Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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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
OR6Y1_chr1_158539550_158559405	158546972	CATGATTG others(4974): Show CATGATTGTGTATACACACACACACACATGCACACACACACAGAGGAGAG CAGTGTTACAGTACTGGAGATTGGGGGATAACCAAAGACAAGACTGAGGG GGAAAGTGTGTAGTGATCATCTCTCAGTTCAAGCCTGAAAGGAATCTATA CATTTTTTAACTACTGAAAGCCCCATTTCCCTGGGGCCCACTTCCTCTGC AATGTATGGTCTTTCTGAGGGCTGCCTTTACTTCATGGTTCCTCAGACAG TAAATGATGGGGTTGAGGAGTGGAACAATGACAGTGTAGAGAACAGATAC CACTTTGTTGGAATTGTAGGCATACATGAGTTTGGGACGGGCATAGGTGA AAAGTGTCATGGAATAGAAGAGAATTACGACGGTCAGGTGGGAGGCACAG GTGGAGAATGCCTTTTGGCGGCCCTGAGCAGAAGGGATCCTGAGGATGGT GGCAAGGATAGCAGCGTAGGATGCCACCACAACACAAAGAGGAATAGCAA TGACCATGAGGGCCAAGAAGAAGTCCACCATCTCAGCCTGTGAGGCATCC TCACAGGAGACGTTAAGGAGTGGAGAGATATCACAAAAGTAGTGATTGAT CTGAGGCATGCCACAGTAGTGAAGTTGTGCTATAAAAACCATCTTAATCA TGGCAGTCATGAGTCCACAGAACCAGCATCCTCCAGCCAGTGTGCCACAG AGCTGGTTGGTCATGATGACTGGGTAGCGTAGTGGATTACAAATGGCTAC ATAGCGGTCAAAGGCCATGATAGCAAGAAGGATGTACTCAGTGCAGACAA AGGTCACAAAAAAGTAAAGTTGAGTCATGCAGCCATTGAAGGAAATACTC TTGTCATGACTGAGGAAGTCAACAAGCATCTTGGGGCTGATGACTGTGAC ATACCACATCTCCAGGAAGGAGAGGTGGCTCAAGAAGAAGTACATGGGCT TATGCAGCTGCCCATCACTGTGGATAGCTAAGATGATAAGAAGATTCTCC AGCAGTGTCAGCAGATAGGTTGCCAGGAAAATGGAGAAAAAGAGAAGCTG GAAGGCTGGTCGTGTTGGAAACCCCAGAAGAATGAAACGTGTTGTCACTG TATGATTATCTACTTCCAGAATTATGGTGGTCATGACTGGCTGTGGGCAC AGACAAAGTCAGTTCCTTCCATGACACAAGCACTAGTCTATGGTTATTTG TATTGATAGAGCCCACCACCAGCAAATTTATCACAATAGGAGGTTTCTGC TTTTTTATCTTACTGCCTCTTGAATTATGAAGAGAACCAAAGCTTTTGAG AAAAGATGGAATTTAGGGAGCTTATATTTTAACTTGTTTTCAGATTTTCT CAAGAGCAGTAACTTGTCCAAGGTCATACAAAATAGAGTTTATAACTTTC TAAATCCCAGTTCTGTGCTTTACCAATATATCACTTTTGGGCACATAAAT GGTCTCCAGACCACCCTTTCACTACAGGCAAAACATCCCCATCTGCTGAA TATGGAGAAGAGAAAGAAGGCCCAACTACCCATTCTCTAGGGGCAATTTG GGTGACTCTGGAGTGGTTGCATGACCCCACTTATCTGTAAAATGGAGAGA ACGTTCTTGCTTGTGTCTAACAATGTGCTTAAGCTTGAATGAAGCAATAG TTGAGCATACCCACAGGATTAACAGCAAAATCAGGTTTGATGCAATTATT CACCAGCTTTTCAGAGAACAAAATTGAATGGATAACATGAAGGGTAATAG TTTCTTCAATACAATCCATTGTATAAAGTGCTTGCTTAGGAGTTTGACAA AAGTGCATTCAAATCCAACTTTTGTCTTTGTATAGCTAAGTGAGAGTACC ACATAATCTTTTAGAATATTAGTTACTTTATTTCTAAAATGGGGATAATA CAATGGGGTTCACATTTTGTGAACATCAAATGGGATTTAGAGTTTAAATT CAGTTCCTATGATATTTGCTGTGACCTTTCCAGGCTACTTTACTTACCCC ACATACATAGCTCCTCCTCCTTTTAAAAAAACACACACTCCACCCCACAC AAAGTTTCCCCCACCCCAACTTCAACCCCTGCCAAAAACAGCAAAAAACT GGTGCAAACAGCAGCCATTGTTAATGAAAAAAGGGAGAGGACCGTGGGAC TTTTCCAAGGGTAATAAATTTAAAAACTGTAATCTGTTGGGAGTAATATC AGAGAAAACAAGCAAGAATTCTATTAGTGACTCTTCTGCATTTCTGTTCA TTAATTTAGCAAAATGTGTGACCTCTTTTTGTGTTAGGCTGATAATCATT CCCAAACCCATTGATACTAAACACCTTCCCATTTCAAGTCTTGCTCTGTG TCCTATTGCTTCAATTCTCTTTTCTGCTCTTCTCCAGAGCCACAGTCACT CTTGATCCCCATTTCTCAACAGCTCTATTTTATGGCATAAATATGTAGGA CAACTAGGGGATGGTTTTTTTTTTTTTTTAAGGAATGATCATGAGGTTGC AGAGCCAGAAAACTACTGCCCATACTATCCATTTCCTCTTCCCACTTAGA TTTCAGCTTTAGATTCCTGAAAGAAAGGCAGAATAGAAAGGCAGGATTAT TCCTTCTGAGAGAGGGAAATGGACACAGATAACCCAGAAAAGGCAAAGAA TATATAACAGTGTAAATGCAAATAATTTTCTTTTCTGTTGGAATATAGTT CCTGAGAAACACATGCACAAACACAAACACACACACAGTCAACACAAAAC TTGTCCTTGCTCATTGCAGCTTGGTATTCACTAGGCAGTGTGAGAGTGGG ACTTACAAGCAAGGCAAGGTTTATGAATCCTCCTTATCTTTTTCTTCATC CTGATTTAAAAAAATATCTTTGAGTCCAAAAATTCAAACCAACTTAAAAT CTATTTGTGAAGAGTGTAGGCCAGTCTCCATCTTGCTCTCTCTTACTATA TCACCACCATTTTCAATGAATTGATGAAATGAACATGTTTCTAGCTATTG AGGGTAGTATTACTGTTTGGGAGGCACTTTCTTGGTCCATAGTGATAGGA TACCAGTCTCCAGAGCCATGTCCTTGGGCTTAATCTTTGTGTCTATTTTT TAAAAATATTCTGGAAAACTACAGGCAAGACATTATACCCTAATGTCCTC TTTTCTTGGAATCACCCACAGTGTCCTGTAGAAGATGCCTAGCCTAAAAA GCATGGTTAGAATAATTCTACTAATTAATGTAACATATTCTCCATTCCTT TGCAATAGATATTGTCATTCTTGGGTAGCTGCTTCAGACATGAAGCTGGA AATAAAAACATCTAATTTAATTTTAAGAATAAGAATAAGTAAATAAAGTG GGGATATTTTCACAGAACTATGCATTCATTCATTCTTCTTCTAATTCCAG CAGAGTCCAGATGAAGCTCCACAAAGTAAAAATACAAGGAAATAAAAAGG AAAGTGAGTATACAGTATATATAAAGAACATCTGATTAAGCAGCTTTATC ATTTGAGCATGGAATTTAGCTTTGAGGTCCCTAGCAGTCAAGCAGAAGAG GAAAACAATTCAAAGCACAATATGCTGACATTCAAGTTTCAAAATTATTC ACACATATGTATATATAGAATTATATTTTGATAAGTGTTAAAGTTAATGT ATAAAGAGGTAGAGTGCTTTATCAACAGGCACATGCATTGTAGATATAGT AAGGTGTCTAGATTCCTAATTTCTAGGGCTAGATTGTCTGAGTCACATCC CAGTGCCTTCTCAGACTGTTTAGACAGTCCATTGGGCAGGCTTGTGAGGA AGAGAGCAAGGTTCACATAGTTAACAGCCTTCCCTCCAGTGGAAGTTTTA TAGCAACTGGATTCTGAGGAGGCTATGCTGAATATATGGAATCATCTTTA CTGCCAGATGATAACTCACATTTGTGTATGTGAAAGCACATTCACATCAT TCTATCTGATGTTCACCATCATGGAATTAGCACCAATGTCACAGTGCTGA CTTGACCCAAAGATATTAAATGTCTAGCTTAATGGTACACAGCTAAATTG CTTAATGGCAGAATTGAAATTAAACAGCAAATTTATTTTTTATAATCCAC TGATTTTTGTGTATGAGTATGTAGAGGATGATCTATGAATTGGGTGAGGC TTTTTTTTTTTCTTCTGAGAATTAAATTGTACCTTTAAAAATAGTTTTAA TGGCACTCTATGCAAGGAATGAAAATTTAAGGAGAATCAAAGGGCCAGGC TGAGAGCCAAGAGTCAGTTGAAGGTTCCGGTACTCTGAATCTCAAACATA TTACCTAGCAGCAGGTTAAACCATCTCACTTTTTCTTGTAGCCAACTCTC AGTCACACATTGTGGACTTGTCTCATGAAATAATAGCATTTTAAAATCAG CGGTATTTTAATTCAAAGTTCTTTTTTTTCCTCAGATAAGGAAATCCCAG AGTGATTTAAGTGATTTTCTCTAAGTTTAAACAACTATATAGTGGCAGAG TAGCAATTTATTAATGATTACATTTTAGTCCCTATCAAGCTTTAACCCCC AATTGTCTTATACAATTCATTCAATTTAATTCCTTCTGTTATCTTACACA CTTCATTCAAATTATTTACTTATCTGACCCGATTCTCAAGAAGGACAAAT CATCTCAAGTTTTAGCCTGATTTAAATAGAATCATAAAAGTTAGTGCGAG TCTTACAACTATGATTTTCTCAAAAAATATATATATTTTAGCTTTCACAA TTGCTTGTCCATTGTAGTGATTACACACACACACACACACACACAAACAC ACATTGCTAAACAAGTAGAATGAGATCCTTCAGCTCTAGAAACACAGGAT TGTAGGACTGCAAAGAACCTGAGAGGTAATATGATTTAGCTCCCTATCAC ATTTTGTGAATCACCAATGTATAGACACAAGTATTCACCCAGACTTTGCC TGATTTTTTCCAGGAATGGAAATCCAGTATCT	C C	start_lost others(2): Show start_lost conservative_inframe_deletion splice_region_variant	HIGH	HG02451.hp1 HG03041.hp2 HG03098.hp1 others(3): Show HG02451.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0016 a0000c0000t0048 a0000c0000t0016 a0000c0000t0048	a0000c0000t0016g0017 a0000c0000t0016g0097 a0000c0000t0048g0098 a0000c0000t0016g0017 a0000c0000t0016g0097 a0000c0000t0048g0098	6	430	0.0140	-4981	c.-14 others(15): Show c.-1433+2313_*155del	p.Met others(11): Show p.Met1_Ter326del	OR6Y1	ENSG00000197532.3	transcript	ENST00000641622.1	protein_coding	2/2	2705/5128	1/978	1/325			chr1	TogoVar
OR7G3_chr19_9121012_9131950	9126022	G G	GATGGT GATGGT	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.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 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19059.hp1 NA19064.hp1 NA19074.hp2 NA19075.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0000 a0002 a0003 others(1): Show a0000 a0002 a0003 a0005	a0000c0002 a0000c0007 a0000c0014 others(3): Show a0000c0002 a0000c0007 a0000c0014 a0002c0003 a0003c0004 a0005c0006	a0000c0002t0000 a0000c0007t0000 a0000c0014t0000 others(3): Show a0000c0002t0000 a0000c0007t0000 a0000c0014t0000 a0002c0003t0000 a0003c0004t0000 a0005c0006t0000	a0000c0002t0000g0000 a0000c0007t0000g0000 a0000c0014t0000g0000 others(3): Show a0000c0002t0000g0000 a0000c0007t0000g0000 a0000c0014t0000g0000 a0002c0003t0000g0000 a0003c0004t0000g0000 a0005c0006t0000g0000	177	402	0.4403	5	c.924 others(12): Show c.924_928dupACCAT	p.Ser others(5): Show p.Ser310fs	OR7G3	ENSG00000170920.2	transcript	ENST00000305444.2	protein_coding	1/1	928/939	928/939	310/312			chr19	TogoVar
OR7G3_chr19_9121012_9131950	9126587	G G	A A	stop_gained stop_gained	HIGH	HG02109.hp1 HG02451.hp1 HG03130.hp1 others(2): Show HG02109.hp1 HG02451.hp1 HG03130.hp1 HG03579.hp2 NA19240.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0000 a0004c0005t0000	a0004c0005t0000g0000 a0004c0005t0000g0000	5	402	0.0124	0	c.364 others(3): Show c.364C>T	p.Arg others(4): Show p.Arg122*	OR7G3	ENSG00000170920.2	transcript	ENST00000305444.2	protein_coding	1/1	364/939	364/939	122/312			chr19	TogoVar
OR8G1_chr11_124236095_124259364	124250452	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0004c0006 a0006c0010	a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(20): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0002t0027 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0003t0002 a0001c0003t0026 a0001c0003t0038 a0001c0003t0039 a0001c0003t0040 a0001c0012t0003 a0004c0006t0003 a0004c0006t0014 a0004c0006t0036 a0004c0006t0041 a0006c0010t0002	a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(42): Show a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0047 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0065 a0001c0002t0005g0005 a0001c0002t0005g0059 a0001c0002t0007g0009 a0001c0002t0012g0013 a0001c0002t0018g0029 a0001c0002t0018g0045 a0001c0002t0019g0030 a0001c0002t0019g0067 a0001c0002t0020g0022 a0001c0002t0025g0058 a0001c0002t0025g0060 a0001c0002t0027g0066 a0001c0002t0034g0046 a0001c0002t0035g0048 a0001c0002t0037g0068 a0001c0003t0002g0002 a0001c0003t0002g0016 a0001c0003t0002g0021 a0001c0003t0002g0044 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0057 a0001c0003t0026g0002 a0001c0003t0038g0051 a0001c0003t0039g0016 a0001c0003t0040g0002 a0001c0012t0003g0064 a0004c0006t0003g0056 a0004c0006t0014g0014 a0004c0006t0036g0014 a0004c0006t0041g0055 a0006c0010t0002g0002	217	430	0.5047	0	c.777 others(3): Show c.777C>G	p.Tyr others(4): Show p.Tyr259*	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding	3/3	1143/5055	777/936	259/311			chr11	TogoVar
OR8G1_chr11_124236095_124259364	124250538	TGATTTAT others(844): Show TGATTTATAGCCTGAGGAATAAAGATGTCCATGTTTCCCTGAAGAAAATG CTACAGAGAAGAACATTATTGTAAACAGTAATAATAAGAAGATGATATAT TAATCCTAAGTAGTGGACTGTTACATTGTATGAATGGATGTCTTTCACTT TAATGCATCTGTCAATAATTTTTACCATTTGGTGAGATTATATTACCATT ATTTTTTCATTTCATGACCCTTTGATGTCATTTCCCATGTGGGGTTTTAA CTCATATGTATCAATGAGACACAAATTAATATAAATACTAAAATCGACAT GAGTACATAGACTCATTAATGCCAGCCCCATGTTCTTACCTCTTTTCTTT TACACAATTGATAAAATTCAGCTCAGTTCTCAACCATAATGAAAATACCA TCTTCCAAAAGTGATACCAATCTCCCTTATTCTGTCTTTTCAATAACAAC ATAAATTATTGCAATATGATAGCTGTAATTTTAGCCTGCAGCAATCTCTT TTCTGCCTTATTCATCTATTTACCTCATTTGTCTGCTGTATTTCTTCTTT AGCAACATAATCAAAATTTCAGAATATAAGTTACATATCCGTGTATGTGT TATAATTGTGCAATCCAATATATCATCTGCTTTGCATTTTCCTATTCTAG TTTGTACTTGCCTTCAACCTACACTGGACTTCAGTCTTCATGAAGATTCC CCCGTACATGTGGTTTATTGCCACGTCTCCAGCGTCTATCATAGTTCTTG CCACCTTAGGTCCTTGAAAGCTTTTTTATTATTTCCTCATTTAAGCTAAG TATAGGAAAGCCATATGTATGTCATACTTACTTTATCTATTTATCTCTCG AA	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0004c0006 a0006c0010	a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(20): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0002t0027 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0003t0002 a0001c0003t0026 a0001c0003t0038 a0001c0003t0039 a0001c0003t0040 a0001c0012t0003 a0004c0006t0003 a0004c0006t0014 a0004c0006t0036 a0004c0006t0041 a0006c0010t0002	a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(42): Show a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0047 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0065 a0001c0002t0005g0005 a0001c0002t0005g0059 a0001c0002t0007g0009 a0001c0002t0012g0013 a0001c0002t0018g0029 a0001c0002t0018g0045 a0001c0002t0019g0030 a0001c0002t0019g0067 a0001c0002t0020g0022 a0001c0002t0025g0058 a0001c0002t0025g0060 a0001c0002t0027g0066 a0001c0002t0034g0046 a0001c0002t0035g0048 a0001c0002t0037g0068 a0001c0003t0002g0002 a0001c0003t0002g0016 a0001c0003t0002g0021 a0001c0003t0002g0044 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0057 a0001c0003t0026g0002 a0001c0003t0038g0051 a0001c0003t0039g0016 a0001c0003t0040g0002 a0001c0012t0003g0064 a0004c0006t0003g0056 a0004c0006t0014g0014 a0004c0006t0036g0014 a0004c0006t0041g0055 a0006c0010t0002g0002	217	430	0.5047	-851	c.866 others(8): Show c.866_*780del	p.Ile others(5): Show p.Ile289fs	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding	3/3	1232/5055	866/936	289/311		INFO_REALIGN_3_PRIME	chr11	TogoVar
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(7603): 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 CCAAGTTAAATTACGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAA ATGTTTTGGGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAAT TTACTGATTTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGT GATAGCATTTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACT TCATCTCTCTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTA CTTTCATTATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAG CTAATAGTTGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTT TTAATTAGAGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGC TGAATTTATGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTT TTTATTTCCTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTA GAAATTTAATTTCTGATGTGTTAAATATGTACACACACAAACAGACACAC AGACATGCATTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAAC TTATCACCATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACA TACATACATACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTA TTATCATAATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAG AAATATACAATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATG TAGACTATATATACACAGACATATGACTATATCAATAATATGATGATACA TCAATAAATAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTC GTGTATTTCTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTG AAAGACATTCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATT ATCTTAATCTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATA TAATTTGACTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCA GTTTGGACATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCA TGTGTTAAACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATT TTTCGCTGTCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATT TCTTGGTGTTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATG TTAATGCTTTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAG TATTTTCCCCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTT TACTGGTACACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCC CCAGAAGTCGCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCT GTTTTCTAGAATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATT CTGTCTTCAGCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTC ATTTCAGGTATTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAA AAATTGCTATAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATC AATATATTAGAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTG TACCTTGATAAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTAT TATTTTTTCAGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTAC ATGTGCACAACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGT TTTATCTCCAAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATT TTTTTCCATTTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTT TGTATCAAATGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGACGG TGTAAACTCAATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACA TATTTGGGGAATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACAC TATATTTGGGGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTC TTCCCTACCACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATT TTGCTTTTTCAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAAC AAAGAAATAACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAG TGACAGAAATTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCA AGATACTTTCTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAG GCAGCCACCATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAG AGGAGACAGAGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACT TTTGCGTCTCTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATC TAATCTTAATTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGG GAGTTAGAGCTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAG CAGATGCATTGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTA TGGCCACAGATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCA AGGAACTATAAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGA CACAGATGTTTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCA TGTCTTAAATTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTT TGGAAGATATGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTT AAAAATAAATCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATT CAAATAAATAAATAAATAAATAAATAACAAGAACAACAATATGAACAAGT AAAATATGAATAAATAAATAGCACTATTAATAATAAAATTATCAATCAAT AAATAGCATTCCAAAAATAAGAACATTAGAGCAATAATGTCATGCTAAGT CAGAGCTATAGATCTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTA TCTCTAGCCTGCTTTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATA ATTTTACTTGCATCATTCTCCTAAATAAGATCCTATGGGACAGAGGGGAC AGAGTGACTGTCAAAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGA GAGGAAATAGGAACACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCA AAATTAAGGTCAAGATAAGCATTTTAAAAATAAAGTAGCATAGAATATAA TGAACTTTATAACATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTT TCTATAATTTTATTTCTGTTATATATGTATGCGTTATATAAAATATATTT CTTATTGGTATGAGATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATT TATTAGGCTGCTTGGAAAAGTTGGACACTTAATTGACTAGATTGCAATTT ACATTAAAACTGTCCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATC AAAACCAAGTCATCAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAA CATTAATTGTGAACCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATT TAATTATTAATTTCCCATTACCAAGCATCTAGAAGGGGCTACATTAAGAC ATTAATTAAAATTTCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAA ATAAAATATATGAAAACAGATGTTTGCCATATATGTGATATAGGTAAATG AATTATGAATACAATGTTTCTAGAACACAAAGATGAAAGATGGTAACACA GCATGAAAACTAGAAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACT GCAGCTCTCCATTCGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGC ACATATAAAGCCTGGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGT AAAATAAGGTTTTTAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAA GAGATGTTGCTGGAATTTTGATGGAAAACATCATGGACTATATTGTAAAA GGTCATGTATAATATTTTTTCAAATATAATGTACATTCTACCTTTGAGAT GAGATAAAGTGGTACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCA AACAGTGCAGCCTTACCTGAAATCTCCAGACATGAAAACTAAATTTCCTA TCAAATTGTTGCTTAATCATCTCAAAACAAAATTTATGTATTTGTATGAA CACCAAAAAGTCTTTAAAAACTTTGATGATGCACATATTTCATGTAACAA TAAGCAGCAGCAGCAGTAATAATAAATATTATCTGTTGTTATCTTCTTCA TAGAAAGTGGTAGAAACATACATGCACACATACTCAAAAATATTCATTTT TGATTTTCATGTCCATGATTTATAAAGAACATCTAAATTTTCCTGATATA TTCCCCTGCTGTTTCCTGAAATAATAAAAATATATCAATTAGGTTTCTTT TGTTAATTTATTATTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAG GCACTTTTCTCTGTATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTA CCTATACCTATCTACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACT TTTTTGTATTTATTTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTAT ATTACCTTGACCACCCATACATACTATGTATGTAGAAGTCAGCATAATCA CTTTTAAAATTCATTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTAT ACATACGTGTAACTTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAAT ATTATTTTCTAATTTAAAATATATTTATACCTGTTATGTGCAGGAGATAA CTTTCTTTTGATAGTAACAATGATTATTTCAGATAGAAAATAACACCTTT TATAGATTAGGAAGCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGT TTATGTAACTAGAGAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTAT CTAGAGTTCTTTCCACTGTATCCTGCTTGACTTAAATACCTACAAAATGC CATTTTTCAATAGTTACCTGCCATTAAAATGCAACTGTTTATCACAAAAA TGCTAAGTTTGTCAAAATTCACTATATTTACTTCCTCATAGCCATAATGG CAATTTACATTCACTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAA AAAGAATGAAATCATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCA TTATCTTAGTGAAGTAACTCAGAAAGTAAAACACCACATGTTCTCACTTA TAAGCGGGAGCTAAATAATATGTACACATGGACATAGTATGTAAAGTACC TTTATAAATATAATAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAA TAACCTCTTTTACCTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGT GAGCTAATAATTTTAATACTAAATTAGCACTTACATATTAACAATAAAAT TGATTTTAAGGATATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTG ATTAAACTCTCCTCTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGA TCAATTGCACCCAGGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGT CAGGAGTTGAAGATGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTT CACAGTAGTAGGCAATCTGGGTTTGATCCTACTCATTAGAACAGATGAAA AACTCAACACACCAATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGAT TTCTGTTACTCTTCTGTCATTACACCCAAAATGCTTGGGAATTTCTTATA TAAACAAAATAGTATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTT TCCTGGCCTTCATGACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTAT GACCGATATGTGGCCATTTGTAACCCTCTGATGTATATGGTGGTAATGTC CCCAGGAATCTGCATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCT TGGTTGCACTG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01109.hp2 HG02145.hp1 HG02451.hp1 others(2): Show HG01109.hp2 HG02145.hp1 HG02451.hp1 HG02486.hp2 NA20129.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0000 a0004c0009t0000	a0004c0009t0000g0000 a0004c0009t0000g0000	5	364	0.0137	7610	c.590 others(7617): 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 AATTACGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAAATGTTTTG GGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAATTTACTGAT TTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGTGATAGCAT TTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACTTCATCTCT CTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTACTTTCATT ATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAGCTAATAGT TGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTTTTAATTAG AGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGCTGAATTTA TGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTTTTTATTTC CTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAGAAATTTA ATTTCTGATGTGTTAAATATGTACACACACAAACAGACACACAGACATGC ATTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACTTATCACC ATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACATACATACA TACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTATTATCATA ATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGAAATATAC AATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGTAGACTAT ATATACACAGACATATGACTATATCAATAATATGATGATACATCAATAAA TAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCGTGTATTT CTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGAAAGACAT TCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTATCTTAAT CTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATATAATTTGA CTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAGTTTGGAC ATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCATGTGTTAA ACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATTTTTCGCTG TCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTTCTTGGTG TTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGTTAATGCT TTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGTATTTTCC CCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTTACTGGTA CACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCCCAGAAGT CGCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTGTTTTCTA GAATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTCTGTCTTC AGCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCATTTCAGG TATTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAAAATTGCT ATAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCAATATATT AGAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGTACCTTGA TAAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATTATTTTTT CAGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACATGTGCAC AACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTTTTATCTC CAAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTTTTTTCCA TTTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTTGTATCAA ATGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGACGGTGTAAACT CAATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACATATTTGGG GAATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACTATATTTG GGGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCTTCCCTAC CACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTTTGCTTTT TCAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACAAAGAAAT AACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGTGACAGAA ATTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAAGATACTT TCTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGGCAGCCAC CATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGAGGAGACA GAGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTTTTGCGTC TCTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCTAATCTTA ATTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGGAGTTAGA GCTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGCAGATGCA TTGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTATGGCCACA GATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAAGGAACTA TAAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGACACAGATG TTTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCATGTCTTAA ATTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTTGGAAGAT ATGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTAAAAATAA ATCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTCAAATAAA TAAATAAATAAATAAATAACAAGAACAACAATATGAACAAGTAAAATATG AATAAATAAATAGCACTATTAATAATAAAATTATCAATCAATAAATAGCA TTCCAAAAATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAGCTA TAGATCTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCTAGC CTGCTTTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTTACT TGCATCATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGTGAC TGTCAAAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGAAAT AGGAACACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATTAAG GTCAAGATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAACTTT ATAACATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTATAAT TTTATTTCTGTTATATATGTATGCGTTATATAAAATATATTTCTTATTGG TATGAGATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTAGGC TGCTTGGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATTAAA ACTGTCCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAACCAA GTCATCAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTAATT GTGAACCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATTATT AATTTCCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAATTA AAATTTCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAAATA TATGAAAACAGATGTTTGCCATATATGTGATATAGGTAAATGAATTATGA ATACAATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATGAAA ACTAGAAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGCTCT CCATTCGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATATAA AGCCTGGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAATAAG GTTTTTAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGATGTT GCTGGAATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCATGT ATAATATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGATAAA GTGGTACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAGTGC AGCCTTACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAATTG TTGCTTAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCAAAA AGTCTTTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGCAGC AGCAGCAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAAAGT GGTAGAAACATACATGCACACATACTCAAAAATATTCATTTTTGATTTTC ATGTCCATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCCCTG CTGTTTCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTAATT TATTATTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGGCACTTTT CTCTGTATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTATACC TATCTACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTTGTA TTTATTTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTACCTT GACCACCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTTAAA ATTCATTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATACGT GTAACTTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTATTTT CTAATTTAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTCTTT TGATAGTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAGATT AGGAAGCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATGTAA CTAGAGAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGAGTT CTTTCCACTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTTTTC AATAGTTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTAAGT TTGTCAAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAATTTAC ATTCACTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGAATG AAATCATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATCTTA GTGAAGTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGCGGG AGCTAAATAATATGTACACATGGACATAGTATGTAAAGTACCTTTATAAA TATAATAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACCTCT TTTACCTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCTAAT AATTTTAATACTAAATTAGCACTTACATATTAACAATAAAATTGATTTTA AGGATATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAAACT CTCCTCTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAATTGC ACCCAGGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGAGTT GAAGATGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAGTAG TAGGCAATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTCAAC ACACCAATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTGTTA CTCTTCTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAACAAA ATAGTATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTGGCC TTCATGACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCGATA TGTGGCCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAGGAA TCTGCATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTTGCA CTGTTTCACACCATCCTCACCTTCCGCCTCTCCTATTGCCACTCCAACAT TGTCAACCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCT CAGACACTCGCTTCAAACAGCT	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 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 CCAAGTTAAATTATGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAA ATGTTTTGGGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAAT TTACTGATTTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGT GATAGCATTTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACT TCATCTCTCTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTA CTTTCATTATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAG CTAATAGTTGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTT TTAATTAGAATATTAAGTCCATTCATTTTTAACACAATTACTGATATGGC TGAATTTATGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTT TTATTTCCTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAG AAATTTAATTTCTGATGTGTTAAATATGTACACACACAAACAGACACACA GACATGCATTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACT TATCACCATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACAT ACATACATACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTAT TATCATAATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGA AATATACAATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGT AGACTATATATACACAGACATATGACTATATCAATAATATGATGATACAT CAATAAATAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCG TGTATTTCTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGA AAGACATTCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTA TCTTAATCTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATAT AATTTGACTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAG TTTGGACATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCAT GTGTTAAACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATTT TTCGCTGTCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTT CTTGGTGTTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGT TAATGCTTTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGT ATTTTCCCCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTT ACTGGTACACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCC CAGAAGTCGCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTG TTTTCTAGAATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTC TGTCTTCAGCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCA TTTCAGGTATTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAA AATTGCTATAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCA ATATATTAGAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGT ACCTTGATAAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATT ATTTTTTCAGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACA TGTGCACAACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTT TTATCTCCAAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTT TTTTCCATTTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTT GTATCAAATGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGATGGT 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 ATATATGAAAACAGATGTTTGCCATATATGTGACATAGGTAAATGAATTA TGTATACAATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATG 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 disruptive_inframe_insertion	HIGH	HG00639.hp1 HG00738.hp2 HG00741.hp1 others(18): Show HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01243.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG02055.hp1 HG02258.hp2 HG02451.hp2 HG02647.hp1 HG02723.hp1 HG02886.hp1 HG02970.hp1 HG03225.hp1 HG03516.hp1 HG03710.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0000 a0002c0005t0000	a0002c0005t0000g0000 a0002c0005t0000g0000	21	364	0.0577	7605	c.590 others(7612): 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 AATTATGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAAATGTTTTG GGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAATTTACTGAT TTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGTGATAGCAT TTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACTTCATCTCT CTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTACTTTCATT ATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAGCTAATAGT TGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTTTTAATTAG AATATTAAGTCCATTCATTTTTAACACAATTACTGATATGGCTGAATTTA TGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTTTTATTTCC TTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAGAAATTTAA TTTCTGATGTGTTAAATATGTACACACACAAACAGACACACAGACATGCA TTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACTTATCACCA TATACTTCAGATTAATACTAGCATAGCACTATGTAAATACATACATACAT ACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTATTATCATAA TTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGAAATATACA ATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGTAGACTATA TATACACAGACATATGACTATATCAATAATATGATGATACATCAATAAAT AAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCGTGTATTTC TGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGAAAGACATT CTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTATCTTAATC TCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATATAATTTGAC TGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAGTTTGGACA TGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCATGTGTTAAA CTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATTTTTCGCTGT CTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTTCTTGGTGT TAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGTTAATGCTT TTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGTATTTTCCC CTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTTACTGGTAC ACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCCCAGAAGTC GCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTGTTTTCTAG AATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTCTGTCTTCA GCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCATTTCAGGT ATTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAAAATTGCTA TAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCAATATATTA GAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGTACCTTGAT AAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATTATTTTTTC AGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACATGTGCACA ACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTTTTATCTCC AAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTTTTTTCCAT TTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTTGTATCAAA TGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGATGGTGTAAACTC AATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACATATTTGGGG AATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACTATATTTGG GGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCTTCCCTACC ACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTTTGCTTTTT CAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACAAAGAAATA ACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGTGACAGAAA TTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAAGATACTTT CTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGGCAGCCACC ATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGAGGAGACAG AGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTTTTGCGTCT CTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCTAATCTTAA TTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGGAGTTAGAG CTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGCAGATGCAT TGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTATGGCCACAG ATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAAGGAACTAT AAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGACACAGATGT TTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCATGTCTTAAA TTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTTGGAAGATA TGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTAAAAATAAA TCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTCAAATAAAT AAATAAATAAATAACAAGAACAACAATATGAACAAGTAAAATATGAATAA ATAAATAGCACTATTAATAATAAAATTATCAATCAATAAATAGCATTCCA AAAATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAGCTATAGAT CTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCTAGCCTGCT TTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTTACTTGCAT CATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGTGACTGTCA AAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGAAATAGGAA CACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATTAAGGTCAA GATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAACTTTATAAC ATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTATAATTTTAT TTCTGTTATATATGTATGCGTTATATAAAATATATTTCTTATTGGTATGA GATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTAGGCTGCTT GGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATTAAAACTGT CCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAACCAAGTCAT CAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTAATTGTGAA CCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATTATTAATTT CCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAATTAAAATT TCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAAATATATGA AAACAGATGTTTGCCATATATGTGACATAGGTAAATGAATTATGTATACA ATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATGAAAACTAG AAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGCTCTCCATT CGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATATAAAGCCT GGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAATAAGGTTTT TAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGATGTTGCTGG AATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCATGTATAAT ATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGATAAAGTGGT ACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAGTGCAGCCT TACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAATTGTTGCT TAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCAAAAAGTCT TTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGCAGCAGCAG CAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAAAGTGGTAG AAACATACATGCACACATACTCAAAAATATTCATTTTTGATTTTCATGTC CATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCCCTGCTGTT TCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTAATTTATTA TTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACTTTTCTCTG TATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTATACCTATCT ACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTTGTATTTAT TTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTACCTTGACCA CCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTTAAAATTCA TTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATACGTGTAAC TTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTATTTTCTAAT TTAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTCTTTTGATA GTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAGATTAGGAA GCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATGTAACTAGA GAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGAGTTCTTTC CACTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTTTTCAATAG TTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTAAGTTTGTC AAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAATTTACATTCA CTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGAATGAAATC ATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATCTTAGTGAA GTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGCGGGAGCTA AATAATATGTACACATGGACATAGTATGTAAAGTACCTTTATAAATATAA TAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACCTCTTTTAC CTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCTAATAATTT TAATACTAAATTAGCACTTACATATTAACAATAAAATTGATTTTAAGGAT ATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAAACTCTCCT CTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAATTGCACCCA GGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGAGTTGAAGA TGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAGTAGTAGGC AATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTCAACACACC AATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTGTTACTCTT CTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAACAAAATAGT ATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTGGCCTTCAT GACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCGATATGTGG CCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAGGAATCTGC ATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTTGCACTGTT TCACACCATCCTCACCTTCCGCCTCTCCTATTGCCACTCCAACATTGTCA ACCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCAGAC ACTCGCTTCAAACAGCT	p.Leu others(7618): Show p.Leu197_Trp198insTrpIleLeuAlaCysAlaGlyIleThrPheIl eCysSerValLeuIleValPheValSerTyrMetPheIleIlePheAlaI leLeuArgMetSerSerAlaGluGlyArgArgLysAlaPheSerThrCys SerSerHisMetLeuAlaValThrIlePheTyrGlyThrLeuIlePheMe tTyrLeuGlnProSerSerSerHisSerLeuAspAlaAspLysMetAlaS erValPheTyrThrValIleIleProMetLeuAsnProLeuIleTyrSer LeuArgAsnLysAspValLysAspAlaLeuLysLysValIleIleAsnAr gAsnHisAlaPheIlePheLeuLysLeuArgLysTerValGlnTerThrL ysMetGlyIleProSerTerProGlyPheProProHisTerTerAsnTyr TrpAsnThrLeuLeuLeuIleGlyLysGlnTerArgSerValTyrTerLy sAsnTyrSerLeuHisPheCysAsnPhePheAspLeuLysProTyrPheI leCysArgLysTyrHisLysAsnLeuHisHisPheSerGlnGluLysCys IlePheLysMetTyrTyrLeuIleTerTerLeuTyrAsnTerValLeuPr oGlyIleGluLysMetLysAlaLeuTerMetProSerSerGlyLeuTerG luPhePheAsnAsnMetLeuArgLeuPheTyrSerIlePheLysIleLys PheAsnAsnIleTerLeuAsnTyrLeuGlnGlnCysLeuTyrIleGluVa lIlePheLeuProGlyGlyHisLeuSerIleLeuArgLeuIleIleAspP heHisAsnAspArgIleLeuTerArgAsnAlaIleAlaIleTerArgVal GluAlaArgCysAlaAlaLysTyrPheThrIleHisAsnMetAlaProHi sSerLysAsnTyrThrSerProAsnAspAsnSerAlaGluValGluArgA laGlyValLysTerPhePhePheSerSerArgValIleLeuTerIleHis TerAspGlnAlaGlyTerTerCysCysSerSerLeuPheTrpLeuTyrGl yPheLeuPheIleCysSerIleAsnTyrTerAspTerCysTerAsnProL ysLeuAsnTyrValPheThrPheIlePheCysGlnPheTerPheTerMet PheTrpGlySerPheValIleCysAlaTerIleSerSerTyrLeuIleTy rTerPhePheSerLeuLeuAlaLeuLeuAsnAlaLeuProPheLeuTerT erHisLeuMetThrLysSerLeuTyrPheSerAspAsnIleThrThrSer SerLeuLeuArgLeuLeuTerAlaTrpLysSerIleProSerPheTyrPh eHisTyrIleCysAspPheLysCysThrPheCysLeuLeuTerThrAlaA snSerTrpIlePheValPheValIleAsnSerGluTerLeuSerLeuLeu IleArgIleLeuSerProPheIlePheAsnThrIleThrAspMetAlaGl uPheMetSerPheMetLeuLeuIlePheTerIleValGlnPhePhePheI leSerLeuPheGluPheTerArgLeuCysTerLysIleLeuSerTerLys PheAsnPheTerCysValLysTyrValHisThrGlnThrAspThrGlnTh rCysIleSerAsnGlyCysSerLysAspPheAsnIleAspPheAsnLeuS erProTyrThrSerAspTerTyrTerHisSerThrMetTerIleHisThr TyrIleHisThrTyrAlaValSerThrTyrLysProGlnAspCysIleIl eIleIleGluTyrValCysAsnPheMetSerLeuGlyGlyHisLysLysT yrThrIleValCysHisLeuTyrLysLeuArgArgGluTyrLeuCysArg LeuTyrIleHisArgHisMetThrIleSerIleIleTerTerTyrIleAs nLysTerLysLysTerLeuThrTyrLeuProPheProValCysPheValT yrPheCysAspTerAsnTyrHisThrGluTerPheLeuIleLeuTerLys ThrPheLeuCysThrTyrTyrLysAlaAspLeuLeuAlaMetAsnTyrLe uAsnLeuIleTyrProGlyLeuTerValThrPheIleSerGluIleTerP heAspTrpIleTerTyrSerLeuTerThrThrValPheLeuTerGlnPhe GlyHisValIleProProHisSerIlePheSerLeuTerGluValMetCy sTerThrCysAspPheLeuTerAsnTerSerThrThrPheLysIlePheA rgCysLeuTrpHisSerIleLeuTerLeuSerLeuAlaTerArgPheLeu GlyValAsnLeuThrTerValTrpLeuSerProLeuAspProHisValAs nAlaPheLeuSerGlnIleGlyGluValPheSerAsnLeuPheLysTyrP heProLeuTyrLeuProSerPheLeuLeuGlyLeuProLeuIlePheThr GlyThrLeuAspMetAlaHisPheIleGlyThrThrPheTrpCysProAr gSerArgGlnAspPheLeuHisPheSerValIlePhePhePheSerValP heTerAsnArgGlnValLeuPheThrTyrPheGlnPheTyrGlnPheCys LeuGlnLeuTyrHisTyrSerPheTrpSerAsnGlnTyrIlePheHisPh eArgTyrCysIlePheIleSerLysTyrSerPhePheSerLysLysLysL euLeuTerGlyPheIleGlyGluIleAspGluIleTerIleTerSerIle TyrTerLysIleMetLeuHisLysCysPheLeuValLeuIleIleValPr oTerTerSerAspMetIleCysAlaIleTyrSerPheTerAsnTyrTyrP hePheSerIleProLeuLeuLeuLeuTyrPheLysPheTerGlyThrCys AlaGlnArgAlaGlyLeuIleHisMetTyrThrCysAlaMetTerPheTy rLeuGlnIleLeuTyrLeuValLeuTerLysIleTyrIleLysIlePheP heHisLeuValArgTyrTrpTerAlaAsnAspTrpIleProGlyPheVal SerAsnValLeuLeuAlaPheSerPheThrTyrPheTerLeuMetValTe rThrGlnLeuTerPheSerLeuProIleTerAsnLeuTerLysThrTyrL euGlyAsnLeuValHisLeuHisProTerIleAlaGluLysTyrThrIle PheGlyGluLysLysValValLeuTerLeuLeuSerThrProProLeuPr oTyrHisLeuProProThrLysProPheAlaLeuTerArgIleIleLeuL euPheGlnArgCysSerProIleGlnLeuArgLeuGlnTerLysThrLys LysTerGlnGlnGlnLysProGlnAsnLeuAspTrpValAlaTerValTh rGluIleTyrPheLeuThrValLeuGluThrArgSerProArgSerArgT yrPheLeuIleGlnLeuLeuValArgSerLeuPheLeuAlaCysArgGln ProProSerSerValCysSerHisAspLeuLeuPheValSerIleGluGl uThrGluLysLysLysLysLysArgGluSerGluTerAlaTyrThrPheA laSerLeuLeuIleArgAlaLeuThrProSerLeuIleThrLeuSerAsn LeuAsnPheLeuProLysLeuLeuSerLeuAsnIleIleThrLeuGlyVa lArgAlaSerIleTyrGluPheTerGluIleGlnPheSerSerTerGlnM etHisCysSerValIleSerIleThrIleMetPhePheSerCysTyrGly HisArgLeuAlaLysLysIleIleSerLysAlaIleLeuTerThrLysGl uLeuTerLysLeuSerAsnAsnArgTerGlnGlnProTerLysArgHisA rgCysPheMetSerIleSerLysSerLysProLysArgGluTyrHisVal LeuAsnTyrSerValIleAspTyrTrpGluPheGlnIleSerSerLeuGl uAspMetLeuTerLysPheLeuGlnGlyAsnPheTyrPheSerPheLysA snLysSerLysLeuTyrHisTerGluThrThrLysGlyLysGluPheLys TerIleAsnLysTerIleThrArgThrThrIleTerThrSerLysIleTe rIleAsnLysTerHisTyrTerTerTerAsnTyrGlnSerIleAsnSerI leProLysIleArgThrLeuGluGlnTerCysHisAlaLysSerGluLeu TerIlePheGlySerSerLysLeuGluAsnAspValAsnLeuSerLeuAl aCysPheGlyIleProTerValIleAsnTyrPhePheTerTerPheTyrL euHisHisSerProLysTerAspProMetGlyGlnArgGlyGlnSerAsp CysGlnAsnProIlePheCysCysCysProAsnProLeuGlyGluGluIl eGlyThrProPheThrGlnValSerSerAsnAsnMetPheGlnAsnTerG lyGlnAspLysHisPheLysAsnLysValAlaTerAsnIleMetAsnPhe IleThrPheTerMetAlaPheSerGluIleArgLeuMetPheSerIleIl eLeuPheLeuLeuTyrMetTyrAlaLeuTyrLysIleTyrPheLeuLeuV alTerAspGluLysGluSerLeuGlyIleProArgTerAsnLeuLeuGly CysLeuGluLysLeuAspThrTerLeuThrArgLeuGlnPheThrLeuLy sLeuSerPheLeuPheLeuProIleTerLysValSerThrSerLysProS erHisGlnTyrValIleTerCysValCysTyrLysTerArgThrLeuIle ValAsnGlnTerAsnLysTyrTerLysValLeuAlaLysIleTerLeuLe uIleSerHisTyrGlnAlaSerArgArgGlyTyrIleLysThrLeuIleL ysIleSerTrpArgProProMetAspSerAlaValTyrGlnAsnLysIle TyrGluAsnArgCysLeuProTyrMetTerHisArgTerMetAsnTyrVa lTyrAsnValSerArgThrGlnArgTerLysMetValThrGlnHisGluA snTerLysSerGlyLysProTerArgIleAsnSerPheHisCysSerSer ProPheAlaIleHisLeuValGluValSerValSerLysSerThrTyrLy sAlaTrpValThrCysLysGlyMetLeuTyrLeuArgThrValLysTerG lyPheTerLeuIleThrGlyCysCysLeuArgLysLysGlyArgAspVal AlaGlyIleLeuMetGluAsnIleMetAspTyrIleValLysGlyHisVa lTerTyrPhePheLysTyrAsnValHisSerThrPheGluMetArgTerS erGlyThrSerArgTerAspAsnLysCysLeuIleValValLysGlnCys SerLeuThrTerAsnLeuGlnThrTerLysLeuAsnPheLeuSerAsnCy sCysLeuIleIleSerLysGlnAsnLeuCysIleCysMetAsnThrLysL ysSerLeuLysThrLeuMetMetHisIlePheHisValThrIleSerSer SerSerSerAsnAsnLysTyrTyrLeuLeuLeuSerSerSerTerLysVa lValGluThrTyrMetHisThrTyrSerLysIlePheIlePheAspPheH isValHisAspLeuTerArgThrSerLysPheSerTerTyrIleProLeu LeuPheProGluIleIleLysIleTyrGlnLeuGlyPhePheCysTerPh eIleIleCysTerAspTyrIleSerGlyThrLysIleLeuArgHisPheS erLeuTyrSerThrTerLysValHisTyrValTerLysPheThrTyrThr TyrLeuLeuAlaLeuLeuLysAspPheProCysValLeuThrPheLeuTy rLeuPheProGlnThrPheLeuCysSerArgProArgGlyIleLeuProT erProProIleHisThrMetTyrValGluValSerIleIleThrPheLys IleHisTerGlnLeuGlyGlyLysValIleLeuLeuThrTyrThrTyrVa lTerLeuLeuIleHisGlnGlySerLysPheTyrGlyLeuIleLeuPheS erAsnLeuLysTyrIleTyrThrCysTyrValGlnGluIleThrPhePhe TerTerTerGlnTerLeuPheGlnIleGluAsnAsnThrPheTyrArgLe uGlySerLeuLysAsnLysLeuAsnPheTerCysAlaLysValTyrValT hrArgGluTerTerLysTerIleProGlyLeuProValLeuSerArgVal LeuSerThrValSerCysLeuThrTerIleProThrLysCysHisPheSe rIleValThrCysHisTerAsnAlaThrValTyrHisLysAsnAlaLysP heValLysIleHisTyrIleTyrPheLeuIleAlaIleMetAlaIleTyr IleHisPheLeuArgValIleGluTyrTyrLeuAlaThrLysLysGluTe rAsnHisValPheCysSerAsnMetAspGlyAsnGlyGlyHisTyrLeuS erGluValThrGlnLysValLysHisHisMetPheSerLeuIleSerGly SerTerIleIleCysThrHisGlyHisSerMetTerSerThrPheIleAs nIleIleAsnLeuCysArgGluLysTyrValPheProGlnAsnAsnLeuP heTyrLeuSerSerHisProIleProSerProAspLeuLysTerAlaAsn AsnPheAsnThrLysLeuAlaLeuThrTyrTerGlnTerAsnTerPheTe rGlyTyrTerGlyIleLysLysLeuTyrLysCysTerAlaTerLeuAsnS erProLeuPheIleGlnThrThrTerArgGlyMetThrGlnIleAsnCys ThrGlnValThrGluPheIleLeuValGlyLeuThrAspArgGlnGluLe uLysMetProLeuPheValLeuPheLeuSerIleTyrLeuPheThrValV alGlyAsnLeuGlyLeuIleLeuLeuIleArgThrAspGluLysLeuAsn ThrProMetTyrPhePheLeuSerAsnLeuAlaPheValAspPheCysTy rSerSerValIleThrProLysMetLeuGlyAsnPheLeuTyrLysGlnA snSerIleSerPheAsnAlaCysAlaAlaGlnLeuGlyCysPheLeuAla PheMetThrAlaGluCysLeuLeuLeuAlaSerMetAlaTyrAspArgTy rValAlaIleCysAsnProLeuMetTyrMetValValMetSerProGlyI leCysIleGlnLeuValAlaAlaProHisSerTyrSerIleLeuValAla LeuPheHisThrIleLeuThrPheArgLeuSerTyrCysHisSerAsnIl eValAsnHisPheTyrCysAspAspMetProLeuLeuArgLeuThrCysS erAspThrArgPheLysGlnLeu	OR8U1	ENSG00000172199.1	transcript	ENST00000302270.1	protein_coding	1/1	591/930	591/930	197/309		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOF_chr2_26452203_26483124	26477421	C C	A A	stop_gained stop_gained	HIGH	HG01891.hp2 HG02055.hp1 HG02109.hp1 others(9): Show HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG03225.hp2 HG03471.hp2	a0003 a0007 a0003 a0007	a0003c0006 a0007c0020 a0003c0006 a0007c0020	a0003c0006t0002 a0007c0020t0006 a0003c0006t0002 a0007c0020t0006	a0003c0006t0002g0032 a0003c0006t0002g0033 a0003c0006t0002g0204 others(7): Show a0003c0006t0002g0032 a0003c0006t0002g0033 a0003c0006t0002g0204 a0003c0006t0002g0205 a0003c0006t0002g0206 a0003c0006t0002g0207 a0003c0006t0002g0208 a0003c0006t0002g0209 a0007c0020t0006g0184 a0007c0020t0006g0185	12	330	0.0364	0	c.160 others(3): Show c.160G>T	p.Glu others(3): Show p.Glu54*	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	3/29	468/4838	160/3693	54/1230			chr2	TogoVar
OTOF_chr2_26452203_26563756	26477421	C C	A A	stop_gained stop_gained	HIGH	HG01891.hp2 HG02055.hp1 HG02109.hp1 others(9): Show HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG03225.hp2 HG03471.hp2	a0005 a0014 a0005 a0014	a0005c0012 a0005c0026 a0014c0033 a0005c0012 a0005c0026 a0014c0033	a0005c0012t0001 a0005c0026t0003 a0014c0033t0001 a0005c0012t0001 a0005c0026t0003 a0014c0033t0001	a0005c0012t0001g0036 a0005c0012t0001g0170 a0005c0012t0001g0171 others(9): Show a0005c0012t0001g0036 a0005c0012t0001g0170 a0005c0012t0001g0171 a0005c0012t0001g0179 a0005c0012t0001g0180 a0005c0012t0001g0187 a0005c0012t0001g0195 a0005c0026t0003g0268 a0005c0026t0003g0274 a0005c0026t0003g0275 a0014c0033t0001g0048 a0014c0033t0001g0174	12	284	0.0423	0	c.240 others(4): Show c.2401G>T	p.Glu others(4): Show p.Glu801*	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	20/47	2586/7214	2401/5994	801/1997			chr2	TogoVar
PATE4_chr11_125828316_125845072	125837866	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(193): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0004c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0012g0001 a0001c0001t0016g0001 a0001c0001t0017g0043 a0004c0003t0001g0001	196	424	0.4623	0	c.59- others(4): Show c.59-2A>C		PATE4	ENSG00000237353.7	transcript	ENST00000457514.3	protein_coding	1/2						chr11	TogoVar
PEBP4_chr8_22708251_22932914	22713394	GT GT	G G	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00544.hp2 others(74): Show HG00140.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03927.hp1 HG04204.hp1 NA18951.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18999.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0003 a0004 a0006 others(5): Show a0003 a0004 a0006 a0008 a0011 a0012 a0017 a0020	a0003c0003 a0003c0011 a0003c0013 others(9): Show a0003c0003 a0003c0011 a0003c0013 a0004c0004 a0004c0008 a0006c0007 a0006c0033 a0008c0010 a0011c0029 a0012c0028 a0017c0024 a0020c0017	a0003c0003t0003 a0003c0003t0004 a0003c0003t0010 others(15): Show a0003c0003t0003 a0003c0003t0004 a0003c0003t0010 a0003c0011t0006 a0003c0013t0003 a0003c0013t0004 a0004c0004t0003 a0004c0004t0004 a0004c0008t0006 a0004c0008t0008 a0006c0007t0003 a0006c0007t0004 a0006c0033t0008 a0008c0010t0004 a0011c0029t0003 a0012c0028t0003 a0017c0024t0003 a0020c0017t0011	a0003c0003t0003g0034 a0003c0003t0003g0036 a0003c0003t0003g0040 others(74): Show a0003c0003t0003g0034 a0003c0003t0003g0036 a0003c0003t0003g0040 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0074 a0003c0003t0003g0077 a0003c0003t0003g0081 a0003c0003t0003g0083 a0003c0003t0003g0089 a0003c0003t0003g0116 a0003c0003t0003g0124 a0003c0003t0003g0130 a0003c0003t0003g0135 a0003c0003t0003g0136 a0003c0003t0003g0155 a0003c0003t0004g0213 a0003c0003t0004g0216 a0003c0003t0004g0226 a0003c0003t0004g0246 a0003c0003t0004g0252 a0003c0003t0004g0260 a0003c0003t0004g0269 a0003c0003t0010g0095 a0003c0011t0006g0005 a0003c0011t0006g0008 a0003c0011t0006g0017 a0003c0011t0006g0028 a0003c0013t0003g0107 a0003c0013t0004g0247 a0004c0004t0003g0050 a0004c0004t0003g0052 a0004c0004t0003g0053 a0004c0004t0003g0054 a0004c0004t0003g0117 a0004c0004t0003g0137 a0004c0004t0003g0141 a0004c0004t0003g0151 a0004c0004t0004g0171 a0004c0004t0004g0180 a0004c0004t0004g0183 a0004c0004t0004g0188 a0004c0004t0004g0195 a0004c0004t0004g0205 a0004c0004t0004g0217 a0004c0004t0004g0224 a0004c0004t0004g0236 a0004c0004t0004g0255 a0004c0004t0004g0256 a0004c0004t0004g0259 a0004c0004t0004g0262 a0004c0004t0004g0267 a0004c0008t0006g0010 a0004c0008t0006g0011 a0004c0008t0006g0016 a0004c0008t0006g0024 a0004c0008t0006g0027 a0004c0008t0008g0014 a0006c0007t0003g0048 a0006c0007t0003g0062 a0006c0007t0003g0072 a0006c0007t0003g0076 a0006c0007t0003g0097 a0006c0007t0003g0127 a0006c0007t0004g0243 a0006c0007t0004g0251 a0006c0007t0004g0253 a0006c0033t0008g0026 a0008c0010t0004g0169 a0008c0010t0004g0182 a0008c0010t0004g0189 a0008c0010t0004g0190 a0011c0029t0003g0060 a0012c0028t0003g0061 a0017c0024t0003g0109 a0020c0017t0011g0032	77	278	0.2770	-1	c.659 others(4): Show c.659delA	p.Asn others(5): Show p.Asn220fs	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	7/7	757/901	659/684	220/227			chr8	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
PKD2L1_chr10_100283149_100335228	100296259	G G	A A	stop_gained stop_gained	HIGH	HG01109.hp2 HG01884.hp2 HG01891.hp1 others(16): Show HG01109.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG06807.hp2 NA19240.hp1 NA21309.hp2	a0004 a0011 a0004 a0011	a0004c0005 a0004c0015 a0004c0022 others(1): Show a0004c0005 a0004c0015 a0004c0022 a0011c0014	a0004c0005t0001 a0004c0015t0001 a0004c0022t0001 others(1): Show a0004c0005t0001 a0004c0015t0001 a0004c0022t0001 a0011c0014t0001	a0004c0005t0001g0062 a0004c0005t0001g0187 a0004c0005t0001g0200 others(16): Show a0004c0005t0001g0062 a0004c0005t0001g0187 a0004c0005t0001g0200 a0004c0005t0001g0212 a0004c0005t0001g0214 a0004c0005t0001g0215 a0004c0005t0001g0216 a0004c0005t0001g0218 a0004c0005t0001g0219 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0224 a0004c0015t0001g0211 a0004c0015t0001g0213 a0004c0022t0001g0217 a0011c0014t0001g0226 a0011c0014t0001g0227	19	306	0.0621	0	c.121 others(4): Show c.1219C>T	p.Arg others(4): Show p.Arg407*	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	7/16	1344/2790	1219/2418	407/805			chr10	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
PLET1_chr11_112243153_112265860	112255588	T T	TA TA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG01243.hp2 HG02451.hp1 HG02615.hp1 others(4): Show HG01243.hp2 HG02451.hp1 HG02615.hp1 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0010 a0003c0004 a0003c0010	a0003c0004t0001 a0003c0010t0001 a0003c0004t0001 a0003c0010t0001	a0003c0004t0001g0023 a0003c0004t0001g0039 a0003c0004t0001g0137 others(1): Show a0003c0004t0001g0023 a0003c0004t0001g0039 a0003c0004t0001g0137 a0003c0010t0001g0136	7	368	0.0190	1	c.185 others(4): Show c.185dupT	p.Phe others(4): Show p.Phe63fs	PLET1	ENSG00000188771.5	transcript	ENST00000338832.4	protein_coding	2/4	456/1541	185/624	62/207			chr11	TogoVar
PLK4_chr4_127875893_127904224	127891075	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(76): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01358.hp2 HG01978.hp2 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02723.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18977.hp2 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0008c0011 a0009c0014	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001 a0008c0011t0001 a0009c0014t0001	a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0111 others(43): Show a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0153 a0001c0001t0001g0174 a0001c0001t0007g0133 a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0004 a0001c0003t0001g0008 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0005t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0245 a0002c0002t0001g0261 a0008c0011t0001g0002 a0009c0014t0001g0052	79	364	0.2170	1	c.183 others(7): Show c.1831-3dupT		PLK4	ENSG00000142731.11	transcript	ENST00000270861.10	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
PLK5_chr19_1519077_1541046	1534043	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0011 a0013	a0001c0001 a0001c0016 a0001c0020 others(4): Show a0001c0001 a0001c0016 a0001c0020 a0006c0007 a0007c0009 a0011c0013 a0013c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0065 a0001c0001t0066 a0001c0016t0001 a0001c0020t0005 a0006c0007t0008 a0006c0007t0076 a0007c0009t0001 a0011c0013t0050 a0013c0018t0011	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(160): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0171 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0004g0037 a0001c0001t0004g0040 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0251 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0270 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0280 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0005g0010 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0053 a0001c0001t0005g0193 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0210 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0215 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0005g0224 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0008g0009 a0001c0001t0008g0023 a0001c0001t0008g0030 a0001c0001t0008g0140 a0001c0001t0009g0181 a0001c0001t0009g0182 a0001c0001t0009g0183 a0001c0001t0009g0184 a0001c0001t0009g0185 a0001c0001t0009g0186 a0001c0001t0009g0187 a0001c0001t0009g0188 a0001c0001t0009g0192 a0001c0001t0009g0283 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0011g0153 a0001c0001t0011g0154 a0001c0001t0011g0156 a0001c0001t0011g0157 a0001c0001t0013g0208 a0001c0001t0022g0010 a0001c0001t0022g0032 a0001c0001t0023g0116 a0001c0001t0023g0117 a0001c0001t0023g0245 a0001c0001t0024g0256 a0001c0001t0024g0257 a0001c0001t0024g0259 a0001c0001t0028g0203 a0001c0001t0028g0204 a0001c0001t0030g0130 a0001c0001t0030g0131 a0001c0001t0031g0036 a0001c0001t0031g0238 a0001c0001t0032g0174 a0001c0001t0032g0175 a0001c0001t0037g0052 a0001c0001t0039g0061 a0001c0001t0041g0226 a0001c0001t0043g0189 a0001c0001t0047g0229 a0001c0001t0049g0128 a0001c0001t0051g0054 a0001c0001t0056g0100 a0001c0001t0057g0284 a0001c0001t0058g0036 a0001c0001t0059g0142 a0001c0001t0061g0037 a0001c0001t0065g0195 a0001c0001t0066g0200 a0001c0016t0001g0002 a0001c0020t0005g0209 a0006c0007t0008g0023 a0006c0007t0008g0137 a0006c0007t0008g0138 a0006c0007t0076g0318 a0007c0009t0001g0017 a0007c0009t0001g0064 a0007c0009t0001g0121 a0011c0013t0050g0113 a0013c0018t0011g0150	210	430	0.4884	0	c.825 others(5): Show c.825+2T>C		PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	13/13						chr19	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
PPIAL4D_chr1_145236415_145247174	145241638	G G	A A	stop_gained stop_gained	HIGH	HG00639.hp2 HG02451.hp2 NA21309.hp2 HG00639.hp2 HG02451.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	3	396	0.0076	0	c.487 others(3): Show c.487C>T	p.Gln others(4): Show p.Gln163*	PPIAL4D	ENSG00000289549.1	transcript	ENST00000544708.3	protein_coding	1/1	537/760	487/495	163/164			chr1	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
PRM3_chr16_11268199_11278629	11273286	A A	G G	stop_lost stop_lost	HIGH	HG01496.hp1 HG02280.hp1 HG02451.hp1 others(9): Show HG01496.hp1 HG02280.hp1 HG02451.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp2 NA18906.hp1 NA20129.hp2 NA21309.hp2	a0000 a0000	a0000c0004 a0000c0007 a0000c0004 a0000c0007	a0000c0004t0001 a0000c0004t0002 a0000c0007t0002 a0000c0004t0001 a0000c0004t0002 a0000c0007t0002	a0000c0004t0001g0000 a0000c0004t0002g0000 a0000c0007t0002g0000 a0000c0004t0001g0000 a0000c0004t0002g0000 a0000c0007t0002g0000	12	414	0.0290	0	c.310 others(3): Show c.310T>C	p.Ter others(11): Show p.Ter104Argext*?	PRM3	ENSG00000178257.4	transcript	ENST00000327157.4	protein_coding	1/1	344/431	310/312	104/103			chr16	TogoVar
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
PRRT1B_chr9_131540523_131564815	131545620	A A	AGGCAGGA others(8): Show AGGCAGGAGCTGGAGG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01167.hp1 HG01891.hp2 HG02451.hp2 others(11): Show HG01167.hp1 HG01891.hp2 HG02451.hp2 HG02647.hp1 HG02886.hp1 HG02970.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA21309.hp2	a0005 a0006 a0005 a0006	a0005c0006 a0006c0009 a0005c0006 a0006c0009	a0005c0006t0007 a0005c0006t0014 a0005c0006t0022 others(5): Show a0005c0006t0007 a0005c0006t0014 a0005c0006t0022 a0005c0006t0032 a0005c0006t0034 a0005c0006t0036 a0006c0009t0016 a0006c0009t0044	a0005c0006t0007g0081 a0005c0006t0007g0082 a0005c0006t0014g0024 others(9): Show a0005c0006t0007g0081 a0005c0006t0007g0082 a0005c0006t0014g0024 a0005c0006t0014g0040 a0005c0006t0014g0084 a0005c0006t0022g0039 a0005c0006t0032g0040 a0005c0006t0034g0085 a0005c0006t0036g0024 a0006c0009t0016g0083 a0006c0009t0016g0086 a0006c0009t0044g0087	14	458	0.0306	15	c.12_ others(22): Show c.12_25+1dupAGCTGGAGGGGCAGG		PRRT1B	ENSG00000283526.2	transcript	ENST00000636672.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	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
PSG4_chr19_43187702_43210638	43204252	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG01071.hp2 HG01256.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG02015.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA19030.hp2 NA19060.hp1 NA19086.hp1 NA20752.hp1 NA20905.hp1	a0002 a0014 a0018 others(1): Show a0002 a0014 a0018 a0019	a0002c0002 a0014c0020 a0018c0038 others(1): Show a0002c0002 a0014c0020 a0018c0038 a0019c0037	a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 others(4): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 a0002c0002t0018 a0014c0020t0003 a0018c0038t0006 a0019c0037t0003	a0002c0002t0003g0001 a0002c0002t0003g0021 a0002c0002t0003g0162 others(22): Show a0002c0002t0003g0001 a0002c0002t0003g0021 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0170 a0002c0002t0003g0174 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0006g0171 a0002c0002t0006g0173 a0002c0002t0006g0175 a0002c0002t0017g0165 a0002c0002t0018g0172 a0014c0020t0003g0041 a0018c0038t0006g0183 a0019c0037t0003g0169	42	300	0.1400	0	c.65- others(4): Show c.65-1G>A		PSG4	ENSG00000243137.8	transcript	ENST00000405312.8	protein_coding	1/5						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
PSORS1C1_chr6_31109800_31145092	31138723	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00733.hp2 HG00735.hp1 others(54): Show HG00423.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01261.hp1 HG01346.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG03225.hp2 HG03239.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp1 NA18522.hp2 NA18940.hp2 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18969.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA19001.hp2 NA19004.hp1 NA19009.hp2 NA19059.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp1 NA20129.hp1 NA20300.hp2	a0004 a0006 a0004 a0006	a0004c0005 a0006c0006 a0006c0013 a0004c0005 a0006c0006 a0006c0013	a0004c0005t0001 a0004c0005t0003 a0004c0005t0005 others(4): Show a0004c0005t0001 a0004c0005t0003 a0004c0005t0005 a0004c0005t0006 a0004c0005t0021 a0006c0006t0004 a0006c0013t0019	a0004c0005t0001g0090 a0004c0005t0001g0195 a0004c0005t0001g0205 others(25): Show a0004c0005t0001g0090 a0004c0005t0001g0195 a0004c0005t0001g0205 a0004c0005t0003g0011 a0004c0005t0003g0016 a0004c0005t0003g0170 a0004c0005t0003g0171 a0004c0005t0003g0172 a0004c0005t0003g0179 a0004c0005t0003g0180 a0004c0005t0003g0181 a0004c0005t0003g0187 a0004c0005t0003g0190 a0004c0005t0005g0228 a0004c0005t0006g0023 a0004c0005t0006g0165 a0004c0005t0006g0166 a0004c0005t0006g0167 a0004c0005t0021g0237 a0006c0006t0004g0002 a0006c0006t0004g0017 a0006c0006t0004g0028 a0006c0006t0004g0056 a0006c0006t0004g0057 a0006c0006t0004g0223 a0006c0006t0004g0224 a0006c0006t0004g0225 a0006c0013t0019g0227	57	449	0.1270	1	c.118 others(4): Show c.118dupC	p.His others(4): Show p.His40fs	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding	5/6	439/939	119/459	40/152		INFO_REALIGN_3_PRIME	chr6	TogoVar
PYGL_chr14_50900217_50949483	50911872	CT CT	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0015 a0001c0017 a0001c0021 a0002c0004 a0002c0008 a0002c0016 a0003c0010 a0003c0019 a0004c0011 a0004c0022 a0005c0013 a0007c0023 a0008c0020	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002 a0001c0009t0002 a0001c0009t0003 a0001c0012t0002 a0001c0015t0003 a0001c0017t0002 a0001c0021t0002 a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 a0002c0016t0003 a0003c0010t0002 a0003c0010t0003 a0003c0019t0002 a0004c0011t0002 a0004c0022t0002 a0005c0013t0002 a0007c0023t0002 a0008c0020t0001	a0001c0001t0002g0010 a0001c0001t0002g0100 a0001c0001t0002g0114 others(188): Show a0001c0001t0002g0010 a0001c0001t0002g0100 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0155 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0003g0121 a0001c0001t0003g0138 a0001c0001t0005g0291 a0001c0002t0001g0221 a0001c0002t0003g0001 a0001c0002t0003g0005 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0036 a0001c0002t0003g0039 a0001c0002t0003g0041 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0051 a0001c0002t0003g0088 a0001c0002t0003g0113 a0001c0002t0003g0132 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0190 a0001c0002t0003g0211 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0227 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0253 a0001c0002t0003g0260 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0003t0002g0006 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0054 a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0002g0068 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0005t0002g0004 a0001c0005t0002g0015 a0001c0005t0002g0040 a0001c0005t0002g0195 a0001c0005t0002g0196 a0001c0005t0002g0197 a0001c0005t0002g0198 a0001c0005t0002g0199 a0001c0005t0002g0200 a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0002g0204 a0001c0005t0002g0205 a0001c0006t0001g0166 a0001c0006t0002g0011 a0001c0006t0002g0033 a0001c0006t0002g0048 a0001c0006t0002g0135 a0001c0006t0002g0141 a0001c0006t0002g0156 a0001c0006t0002g0157 a0001c0006t0002g0167 a0001c0006t0002g0171 a0001c0006t0002g0180 a0001c0006t0002g0201 a0001c0006t0002g0252 a0001c0006t0002g0273 a0001c0006t0002g0274 a0001c0007t0001g0284 a0001c0007t0002g0052 a0001c0007t0002g0276 a0001c0007t0002g0277 a0001c0007t0002g0278 a0001c0007t0002g0282 a0001c0007t0002g0283 a0001c0007t0002g0285 a0001c0007t0002g0286 a0001c0007t0002g0287 a0001c0007t0002g0288 a0001c0009t0002g0056 a0001c0009t0002g0057 a0001c0009t0002g0063 a0001c0009t0003g0067 a0001c0009t0003g0077 a0001c0009t0003g0087 a0001c0012t0002g0055 a0001c0012t0002g0072 a0001c0012t0002g0073 a0001c0015t0003g0042 a0001c0017t0002g0078 a0001c0021t0002g0280 a0002c0004t0001g0028 a0002c0004t0001g0091 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0099 a0002c0004t0001g0101 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0161 a0002c0004t0001g0162 a0002c0004t0001g0163 a0002c0004t0001g0164 a0002c0004t0001g0264 a0002c0008t0001g0024 a0002c0008t0001g0025 a0002c0008t0001g0064 a0002c0008t0001g0074 a0002c0008t0001g0075 a0002c0008t0001g0076 a0002c0008t0003g0071 a0002c0016t0003g0070 a0003c0010t0002g0019 a0003c0010t0002g0059 a0003c0010t0003g0020 a0003c0010t0003g0021 a0003c0010t0003g0058 a0003c0010t0003g0060 a0003c0019t0002g0271 a0004c0011t0002g0034 a0004c0011t0002g0168 a0004c0011t0002g0169 a0004c0022t0002g0279 a0005c0013t0002g0008 a0007c0023t0002g0289 a0008c0020t0001g0281	253	390	0.6487	-1	c.182 others(7): Show c.1828-2delA		PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding	15/19						chr14	TogoVar
RAB40A_chrX_103494130_103524489	103500824	GTTC GTTC	G G	splice_acceptor_variant others(2): Show splice_acceptor_variant 5_prime_UTR_variant intron_variant	HIGH	HG01109.hp1 HG02258.hp1 HG02451.hp2 others(11): Show HG01109.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0069 others(1): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0069 a0001c0001t0002g0072	14	266	0.0526	-3	c.-70 others(12): Show c.-70-1_-69delGAA		RAB40A	ENSG00000172476.4	transcript	ENST00000304236.2	protein_coding	3/3				69		chrX	TogoVar
RECQL5_chr17_75621854_75672154	75630838	C C	CTG CTG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(144): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0021 others(6): Show a0001c0001 a0001c0002 a0001c0021 a0002c0003 a0002c0013 a0004c0009 a0009c0015 a0011c0025 a0012c0022	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0021t0001 a0002c0003t0001 a0002c0013t0001 a0004c0009t0001 a0009c0015t0001 a0011c0025t0001 a0012c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(111): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0010g0234 a0001c0002t0001g0199 a0001c0002t0001g0281 a0001c0002t0001g0290 a0001c0002t0003g0258 a0001c0002t0005g0232 a0001c0021t0001g0246 a0002c0003t0001g0147 a0002c0013t0001g0171 a0002c0013t0001g0269 a0004c0009t0001g0131 a0004c0009t0001g0228 a0009c0015t0001g0124 a0009c0015t0001g0125 a0011c0025t0001g0260 a0012c0022t0001g0217	147	378	0.3889	2	c.158 others(15): Show c.1586-3_1586-2dupCA		RECQL5	ENSG00000108469.15	transcript	ENST00000317905.10	protein_coding	11/19						chr17	TogoVar
RGPD4_chr2_107821892_107897544	107838282	C C	T T	stop_gained stop_gained	HIGH	HG01081.hp2 HG01167.hp2 HG02257.hp2 others(17): Show HG01081.hp2 HG01167.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0006 a0022 a0006 a0022	a0006c0007 a0006c0008 a0006c0076 others(3): Show a0006c0007 a0006c0008 a0006c0076 a0006c0077 a0022c0030 a0022c0031	a0006c0007t0005 a0006c0007t0018 a0006c0008t0005 others(5): Show a0006c0007t0005 a0006c0007t0018 a0006c0008t0005 a0006c0008t0012 a0006c0076t0005 a0006c0077t0030 a0022c0030t0014 a0022c0031t0014	a0006c0007t0005g0193 a0006c0007t0005g0194 a0006c0007t0005g0195 others(17): Show a0006c0007t0005g0193 a0006c0007t0005g0194 a0006c0007t0005g0195 a0006c0007t0005g0196 a0006c0007t0005g0197 a0006c0007t0005g0210 a0006c0007t0018g0198 a0006c0007t0018g0199 a0006c0008t0005g0204 a0006c0008t0005g0205 a0006c0008t0005g0206 a0006c0008t0005g0207 a0006c0008t0005g0208 a0006c0008t0012g0202 a0006c0008t0012g0203 a0006c0008t0012g0209 a0006c0076t0005g0192 a0006c0077t0030g0201 a0022c0030t0014g0182 a0022c0031t0014g0010	20	374	0.0535	0	c.166 others(3): Show c.166C>T	p.Arg others(3): Show p.Arg56*	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	3/23	288/7212	166/5277	56/1758			chr2	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
RTL4_chrX_112078016_112462514	112130967	T T	TTGTATTT others(309): Show TTGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01168.hp1 HG02055.hp1 HG02257.hp2 others(6): Show HG01168.hp1 HG02055.hp1 HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02630.hp2 HG02895.hp1 HG02976.hp1 HG03195.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004	a0001c0002t0002 a0001c0002t0004 a0001c0003t0003 others(2): Show a0001c0002t0002 a0001c0002t0004 a0001c0003t0003 a0002c0001t0001 a0003c0004t0001	a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0032 others(6): Show a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0032 a0001c0002t0002g0131 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0003t0003g0028 a0002c0001t0001g0026 a0003c0004t0001g0034	9	134	0.0672	316	c.-56 others(329): Show c.-563-3_-563-2insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGTATTTTTTTTT		RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
RWDD1_chr6_116566504_116602675	116590870	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00741.hp1 HG01243.hp1 HG02055.hp2 others(11): Show HG00741.hp1 HG01243.hp1 HG02055.hp2 HG02129.hp2 HG02451.hp2 HG02523.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03195.hp2 HG03209.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020	a0001c0001t0003g0021 a0001c0001t0003g0032 a0001c0001t0003g0064 others(6): Show a0001c0001t0003g0021 a0001c0001t0003g0032 a0001c0001t0003g0064 a0001c0001t0007g0050 a0001c0001t0009g0055 a0001c0001t0011g0111 a0001c0001t0015g0022 a0001c0001t0015g0031 a0001c0001t0020g0022	14	378	0.0370	1	c.548 others(6): Show c.548-3dupT		RWDD1	ENSG00000111832.13	transcript	ENST00000466444.7	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
RXFP2_chr13_31734526_31808389	31786554	T T	TA TA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00609.hp1 HG00673.hp2 others(50): Show HG00438.hp1 HG00609.hp1 HG00673.hp2 HG00735.hp1 HG01074.hp2 HG01106.hp2 HG01167.hp1 HG01433.hp2 HG01515.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp1 HG02976.hp1 HG03130.hp2 NA18747.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18978.hp2 NA18987.hp1 NA18994.hp1 NA19001.hp1 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19064.hp1 NA19065.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0013 a0002c0003 a0008c0007 a0001c0013 a0002c0003 a0008c0007	a0001c0013t0002 a0002c0003t0003 a0008c0007t0003 a0001c0013t0002 a0002c0003t0003 a0008c0007t0003	a0001c0013t0002g0012 a0002c0003t0003g0021 a0002c0003t0003g0022 others(50): Show a0001c0013t0002g0012 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0037 a0002c0003t0003g0048 a0002c0003t0003g0049 a0002c0003t0003g0050 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0054 a0002c0003t0003g0056 a0002c0003t0003g0057 a0002c0003t0003g0058 a0002c0003t0003g0059 a0002c0003t0003g0060 a0002c0003t0003g0062 a0002c0003t0003g0063 a0002c0003t0003g0064 a0002c0003t0003g0065 a0002c0003t0003g0066 a0002c0003t0003g0067 a0002c0003t0003g0068 a0002c0003t0003g0069 a0002c0003t0003g0070 a0002c0003t0003g0071 a0002c0003t0003g0072 a0002c0003t0003g0073 a0002c0003t0003g0074 a0002c0003t0003g0075 a0002c0003t0003g0083 a0002c0003t0003g0085 a0002c0003t0003g0089 a0002c0003t0003g0090 a0002c0003t0003g0091 a0002c0003t0003g0094 a0002c0003t0003g0102 a0002c0003t0003g0104 a0002c0003t0003g0133 a0002c0003t0003g0223 a0002c0003t0003g0233 a0002c0003t0003g0234 a0002c0003t0003g0287 a0002c0003t0003g0370 a0002c0003t0003g0371 a0002c0003t0003g0374 a0002c0003t0003g0377 a0002c0003t0003g0378 a0008c0007t0003g0061	53	386	0.1373	1	c.100 others(7): Show c.1002-2dupA		RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
SAMD15_chr14_77372379_77397163	77377420	T T	G G	start_lost start_lost	HIGH	HG02451.hp1 HG02572.hp2 HG03209.hp2 HG02451.hp1 HG02572.hp2 HG03209.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0023 a0006c0008t0002g0036 a0006c0008t0002g0023 a0006c0008t0002g0036	3	314	0.0096	0	c.2T> others(1): Show c.2T>G	p.Met others(2): Show p.Met1?	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding	1/3	42/2984	2/2025	1/674			chr14	TogoVar
SCAPER_chr15_76342904_76910340	76883817	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show HG00140.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0008 a0010 a0011 a0012	a0002c0002 a0002c0022 a0003c0003 others(5): Show a0002c0002 a0002c0022 a0003c0003 a0005c0011 a0008c0015 a0010c0023 a0011c0024 a0012c0025	a0002c0002t0002 a0002c0022t0002 a0003c0003t0002 others(9): Show a0002c0002t0002 a0002c0022t0002 a0003c0003t0002 a0003c0003t0005 a0003c0003t0006 a0003c0003t0007 a0003c0003t0011 a0005c0011t0002 a0008c0015t0002 a0010c0023t0002 a0011c0024t0002 a0012c0025t0002	a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0022t0002g0290 a0003c0003t0002g0186 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0191 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0198 a0003c0003t0002g0199 a0003c0003t0002g0200 a0003c0003t0002g0201 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0206 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0209 a0003c0003t0002g0210 a0003c0003t0002g0211 a0003c0003t0002g0212 a0003c0003t0002g0294 a0003c0003t0005g0195 a0003c0003t0006g0196 a0003c0003t0007g0250 a0003c0003t0011g0312 a0005c0011t0002g0225 a0005c0011t0002g0275 a0005c0011t0002g0285 a0008c0015t0002g0220 a0008c0015t0002g0277 a0010c0023t0002g0229 a0011c0024t0002g0284 a0012c0025t0002g0263	117	312	0.3750	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/32	102/5033	1/4203	1/1400			chr15	TogoVar
SCART1_chr10_133448945_133474760	133464740	CTGGGGTG CTGGGGTG	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1	a0003 a0004 a0009 others(8): Show a0003 a0004 a0009 a0011 a0021 a0027 a0030 a0032 a0034 a0035 a0037	a0003c0003 a0003c0007 a0003c0008 others(24): Show a0003c0003 a0003c0007 a0003c0008 a0003c0009 a0003c0024 a0003c0027 a0003c0038 a0003c0039 a0004c0005 a0004c0010 a0004c0019 a0004c0020 a0004c0021 a0004c0043 a0004c0057 a0004c0058 a0004c0065 a0009c0025 a0009c0047 a0011c0016 a0021c0060 a0027c0050 a0030c0045 a0032c0031 a0034c0033 a0035c0032 a0037c0041	a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 others(28): Show a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 a0003c0009t0003 a0003c0009t0006 a0003c0024t0003 a0003c0027t0007 a0003c0038t0003 a0003c0039t0003 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0010t0003 a0004c0019t0007 a0004c0019t0008 a0004c0020t0005 a0004c0021t0003 a0004c0043t0005 a0004c0057t0003 a0004c0058t0019 a0004c0065t0003 a0009c0025t0003 a0009c0047t0004 a0011c0016t0004 a0021c0060t0003 a0027c0050t0004 a0030c0045t0004 a0032c0031t0003 a0034c0033t0003 a0035c0032t0004 a0037c0041t0004	a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(69): Show a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 a0003c0003t0003g0029 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0112 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0170 a0003c0007t0003g0098 a0003c0007t0003g0101 a0003c0007t0003g0103 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0109 a0003c0007t0003g0111 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0009t0003g0120 a0003c0009t0006g0024 a0003c0009t0006g0123 a0003c0024t0003g0102 a0003c0024t0003g0106 a0003c0024t0003g0136 a0003c0027t0007g0119 a0003c0027t0007g0124 a0003c0038t0003g0005 a0003c0039t0003g0126 a0004c0005t0003g0027 a0004c0005t0003g0036 a0004c0005t0003g0054 a0004c0005t0003g0117 a0004c0005t0005g0166 a0004c0005t0005g0168 a0004c0005t0007g0143 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0034 a0004c0010t0003g0094 a0004c0010t0003g0110 a0004c0019t0007g0118 a0004c0019t0008g0132 a0004c0019t0008g0133 a0004c0019t0008g0134 a0004c0020t0005g0044 a0004c0020t0005g0164 a0004c0020t0005g0165 a0004c0021t0003g0099 a0004c0021t0003g0100 a0004c0021t0003g0107 a0004c0021t0003g0108 a0004c0043t0005g0167 a0004c0057t0003g0131 a0004c0058t0019g0060 a0004c0065t0003g0029 a0009c0025t0003g0030 a0009c0025t0003g0122 a0009c0047t0004g0055 a0011c0016t0004g0017 a0011c0016t0004g0050 a0021c0060t0003g0158 a0027c0050t0004g0017 a0030c0045t0004g0137 a0032c0031t0003g0121 a0034c0033t0003g0096 a0035c0032t0004g0017 a0037c0041t0004g0053	102	434	0.2350	-7	c.211 others(16): Show c.2117_2123delTGTGGGG	p.Val others(5): Show p.Val706fs	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	7/12	2170/4929	2117/3084	706/1027		INFO_REALIGN_3_PRIME	chr10	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
SIGLEC11_chr19_49943985_49966172	49960562	TAGAA TAGAA	T T	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG00733.hp1 HG00735.hp2 others(62): Show HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG04199.hp1 HG06807.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0004 a0007 a0012 others(3): Show a0004 a0007 a0012 a0014 a0017 a0018	a0004c0004 a0004c0008 a0004c0015 others(16): Show a0004c0004 a0004c0008 a0004c0015 a0004c0021 a0004c0022 a0004c0030 a0004c0032 a0004c0039 a0007c0009 a0007c0011 a0007c0043 a0007c0044 a0007c0045 a0007c0046 a0012c0025 a0012c0028 a0014c0026 a0017c0023 a0018c0047	a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 others(18): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0008t0001 a0004c0015t0001 a0004c0021t0006 a0004c0022t0001 a0004c0030t0001 a0004c0032t0001 a0004c0039t0001 a0007c0009t0003 a0007c0011t0004 a0007c0043t0004 a0007c0044t0003 a0007c0045t0003 a0007c0046t0004 a0012c0025t0001 a0012c0028t0014 a0014c0026t0001 a0017c0023t0001 a0018c0047t0001	a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0014 others(33): Show a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0014 a0004c0004t0001g0112 a0004c0004t0001g0114 a0004c0004t0001g0115 a0004c0004t0002g0040 a0004c0004t0005g0111 a0004c0008t0001g0022 a0004c0008t0001g0039 a0004c0008t0001g0041 a0004c0008t0001g0110 a0004c0015t0001g0038 a0004c0015t0001g0107 a0004c0021t0006g0108 a0004c0021t0006g0109 a0004c0022t0001g0116 a0004c0022t0001g0117 a0004c0030t0001g0056 a0004c0032t0001g0070 a0004c0039t0001g0113 a0007c0009t0003g0011 a0007c0009t0003g0145 a0007c0011t0004g0049 a0007c0011t0004g0146 a0007c0011t0004g0147 a0007c0043t0004g0142 a0007c0044t0003g0143 a0007c0045t0003g0144 a0007c0046t0004g0148 a0012c0025t0001g0048 a0012c0028t0014g0054 a0014c0026t0001g0149 a0014c0026t0001g0150 a0017c0023t0001g0042 a0018c0047t0001g0151	65	452	0.1438	-4	c.446 others(11): Show c.446_449delTTCT	p.Phe others(5): Show p.Phe149fs	SIGLEC11	ENSG00000161640.15	transcript	ENST00000447370.6	protein_coding	2/11	540/3173	446/2097	149/698			chr19	TogoVar
SIGLEC12_chr19_51486227_51506800	51501537	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0008 a0019 a0020	a0001c0002 a0001c0003 a0001c0010 others(23): Show a0001c0002 a0001c0003 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0020 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0003c0016 a0003c0017 a0003c0025 a0003c0048 a0003c0052 a0005c0005 a0005c0029 a0005c0030 a0008c0018 a0019c0031 a0020c0040	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0010t0002 a0001c0012t0002 a0001c0014t0003 a0001c0019t0003 a0001c0020t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0048t0001 a0003c0052t0002 a0005c0005t0001 a0005c0029t0001 a0005c0030t0003 a0008c0018t0001 a0019c0031t0001 a0020c0040t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0012 others(92): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0003g0062 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0005g0032 a0001c0002t0005g0095 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0027 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0066 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0112 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0010t0002g0010 a0001c0012t0002g0028 a0001c0012t0002g0069 a0001c0012t0002g0084 a0001c0014t0003g0024 a0001c0019t0003g0035 a0001c0020t0001g0036 a0001c0032t0001g0064 a0001c0033t0001g0065 a0001c0034t0001g0111 a0001c0035t0001g0068 a0001c0036t0001g0070 a0001c0037t0001g0093 a0001c0038t0001g0108 a0001c0039t0001g0109 a0003c0016t0001g0169 a0003c0016t0005g0049 a0003c0017t0006g0048 a0003c0017t0006g0168 a0003c0025t0005g0050 a0003c0048t0001g0151 a0003c0052t0002g0170 a0005c0005t0001g0017 a0005c0005t0001g0020 a0005c0005t0001g0026 a0005c0005t0001g0056 a0005c0005t0001g0057 a0005c0005t0001g0058 a0005c0005t0001g0059 a0005c0029t0001g0054 a0005c0030t0003g0055 a0008c0018t0001g0052 a0008c0018t0001g0053 a0019c0031t0001g0060 a0020c0040t0001g0113	229	432	0.5301	1	c.196 others(4): Show c.196dupG	p.Ala others(4): Show p.Ala66fs	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	263/2269	196/1788	66/595			chr19	TogoVar
SIGLEC12_chr19_51486227_51506800	51501649	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03831.hp1 HG06807.hp2 NA18906.hp1 NA18944.hp2 NA18956.hp2 NA19002.hp1 NA19030.hp2 NA19043.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0003 a0003	a0003c0006 a0003c0007 a0003c0009 others(12): Show a0003c0006 a0003c0007 a0003c0009 a0003c0011 a0003c0013 a0003c0016 a0003c0017 a0003c0025 a0003c0026 a0003c0027 a0003c0048 a0003c0049 a0003c0050 a0003c0051 a0003c0052	a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 others(15): Show a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 a0003c0009t0002 a0003c0011t0002 a0003c0013t0001 a0003c0013t0003 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0026t0002 a0003c0027t0001 a0003c0048t0001 a0003c0049t0004 a0003c0050t0001 a0003c0051t0003 a0003c0052t0002	a0003c0006t0001g0153 a0003c0006t0001g0156 a0003c0006t0001g0157 others(29): Show a0003c0006t0001g0153 a0003c0006t0001g0156 a0003c0006t0001g0157 a0003c0006t0001g0158 a0003c0006t0001g0167 a0003c0006t0004g0015 a0003c0007t0002g0009 a0003c0007t0002g0152 a0003c0009t0002g0016 a0003c0009t0002g0159 a0003c0011t0002g0046 a0003c0011t0002g0047 a0003c0011t0002g0160 a0003c0011t0002g0166 a0003c0013t0001g0162 a0003c0013t0001g0165 a0003c0013t0003g0163 a0003c0013t0003g0164 a0003c0016t0001g0169 a0003c0016t0005g0049 a0003c0017t0006g0048 a0003c0017t0006g0168 a0003c0025t0005g0050 a0003c0026t0002g0173 a0003c0026t0002g0174 a0003c0027t0001g0171 a0003c0027t0001g0172 a0003c0048t0001g0151 a0003c0049t0004g0155 a0003c0050t0001g0154 a0003c0051t0003g0161 a0003c0052t0002g0170	53	432	0.1227	0	c.85C others(2): Show c.85C>T	p.Gln others(3): Show p.Gln29*	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	152/2269	85/1788	29/595			chr19	TogoVar
SLAIN1_chr13_77692687_77769229	77698132	T T	TGG TGG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.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 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.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 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.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 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.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 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(279): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 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 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 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 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0177 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0003g0010 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0187 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0005g0222 a0001c0001t0006g0082 a0001c0001t0007g0155 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0004t0001g0016 a0002c0002t0001g0157 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0228 a0002c0002t0002g0158 a0003c0006t0001g0052	299	300	0.9967	2	c.220 others(9): Show c.220_221dupGG	p.Leu others(4): Show p.Leu75fs	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/7	449/3009	222/1773	74/590		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77698141	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.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 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.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 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.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 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.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 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(279): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 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 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 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 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0177 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0003g0010 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0187 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0005g0222 a0001c0001t0006g0082 a0001c0001t0007g0155 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0004t0001g0016 a0002c0002t0001g0157 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0228 a0002c0002t0002g0158 a0003c0006t0001g0052	299	300	0.9967	1	c.230 others(4): Show c.230dupC	p.Leu others(4): Show p.Leu78fs	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/7	458/3009	231/1773	77/590		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC22A24_chr11_63074940_63149221	63143377	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00558.hp2 HG00597.hp2 HG00642.hp1 others(83): Show HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp1 HG02055.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18951.hp2 NA18952.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18973.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp1 NA18994.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp2 NA19056.hp2 NA19066.hp1 NA19083.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0003 a0007 a0013 others(2): Show a0003 a0007 a0013 a0017 a0018	a0003c0003 a0003c0009 a0007c0007 others(4): Show a0003c0003 a0003c0009 a0007c0007 a0007c0018 a0013c0015 a0017c0021 a0018c0019	a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 others(7): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0009t0002 a0007c0007t0002 a0007c0007t0004 a0007c0018t0002 a0013c0015t0002 a0017c0021t0002 a0018c0019t0002	a0003c0003t0002g0001 a0003c0003t0002g0002 a0003c0003t0002g0022 others(80): Show a0003c0003t0002g0001 a0003c0003t0002g0002 a0003c0003t0002g0022 a0003c0003t0002g0024 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0005g0005 a0003c0009t0002g0013 a0003c0009t0002g0014 a0003c0009t0002g0015 a0003c0009t0002g0016 a0003c0009t0002g0017 a0003c0009t0002g0018 a0003c0009t0002g0019 a0003c0009t0002g0020 a0007c0007t0002g0064 a0007c0007t0002g0065 a0007c0007t0002g0066 a0007c0007t0002g0069 a0007c0007t0002g0073 a0007c0007t0002g0074 a0007c0007t0002g0075 a0007c0007t0002g0076 a0007c0007t0002g0077 a0007c0007t0002g0078 a0007c0007t0002g0079 a0007c0007t0002g0080 a0007c0007t0002g0081 a0007c0007t0002g0082 a0007c0007t0004g0003 a0007c0007t0004g0085 a0007c0018t0002g0023 a0013c0015t0002g0011 a0013c0015t0002g0012 a0017c0021t0002g0084 a0018c0019t0002g0021	86	366	0.2350	0	c.402 others(5): Show c.402+1G>A		SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	1/9						chr11	TogoVar
SLC22A25_chr11_63153437_63248599	63228566	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01106.hp1 HG02055.hp1 HG02109.hp2 others(27): Show HG01106.hp1 HG02055.hp1 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0008 a0012	a0002c0002 a0003c0003 a0004c0005 others(4): Show a0002c0002 a0003c0003 a0004c0005 a0005c0007 a0006c0008 a0008c0017 a0012c0012	a0002c0002t0004 a0002c0002t0007 a0002c0002t0022 others(16): Show a0002c0002t0004 a0002c0002t0007 a0002c0002t0022 a0002c0002t0038 a0002c0002t0039 a0002c0002t0046 a0003c0003t0010 a0003c0003t0015 a0003c0003t0024 a0003c0003t0043 a0004c0005t0014 a0004c0005t0021 a0005c0007t0004 a0005c0007t0010 a0005c0007t0060 a0006c0008t0018 a0006c0008t0034 a0008c0017t0061 a0012c0012t0024	a0002c0002t0004g0156 a0002c0002t0007g0157 a0002c0002t0022g0303 others(25): Show a0002c0002t0004g0156 a0002c0002t0007g0157 a0002c0002t0022g0303 a0002c0002t0038g0054 a0002c0002t0039g0162 a0002c0002t0046g0304 a0003c0003t0010g0047 a0003c0003t0010g0294 a0003c0003t0010g0295 a0003c0003t0010g0298 a0003c0003t0010g0299 a0003c0003t0015g0291 a0003c0003t0015g0292 a0003c0003t0015g0293 a0003c0003t0024g0296 a0003c0003t0043g0297 a0004c0005t0014g0004 a0004c0005t0021g0172 a0004c0005t0021g0173 a0005c0007t0004g0166 a0005c0007t0004g0167 a0005c0007t0010g0168 a0005c0007t0060g0170 a0006c0008t0018g0159 a0006c0008t0018g0160 a0006c0008t0034g0158 a0008c0017t0061g0169 a0012c0012t0024g0165	30	344	0.0872	0	c.403 others(5): Show c.403-2A>G		SLC22A25	ENSG00000196600.13	transcript	ENST00000306494.11	protein_coding	4/11						chr11	TogoVar
SLC22A31_chr16_89190761_89205537	89196258	GCCTGGCC others(74): Show GCCTGGCCCAGGAACCCGGCCCCCAGCACCAGGCCCAGCCCGGCCCCCCT GTGGGACAGAGTGTGTTGGGGGCAGCCAGCCT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0006 others(4): Show a0002 a0005 a0006 a0010 a0011 a0013 a0018	a0002c0002 a0002c0004 a0002c0007 others(9): Show a0002c0002 a0002c0004 a0002c0007 a0002c0017 a0002c0021 a0005c0008 a0006c0011 a0006c0023 a0010c0016 a0011c0019 a0013c0020 a0018c0024	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0007t0001 a0002c0017t0001 a0002c0021t0001 a0005c0008t0001 a0006c0011t0001 a0006c0023t0001 a0010c0016t0001 a0011c0019t0001 a0013c0020t0001 a0018c0024t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0022 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0002g0039 a0002c0004t0001g0005 a0002c0004t0001g0012 a0002c0004t0001g0027 a0002c0004t0001g0032 a0002c0004t0001g0066 a0002c0004t0001g0067 a0002c0004t0001g0070 a0002c0004t0001g0072 a0002c0007t0001g0007 a0002c0007t0001g0071 a0002c0017t0001g0069 a0002c0021t0001g0038 a0005c0008t0001g0009 a0005c0008t0001g0019 a0005c0008t0001g0059 a0006c0011t0001g0030 a0006c0011t0001g0063 a0006c0023t0001g0064 a0010c0016t0001g0031 a0011c0019t0001g0073 a0013c0020t0001g0037 a0018c0024t0001g0074	173	428	0.4042	-81	c.103 others(93): Show c.1035-34_1081delAGGCTGGCTGCCCCCAACACACTCTGTCCCACA GGGGGGCCGGGCTGGGCCTGGTGCTGGGGGCCGGGTTCCTGGGCCAGG	p.Arg others(5): Show p.Arg345fs	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding	9/9	1117/1615	1035/1341	345/446			chr16	TogoVar

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