACACACTGAACAAACTAGGAATAGAAGGA AATCACCTCGACGTAAAAAGGTCATATAAGAAAAGCCCTTTTTTTTTTTT TTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGGGGC GCGAGGTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAGGCCATTCTCC TGCCTTAGCCTCCTGAGTAGCTGGGACTGCAGGTGCCTGCCACCACGCCC AGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGGTCTCCTGACCTTGTGATCCTCCCACCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCGAAAAGCCAAAT TTTTAACATCATAGTCGATGATGAAAAACTGAAAGCCTTCCTTCTAAGGT CATAAACAAGGTAAGGATTTCCAGTCTTGCTACTTCTAGTCAACATAGTC CTGTAAGTCGTAGCCTGAGCAATTAGGCCAGTAAAATAAATAAAAGGCAT CCAAATGGAAAGGAAGAAGTAAAATTATCTCTGTTTGCAGATGACATGAT CTTACATGCAGAAAACTATAATGATTCATTAGCTGGGCATGGTGGCGGGC ACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAT CTGGGAGGCAGAGGTTGCAGTGAACCGAGATCATGCTACTGCACTCCAGC TTGGGCGACAGAGCGAGACTCCATCTAAAAAAATAAATAAAAATAAAAAA TAAAACTATAAAGATTTTACCAAAAAATTGTTAGAAGTAATACACGAATT TGGGCTGGGCATGGTGGCTCAAGCCTATAATCCCAGCACTTTAGGAGGCA GAGGTGGGGGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGT GGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTG ACGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATGGC ATGAACCTTGGAAGTGGAGCTTGTAGTGAGCCGATATCATGCCACTGCAC TCCAGCCTGGATGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AGAAGTAATACATGAATTCAGCATACAAAAGCAACACCCCAAATCAGTTG TGTTTCTATTTAGTAAAAATGAGCAATCCAAAAAGGAAATTAAGAAAAAA ATCCCAATCACAATAGCATCAAAAAGAATAGAATAATTAGGAATAAACTT AACCAAGGAGGCAAAAACTTGAACACTGAAAACTACAAAACAGTGCCGAC AGAAATTTAAGGAGACACAAATAGATGGAAGACATCCTGTGTTCGTGGAT TTGAAGACTTAATATTGTTAACATGTTCATACTATCAAAATGATTTATAG ATTCAATGTCCTGTCTATCAAAATGCCAATGCTATTATTTTCAGAAATGG AAAAATATCCAAAAAATCATATAGAATCTCTAAGGACCCAGAATAGCCGA AACAATCTTGAAAAAGAAGGATAAAGTTGAAGGCCTCACACTTCCTGATT TCAAAGCATATTACAAAGCTACAGTAATCAGAAAAGTATGGTACTGGTAT AAAGACAGACCTATAGACCAATGGAACAGAATAGAGAGGCCAGAAATAAA CCCTCGTGTATATGGTCAAATGATCTTCAGCAATGATGCCAAGACTACAC AATGGAGGAAAGGACAGTCTGCAAGAAATTGTGTTGGGAAAACTGGATAT ACATATGCAAAAGAGAAGACAGACTCTTACCACATATCTCATATAAAAAT TAACTCAAAATAGATTAAAGACTGAAATGTAAGGTCTATAAGTACAGAAC TTCAAGAAGAAAACACAGAGGAAAAGCTTCATGACATTGAAATGAACAAT AACTTCTTGTATATGACACCAAAAGCATAAGCAATAAAAGCAAAAATAGA CAAGTAGGACTACATCAAACTTAAAAACTTCTGTGTAGCAAAGAAAACAA TCAACACAGTGTCAAGGCATCCTACAGAGTGGAAGAAAATATATGCAAAC CATGTATCTGATAAAGGGTTAATGTTGCTGAGTGCAGTGGCACATGACTA TAGTTCAGCTATTCAGAGGCTGAGGTGGGAGGATCACTTGAACCCAGGAG TTCGAGACCAGCCAGGGCAACATAGTGAGACCTCTGTCTCAAAAAAAAGA AGATAAAGAGTTAATATCCAGGCCAGGCACTGTGGCTCATGGGTGTAATC CCAGCACTTTGGGAGGCCGAGGCAGATGGATCACTTGAGGTCAGGAGTTC ATGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAG AAGATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGA GGCTGAGGCAGAATAATCGCTGGAACCTGGGATGGGGAGGTGGTAGTGAG CTGAGATCACGCCATTGCACTCCAGCCGGGGTGACAAGAGCGAAACTCTG TCTGAAAAAAAAAAACAAAAAACAAAAAAACGAAGAAAGAGTTAATATCC AGAATATATGAAGAACTCCTATAATACAACAACAAAACAAATAATTAAAT AATGGGTGCTATGGGCTGAATTTTGTTTCCCCCAAATTCATATGCTGAAG CACATTTAATACCTCAATATGATGGTATTTAAAGATGGAGCCACTGGTAG GTAATTAGGGCTAGGTGATGTCATGAGGGTGGGACCCTTAGGATGACATT AGTGCTTTTGGTTGGGTGCGGTGTCTCATGCCTGTAATCCCAGCACTTTG GGAGGCTGAGGTGGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCT GGTCAGCATGGTAAAACCCCATCTCCACTGAAAATACAAAAATTAGCTGA TGTGCCCCTGTAGTCCCAGCTATGTGGGGGGCTGAGGCAGGAGAATTGCT TGAACCCGGGAGGTGGAGTTTGCAGTGAGCCGAGATTGCACCACTGAACT CCAGCCTGTGGCAACAGAATGAGGCTGTCTAAAAAAAAATCTTCTAGTAG GTATTATTGCTTTTATAAGAGGAAGAGAGAAATTTCTTCTCCTTCCTGCT GTTGGCACACAAATAATTCATGTAAATACACAGTGAGCTGGAGGCTGACT ACAAGTCAGGAAGAGAGCCCTCACTGGAACCCAACCATG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG02145.hp2 HG02280.hp2 others(6): Show HG00099.hp2 HG02145.hp2 HG02280.hp2 HG02970.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA19030.hp2 NA19043.hp1	a0006 a0006	a0006c0006 a0006c0010 a0006c0006 a0006c0010	a0006c0006t0003 a0006c0006t0011 a0006c0006t0022 others(1): Show a0006c0006t0003 a0006c0006t0011 a0006c0006t0022 a0006c0010t0003	a0006c0006t0003g0107 a0006c0006t0003g0109 a0006c0006t0003g0196 others(5): Show a0006c0006t0003g0107 a0006c0006t0003g0109 a0006c0006t0003g0196 a0006c0006t0003g0197 a0006c0006t0011g0108 a0006c0006t0022g0043 a0006c0010t0003g0198 a0006c0010t0003g0199	9	392	0.0230	-6138	c.302 others(16): Show c.302-3830_352-835del		PRDM7	ENSG00000126856.16	transcript	ENST00000449207.8	protein_coding	5/11						chr16	TogoVar
PRKD3_chr2_37245502_37329833	37253176	A A	AT AT	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00741.hp1 HG02257.hp1 others(14): Show HG00099.hp2 HG00741.hp1 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02922.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03516.hp1 HG03834.hp1 NA18522.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0015 a0002c0005 a0003c0007 a0001c0015 a0002c0005 a0003c0007	a0001c0015t0049 a0002c0005t0028 a0002c0005t0029 others(5): Show a0001c0015t0049 a0002c0005t0028 a0002c0005t0029 a0002c0005t0030 a0002c0005t0055 a0002c0005t0056 a0002c0005t0057 a0003c0007t0012	a0001c0015t0049g0254 a0002c0005t0028g0366 a0002c0005t0028g0370 others(14): Show a0001c0015t0049g0254 a0002c0005t0028g0366 a0002c0005t0028g0370 a0002c0005t0029g0364 a0002c0005t0029g0365 a0002c0005t0030g0362 a0002c0005t0030g0363 a0002c0005t0055g0368 a0002c0005t0056g0367 a0002c0005t0057g0369 a0003c0007t0012g0130 a0003c0007t0012g0240 a0003c0007t0012g0241 a0003c0007t0012g0242 a0003c0007t0012g0243 a0003c0007t0012g0244 a0003c0007t0012g0245	17	388	0.0438	1	c.267 others(5): Show c.2673dupA	p.Ter others(5): Show p.Ter891fs	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding	19/19	3481/6156	2673/2673	891/890			chr2	TogoVar
PRPF3_chr1_150316533_150358233	150324880	C C	CTTTT CTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0002 a0001c0006t0001 a0001c0007t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(297): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0004g0160 a0001c0001t0005g0322 a0001c0001t0006g0158 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0003t0002g0234 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0002g0237 a0001c0003t0002g0238 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0006t0001g0193 a0001c0007t0001g0258 a0002c0005t0001g0149	306	362	0.8453	4	c.-48 others(15): Show c.-48-6_-48-3dupTTTT		PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	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
PSG1_chr19_42861464_42884713	42868882	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(15): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00738.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01358.hp2 HG01975.hp2 HG02738.hp1 NA18971.hp2 NA18988.hp1 NA19010.hp2 NA20805.hp2	a0004 a0006 a0023 a0004 a0006 a0023	a0004c0005 a0006c0007 a0023c0035 a0004c0005 a0006c0007 a0023c0035	a0004c0005t0001 a0006c0007t0001 a0023c0035t0001 a0004c0005t0001 a0006c0007t0001 a0023c0035t0001	a0004c0005t0001g0037 a0004c0005t0001g0038 a0004c0005t0001g0096 others(11): Show a0004c0005t0001g0037 a0004c0005t0001g0038 a0004c0005t0001g0096 a0004c0005t0001g0103 a0004c0005t0001g0104 a0004c0005t0001g0105 a0004c0005t0001g0122 a0004c0005t0001g0123 a0004c0005t0001g0129 a0006c0007t0001g0024 a0006c0007t0001g0094 a0006c0007t0001g0097 a0006c0007t0001g0139 a0023c0035t0001g0128	18	408	0.0441	0	c.862 others(3): Show c.862C>T	p.Arg others(4): Show p.Arg288*	PSG1	ENSG00000231924.10	transcript	ENST00000436291.7	protein_coding	4/6	994/2062	862/1260	288/419			chr19	TogoVar
PSG7_chr19_42919132_42942207	42935542	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(373): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 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 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.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.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.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 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0004 others(19): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0005c0017 a0006c0018 a0008c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 a0001c0005t0004 a0001c0006t0001 a0001c0007t0002 a0001c0009t0004 a0001c0010t0004 a0001c0011t0001 a0001c0012t0002 a0001c0013t0001 a0001c0014t0001 a0001c0015t0004 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0005c0017t0002 a0006c0018t0001 a0008c0028t0005	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(319): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0018 a0001c0001t0002g0117 a0001c0001t0006g0011 a0001c0001t0006g0348 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0009g0048 a0001c0001t0011g0153 a0001c0001t0012g0175 a0001c0001t0013g0250 a0001c0001t0014g0309 a0001c0001t0015g0307 a0001c0001t0016g0352 a0001c0002t0002g0003 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0004g0337 a0001c0002t0004g0338 a0001c0002t0004g0340 a0001c0002t0004g0341 a0001c0002t0004g0342 a0001c0002t0008g0046 a0001c0002t0010g0064 a0001c0004t0002g0014 a0001c0004t0002g0071 a0001c0004t0002g0074 a0001c0004t0002g0082 a0001c0004t0002g0084 a0001c0004t0002g0086 a0001c0004t0002g0087 a0001c0004t0002g0138 a0001c0005t0002g0112 a0001c0005t0002g0113 a0001c0005t0002g0114 a0001c0005t0002g0115 a0001c0005t0002g0139 a0001c0005t0004g0339 a0001c0006t0001g0032 a0001c0006t0001g0239 a0001c0006t0001g0290 a0001c0007t0002g0004 a0001c0007t0002g0133 a0001c0009t0004g0045 a0001c0009t0004g0336 a0001c0010t0004g0010 a0001c0011t0001g0345 a0001c0011t0001g0346 a0001c0011t0001g0347 a0001c0012t0002g0057 a0001c0012t0002g0058 a0001c0013t0001g0165 a0001c0013t0001g0166 a0001c0014t0001g0247 a0001c0014t0001g0265 a0001c0015t0004g0343 a0001c0015t0004g0344 a0001c0020t0002g0054 a0001c0021t0002g0140 a0001c0022t0001g0263 a0001c0023t0001g0182 a0001c0024t0001g0271 a0001c0025t0001g0294 a0005c0017t0002g0070 a0006c0018t0001g0212 a0008c0028t0005g0148	376	416	0.9039	0	c.292 others(3): Show c.292C>T	p.Arg others(3): Show p.Arg98*	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/6	423/2067	292/1260	98/419			chr19	TogoVar
PTEN_chr10_87858625_87976930	87960876	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(84): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01175.hp1 HG01346.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp1 HG02602.hp2 HG02735.hp1 HG02818.hp2 HG02970.hp1 HG03486.hp1 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19059.hp2 NA19066.hp2 NA19075.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(27): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0084 a0001c0001t0099	a0001c0001t0002g0009 a0001c0001t0002g0144 a0001c0001t0002g0211 others(84): Show a0001c0001t0002g0009 a0001c0001t0002g0144 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0001t0002g0266 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0004g0009 a0001c0001t0004g0210 a0001c0001t0004g0212 a0001c0001t0004g0223 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0238 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0254 a0001c0001t0004g0258 a0001c0001t0004g0273 a0001c0001t0004g0277 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0006g0101 a0001c0001t0009g0102 a0001c0001t0009g0119 a0001c0001t0010g0124 a0001c0001t0011g0235 a0001c0001t0011g0267 a0001c0001t0011g0268 a0001c0001t0015g0108 a0001c0001t0015g0109 a0001c0001t0015g0110 a0001c0001t0015g0112 a0001c0001t0016g0215 a0001c0001t0016g0276 a0001c0001t0016g0289 a0001c0001t0017g0229 a0001c0001t0017g0239 a0001c0001t0017g0255 a0001c0001t0018g0259 a0001c0001t0018g0262 a0001c0001t0018g0263 a0001c0001t0019g0260 a0001c0001t0019g0261 a0001c0001t0019g0284 a0001c0001t0023g0111 a0001c0001t0023g0113 a0001c0001t0023g0114 a0001c0001t0038g0246 a0001c0001t0039g0265 a0001c0001t0043g0270 a0001c0001t0044g0253 a0001c0001t0045g0283 a0001c0001t0046g0237 a0001c0001t0047g0241 a0001c0001t0048g0221 a0001c0001t0049g0264 a0001c0001t0050g0245 a0001c0001t0051g0294 a0001c0001t0052g0236 a0001c0001t0053g0274 a0001c0001t0054g0216 a0001c0001t0055g0285 a0001c0001t0056g0269 a0001c0001t0084g0194 a0001c0001t0099g0209	87	322	0.2702	1	c.802 others(6): Show c.802-3dupT		PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
RETNLB_chr3_108750638_108762410	108757146	G G	GGGGGATT others(1): Show GGGGGATTA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(16): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00733.hp1 HG01074.hp1 HG01516.hp1 HG01993.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03195.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03927.hp2 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0007 a0004c0004t0004g0021 a0004c0004t0004g0007 a0004c0004t0004g0021	19	452	0.0420	8	c.32_ others(13): Show c.32_39dupTAATCCCC	p.Leu others(4): Show p.Leu14fs	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding	1/3	264/701	39/336	13/111			chr3	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
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
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
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
SLC22A10_chr11_63284903_63316783	63290453	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(160): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0009 a0002c0012 others(4): Show a0002c0002 a0002c0009 a0002c0012 a0002c0013 a0002c0014 a0002c0015 a0011c0019	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0009t0002 a0002c0012t0002 a0002c0013t0002 a0002c0014t0002 a0002c0015t0002 a0011c0019t0002	a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0005 others(95): Show a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0016 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0041 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0207 a0002c0002t0003g0052 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0007g0039 a0002c0002t0007g0104 a0002c0002t0009g0027 a0002c0002t0009g0135 a0002c0009t0002g0040 a0002c0012t0002g0063 a0002c0013t0002g0142 a0002c0014t0002g0080 a0002c0015t0002g0126 a0011c0019t0002g0045	163	402	0.4055	0	c.288 others(3): Show c.288G>A	p.Trp others(3): Show p.Trp96*	SLC22A10	ENSG00000184999.13	transcript	ENST00000332793.11	protein_coding	1/10	551/2638	288/1626	96/541			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63081015	A A	C C	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0006 a0007 a0008 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0017 a0002c0002 others(14): Show a0001c0001 a0001c0017 a0002c0002 a0002c0008 a0002c0024 a0002c0025 a0004c0004 a0006c0006 a0007c0007 a0007c0018 a0008c0011 a0008c0023 a0010c0010 a0011c0013 a0012c0014 a0014c0016 a0015c0022	a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 others(16): Show a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 a0002c0008t0001 a0002c0024t0001 a0002c0025t0001 a0004c0004t0001 a0006c0006t0001 a0007c0007t0002 a0007c0007t0004 a0007c0018t0002 a0008c0011t0001 a0008c0023t0001 a0010c0010t0001 a0010c0010t0006 a0011c0013t0001 a0012c0014t0001 a0014c0016t0001 a0015c0022t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(263): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0273 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0319 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0017t0001g0089 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0118 a0002c0002t0001g0125 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0147 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0231 a0002c0002t0001g0235 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0270 a0002c0002t0001g0284 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0312 a0002c0002t0001g0337 a0002c0002t0001g0346 a0002c0002t0001g0348 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0008t0001g0262 a0002c0008t0001g0280 a0002c0008t0001g0281 a0002c0008t0001g0282 a0002c0008t0001g0283 a0002c0008t0001g0313 a0002c0008t0001g0314 a0002c0008t0001g0320 a0002c0008t0001g0328 a0002c0024t0001g0139 a0002c0025t0001g0153 a0004c0004t0001g0004 a0004c0004t0001g0095 a0004c0004t0001g0110 a0004c0004t0001g0124 a0004c0004t0001g0140 a0004c0004t0001g0152 a0004c0004t0001g0179 a0004c0004t0001g0227 a0004c0004t0001g0228 a0004c0004t0001g0229 a0004c0004t0001g0230 a0004c0004t0001g0232 a0004c0004t0001g0233 a0004c0004t0001g0234 a0004c0004t0001g0236 a0004c0004t0001g0237 a0004c0004t0001g0238 a0004c0004t0001g0239 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0242 a0004c0004t0001g0243 a0004c0004t0001g0244 a0004c0004t0001g0245 a0004c0004t0001g0246 a0004c0004t0001g0271 a0004c0004t0001g0272 a0004c0004t0001g0306 a0004c0004t0001g0307 a0004c0004t0001g0308 a0004c0004t0001g0309 a0004c0004t0001g0310 a0004c0004t0001g0315 a0006c0006t0001g0269 a0006c0006t0001g0311 a0006c0006t0001g0316 a0006c0006t0001g0317 a0006c0006t0001g0321 a0006c0006t0001g0322 a0006c0006t0001g0323 a0006c0006t0001g0324 a0006c0006t0001g0325 a0006c0006t0001g0326 a0006c0006t0001g0327 a0006c0006t0001g0329 a0006c0006t0001g0330 a0006c0006t0001g0331 a0006c0006t0001g0332 a0006c0006t0001g0333 a0006c0006t0001g0334 a0006c0006t0001g0335 a0006c0006t0001g0336 a0006c0006t0001g0338 a0007c0007t0002g0064 a0007c0007t0002g0065 a0007c0007t0002g0066 a0007c0007t0002g0069 a0007c0007t0002g0073 a0007c0007t0002g0074 a0007c0007t0002g0075 a0007c0007t0002g0076 a0007c0007t0002g0077 a0007c0007t0002g0078 a0007c0007t0002g0079 a0007c0007t0002g0080 a0007c0007t0002g0081 a0007c0007t0002g0082 a0007c0007t0004g0003 a0007c0007t0004g0085 a0007c0018t0002g0023 a0008c0011t0001g0131 a0008c0011t0001g0274 a0008c0011t0001g0275 a0008c0011t0001g0276 a0008c0011t0001g0277 a0008c0011t0001g0279 a0008c0023t0001g0278 a0010c0010t0001g0090 a0010c0010t0001g0091 a0010c0010t0001g0092 a0010c0010t0001g0093 a0010c0010t0001g0094 a0010c0010t0006g0362 a0011c0013t0001g0340 a0011c0013t0001g0341 a0011c0013t0001g0342 a0011c0013t0001g0343 a0012c0014t0001g0087 a0012c0014t0001g0088 a0014c0016t0001g0086 a0015c0022t0001g0318	268	366	0.7322	0	c.150 others(4): Show c.1503T>G	p.Tyr others(4): Show p.Tyr501*	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	9/10	1945/2101	1503/1659	501/552			chr11	TogoVar
SLC26A5_chr7_103369207_103451207	103421569	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG04184.hp1 HG00099.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0090 a0001c0001t0001g0094	2	342	0.0059	0	c.-53 others(5): Show c.-53-2A>G		SLC26A5	ENSG00000170615.16	transcript	ENST00000306312.8	protein_coding	2/19						chr7	TogoVar
SLC35G6_chr17_7476446_7488496	7482961	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.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 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0011	a0001c0001 a0001c0009 a0002c0002 others(6): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0006c0006 a0007c0008 a0008c0007 a0009c0012 a0011c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0009t0001 a0002c0002t0002 a0002c0002t0010 a0004c0004t0001 a0006c0006t0001 a0007c0008t0001 a0008c0007t0001 a0009c0012t0001 a0011c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0009t0001g0001 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0010g0001 a0004c0004t0001g0001 a0006c0006t0001g0001 a0007c0008t0001g0001 a0008c0007t0001g0001 a0009c0012t0001g0001 a0011c0014t0001g0001	317	412	0.7694	0	c.977 others(3): Show c.977G>A	p.Trp others(4): Show p.Trp326*	SLC35G6	ENSG00000259224.3	transcript	ENST00000412468.4	protein_coding	2/2	1048/1583	977/1017	326/338			chr17	TogoVar
SLC5A9_chr1_48217716_48253638	48242556	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00280.hp2 HG00639.hp2 others(35): Show HG00099.hp2 HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG02258.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03492.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp2 NA18906.hp2 NA18969.hp1 NA18989.hp1 NA19004.hp2 NA19030.hp1 NA19058.hp1 NA20805.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0003c0008 a0011c0022 a0003c0003 a0003c0008 a0011c0022	a0003c0003t0001 a0003c0003t0002 a0003c0008t0002 others(1): Show a0003c0003t0001 a0003c0003t0002 a0003c0008t0002 a0011c0022t0002	a0003c0003t0001g0004 a0003c0003t0002g0004 a0003c0003t0002g0019 others(24): Show a0003c0003t0001g0004 a0003c0003t0002g0004 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0068 a0003c0003t0002g0133 a0003c0003t0002g0248 a0003c0003t0002g0249 a0003c0003t0002g0255 a0003c0003t0002g0258 a0003c0003t0002g0259 a0003c0003t0002g0260 a0003c0003t0002g0263 a0003c0003t0002g0264 a0003c0003t0002g0269 a0003c0003t0002g0271 a0003c0003t0002g0272 a0003c0003t0002g0310 a0003c0008t0002g0050 a0003c0008t0002g0261 a0003c0008t0002g0262 a0003c0008t0002g0268 a0003c0008t0002g0306 a0011c0022t0002g0067	38	420	0.0905	0	c.177 others(4): Show c.1777G>T	p.Glu others(4): Show p.Glu593*	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/14	1798/3162	1777/2046	593/681			chr1	TogoVar
SLC6A18_chr5_1220381_1251189	1240642	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0006 a0007 others(4): Show a0001 a0006 a0007 a0008 a0010 a0013 a0015	a0001c0002 a0001c0005 a0001c0009 others(16): Show a0001c0002 a0001c0005 a0001c0009 a0001c0016 a0001c0029 a0001c0041 a0006c0008 a0006c0021 a0006c0045 a0006c0046 a0006c0047 a0006c0048 a0007c0007 a0008c0015 a0008c0022 a0008c0050 a0010c0012 a0013c0018 a0015c0024	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 a0001c0009t0002 a0001c0016t0001 a0001c0029t0002 a0001c0041t0004 a0006c0008t0003 a0006c0008t0004 a0006c0021t0004 a0006c0045t0003 a0006c0046t0004 a0006c0047t0004 a0006c0048t0004 a0007c0007t0002 a0008c0015t0004 a0008c0022t0003 a0008c0022t0004 a0008c0050t0004 a0010c0012t0003 a0010c0012t0004 a0013c0018t0004 a0015c0024t0002	a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 others(157): Show a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0071 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0108 a0001c0002t0001g0129 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0157 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0001g0310 a0001c0002t0001g0326 a0001c0002t0001g0342 a0001c0002t0001g0393 a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0038 a0001c0002t0002g0042 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0089 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0105 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0135 a0001c0002t0002g0145 a0001c0002t0002g0150 a0001c0002t0002g0153 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0283 a0001c0002t0002g0286 a0001c0002t0002g0308 a0001c0002t0002g0322 a0001c0002t0002g0325 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0352 a0001c0002t0002g0365 a0001c0002t0002g0374 a0001c0002t0002g0388 a0001c0002t0002g0389 a0001c0005t0001g0152 a0001c0005t0002g0005 a0001c0005t0002g0006 a0001c0005t0002g0025 a0001c0005t0002g0103 a0001c0005t0002g0116 a0001c0005t0002g0117 a0001c0005t0002g0119 a0001c0005t0002g0120 a0001c0005t0002g0121 a0001c0005t0002g0315 a0001c0005t0002g0349 a0001c0005t0002g0350 a0001c0005t0002g0351 a0001c0005t0002g0353 a0001c0005t0002g0362 a0001c0005t0002g0369 a0001c0009t0001g0137 a0001c0009t0002g0047 a0001c0009t0002g0139 a0001c0009t0002g0141 a0001c0009t0002g0146 a0001c0009t0002g0147 a0001c0009t0002g0148 a0001c0009t0002g0159 a0001c0009t0002g0160 a0001c0009t0002g0161 a0001c0016t0001g0001 a0001c0016t0001g0069 a0001c0016t0001g0348 a0001c0016t0001g0368 a0001c0029t0002g0276 a0001c0041t0004g0296 a0006c0008t0003g0179 a0006c0008t0003g0213 a0006c0008t0003g0215 a0006c0008t0003g0226 a0006c0008t0003g0228 a0006c0008t0003g0230 a0006c0008t0003g0246 a0006c0008t0004g0192 a0006c0008t0004g0194 a0006c0008t0004g0225 a0006c0008t0004g0233 a0006c0021t0004g0184 a0006c0021t0004g0185 a0006c0021t0004g0186 a0006c0045t0003g0008 a0006c0046t0004g0188 a0006c0047t0004g0238 a0006c0048t0004g0229 a0007c0007t0002g0012 a0007c0007t0002g0013 a0007c0007t0002g0014 a0007c0007t0002g0021 a0007c0007t0002g0049 a0007c0007t0002g0070 a0007c0007t0002g0072 a0007c0007t0002g0073 a0007c0007t0002g0074 a0007c0007t0002g0084 a0007c0007t0002g0341 a0007c0007t0002g0363 a0007c0007t0002g0364 a0008c0015t0004g0248 a0008c0015t0004g0253 a0008c0015t0004g0254 a0008c0015t0004g0255 a0008c0015t0004g0257 a0008c0022t0003g0256 a0008c0022t0003g0259 a0008c0022t0004g0261 a0008c0050t0004g0264 a0010c0012t0003g0032 a0010c0012t0003g0240 a0010c0012t0003g0241 a0010c0012t0003g0242 a0010c0012t0004g0239 a0010c0012t0004g0243 a0013c0018t0004g0031 a0013c0018t0004g0214 a0013c0018t0004g0227 a0015c0024t0002g0011	181	456	0.3969	0	c.957 others(3): Show c.957C>G	p.Tyr others(4): Show p.Tyr319*	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	7/12	1054/2095	957/1887	319/628			chr5	TogoVar
SLFN13_chr17_35430096_35453766	35445639	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00741.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG02027.hp2 HG02071.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02818.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03831.hp2 NA18747.hp1 NA18939.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18966.hp1 NA18974.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18987.hp1 NA18992.hp1 NA19001.hp2 NA19007.hp2 NA19009.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp2 NA19077.hp2 NA19083.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0014 a0002c0023 others(6): Show a0002c0002 a0002c0014 a0002c0023 a0002c0024 a0002c0039 a0002c0040 a0002c0041 a0002c0042 a0002c0043	a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 others(17): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0021 a0002c0002t0051 a0002c0002t0052 a0002c0002t0054 a0002c0002t0057 a0002c0002t0059 a0002c0002t0060 a0002c0014t0002 a0002c0014t0003 a0002c0023t0014 a0002c0024t0001 a0002c0024t0005 a0002c0039t0003 a0002c0040t0003 a0002c0041t0003 a0002c0042t0003 a0002c0043t0003	a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0003g0060 others(25): Show a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0003g0060 a0002c0002t0003g0125 a0002c0002t0003g0184 a0002c0002t0003g0204 a0002c0002t0004g0188 a0002c0002t0011g0016 a0002c0002t0021g0037 a0002c0002t0021g0203 a0002c0002t0051g0202 a0002c0002t0052g0192 a0002c0002t0054g0193 a0002c0002t0057g0189 a0002c0002t0059g0194 a0002c0002t0060g0185 a0002c0014t0002g0195 a0002c0014t0003g0028 a0002c0014t0003g0084 a0002c0014t0003g0169 a0002c0023t0014g0059 a0002c0024t0001g0196 a0002c0024t0005g0190 a0002c0039t0003g0187 a0002c0040t0003g0168 a0002c0041t0003g0191 a0002c0042t0003g0197 a0002c0043t0003g0198	59	456	0.1294	0	c.42C others(2): Show c.42C>A	p.Tyr others(3): Show p.Tyr14*	SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding	3/6	247/8398	42/2694	14/897			chr17	TogoVar
SMAD5_chr5_136127845_136187733	136147819	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18994.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 others(108): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0036 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0001t0003g0138 a0001c0001t0005g0028 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0006g0010 a0001c0001t0006g0103 a0001c0001t0006g0106 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0007g0001 a0001c0001t0007g0070 a0001c0001t0010g0158 a0001c0001t0011g0024 a0001c0001t0011g0125 a0001c0001t0013g0067 a0001c0001t0013g0072 a0001c0001t0013g0078 a0001c0001t0014g0071 a0001c0001t0014g0136 a0001c0001t0014g0137 a0001c0001t0015g0021 a0001c0001t0015g0079 a0001c0001t0016g0080 a0001c0001t0016g0081 a0001c0001t0017g0073 a0001c0001t0017g0075 a0001c0001t0018g0013 a0001c0001t0020g0123 a0001c0001t0026g0007 a0001c0001t0027g0122 a0001c0001t0028g0066 a0001c0001t0029g0065 a0001c0001t0030g0001 a0001c0001t0031g0108 a0001c0001t0032g0074	140	294	0.4762	1	c.-24 others(7): Show c.-244-3dupT		SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
SMCO2_chr12_27441736_27507185	27495209	GTTTTCTC others(7014): Show GTTTTCTCTTTAGTGTGTATCTTAACATGTAATATAGAATGTATGTATGT GTTTAGCTGTTTATCACTTGCCCCCAGCCCCTGTAATAGATTGTATTCTT TGTCTATTTTGTTAACACTGTATCCTAGAACCTGTTAGCAGTAATCACCC AATAAATATGCTTTGCATAGATGAACGAGTTGAGTAGAGGAATTTAGTAC AAGGACATCTTCCTACATTAATAATCTAGTGGTTAAAGATTAGCATGTGG GTTTCATTTAGTTTTCTACCGTAGTGCTACCTTACACTGTGAATGTGTAT GTCTGCTTCTATTCAAGATGCACCTGCCAATGATCTGTTCATGGGACCTA TGTGTGATTTCTAATGTGGGCCCCCAAGGTGATCCAGAGGAAAAGCACTC AGCATTATCTATAGTAAGACTTGGAGACATTTAGAATTTTTTTAAGGTAC TTGATTACTCTTTTTTTTCAGGACCTTTGCAAGAATGTGGAACTGCTGAG TGCAAAGCTAAGGATGTATCAAATGGAGGCAGAGGACACTGACTCTCACA GTTCTGAGGAAATAGATACGGAAGAGATGGAGGCCCTGCTTCCTCAGGCC CCAGCATCCTTTTTAGTGCAGAAGTCTCCTCCCCGCAATACAGCATGGTA AGTCAGAGCAAGAGGCCATTCAGGGCTGGATGACTGCCCCAAAATGTATG GATTATGCTGGGATTGATTTTTTTCAAGTGTTGACTAAAATGTTTTGTTT TATTTTCGTTTGTAAATTATCTATGTTCTTTAAAAGTCATTGGAGTTCAT TGGAGTCATGGGATTTTTCTTATTTAGATAAAGATCTATTGCATTCGATA TATATAGATTGCTTTCTTACTGCTTCAGATAAATCTAAAGATTTATCTTT AGATAAATATATCTAAATATAGATAGATATATCTTCATGATCAAAGATAT ATGACCAAAGACCTCTTGTGGGTGGCTATTAATGTTAATTATATTTTTAG TTAGTCTGTTCCTTTTTGCCTGAAAACTCTTCCAAACAACATTAAGTCAA CACTTTAATTTTAAATTTTCTTCCATGATGGCTGCAAATACAGAGAAGCT TCTCTATACATTTCTATAGATATATAAAGATTTGTCTATGTATAGAGAGA TATAGATTTATTTCTATCTACATATCTATAGATGTATCTATAAAATCTAT CTATATCTATCTAAAATCTTAAAAGATGGTATCTATACATGATGAGGCAA CCACCTCCACTCTTATCAGTTATGTTCTTTTCATAAGAAATTTGAAAAGT TTTGTTTGCTGTGCAGGATGCCTTACCCTTGGATGGTATTGGAAACACAC TACCAGCAAATTCTGGCTCTTTGGATCCTGTCCAGGAGATGCCACACCAT CATTTACACCCTGAGAAGTAATTTCCTCTAAGAAAACATTTTTGATTCTT TATCTCCAACCACCAACCCAGGTAGAATCTCAGCTCTGTCTTCAATCAAG TCCTTTGCCCATTTTAAAGAATTGGGTTGTTCTTTTATTTTTTGCTGTTG AGTTGTAAAAGTTTATGTGCACACCTTGCACATAATCCTGTCGGACAGCC CATGGCATGTTATTGAAATTAAATTGTTTCACATCTGTCTTCTCCTAATA CTCCAAGGGATACACAAAAGCATGAATCTTATCTTCGTAATTTGGGGACT TGACGTATACAAGATGCTCATAATGCTCAAACAGATGTGTGCAGGCCACC TCATGTTGACCATCATAGGAGAGAGCATGTGCTGCCTCTTTGAATTTGCA GGATACGAGGTGCTTAGGTTAAACCATGTAGGAGATTGGGGGACCCAGTT TGACATGCATATTCCTCACCTGCAAGATAAATTTCCAGCTTGTCTAACAG TTTCACCTCCTATTGGAAATCTTCAGGCCTTTTGTAAGGAATCTAAGAGG TTTGATACTGAGGAGGAATTTAAGAAATGAGCATATCAGTGTCACATTCT GTTCCAGAGTAAAAATCCAGATATTATAAAAACTTGAAAGTTTATCTGTG ATATCTCCTGCCAATAGTTTAGTAAAATCTATGATGCTCTGGACATCTCT TTAATAGATAAAGAATAATTCTTCTGTCAAGATAGGATGAATGATGTAAA GGAATTTGATGATAGATGATTTGTGCAAGTGGATGATGGCAGAAAGTTTG TGTTGGTCCCAGGATGTTCCATACCATTAACCATGGTAAAATCAGATGGA GGCTGGGTGTGGTAGCTCATGCCTATAATCCAAGCACTTCGGGAGCCTGA GGCAGGTGGATCACTTGAGCCCCAGGAGTTTGAGACCAGCCTGGGCAACA AGGTGAAAACTTGTATCTACAAAAAAAAAAATTCAGTGACACATGCCTGT AGTTTTACCTACTGGGGAGGCTGAGGTGGGACTATCACCTGAGCCCAGGG AAGTCGAGGTTGTGGTGAGCCTGGAGATCGTGTCACTGCACTCCAGTTTG GGTAACAGAGTGAGACCTGGTCTCAAAAAAAAAAAAAAAAAATCAGATGG AGGTTATAACTATGATGCATCTGATCTGGCTGCTCTTAAGCAAAAACTAT TTGAGGAGAAAGAAGATATGGTTATCTCTGGGTGAACAGTGGACAATCTC TGCACTTCCAAAAAATATTTGCTGCTGCTCAAAAGATTGGTTGGTATGAT CCTAAAGTAACTAGAGTCTCCCGTGCTGGATTTGGTGTGTTGCTAGGGGA AGACAAGAAGTTTAATATATGTTCAGATGAAACAGTTCATCTCGTAGACC TGGAATAAGGACTAAAGTGATCCATGGACAAATTGAAGGAAAAAGAAAGA AGCAAGGTCTTAACTGCAGAGGAATTGAGTGCTGCTTAGACATCTGTTGC TTATGGCTGTATCAAATAAACTGAACTTTCCCATAACCGGTTGAGTGACA ACATCTTCTCGTTTGACAAAATGCTAGATGACAGAGGAAATACAGCTGCT TACTTTTTGTGTGGTTTCACTAGAACCAGGTCTATTGCACATCTGGCCAG TATCAATGATCAGATGCTCCAAAAAGCTGCTTGACAGACCAAGATTATTT TGCACCATGAGAAAGAATGGAAACTAGGCCATGGCATTTTATGGCTCCCT GAGATACAACAAAAGATTTTAGATGACTTACTTCTGGTTCTTGTGGTTCT ATATATGAGCTGGCAGCTACTTTCACAGAGTTCTATGATAGCTGCTATTG TGTGGAGAAAGATCGACAAGAGTGGAGAGATATTGAAGGTGAACATGTGG TGTACGCTGCTGCGTGAAGCAGTAGATGCTGTCCTGGCTGAGGAGTTCAA TATCCCGGGAATAAAACCTGTCCAAAGGATGTAATCCTGCTTAGGTTTGA ACACTGTATGTTTTTACCACACTGGTCACTAGCATTGTTTGCTTTTTTTT TAAATAACCATTATATTAACACAAGAACGTTTGTCAACTGTGAAAAAAAA ATAACTCTTACAACTCAACAACAAAAAGATAAACAACCCAGTTTGAAAAA CAGGCAAATGACTTGGATACACATTTCTTCAAAGAAGACACACAAACGGT CAACAAGCACATGAAAAGATGTTCAGCATCATTGGTCATTAAAAAAAACG TAAATCAAACCCACAATGAACCACAGTGGGATACCACTTAACATCCACTA AGATGACTACAGTAAAAAAGACAGACAATAACTAGCATTGGAGAGGATGT GGAGAAATTGGAACCCTCGTATATCACTGGTGGGATTGCGAAATGGTACA ACCACTTTTGAAAACAACTTGGCAGTTTCTAAAACGGTTAAATATAGAAT TACCACATGATTCCACAAGTCTACTCTTGGGTATATACTCAAAAGAATTG AAAATGTCCACACAAAAACCTGTACACAAATGTTCATGGCAGCATTATTC ATAATAGCCAAAAAGTAGAAACAATCCAAATGTCCGTTAACTGATGAATG GAAAAACAAAATGCAGTGTAGCCACACAATGAACTATTATTCAGCTGCAA AAAAGAATGATGTACTGATACATACCACAACATGATCTTAGAAAACATTG TGCTCAGTGAAAGACAGCCAGACACAGAGGGATATCCAAATGATTCCATC TATATGAATGTTCAAAGTAGGAAAATCCATATAGATTCAAAGTAGATTCA TGGTTTCCAGGCACAGAGTGTTGGGGAATAGGGAGATGGTGACTGCTCCA GGGAATGGGGTTTCTTTTTGGGGTGACAAAAATTTCCTGGAATTAGATAG TGGTGATGGTTGTACAGCCTTGTGACTAAACCAAAAGCCTCTGGATTGTA CAATGTATAGAGTGAATTTTATAGTATGTGACTAATAACTCCAAACCAAC CAACCAGACAAATAAGTAAATAGGTGAATGCCTTTCACGTATCGCTTTAT TGTGTTATATCGGAGGATTATAATCAGGCTGAGTTGCTCATCTTTTTCTC ACATGATTACATTCTAATTAAGATTGCCTGAAATTTTGCCCATCTCTTGT TAAAGAACTGGAGATATATTGGTTTAACTACAGCATATTTATACACTAAC ATCTTGAGGAAGTTTGCCTTATGGATTAATTCAATCATTATGAATCGATT TTTGCTGGTTTTAGCTTCACAAGGTGGCCTTTTATTGATAATGTCCCCTA GTCCTTCCATTCCCTTTATGGTCATCCCCTATGTACTGACCATAAATAAT GTGGAGATATTGGAAAAGATCAAAGGTTTTACACGTGGCAAGGTTTGAAA ATTAAATAAATAGTATTCAAAAGTTAAAAGAATATTTTATTATTTACCAA AGATGTCTAAAATGAATAAAATTATTAGTGACACATTTTTTTGGTTCTGT ACAGGTGATATGAGAAAACTTATTTCAATTTAGTTAACTATTTTTTTTTC CCAAAGAAAAATGTCTAGACCTTTTAAAATGAATATCATGCTTAGTAATA GAAAATTTAAATTTTTAAAACTTGTATTGACTTGTAAATAAAAATCAAAT GATTCATTACTGTCAAGAAATAAATATGAATTTAACTGTACCAAGAGTAT TTACCGTAGGACAGAAAAAACTAGATGAGTATACTCTAAATGTAGGGAAA AAATTAAACTAAAAACTAAGACAAAATAAAAAGAATGAATGAATAAATGG AAGAAAGGAAAAAAGATAAAAAATGTGTCTGGTTATATTTGGGTGATGAG ATTATAGTTTCCTCATTTCTCTGTTTTCCAAATTATCTTTGCTTTAGAAA ATTTGTTTTACTTTCCAAAAACTTAATGTTAAAATGTGTTTCTTTGAAAA TGTCATAGTTTAGTATTTCCAAAGATGACTGGTTTTTTAATTTAGGAGGA ACAGTGTTTATTTACTAGATAGTTTTCGTAGTGAGTTGTTTTTCTTTTCA TAAGAAAGAACAAATCTGCCTTTGGTGCTCCTTGAAGGCAGGACACATCT GCTTCCTGTTATCAGCTCTCTAAGCCCCTTCCTAATAGAGTATCTTAAGA ACATTGGCTCTTTAATAAATGTGTGAAGTGAAAGCAATTATGTGTGTAAC TGCCAAGTGATAGCCAGTGGGGATAATGGCGAGAAACTTGGCTCTGGTTT ATAAAACCACTGAGTTAGGTCACAAAATCGATCCATGGCTAGCTTTAACT ATGCTCTAGATTTTCTCTTCTGATGTATTATAGATGGTAATTATCTCAGG TAATTGGATGATCTATGACATTTCTTCTTTGTGTTCTTCTGGATTTTCTG CCCTAATCATATAATACATTTATAACTAGAAAATAATAATGCAAGGACTT AGAATCATATCAATAAAATATGTCATAGGTGCAACCCAGAAGGATGGGTC CTCAAGGATTTAAAAAAGCTTCTATTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGACATGAACCCAAGAGGCAGAGCTTGCAG TGAGCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAACAAACAAACAAAACAAAACAA AAAAAGCTTCTATTATTTTACAAATAAAAGTCTGGTGCCAGGACAAAAAC TAGGGGCAAAGAGCTCTGAATTCCCTTTATCACGTTATACTTTGTGTCCT GGGGAAAATCTAACTGCCTGTGCCTTTGTTTGCTCAAAAAGAGACATCAT ATACATCATGAGTGAGGTAAAGATTGCAATAACCTGCTAGGATGTGAGAA GGACATTTCAAAGGAAAGAACCCCACACTATCCAGGGATTTTATTGTTTC ATGGCTATAGGATCTTGAAATTCCAATGCCAGACCTAGCATGAACATAAA TAAGTGCTCCTCCATTCCAAGCTGCTGCTTTTACAAATGTAAACTGAAGT CAAGAGAAAATTACTTAGTTGAAGTTTTAGAGCTACCTGGGTGGAGGTGC CAGGAGCCTATCAATGTGATTATTTTCAGAATTTGGTTAACACAGATGTT TTCTCTCTTTGTAGGAAACGTGCACTGAGGATTTTCATCATGTTTGATGT CCTCACCGTCACTGGACTTTTATGTTACATACTATTTTTTGGTGCTACAT TTCTCTTTGAAAGGGTGCTTCTGAGAATGCTTGGGTGCCGCACCACATGG GACCTACGGGAGATGAGAGAGCCTTTCTTGAATTTGGAAGTGGAAGCCTT GTTACCCTCCTAAAGATACAGAAGTTACTGTCACCCTACTGACTTTCTCA CCAGTAAACATTGTGGCTGTTCCTGTATTGTGGTGGCTAACTTATTTTTC AAAAAATAACGTACAAGGTTTT	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp2 HG01069.hp2 HG01071.hp2 others(18): Show HG00099.hp2 HG01069.hp2 HG01071.hp2 HG02015.hp2 HG02055.hp1 HG02258.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp1 NA18986.hp2 NA19011.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0000 a0000	a0000c0006 a0000c0010 a0000c0017 others(1): Show a0000c0006 a0000c0010 a0000c0017 a0000c0022	a0000c0006t0005 a0000c0006t0006 a0000c0010t0006 others(2): Show a0000c0006t0005 a0000c0006t0006 a0000c0010t0006 a0000c0017t0005 a0000c0022t0006	a0000c0006t0005g0015 a0000c0006t0005g0166 a0000c0006t0005g0167 others(16): Show a0000c0006t0005g0015 a0000c0006t0005g0166 a0000c0006t0005g0167 a0000c0006t0005g0289 a0000c0006t0005g0290 a0000c0006t0005g0291 a0000c0006t0005g0292 a0000c0006t0005g0293 a0000c0006t0005g0294 a0000c0006t0006g0006 a0000c0006t0006g0033 a0000c0010t0006g0238 a0000c0010t0006g0332 a0000c0010t0006g0333 a0000c0010t0006g0334 a0000c0010t0006g0335 a0000c0017t0005g0020 a0000c0017t0005g0024 a0000c0022t0006g0030	21	360	0.0583	-7021	c.658 others(12): Show c.658-470_*109del		SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	8/9						chr12	TogoVar
SNX27_chr1_151607050_151704080	151692406	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(82): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01168.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01884.hp1 HG01934.hp1 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02486.hp1 HG02615.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG03130.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp2 NA18985.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(48): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0067 a0001c0001t0071 a0001c0001t0073 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0001t0090 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0101 a0001c0001t0103 a0001c0001t0112 a0001c0001t0120 a0001c0001t0121 a0001c0001t0123 a0001c0001t0124 a0001c0001t0126 a0001c0001t0130 a0001c0001t0137 a0001c0001t0179 a0001c0006t0097 a0001c0007t0001 a0002c0002t0048	a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 others(82): Show a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0142 a0001c0001t0003g0153 a0001c0001t0004g0139 a0001c0001t0004g0316 a0001c0001t0005g0140 a0001c0001t0005g0150 a0001c0001t0006g0189 a0001c0001t0009g0008 a0001c0001t0011g0243 a0001c0001t0011g0262 a0001c0001t0011g0265 a0001c0001t0011g0266 a0001c0001t0011g0276 a0001c0001t0013g0171 a0001c0001t0015g0296 a0001c0001t0016g0324 a0001c0001t0018g0315 a0001c0001t0019g0263 a0001c0001t0019g0269 a0001c0001t0019g0277 a0001c0001t0019g0278 a0001c0001t0019g0279 a0001c0001t0023g0331 a0001c0001t0025g0135 a0001c0001t0025g0185 a0001c0001t0026g0114 a0001c0001t0026g0133 a0001c0001t0027g0343 a0001c0001t0027g0347 a0001c0001t0027g0348 a0001c0001t0028g0144 a0001c0001t0033g0223 a0001c0001t0041g0345 a0001c0001t0042g0112 a0001c0001t0042g0151 a0001c0001t0045g0288 a0001c0001t0045g0332 a0001c0001t0046g0192 a0001c0001t0055g0115 a0001c0001t0055g0124 a0001c0001t0057g0294 a0001c0001t0059g0206 a0001c0001t0060g0260 a0001c0001t0060g0261 a0001c0001t0067g0361 a0001c0001t0071g0152 a0001c0001t0073g0344 a0001c0001t0081g0009 a0001c0001t0082g0123 a0001c0001t0084g0138 a0001c0001t0086g0131 a0001c0001t0090g0285 a0001c0001t0094g0336 a0001c0001t0095g0334 a0001c0001t0096g0333 a0001c0001t0101g0203 a0001c0001t0103g0274 a0001c0001t0112g0208 a0001c0001t0120g0335 a0001c0001t0121g0268 a0001c0001t0123g0339 a0001c0001t0124g0275 a0001c0001t0126g0270 a0001c0001t0130g0267 a0001c0001t0137g0338 a0001c0001t0179g0257 a0001c0006t0097g0337 a0001c0007t0001g0134 a0002c0002t0048g0219	85	366	0.2322	1	c.124 others(7): Show c.1240-3dupT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA31C1_chr9_87912962_87928657	87923328	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp1	a0027 a0027	a0027c0060 a0027c0060	a0027c0060t0001 a0027c0060t0001	a0027c0060t0001g0003 a0027c0060t0001g0003	1	388	0.0026	0	c.342 others(4): Show c.3421C>T	p.Gln others(5): Show p.Gln1141*	SPATA31C1	ENSG00000230246.9	transcript	ENST00000706933.1	protein_coding	4/4	3450/3779	3421/3567	1141/1188			chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88135258	ATTGGAGT others(3483): Show ATTGGAGTCGGTGGCTTGAGGTTACCTATTTCATAGCCTTTGAAAATCTG TAGTTGACTCTGAAATTTTGGCTATGTACCAGGGATTTTTATTTTCAGAA TCTCGTTCGTCCTCAACTCCGGCTTTCCCACACAATGTTTTTGTCTTCTG TGAATCCAGGGACAAAATGTAAATTTCTTTTACTCTTATTTAGTTTTGCA AATTTTGAATAGTAAGTTTTAAAAAATTATTTCTATCTCACTTTCCTTTT TTTTTATTTTTTTTATTTTTTTGAGACGGAGTCCCTCTCTGTCGCTCAGG CTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGG TTCCAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCG CCCACCACCACCACGCCCTGCTAATTTCTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCGGACCTTGTGAT CTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTG CGCCCATCCTTCTATCTCACTTTGAATCAAAGGGACCTACCCACATACAA TTAAGATTTTTTTAAAATTCTATTTATGTACTTATGTAATTTTATTTTAA GTTCCGGGGTACATGTGCAGGACCTGCAGTTTTCCTTTCTTTTTGAGATG GAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGCTCTTGGCTC ACTGCAACCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCATGTGCTACCACGCCCGGCTAATTTTTTG TATTTTTGGTAGAGACTGGGTTTCACCGTGTTGGCCAGGATGGTCTTGTT CTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGTGCCGGGCCTGCTGTCTTATTTTAATGTCTCTCT GGGCTTGATAATTTAAAAGGACTGGCATTCCTCTGATAAAAGTTATTTTA TTTTCTCATTTTCCATCAATCTATCCTGTTCAGTGAAATATCGGTTCGTG CCTTTAGCCCATTTTCTAATTGGCTTGTTTTTTCTTGTTGTCGTTGTTGA CTTTTGAAAACTTTAAACAATATTCTAGATATGAGCTCCTTGTCAGATAT GGTTTATCAGGTGTGGTTTGCACTTTTCTTCCAGTTTTTACCCTGTCTTT ATTAACAGGCTCTTATGCAGGGCAAAAGTTTTAAATTTTGATAACATCCA ATTAATAAATTCTTAGAATTGATTGTGCTTTTCTGGTTCATGTCTAATAA TTATTCATCAAGTCCTAGGACCTGAAGAATTTCTCATTAAATTTCATATT TTTACATTGAGATGTGATCTTTTTTTTTTTTTTGAGATGGAGTCTTCCTC CATCTTCATATCTGACCACCATTGGTATCTAATTGGTTTTCTTATTGTCT ACCATCCCCAGGTGATATCTGATCACTCTGGCATGGCTTCAGCAAGAATT CTGTGAGGTCAGTTTAGCCAGATTCCCTCCTATTAGTAATTTTCCATACA CTACCACCCCTCCACCCTGCTCTGTGGCTATAAAATTTCTATTCAGAGGG AAACCTGAATATATGGAAACTGGAGATTACTGCAAGACCCTATTGCAGTA ATCTCTATATCTATTGCAATAATCCCTCTGAATAACGTTTGTCTTACTAT TTTTTAACAGGTGTCACGAATAGTTTTTTCTATAATACAGCTCAACAAAA CAAGTCTGAAATAGAAGAATAAAGTGGGAGGAATTATTCTACCCAATTTT TTAACTTTTTACATAGCTACAGAAATCAAGACAGTGTGGTATTGGCAGGG GGACAGACAGTTCAATAAAACAGAATTGAGAACTCAGAAATAGTTCCATA CAAGTACAACCAACTGACTTTTGAAAAAAGTGCAATATCGGTTCAATAGT ACAGTGGTTCTGGAGCAGTTAGATACCATAGACAAAACAATAACCTCAAT CTAACCTCATGTCTTTATTAAAAAAAAAAAGGATCAGCCGGGCGCGGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACC TGAAGTCAAGAGTTTGAGACCAGCCTGGCCATGGTGAAACCCCATCTCTA CTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCC AGCTACTCAGGACGCTAAGACAGGAGAATAGCTTGAACTCTGGAAGCAAA GGTGGCACTGAGCCGGTATCGCTCCATTTCACTGCAGCCTGCACAAAAAA CAAAATAAATAAAAATAACACACAAACACACACGCACACACACAGGGATT TTCAATATGAGGTCCACCATGGACGCCATCAGTCCCTGTTCCTCTGCTCC AGGAACACCCAGGCTCAGGCCCGCAGGCACCACTGAGCTGTCAGGTAGCA TTCTGCTTGCCAGGAGACCAGAGGAGATGCCAGGCCCCGGTGGGAGGCCC TCGGGGGCCCAGCACAGGCCCCATATCACCCCACACAGAAGAGGCTGGGT CCCGAGCCACCTGCCCCAGGAAGGGACTGATGAGCCAGGGCTCAGGGCCT GGCCTCGGACAGAGACCTCCCATCTCATGACCAGAGACCTCCCCCGTCTC ATGACCAGAGACCTCCCCCGTCTCATGACCGGTCCTGGCCGCTGAGCCCA CGGGTTTGATTTTGCCTTCATGCCTCCTGCGCTCCCCCACAGATGGACTG AGAGCTTGGGATGGAAATCCCAGTACACGATCTACCCCTACCAACCCCTG GCTGCCCTGCCTCTCCCTGGAAGCATGCTGTTCTGGTCTCTCCTGAGACT TCCCATCGCAGAAGTCTCCACTGGATTTGGAAAGGTGGAACTAATAATAA AAAGAAAGAAGAGAATCAAGCTCTGTGGGTCTGGACTGAGAGCTCCTTAC CTTTCTCTTCCTAGGCGATGGTGAGGGTGGGTTGTCACAACGGAGGTAAG AGAAGTAGGGGAGTAATAGGAAGAAGAACCCCAGGGCAAACACCAAGGTG AGGAAGATATCCAACACCCATGGTGTGGAGCTGGGGGTGTTTAGTGATGA GGCACTAAGTAATTTTAGAGGAAAGGGAAGATTCTCCATGTGAATAGGCG CATTGCTTTCTAGCAACTGAGCTCTGGGCATCCTCGTGGAGACTAGGGAC TGGGGCCCAGGCCCGCATCACAGAGCTGGGGCTTCACATCACAAAGGGCT CCTTTGTTGGGGAGGGGCAGTAGGAGGGGGAGGCCGAAGCACAGCCCCTC CCCACCCTCCAAGCCGGGGATCCCTTCACCCTCCCGCCTTCCAGATCCCT CCTTCGCACTAAGTTTTGTCAGTGATAGAACTCAGCCAGTTTTCTATTCT TTCTCCCTGGAACACAGATATTACCTGGTTCCTTTTATCTG	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00099.hp2 HG01070.hp1 HG01123.hp2 others(8): Show HG00099.hp2 HG01070.hp1 HG01123.hp2 HG01358.hp2 HG03139.hp2 HG03927.hp2 NA18940.hp1 NA18993.hp1 NA19000.hp2 NA19068.hp1 NA20805.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0069 a0005c0006t0003g0070 a0005c0006t0003g0071 others(5): Show a0005c0006t0003g0069 a0005c0006t0003g0070 a0005c0006t0003g0071 a0005c0006t0003g0314 a0005c0006t0003g0315 a0005c0006t0003g0316 a0005c0006t0003g0317 a0005c0006t0003g0318	11	446	0.0247	-3490	c.-30 others(13): Show c.-302_190-1590del		SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/4						chr9	TogoVar
SPATA31F3_chr9_34884066_34900764	34893048	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00642.hp2 HG00733.hp2 others(40): Show HG00099.hp2 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG02080.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18950.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18989.hp1 NA19056.hp1 NA19063.hp2 NA19065.hp2 NA19072.hp1 NA20752.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0005 a0004c0004t0001g0042 a0004c0004t0001g0043	43	434	0.0991	-1	c.355 others(4): Show c.355delG	p.Ala others(5): Show p.Ala119fs	SPATA31F3	ENSG00000187791.13	transcript	ENST00000340783.11	protein_coding	4/5	397/967	355/627	119/208			chr9	TogoVar
SPATC1L_chr21_46156160_46189459	46183498	CAGGGGAG others(309): Show CAGGGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGGGAGACCAGCCT GGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGACCAG CCTGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGCCTGCGGGGGAGAC CAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGA GACCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGG GAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGT GAGGAGACCAGCCTGGG	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG00099.hp2 HG01069.hp1 HG01071.hp1 others(29): Show HG00099.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02896.hp1 HG02976.hp2 HG03130.hp2 HG03239.hp2 HG03688.hp2 HG04184.hp1 NA18906.hp1 NA19043.hp1 NA20752.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0012	a0001c0001 a0001c0003 a0004c0005 others(2): Show a0001c0001 a0001c0003 a0004c0005 a0008c0017 a0012c0014	a0001c0001t0006 a0001c0001t0008 a0001c0003t0005 others(5): Show a0001c0001t0006 a0001c0001t0008 a0001c0003t0005 a0001c0003t0009 a0001c0003t0025 a0004c0005t0006 a0008c0017t0009 a0012c0014t0028	a0001c0001t0006g0010 a0001c0001t0006g0035 a0001c0001t0006g0064 others(26): Show a0001c0001t0006g0010 a0001c0001t0006g0035 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0008g0021 a0001c0001t0008g0194 a0001c0001t0008g0195 a0001c0001t0008g0196 a0001c0001t0008g0197 a0001c0001t0008g0198 a0001c0003t0005g0024 a0001c0003t0005g0025 a0001c0003t0005g0026 a0001c0003t0005g0027 a0001c0003t0005g0028 a0001c0003t0005g0029 a0001c0003t0005g0030 a0001c0003t0005g0031 a0001c0003t0005g0032 a0001c0003t0005g0033 a0001c0003t0009g0008 a0001c0003t0009g0036 a0001c0003t0009g0037 a0001c0003t0009g0038 a0001c0003t0025g0023 a0004c0005t0006g0040 a0008c0017t0009g0039 a0012c0014t0028g0041	32	251	0.1275	-316	c.-95 others(12): Show c.-958-40_-683del		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5				683		chr21	TogoVar
SPDYE3_chr7_100302702_100327196	100313637	GATTGCTT others(1385): Show GATTGCTTGAACTCAGGACTTTGAGGCTGCAGTGAGCTATGACTGCACCA CTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGCGTCAAAAGAAAAAC CAAGGCTGGGCACAGTAGCTCATGCCTGTAGTTCCAGCTACTCGGGAGGC TGAGACAGGAGAATCGCTTGAGCCTGGGAGGAAGAGGGTGCAGTGAGCCG AGATCGTGCTACTGCACTCCAGTCTGGGTGAGAGAGTGAGACGCTGTCTC AAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAAAGAAGGGTCAGAGG TCAGGAAGGAGAACCTGGGGAGGGTGTGTGGGAAGAATGGAGAAATTCAG GCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAG GCAGGCGGATCACGTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATG GTGAAACCCCCGTCTCTACTAAAAGTACAAAATTGAGCTGGGCATTATGG CAGGCACCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATAACT GGAATCCGGGAGATAGATGTTGCAGTCAGCTGAGATTGCACCACTACACT CCAGCCTGGGTGACAAAGCAAGATTCTGTCTCGAAACAAAAAAAAAAAGA GGGCCTCAGAGAGCCAGGGACCAGGGAACGATATGACGCAGTGTTCTGAG GACAGAGAGAGGGAAGAATGGGGAGGGGAAGGAGTGGCACATGGGGTTGA GCAGAGGAGAAAGTCAGAAAGGTGGCTTGGAGAAGCCAGCAGTCTGAGAG GCTGGGGAGGATGGAGAGTGGTTTGGGGTTTGGGGTCGGGGTCTAACGTG ATCAGTTGCAGAAGCATTACACGGTGGCCTGGTTTCTTTACTCAGCCCCT GGGGTAGATCCCAGCCCCCCGCGTAGGTCCCTTGGCTGCAAAAGGAAGAG GGAGTGTTTGGATGAATCTGATGATGAGCCAGAGAAGGAGCTCGCCCCTG AGCCTGAGGAGACCTGGGTGGCGGAGACGCTGTGTGGCCTCAAGATGAAG GCGAAGCGACGGCGAGTGTCGCTCGTGCTCCCTGAGTACTACGAGGCCTT CAACAGGCTGCTTGGTAGGAGGACACCCCAGAGAGCACCTCCAATCCTGT TCTTTCTAAAAAGAGGAAACTTCCAATAACCACACTTTTCCAATGGGAAA AATATGCCCCAGTGGGTGAGCTCTCCATGCGGGAGGACTCTGAAGTGATC ACTCATGAGGGACACTTAGGAGTCAACAGAGGATTAGGTAGACTTGATAA AGGTCGGTGCTTGGGATAAGAAAGCTTGGTTTTGGGCCAGGCGCTGTGGC TCCCGCCTGAGATCCCAGCACGTTGGGAGGCTGAGGCAAGAGA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00639.hp2 others(18): Show HG00099.hp2 HG00140.hp1 HG00639.hp2 HG01106.hp2 HG01255.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG02055.hp1 HG02165.hp1 HG02602.hp2 HG02698.hp2 HG02895.hp1 HG02976.hp1 HG03017.hp1 HG03239.hp2 HG03654.hp1 NA18964.hp2 NA18987.hp1 NA19066.hp1 NA19084.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0002c0006 a0003c0012 a0002c0004 a0002c0006 a0003c0012	a0002c0004t0002 a0002c0004t0005 a0002c0004t0014 others(2): Show a0002c0004t0002 a0002c0004t0005 a0002c0004t0014 a0002c0006t0002 a0003c0012t0001	a0002c0004t0002g0008 a0002c0004t0002g0044 a0002c0004t0002g0185 others(13): Show a0002c0004t0002g0008 a0002c0004t0002g0044 a0002c0004t0002g0185 a0002c0004t0002g0186 a0002c0004t0002g0189 a0002c0004t0005g0008 a0002c0004t0005g0042 a0002c0004t0005g0043 a0002c0004t0005g0167 a0002c0004t0005g0181 a0002c0004t0005g0182 a0002c0004t0005g0183 a0002c0004t0005g0184 a0002c0004t0014g0187 a0002c0006t0002g0008 a0003c0012t0001g0142	21	344	0.0611	-1392	c.982 others(16): Show c.982+443_1201+442del		SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPTBN5_chr15_41843146_41899053	41870269	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG01361.hp2 HG00099.hp1 HG01361.hp2	a0034 a0034	a0034c0136 a0034c0137 a0034c0136 a0034c0137	a0034c0136t0002 a0034c0137t0002 a0034c0136t0002 a0034c0137t0002	a0034c0136t0002g0232 a0034c0137t0002g0226 a0034c0136t0002g0232 a0034c0137t0002g0226	2	396	0.0051	0	c.564 others(4): Show c.5647C>T	p.Arg others(5): Show p.Arg1883*	SPTBN5	ENSG00000137877.10	transcript	ENST00000320955.8	protein_coding	31/68	5851/11699	5647/11025	1883/3674			chr15	TogoVar

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Search Results (Total: 299 hits)