Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
OR51F1_chr11_4763979_4774938	4769643	CG CG	C C	frameshift_variant frameshift_variant	HIGH	HG00639.hp1 HG00735.hp2 HG00738.hp2 others(62): Show HG00639.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG02004.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG03710.hp2 HG03834.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0005 others(8): Show a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0011 a0002c0013 a0002c0014 a0002c0016 a0002c0017 a0002c0018	a0002c0003t0001 a0002c0004t0001 a0002c0005t0001 others(8): Show a0002c0003t0001 a0002c0004t0001 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0011t0001 a0002c0013t0001 a0002c0014t0001 a0002c0016t0001 a0002c0017t0001 a0002c0018t0001	a0002c0003t0001g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 others(8): Show a0002c0003t0001g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000 a0002c0011t0001g0000 a0002c0013t0001g0000 a0002c0014t0001g0000 a0002c0016t0001g0000 a0002c0017t0001g0000 a0002c0018t0001g0000	65	340	0.1912	-1	c.295 others(4): Show c.295delC	p.Arg others(4): Show p.Arg99fs	OR51F1	ENSG00000280021.3	transcript	ENST00000624103.2	protein_coding	1/1	295/960	295/960	99/319			chr11	TogoVar
OR51I2_chr11_5444323_5461518	5454410	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01109.hp2 HG01884.hp2 others(22): Show HG00642.hp2 HG01109.hp2 HG01884.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp1	a0006 a0009 a0006 a0009	a0006c0006 a0009c0011 a0006c0006 a0009c0011	a0006c0006t0005 a0006c0006t0017 a0006c0006t0023 others(2): Show a0006c0006t0005 a0006c0006t0017 a0006c0006t0023 a0006c0006t0043 a0009c0011t0024	a0006c0006t0005g0011 a0006c0006t0005g0017 a0006c0006t0005g0030 others(5): Show a0006c0006t0005g0011 a0006c0006t0005g0017 a0006c0006t0005g0030 a0006c0006t0005g0126 a0006c0006t0017g0011 a0006c0006t0023g0064 a0006c0006t0043g0048 a0009c0011t0024g0047	25	480	0.0521	-1	c.923 others(4): Show c.923delA	p.His others(5): Show p.His308fs	OR51I2	ENSG00000187918.6	transcript	ENST00000641930.1	protein_coding	2/2	1195/3302	923/939	308/312			chr11	TogoVar
OR52A1_chr11_5141824_5159757	5151565	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02148.hp1 HG02280.hp2 HG02293.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18947.hp1 NA18972.hp2 NA18975.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19077.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 others(10): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0029 a0002c0002t0034 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0041 a0002c0002t0063	a0002c0002t0002g0014 a0002c0002t0003g0003 a0002c0002t0003g0017 others(17): Show a0002c0002t0002g0014 a0002c0002t0003g0003 a0002c0002t0003g0017 a0002c0002t0003g0048 a0002c0002t0003g0054 a0002c0002t0003g0079 a0002c0002t0010g0026 a0002c0002t0010g0072 a0002c0002t0011g0022 a0002c0002t0011g0077 a0002c0002t0012g0023 a0002c0002t0012g0078 a0002c0002t0014g0019 a0002c0002t0029g0070 a0002c0002t0034g0098 a0002c0002t0036g0073 a0002c0002t0037g0074 a0002c0002t0038g0075 a0002c0002t0041g0076 a0002c0002t0063g0101	65	436	0.1491	1	c.804 others(4): Show c.804dupG	p.Ser others(5): Show p.Ser269fs	OR52A1	ENSG00000182070.7	transcript	ENST00000380367.3	protein_coding	2/2	1436/6178	804/939	268/312			chr11	TogoVar
OR52B4_chr11_4362263_4373386	4368174	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(170): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02738.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0000 a0002c0002t0004g0000 a0002c0002t0001g0000 a0002c0002t0004g0000	173	464	0.3728	-1	c.121 others(4): Show c.121delC	p.Leu others(4): Show p.Leu41fs	OR52B4	ENSG00000221996.6	transcript	ENST00000624801.3	protein_coding	1/1	212/1124	121/945	41/314			chr11	TogoVar
OR52E8_chr11_5851749_5862690	5852754	ATTTTCTT others(9502): Show ATTTTCTTTATCCACTCCACCACTGATGGGCACTTAGGTTGATTCTATGT CTTTGCTATTGTGAACAGCACAGTGATGAACATATGAGTGTTTGTGTATT TTTGGTATAATGAGCTATATTCCTTTGGGTATATATCCAGTAGTAGGACC ACCAGGTTAAATGGTAGCTCTGTTTGAAGAAAACTATCTCTCTTTGCAGA TGATATGATTCTATACATAGAAAACCCTTAAGGTTCTGACAAAAGGGTGC TAGAACTGAGAACCCATTTTATCAGGGTTCCAGGATATAAAATCCATATA CAAAAATCAGTAGCATTTCTATATAAAAATAATGTTCAGACTGAGAATCA AATCAAGAACACAATCCCAATTACAATAGCCACAAACAAAATGAAATACC TAGGAATACAGTTAACCAAGGAGGTGGAAGATGTCTACAATAGGAATTAC AAAACAGCATGGAAGAAAATCAGAAGCAAAACAAATCAATGAAAAAAGAT CCTATGCTCTCATGCTAGATTGGAAAAATGGATTGGAAAAATCAATATCA TCAAAATGACCCTACTGCCCAAAGCAATTTATAGATTCAACATTATTCCT ATCAAAATACAAATGGCATTTCTCATAGAATTAGAAAACTATTCTAAAAT TCATATGGAATCAAAAATGAACCCAAATAGACAAACCAATCTTAAGCAAT AAGAACAAAACTGGAGGTGTCACACCACTTCAAACTATACTATGAGGCTA CAGTAATCAAAACAGCATGGCACTGGTATAAAGCAGATACAAAGGACAAC GGAACAAACTAGAAAACTCAGAAATAAAGCTGCCATGTACAACCACCTGA TTTTTGACAGGGCCAACAAAATGAGGAGTGGGGAAAGAATTCCTTATTCA ATAAATGGTGCTCAGATACCTAGTTTGTATTTATTTCCATAAGTAGAGGA ATAAAACTAGATCCTTACCTTTCACTGTGTGTAAAAATTAACTCAAGATG AATTAAAGATTCATGGTAAGACCTCAAACCATAAAAGTTCTAGACAAAAA GCTAGAAAATACTCTTCTCAACATTGGCCTTGGCAAAGAATTTTTGGGTA AGTCCCAAAAAGCTATTGCAACAAAAATAAAAATTGACAAGTGGGACCTA ATTAAAATAAAAAATTTCTGCACAGCAAAAGAAACTATCAACAGAGCAAA CAGACAACCTAAGGAAAGGGAGAAAATCTCTGAAAACTAAGCATCTGATG AAAGTCTAGTATCCAGATTCCACAGGAAATTTAAACAAATCAATAAGTAA CAAATAATCCCATTAAAAAATGGGCAGAGGACATAAACAGACACTTCGCA AAAGAAGGCATAAAAGAGACAAACAAACATATGAAAAATGCTCAGCATCA CCAATCATCAGAGAAAACAAATCAAAACCACAATGAGATACCATCTCATA CCAGTCAAAATGGCTATTATTAAAAAATCAAAAACCTGGAGAGGCTTCAG AGAAAACGGAATGCTTATACACTGTTGGTGAGAATGTAAATTATTTCAGG CACTGTGGAAAGATTTCCCAAGGAGCTCCTGGTTTTTGAACATTCATTTT CTATCCTGAAACCTTACTGAATTTATTTATCAAATCTAAGAGTATTTTGG AGGAGTCATTAAAATTTTCTAAACATAACATTATATTATTAGCAAACAGA GAATTTGACTTCCTCTTTTCCAATTTTGATGCCTTTTATTTCTTTCTCTT GCCTGTTTGCTCTGAATAGTGCTTTCAGTAGTGTGTTGAAAGGAAGACTA AAAGTGGGCATCTTGTCTTGTTCTGGTTTGTAGGGAGAATGTTTTCAACT TTTACCCATTCAATATGATATTGGCTGAGTTTGTTATATATGGATCTTAC TATTTGGAGAAAGGTTCCTGCAATGCCTATTTTGTTGAAAGTTTTTATCT TGAAGGGACGCTGAATTTTATGTAATATTCTCTACATCTATTGAGATGAT CATGTTTTTTGTTTTTAATTCTCCTTATATGGTGAATCACATTTATTGAT TTGTGTATCTTGAGCCATCCTTGCGTCCCTGGAATAAAATCTAGAAAAAG TCTTGCCTATCACTATTTAGAAAGTGCTGGTTCAATCAATACATTCAAAC TGATATATCCAATTATTCAATCCATACTGGTAAATTAAATTGCCTTCTAT CATTTCCTTTCTATGAACATATAAACACAAACACATACACATTTTTAAAT GATTAAAACTATTTATCCAGACACAGGAAGACAAAGCAAACCCAGGAAAG ATACAGAAACAACAGAAAAATGAATATATATTTTGTTTATCTGGGAGATT TCTCTGAAAGTGATTGTAAAAGAATACGTATCTACCATTTCACTCTTATA ATCCTTTTAAATTTCATCCAGAATATCTCACTTTCTCTCTACCCATATTC CTTGGTGCTGCTTCTCTCCTCCCTAGTTGCTCCTACTCCCTCAGTCCTGA GCCCTACCTAAATTTTTCCGGCCCTACCTTGTCTACTGAGATGTCTTTAG AATACACTCAACTGTCTTGCCATGGCCAGAGAATCTTCTCCAAGAAAGAA ACCATCAAGTACTTCCACAGCCTTCCATCCTACATTCTACCAGTAAACAC CTGCCCAGTTGCAGGGCTGTGACCCTGAGGAGGAAAGATTTATACGACAA GTAGAACCTCGCCTGAAGCCAAGAGAGGGAGATCCTCCATGTCATCACTC TCTGGAATCTCCCATAAGAAAATGGTAGACTCTGGTCCTAAACCCTTAAT TTCCACAGAGCGCATTCTGCTCCTATCTGTTCACCCAGTGATTGACCTAA GGGCTGCTTTCTATAGGAGATCATTGAATCACAGCTAAATTTAAGTGTCT TTGCTTTATAGTCTGCACATGCCACTTGTTGTGGTCTACTGCCTAATCCT ATATCTTAACTGTATAAATGGCAGGCAGAGCAGCAATAAAGAACTTACAT TCAAGGTGTTCTTCCTGCAATTATCTTCCTCCAAGTTTTTTAAGGGATTA TAAATTTCATTATGAATGAAACTGCTAATAGCCACACAATTTCCAAATCT CCTGAAGAAAAAAAAAATATGTCTCAACACTACTTTAGAAACAACTTATT ATTTCTTTTTTCTCAAAGTATATAAGTACTTAAAGACAATACACTGTGTC TTCGAATGTTCCTACAGCTCATAAACCCACACATGAAACATAGTAGAAGT ATGCACACGCACACGCACATATATTCATATATGTAAAAATATATTATGTA AATATTATTTAAATAATTAAACAAGCAAATGAATGAAATATTTACGAATG TATATGTCATGCTCATGCTGCATTATTTCCTTTTTCCTTTAATATCTAAT TTTATGACTATGCTTGCATCTCTAGGTGCATGAGGGAAATTATAGTAACT ATTGAATAAGATTATGGTGGGCATGATATGAGTATATTCATGTGTGGTAT ACCTGTCAATACCCATATATCTACACTGCATCTATGGTATGTTAATATTA TTACTAGAGTAAGCTATTATTATTATTTTAAGAATTCTAGAAGCCACTTA TTCTGTTTATTATCTTTTTAAAGTAAGAATTTTATTCCGTATTCTGTTAT TTCTTAAACATACTAAAGAAAACTATAAGGCAGTCTATTTGGCTTAAATT ACTACTTCCTATTAAACATGTAGTTTGAGTAAATCACTCAACTTTTCCGA ACATAAGTATATTAATCACAAGAATGGAAAAACTAATACATACTTTATAA AACTGCCTTGAGGATCCAGCAATAGAAATAAAAGAACTTGGAAAAGGAGA GTTCGACAAGGGTAAAATTCTCATTATTATAATTAAAGTCAAAAGCTTCA GTTAACAGATAAATAATGTTATTGGCTGCAGCATTCCCTTCTGTTTTTCT GCTTTCTATTAGGTTAGAGTGACAGACTCTCCAACCTCCAACTGGTTAGT GATTGGTCTTGAGAAAAATCCTCAGCACTCTCTCTCGAATCTGCTTTGTC CTGACTCCATAGATTACAGGATTGAGGGCTGGTGGGACAACCACATACAG GTTGGCTAATATAATATGTATATACTGTGGGATATTATGGCCAAAACGAT GTGTCAAGAATGAAAAAAATGCTGGTGTAAAAAAGGCTAAGATAACACCA ATATGAGAACCACAGGTGTTGAGAGCTTTGAGTCGAGCTTCCCAGGAGGG CAGGCAGAAGACAGCATACAGGATCCTGACATAGGAGAGAATAATAAGGA TAACATCCAGTAACAAGAGAGATATGTTGCCAAGGCCAAACCTAATGTTG ACTTTGATGCTGGCACAGGCCAGACGGGCAATGCCCATGTGCTCACAATA AGTATGAGGGATGATACGATGCCCACAGAAGGGCAGCCTCAGAAGGAGAA ACACCAGTGGAACAACCATGTACAGGCTCCTCAGGACAGCAATGCCTGCA ATGAGGCTGATGATTTTGCTGGTGAGGATCATGGTGTACCGAAGAGGTTT GCAAATGGCAATGTAGCGGTCAAAGGCCATGGCCACCAACACAATGCTCT CCATAGCAGTGAAGAAATGGATGAAGAACATGTGAGAAAGGCAGCCTCCA AAAGATATTTCTTTGGTATTGAACCAGAAGATGCCCAACATTTTGGGGAT GGTGGCTGTAGACAAGCCCAGGTCAATGGAATCCAACATGGCCAGGAAGT AGTACATAGGCTCATGGAGACTCTGCTCAGTCTGGATCACAAACAAGAGA GCAGTGTTTCCCAGGAGTGCAACAAGATACACAAAGAAAAAAGGGACTCC AATCCAAATGTGCACATCTTCTAGCCCTGGGATACCCAGCAGTAGGAATG AAGAAGGATGGAACTGGGTGTGATTAGACGTAGACATTCTTCCTGCCATA TAAAGCTGCTGGGCACACCAGCGACGATTATAATATTCCTATTAGTAATT CTTGTTCCACTTCTTCTTTTGTTCAGATTTCTAGTCAAATTCACAATAAC ATATTAATCTTTCTTTATATATATTCATGAGTAAGGTAAAATACTCTCCA CAATTTCTCCTAGCCTCTCCTGAGCAACATTGGTACCAGGAATAGAACCA GTCTTATTCTACTGCCCCTTCACCTAATATCAAAGACTAATATAAAAAGA AATGGCAGAAGAATGTCATCTGCCAAATAAAAATGCAAAATCTGGAATTT AGCCAGAACTAAATGAGAAAAATAAAGTTCCAGGGTCAGTGTCTATAGAA ATGTTACACATATTTTTGCTTCACGATCAAGGTATTTGTAATCTCAACTA TTCCTCTATTTGGGAATCAAAAATGTAGTGTGTAAAACCGTTTCTGTGTT GTTATGCATTTTTACAGGTATTTGTGACTACTAGACTGTATACTTCTATA TACAATTTAGACTATACTGTATACAATTTGGGACTACTAGACTGTATACT TCTGTATACAATTTAGGCTGTATATACTGTATACAGTTTGTGACTACTAG ACTGTATACTTCTGTATACAATTTAGACTGTGTATACTGTATACAATTTG TGACTACTAGACTGTATACTTCTGAGAGAAGAAACAATTTATCTTGCTCA TATGCAGGAAAAAGATCTGCTACATAATAGTTCTCAATTTAAAACCTCCA CAAATAGACATTGATTACAAGGAGGCAAAACTGTGGGTAATTTTAATGTC ATATTTTAGGAAATAAATAATTTAGTTTCCATCACACCTGTGTTTGAGAA AAGAAGCTTATCCATCGGATTTGGAAAATGGGTAAAAACAAGGAAAAGAA AATACTTGACAAAGAGTATTTTGCAGCTATGATGGAACATGGATGAAGAG ATAATTTTAATCTAGATAATCCTATTATTTGGAGAGTGCATAAATACACG CATTCAGTAAAGAAACTGTTTATATATAGGCCAGCTTTTTCTGTGGCAAG GAAACTAAATATTCTGGGCTACAAAATTTTCAAATATATCTCAGTCTTAT ATTCATGGGAAGAAAGTAGAAGCCCTTTGGATGACCTACAGTTTAGCTGC TACTCAAATTCTATCCCAGCTGTTTTGTCTCTATGGATGTCTCCAATATA GTAAATCCTGAATTTACAGATAGTAAATCCTGAATTTACGGATAGTAAAT CCTGAATTTACAGATAGTAAATTCAAAATTTGAAGCAAAAAGTTCATTAC TGCGCAACTTACTTTTACTTGGGAAAAACTAGTTTTACAGATAATGCGGA ATTGGTTAAATGTGACGTGGCAACTACACAAAAAGCATTGATTACAATTT AAGAATACTTGAACATTGGGGGAAGTCAGAATTGAGACGTACGCAGCAGA GATAAAAGTGTGTGAATGTCAGCAAGTTCTACTTTAATCCTGTAACAACA AAAATGCATTGCTGGTAGTACCTATTTGAAGCATACGAAGAATAGCAAAA ATGAGAGATTATTTGATAATTTGGGAAATTATTTCAGAGAGAGAGAGAGA GAGAGAATGTGTGTGTATAAACTTGGGTGAAACTATCAGAGATAAGGGTA TAAACTTCCTGTTTTTCACTAATTGAGAATACACAAAATAGGCAGCGAAA TACCTTTCACAATTTATCCCATCAAATATTGAAGAGGTTCTCTATGTATC AGTGGTAATTAGGAAGTTTAAATACAAAAAATGAATAAAACTGGTCATAT ATCCTTAAGGAAATCACCACGTAGTAAAGAAGATAAAATTCCAAACATGA AATTTAAGAACTGTACTGCAAGTGCTATGGTAGAAATGTGCACAGGATGT TTTAAATGTAGAGGTGAGTCAAGAAAAATTGTATAGAGGAAGTTAGGCTT ATGCTGACTTACAGAGAAATTCTTCTGACAAAAAAGAAAGAAAATTTTAT TCTGTATAAATAAGCAGGGGCAAAGTGGGAAAAAAAGCACAGTGGCCACT TAGGATATAAAAATGAAATCAGTCATCCTCTTCAATGGTCTTATCCAGAG ATTCTTATTAAGTCTGATGTCTTGGTCATGTTTAGGGGCTCCATACAGCA TGAACTGAAAAAATAAAAATATGGCTACATTCCAAGGATAGCAACTTATC CCATGTATCTCTGTGGATTTTAAAAGAAGATTTGGAAATTAATGCTTCCC TTCTCCCTAGGACAACATCATTTCCAAGTTTATAAATACTGATCAAAGCA ACCAATCAATTAATTATCCAATAAATGTTTACTTAACCATTATTTCAACA CATATTTACATATCTTCCAATCTCTGCTGGATTTAAAAATAAAATTGGTT CTCAGCCCCTGTTTTGACTCCCTAACTCTAAGGTCCTACATGGAATTATA TCCAGCTATCCAGCAGCCACGTCCTCAGTGTGTCATCTTCTTAATCTACC CTATTGCACCAACCTCCACCACACCCTACCTATCCATATTCCCACATCCT GGAACAGATGAGCATAAGTAAAAGAGATAATGTACACCTGTTTTCTCATC TTTATCTAATCTCACAGTCTCATGACCAGCCTGCTATCATGTAACCTTAT TCCATTTCTCAGATGTTTTATCACTCTAGCTCTGAGTCTATGTTCATAAA AGTCTATTCCTCAGGGCCATGCTTCTTCCTGATTCATTTATTTATAAATT AATTTAAAAACATATTTTTAAAATTTGTATTTTTAATTTTTGTGGGTACA TATCATAGATATATATATTTATGGGTACATGAGATGTTTTGATACAAGCA TGCAATGTGAAATAAGCACATCATGGAGAATGGGGTATCCATCCCCTCAA GCATCTATCCTTTGAGTTACAAACAATCCAAATGCACTCTTAGTTATTTT AAAATGTATAATTATTACTGACTATCTTCACTCTGTTATGCTATCAAATA CTAGGTCTTATTCATTCTTTCTATTTTTTGTACCCATTAACCATCCCACC TCCCCCCAGTCCCCCACTACCATTCCCAGCTTCTGGTAACCATCATTCTA TCTTCACCTATGCTATATTTTGTATGTTCTAGAAAATACAGAGAGCTAGT CTTGCTCTTTTGCTGTTCACATGTGTACATATATATATAGAGTCAGAAAT AATAGCTAAAGAGATATGGGATATATTGGTACAATTTCTTCCTCATCAGC TTTCACACTTTACTTTTGCATCTGAGACTTTGCATGGTCATATGTGTGTG TAGGCAAAAATACAGTTTGAGGTGTTTATCAGTATGAGTGTGTATTCACT CTTCATCTTGTCATACTTTCACCTTTCCTGCATCTCTCCATACTAGCTTG CCATGAGCTCTTTCTCCATCCCTCCTGGTATTTTTCACAGCCTAACCATG ATATAACTTACCTTAGTCTCAAAATCTCTACAAAACATCCCTTGGCATAT TCTTGGGGTACACCATTTATTATGCCAATAGGAGATATTTATACTGTTCT TGTAGCCCCACTTCCCCTGGGATGGGTACCATAGTATCTTGGAGGCGTTG ATGTAGTATAGTTAATAGACTCTGGAGAATTCCTCTTCTCAATCTCTTCC TCCTTATACTGAAACAATATGGCAAGAGTTTATCATTGTTCTCTTGTTTT TCCCAAATTTTATATTCATTTACTGACACTGACAGAATATGTTTAATTTC TCACTTCAAAATTAAATTGCCAAACTCTTGGTAAACACTTGGGATTTTGT CTTTATTCTTCTATCACATCTTCTTCAGTTAGTTCCCTGACTCTCTCTTC TTCAAATTTCTCTTTCTAGTCCTAATAAAATATTTTATTTTCTCATTTTA AAACCCCCTTGATAGAATTTTTCATGAAATCAATATCTCATCATCTATTC CATTGTACTTTTCTTTATCAATTCATCCACCAATGGACATTTGATGGCAA CTCTCTGGAAATCTCTTCTACAGTGTGCATATCTATTTGACACCACTCAA AGCTTAGTCTTTGTGAACAAGATTTTTGTTGGGCTATGAGTCAAATACAA TCAGCAGAAATTGTTTAACATCACAGATTTCTGAAGCAGGAATAACAGTG GGAACTAACAAAAGGCTATCCGAAAAATTTAAAAGAAAAAATTGGGGAAT GAATTGATCATAGGGGATTTTTCAAAGCTCTGAAATGTTCCTGAGAAGCT AAAACACACCACATGCGTACATGATTATGAAAATATCCAGAAAAGACTTG AGAAGGCCCTAATCTGTCATCTCTGGTAAAATAATATTAAAATATAGAAT GCAAGTTATACTACAAGAAAATGCCTAGTACATTCAAGATGTCATACAGA CACACATACATAGACATAAACCTAGTGGGATTTTTGTTATGTTGTAGAAT ATAAACATTTTAATAGCAAAACCCAGAAAATTCCTCATATAAAGGGCATT TATGAAAAACCCGTGGCTGACATCATACTCAGTGGTGAATATCCAAAGGG ATAATTAAGC	A A	transcript_ablation transcript_ablation	HIGH	HG00639.hp2 HG02257.hp1 HG02486.hp2 others(9): Show HG00639.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG03486.hp2 HG03579.hp1 NA18906.hp1	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0000 a0002c0000t0000	a0002c0000t0000g0000 a0002c0000t0000g0000	12	434	0.0276	-9509	c.-45 others(11): Show c.-4573_*3994del	p.0? p.0?	OR52E8	ENSG00000183269.6	transcript	ENST00000537935.2	protein_coding	1/1						chr11	TogoVar
OR56B2P_chr11_5756153_5774080	5765197	G G	A A	stop_gained stop_gained	HIGH	HG00639.hp2 HG01891.hp1 HG02622.hp2 others(14): Show HG00639.hp2 HG01891.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02965.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0024 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025	17	432	0.0394	0	c.99G others(2): Show c.99G>A	p.Trp others(3): Show p.Trp33*	OR56B2P	ENSG00000181017.7	transcript	ENST00000641377.2	protein_coding	2/2	185/4068	99/951	33/316			chr11	TogoVar
OR5D16_chr11_55833752_55844738	55839334	TATCTC TATCTC	T T	frameshift_variant frameshift_variant	HIGH	HG01243.hp2 HG01884.hp1 HG02257.hp1 others(9): Show HG01243.hp2 HG01884.hp1 HG02257.hp1 HG02559.hp2 HG02630.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03540.hp2 HG06807.hp2 NA19240.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	12	420	0.0286	-5	c.585 others(12): Show c.585_589delTCTCA	p.Tyr others(5): Show p.Tyr195fs	OR5D16	ENSG00000205029.1	transcript	ENST00000378396.1	protein_coding	1/1	585/987	585/987	195/328		INFO_REALIGN_3_PRIME	chr11	TogoVar
OR5K4_chr3_98348854_98359819	98354747	TA TA	T T	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp2 NA18959.hp1 NA18970.hp2 NA18979.hp2 NA18998.hp2 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp2 NA19084.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0009 a0002c0002 a0007c0009	a0002c0002t0001 a0007c0009t0001 a0002c0002t0001 a0007c0009t0001	a0002c0002t0001g0000 a0007c0009t0001g0000 a0002c0002t0001g0000 a0007c0009t0001g0000	103	450	0.2289	-1	c.901 others(4): Show c.901delA	p.Ile others(5): Show p.Ile301fs	OR5K4	ENSG00000196098.2	transcript	ENST00000354924.2	protein_coding	1/1	901/966	901/966	301/321		INFO_REALIGN_3_PRIME	chr3	TogoVar
OR5P3_chr11_7819818_7835840	7825116	TTCAACAT others(908): Show TTCAACATGGGAATCACCACGGTGTAGAACACAGACACCACCTTGTTCTG GTCAGTTGAGTAGCTGGACTTGGGCATCACATAAATGAAGGTAATGGTCC CATAGAACAGAGTGACTGCAGTGAGGTGGGAGGTGCAGGTGGAGAAGGCC TTGTGGCGGCCCTTGGTGGAGTGCATCTTCAGGATGGTGATGAGGATATA GATGTAGGATATGGCTATGACACACACAGTGGCCACAATGATAGATCCAG AAGAGATAGCTGGAATTATTTCAAAAGTAAAATCATGGGAACAAGCAAGC TTCAAAAGTGGTGAATAGTCACAGAAAAAGTGATTGACTTTATTTGGCCC ACAGAAGGACAGTCTTAATAAGCAGCCAATGAATGTCCAAGCATTCACAC ATCCACCCAGGTAGGACATGCCCACTAAGATGATGCAGACTCCAGGGGAC ATGCAGGTAGAGTAGAGCAGGGGTGAGCAGATGGCCACATAGCGATCATA GGCCATGGCAGCCAGCAGGAAGCACTCGGCCGTACCAAACGTCACTACAG AACAGAGCTGGGCCACACAACCAGCAACAGGGAGAGAGGTTTCTTTCCTT AGGAAGCTCATGAGCATGACAGGTGTGACTGATGAGGAGTACCCAATGTC TACAAAGGCCAAATGGCAGAGGAAAATGTACATGGGTGTATGAAGATGAT GACTTCTTCTGATCAATACAATTATGCTGATATTACCCATTAAGGTGACA ACATAAATTCCTAGAAACACAAGAAATAAAATAGCACAAACTGTAGTATC CTCAGATAACCCCAAAAGAGTAAACTCTACCACAGTGGTGTCATTTCCAG TCCCCATCTATATTGGGAATGGTGCCAACTGAAAGAAAAACAAATGAATA TTATAATGGGATTAAA	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG02572.hp2 HG02630.hp2 HG02647.hp2 others(9): Show HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0007 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0007 a0003c0003t0003g0025 a0003c0003t0003g0026	12	422	0.0284	-915	c.-21 others(10): Show c.-21-38_856del	p.Met others(3): Show p.Met1fs	OR5P3	ENSG00000182334.3	transcript	ENST00000641167.1	protein_coding	2/2	894/1193	1/936	1/311			chr11	TogoVar
OR5T3_chr11_56247254_56258222	56252727	T T	TGCTTCCT others(9): Show TGCTTCCTACGTTGCTG	frameshift_variant frameshift_variant	HIGH	HG01496.hp2 HG01891.hp2 HG02630.hp1 others(1): Show HG01496.hp2 HG01891.hp2 HG02630.hp1 HG02965.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0000 a0007c0008t0001g0000	4	370	0.0108	16	c.477 others(23): Show c.477_492dupTTCCTACGTTGCTGGC	p.Ile others(5): Show p.Ile165fs	OR5T3	ENSG00000172489.7	transcript	ENST00000313033.4	protein_coding	1/1	493/969	493/969	165/322		INFO_REALIGN_3_PRIME	chr11	TogoVar
OR6C4_chr12_55544602_55560832	55551800	CTCTT CTCTT	C C	frameshift_variant frameshift_variant	HIGH	HG01167.hp2 HG01169.hp2 HG01884.hp1 others(16): Show HG01167.hp2 HG01169.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02572.hp2 HG02630.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0004c0007 others(1): Show a0003c0003 a0004c0004 a0004c0007 a0004c0014	a0003c0003t0007 a0003c0003t0015 a0003c0003t0016 others(4): Show a0003c0003t0007 a0003c0003t0015 a0003c0003t0016 a0004c0004t0007 a0004c0004t0014 a0004c0007t0007 a0004c0014t0014	a0003c0003t0007g0001 a0003c0003t0015g0002 a0003c0003t0015g0007 others(5): Show a0003c0003t0007g0001 a0003c0003t0015g0002 a0003c0003t0015g0007 a0003c0003t0016g0002 a0004c0004t0007g0001 a0004c0004t0014g0001 a0004c0007t0007g0001 a0004c0014t0014g0001	19	420	0.0452	-4	c.575 others(11): Show c.575_578delTCTT	p.Leu others(5): Show p.Leu192fs	OR6C4	ENSG00000179626.4	transcript	ENST00000641569.1	protein_coding	2/2	1110/5141	575/930	192/309			chr12	TogoVar
OR6Q1_chr11_58025953_58036906	58031636	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00741.hp2 others(25): Show HG00099.hp1 HG00099.hp2 HG00741.hp2 HG01069.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG02258.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG03098.hp1 HG03579.hp1 HG03654.hp2 HG04184.hp1 NA18747.hp2 NA18977.hp2 NA19063.hp1 NA19065.hp2 NA19067.hp2 NA19090.hp1 NA21309.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	28	414	0.0676	-1	c.685 others(4): Show c.685delC	p.Leu others(5): Show p.Leu229fs	OR6Q1	ENSG00000279051.5	transcript	ENST00000302622.4	protein_coding	1/1	685/954	685/954	229/317			chr11	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	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0007	a0002c0002 a0002c0014 a0003c0003 others(3): Show a0002c0002 a0002c0014 a0003c0003 a0004c0004 a0005c0006 a0007c0007	a0002c0002t0001 a0002c0014t0001 a0003c0003t0001 others(3): Show a0002c0002t0001 a0002c0014t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0007c0007t0001	a0002c0002t0001g0000 a0002c0014t0001g0000 a0003c0003t0001g0000 others(3): Show a0002c0002t0001g0000 a0002c0014t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000 a0005c0006t0001g0000 a0007c0007t0001g0000	177	400	0.4425	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	9126293	G G	A A	stop_gained stop_gained	HIGH	HG00673.hp2 HG01884.hp2 HG02145.hp2 others(12): Show HG00673.hp2 HG01884.hp2 HG02145.hp2 HG02630.hp1 HG02630.hp2 HG03130.hp2 NA18906.hp2 NA18957.hp2 NA18962.hp1 NA18968.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp1 NA18997.hp2 NA19003.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0001 a0005c0006t0001 a0004c0004t0001 a0005c0006t0001	a0004c0004t0001g0000 a0005c0006t0001g0000 a0004c0004t0001g0000 a0005c0006t0001g0000	15	400	0.0375	0	c.658 others(3): Show c.658C>T	p.Arg others(4): Show p.Arg220*	OR7G3	ENSG00000170920.2	transcript	ENST00000305444.2	protein_coding	1/1	658/939	658/939	220/312			chr19	TogoVar
OR8H3_chr11_56117373_56128311	56122412	ATCCTTAC others(3): Show ATCCTTACGGG	A A	frameshift_variant frameshift_variant	HIGH	HG02630.hp2 HG02630.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0000 a0010c0012t0001g0000	1	414	0.0024	-10	c.41_ others(15): Show c.41_50delTCCTTACGGG	p.Ile others(4): Show p.Ile14fs	OR8H3	ENSG00000181761.5	transcript	ENST00000313472.3	protein_coding	1/1	41/939	41/939	14/312			chr11	TogoVar
OR8H3_chr11_56117373_56128311	56122428	C C	G G	stop_gained stop_gained	HIGH	HG02630.hp2 HG02630.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0000 a0010c0012t0001g0000	1	414	0.0024	0	c.56C others(2): Show c.56C>G	p.Ser others(3): Show p.Ser19*	OR8H3	ENSG00000181761.5	transcript	ENST00000313472.3	protein_coding	1/1	56/939	56/939	19/312			chr11	TogoVar
OR8H3_chr11_56117373_56128311	56122439	G G	T T	stop_gained stop_gained	HIGH	HG02630.hp2 HG02630.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0000 a0010c0012t0001g0000	1	414	0.0024	0	c.67G others(2): Show c.67G>T	p.Glu others(3): Show p.Glu23*	OR8H3	ENSG00000181761.5	transcript	ENST00000313472.3	protein_coding	1/1	67/939	67/939	23/312			chr11	TogoVar
OR8K1_chr11_56341039_56351998	56346040	T T	C C	start_lost start_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): 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	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0001g0000 others(8): Show a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0001g0000 a0001c0005t0001g0000 a0001c0006t0001g0000 a0001c0007t0001g0000 a0001c0008t0001g0000 a0001c0009t0001g0000 a0001c0010t0001g0000 a0001c0011t0001g0000 a0001c0012t0001g0000	350	436	0.8028	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(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 TTAATTAGAGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGC TGAATTTATGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTT TTATTTCCTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAG AAATTTAATTTCTGATGTGTTAAATATGTACACACACAAACAGACACACA GACATGCATTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACT TATCACCATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACAT ACATACATACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTAT TATCATAATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGA AATATACAATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGT AGACTATATATACACAGACATATGACTATATCAATAATATGATGATACAT CAATAAATAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCG TGTATTTCTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGA AAGACATTCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTA TCTTAATCTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATAT AATTTGACTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAG TTTGGACATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCAT GTGTTAAACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATTT TTCGCTGTCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTT CTTGGTGTTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGT TAATGCTTTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGT ATTTTTCCCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTT 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	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0001 a0002c0034t0001	a0002c0034t0001g0000 a0002c0034t0001g0000	1	43	0.0233	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 AGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGCTGAATTTA TGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTTTTATTTCC TTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAGAAATTTAA TTTCTGATGTGTTAAATATGTACACACACAAACAGACACACAGACATGCA TTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACTTATCACCA TATACTTCAGATTAATACTAGCATAGCACTATGTAAATACATACATACAT ACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTATTATCATAA TTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGAAATATACA ATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGTAGACTATA TATACACAGACATATGACTATATCAATAATATGATGATACATCAATAAAT AAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCGTGTATTTC TGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGAAAGACATT CTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTATCTTAATC TCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATATAATTTGAC TGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAGTTTGGACA TGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCATGTGTTAAA CTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATTTTTCGCTGT CTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTTCTTGGTGT TAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGTTAATGCTT TTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGTATTTTTCC 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 IleArgValLeuSerProPheIlePheAsnThrIleThrAspMetAlaGl uPheMetSerPheMetLeuLeuIlePheTerIleValGlnPhePhePheI leSerLeuPheGluPheTerArgLeuCysTerLysIleLeuSerTerLys PheAsnPheTerCysValLysTyrValHisThrGlnThrAspThrGlnTh rCysIleSerAsnGlyCysSerLysAspPheAsnIleAspPheAsnLeuS erProTyrThrSerAspTerTyrTerHisSerThrMetTerIleHisThr TyrIleHisThrTyrAlaValSerThrTyrLysProGlnAspCysIleIl eIleIleGluTyrValCysAsnPheMetSerLeuGlyGlyHisLysLysT yrThrIleValCysHisLeuTyrLysLeuArgArgGluTyrLeuCysArg LeuTyrIleHisArgHisMetThrIleSerIleIleTerTerTyrIleAs nLysTerLysLysTerLeuThrTyrLeuProPheProValCysPheValT yrPheCysAspTerAsnTyrHisThrGluTerPheLeuIleLeuTerLys ThrPheLeuCysThrTyrTyrLysAlaAspLeuLeuAlaMetAsnTyrLe uAsnLeuIleTyrProGlyLeuTerValThrPheIleSerGluIleTerP heAspTrpIleTerTyrSerLeuTerThrThrValPheLeuTerGlnPhe GlyHisValIleProProHisSerIlePheSerLeuTerGluValMetCy sTerThrCysAspPheLeuTerAsnTerSerThrThrPheLysIlePheA rgCysLeuTrpHisSerIleLeuTerLeuSerLeuAlaTerArgPheLeu GlyValAsnLeuThrTerValTrpLeuSerProLeuAspProHisValAs nAlaPheLeuSerGlnIleGlyGluValPheSerAsnLeuPheLysTyrP heSerLeuTyrLeuProSerPheLeuLeuGlyLeuProLeuIlePheThr 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
OR8U1_chr11_56370624_56381553	56376094	A A	ATTTCACA others(7598): Show ATTTCACACCATCCTCACCTTCTGCCTCTCCTATTGCCACTCCAACATTG TCAACCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCA GACACTCGCTTCAAACAGCTATGGATTTTGGCCTGTGCTGGTATCACATT CATCTGCTCTGTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTG CCATCCTGAGGATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACC TGTAGCTCTCACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTT TATGTACTTACAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGG CCTCTGTCTTCTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTAC AGTCTCAGGAACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAA TAGAAACCATGCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGA CAAAAATGGGCATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAAC TATTGGAATACCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTG AAAAAATTATTCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATT TCATATGTAGAAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAA TGTATTTTTAAAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCT GCCAGGAATAGAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGT AAGAGTTCTTTAACAATATGTTAAGACTATTTTATAGTATATTTAAAATT AAATTTAATAATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGA GGTAATTTTTCTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTG ATTTTCACAATGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGG GTGGAGGCCAGGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCC TCACTCAAAAAATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGA GAGCCGGTGTTAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATT CATTAAGATCAAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTA TGGTTTTCTCTTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATC CCAAGTTAAATTACGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAA ATGTTTTGGGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAAT TTACTGATTTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGT GATAGCATTTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACT TCATCTCTCTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTA CTTTCATTATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAG CTAATAGTTGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTT TTAATTAGAGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGC TGAATTTATGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTT TTATTTCCTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAG AAATTTAATTTCTGATGTGTTAAATATGTACACACACAAACAGACACACA GACATGCATTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACT TATCACCATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACAT ACATACATACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTAT TATCATAATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGA AATATACAATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGT AGACTATATATACACAGACATATGACTATATCAATAATATGATGATACAT CAATAAATAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCG TGTATTTCTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGA AAGACATTCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTA TCTTAATCTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATAT AATTTGACTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAG TTTGGACATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCAT GTGTTAAACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGACTT TTCGCTGTCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTT CTTGGTGTTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGT TAATGCTTTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGT ATTTTCCCCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTT ACTGGTACACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCC CAGAAGTCGCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTG TTTTCTAGAATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTC TGTCTTCAGCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCA TTTCAGGTATTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAA AATTGCTATAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCA ATATATTAGAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGT ACCTTGATAAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATT ATTTTTTCAGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACA TGTGCACAACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTT TTATCTCCAAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTT TTTTCCATTTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTT GTATCAAATGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGACGGT GTAAACTCAATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACAT ATTTGGGGAATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACT ATATTTGGGGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCT TCCCTACCACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTT TGCTTTTTCAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACA AAGAAATAACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGT GACAGAAATTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAA GATACTTTCTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGG CAGCCACCATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGA GGAGACAGAGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTT TTGCGTCTCTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCT AATCTTAATTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGG AGTTAGAGCTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGC AGATGCATTGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTAT GGCCACAGATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAA GGAACTATAAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGAC ACAGATGTTTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCAT GTCTTAAATTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTT GGAAGATATGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTA AAAATAAATCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTC AAATAAATAAATAAATAAATAACAAGAACAACAATATGAACAAGTAAAAT ATGAATAAATAAATAGCACTATTAATAATAAAATTATCAATCAATAAATA GCATTCCAAAAATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAG CTATAGATCTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCT AGCCTGCTTTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTT ACTTGCATCATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGT GACTGTCAAAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGA AATAGGAACACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATT AAGGTCAAGATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAAC TTTATAACATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTAT AATTTTATTTCTGTTATATATGTATGCATTATATAAAATATATTTCTTAT TGGTATGAGATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTA GGCTGCTTGGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATT AAAACTGTCCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAAC CAAGTCATCAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTA ATTGTGAACCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATT ATTAATTTCCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAA TTAAAATTTCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAA ATATATGAAAACAGATGTTTGCCATATATGTGATATAGGTAAATGAATTA TGAATACAATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATG AAAACTAGAAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGC TCTCCATTCGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATA TAAAGCCTGGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAAT AAGGTTTTTAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGAT GTTGCTGGAATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCA TGTATAATATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGAT AAAGTGGTACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAG TGCAGCCTTACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAA TTGTTGCTTAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCA AAAAGTCTTTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGC AGCAGCAGCAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAA AGTGGTAGAAACATACATGCACACATACTCAAAAATATTCATTTTTGATT TTCATGTCCATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCC CTGCTGTTTCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTA ATTTATTATTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACT TTTCTCTGTATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTAT ACCTATCTACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTT GTATTTATTTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTAC CTTGACCACCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTT AAAATTCATTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATA CGTGTAACTTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTAT TTTCTAATTTAAGATATATTTATACCTGTTATGTGCAGGAGATAACTTTC TTTTGATAGTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAG ATTAGGAAGCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATG TAACTAGAGAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGA GTTCTTTCCACTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTT TTCAATAGTTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTA AGTTTGTCAAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAATT TACATTCACTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGA ATGAAATCATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATC TTAGTGAAGTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGC GGGAGCTAAATAATATGTACACATGGACATAGTATGTAAAGTACCTTTAT AAATATAATAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACC TCTTTTACCTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCT AATAATTTTAATACTAAATTAGCACTTACATATTAACAATAAAATTGATT TTAAGGATATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAA ACTCTCCTCTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAAT TGCACCCAGGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGA GTTGAAGATGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAG TAGTAGGCAATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTC AACACACCAATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTG TTACTCTTCTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAAC AAAATAGTATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTG GCCTTCATGACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCG ATATGTGGCCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAG GAATCTGCATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTT GCACTG	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0001 a0001c0050t0001	a0001c0050t0001g0000 a0001c0050t0001g0000	1	43	0.0233	7605	c.492 others(7612): Show c.492_493insTGCCTCTCCTATTGCCACTCCAACATTGTCAACCATTT CTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCAGACACTCGCT TCAAACAGCTATGGATTTTGGCCTGTGCTGGTATCACATTCATCTGCTCT GTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTGCCATCCTGAG GATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACCTGTAGCTCTC ACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTTTATGTACTTA CAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGGCCTCTGTCTT CTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTACAGTCTCAGGA ACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAATAGAAACCAT GCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGACAAAAATGGG CATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAACTATTGGAATA CCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTGAAAAAATTAT TCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATTTCATATGTAG AAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAATGTATTTTTA AAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCTGCCAGGAATA GAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGTAAGAGTTCTT TAACAATATGTTAAGACTATTTTATAGTATATTTAAAATTAAATTTAATA ATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGAGGTAATTTTT CTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTGATTTTCACAA TGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGGGTGGAGGCCA GGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCCTCACTCAAAA AATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGAGAGCCGGTGT TAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATTCATTAAGATC AAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTATGGTTTTCTC TTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATCCCAAGTTAAA TTACGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAAATGTTTTGGG GCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAATTTACTGATTT TTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGTGATAGCATTT AATGACTAAAAGTCTATATTTTTCTGACAATATAACCACTTCATCTCTCT TGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTACTTTCATTAT ATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAGCTAATAGTTG GATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTTTTAATTAGAG TATTAAGTCCATTCATTTTTAACACAATTACTGATATGGCTGAATTTATG TCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTTTTATTTCCTT GTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAGAAATTTAATT TCTGATGTGTTAAATATGTACACACACAAACAGACACACAGACATGCATT AGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACTTATCACCATA TACTTCAGATTAATACTAGCATAGCACTATGTAAATACATACATACATAC ACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTATTATCATAATT GAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGAAATATACAAT TGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGTAGACTATATA TACACAGACATATGACTATATCAATAATATGATGATACATCAATAAATAA AAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCGTGTATTTCTG TGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGAAAGACATTCT TATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTATCTTAATCTC ATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATATAATTTGACTG GATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAGTTTGGACATG TCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCATGTGTTAAACT TGTGATTTTCTATAGAATTAATCAACAACTTTCAAGACTTTTCGCTGTCT TTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTTCTTGGTGTTA ATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGTTAATGCTTTT CTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGTATTTTCCCCT TTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTTACTGGTACAC TTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCCCAGAAGTCGC CAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTGTTTTCTAGAA TAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTCTGTCTTCAGC TTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCATTTCAGGTAT TGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAAAATTGCTATA AGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCAATATATTAGA AAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGTACCTTGATAA AGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATTATTTTTTCAG TATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACATGTGCACAAC GTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTTTTATCTCCAA ATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTTTTTTCCATTT GGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTTGTATCAAATG TCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGACGGTGTAAACTCAA TTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACATATTTGGGGAA TCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACTATATTTGGGG AAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCTTCCCTACCAC CTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTTTGCTTTTTCA GAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACAAAGAAATAAC AACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGTGACAGAAATT TATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAAGATACTTTCT GATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGGCAGCCACCAT CTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGAGGAGACAGAG AAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTTTTGCGTCTCT TCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCTAATCTTAATT TTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGGAGTTAGAGCT TCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGCAGATGCATTG TTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTATGGCCACAGAT TGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAAGGAACTATAA AAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGACACAGATGTTT CATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCATGTCTTAAATT ATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTTGGAAGATATG TTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTAAAAATAAATC TAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTCAAATAAATAA ATAAATAAATAACAAGAACAACAATATGAACAAGTAAAATATGAATAAAT AAATAGCACTATTAATAATAAAATTATCAATCAATAAATAGCATTCCAAA AATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAGCTATAGATCT TTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCTAGCCTGCTTT GGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTTACTTGCATCA TTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGTGACTGTCAAA ACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGAAATAGGAACA CCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATTAAGGTCAAGA TAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAACTTTATAACAT TTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTATAATTTTATTT CTGTTATATATGTATGCATTATATAAAATATATTTCTTATTGGTATGAGA TGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTAGGCTGCTTGG AAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATTAAAACTGTCC TTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAACCAAGTCATCA ATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTAATTGTGAACC AGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATTATTAATTTCC CATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAATTAAAATTTC ATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAAATATATGAAA ACAGATGTTTGCCATATATGTGATATAGGTAAATGAATTATGAATACAAT GTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATGAAAACTAGAA ATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGCTCTCCATTCG CCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATATAAAGCCTGG GTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAATAAGGTTTTTA ATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGATGTTGCTGGAA TTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCATGTATAATAT TTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGATAAAGTGGTAC TTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAGTGCAGCCTTA CCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAATTGTTGCTTA ATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCAAAAAGTCTTT AAAAACTTTGATGATGCACATATTTCATGTAACAATAAGCAGCAGCAGCA GTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAAAGTGGTAGAA ACATACATGCACACATACTCAAAAATATTCATTTTTGATTTTCATGTCCA TGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCCCTGCTGTTTC CTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTAATTTATTATT TGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACTTTTCTCTGTA TTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTATACCTATCTAC TTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTTGTATTTATTT CCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTACCTTGACCACC CATACATACTATGTATGTAGAAGTCAGCATAATCACTTTTAAAATTCATT GACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATACGTGTAACTT TTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTATTTTCTAATTT AAGATATATTTATACCTGTTATGTGCAGGAGATAACTTTCTTTTGATAGT AACAATGATTATTTCAGATAGAAAATAACACCTTTTATAGATTAGGAAGC TTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATGTAACTAGAGA ATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGAGTTCTTTCCA CTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTTTTCAATAGTT ACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTAAGTTTGTCAA AATTCACTATATTTACTTCCTCATAGCCATAATGGCAATTTACATTCACT TTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGAATGAAATCAT GTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATCTTAGTGAAGT AACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGCGGGAGCTAAA TAATATGTACACATGGACATAGTATGTAAAGTACCTTTATAAATATAATA AATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACCTCTTTTACCT TTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCTAATAATTTTA ATACTAAATTAGCACTTACATATTAACAATAAAATTGATTTTAAGGATAT TAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAAACTCTCCTCT TTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAATTGCACCCAGG TGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGAGTTGAAGATG CCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAGTAGTAGGCAA TCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTCAACACACCAA TGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTGTTACTCTTCT GTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAACAAAATAGTAT TTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTGGCCTTCATGA CGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCGATATGTGGCC ATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAGGAATCTGCAT TCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTTGCACTGTTTC ACACCATCCTCACCTTC	p.Phe others(7618): Show p.Phe164_Arg165insCysLeuSerTyrCysHisSerAsnIleValAs nHisPheTyrCysAspAspMetProLeuLeuArgLeuThrCysSerAspT hrArgPheLysGlnLeuTrpIleLeuAlaCysAlaGlyIleThrPheIle CysSerValLeuIleValPheValSerTyrMetPheIleIlePheAlaIl eLeuArgMetSerSerAlaGluGlyArgArgLysAlaPheSerThrCysS erSerHisMetLeuAlaValThrIlePheTyrGlyThrLeuIlePheMet TyrLeuGlnProSerSerSerHisSerLeuAspAlaAspLysMetAlaSe rValPheTyrThrValIleIleProMetLeuAsnProLeuIleTyrSerL euArgAsnLysAspValLysAspAlaLeuLysLysValIleIleAsnArg AsnHisAlaPheIlePheLeuLysLeuArgLysTerValGlnTerThrLy sMetGlyIleProSerTerProGlyPheProProHisTerTerAsnTyrT rpAsnThrLeuLeuLeuIleGlyLysGlnTerArgSerValTyrTerLys AsnTyrSerLeuHisPheCysAsnPhePheAspLeuLysProTyrPheIl eCysArgLysTyrHisLysAsnLeuHisHisPheSerGlnGluLysCysI lePheLysMetTyrTyrLeuIleTerTerLeuTyrAsnTerValLeuPro GlyIleGluLysMetLysAlaLeuTerMetProSerSerGlyLeuTerGl uPhePheAsnAsnMetLeuArgLeuPheTyrSerIlePheLysIleLysP heAsnAsnIleTerLeuAsnTyrLeuGlnGlnCysLeuTyrIleGluVal IlePheLeuProGlyGlyHisLeuSerIleLeuArgLeuIleIleAspPh eHisAsnAspArgIleLeuTerArgAsnAlaIleAlaIleTerArgValG luAlaArgCysAlaAlaLysTyrPheThrIleHisAsnMetAlaProHis SerLysAsnTyrThrSerProAsnAspAsnSerAlaGluValGluArgAl aGlyValLysTerPhePhePheSerSerArgValIleLeuTerIleHisT erAspGlnAlaGlyTerTerCysCysSerSerLeuPheTrpLeuTyrGly PheLeuPheIleCysSerIleAsnTyrTerAspTerCysTerAsnProLy sLeuAsnTyrValPheThrPheIlePheCysGlnPheTerPheTerMetP heTrpGlySerPheValIleCysAlaTerIleSerSerTyrLeuIleTyr TerPhePheSerLeuLeuAlaLeuLeuAsnAlaLeuProPheLeuTerTe rHisLeuMetThrLysSerLeuTyrPheSerAspAsnIleThrThrSerS erLeuLeuArgLeuLeuTerAlaTrpLysSerIleProSerPheTyrPhe HisTyrIleCysAspPheLysCysThrPheCysLeuLeuTerThrAlaAs nSerTrpIlePheValPheValIleAsnSerGluTerLeuSerLeuLeuI leArgValLeuSerProPheIlePheAsnThrIleThrAspMetAlaGlu PheMetSerPheMetLeuLeuIlePheTerIleValGlnPhePhePheIl eSerLeuPheGluPheTerArgLeuCysTerLysIleLeuSerTerLysP heAsnPheTerCysValLysTyrValHisThrGlnThrAspThrGlnThr CysIleSerAsnGlyCysSerLysAspPheAsnIleAspPheAsnLeuSe rProTyrThrSerAspTerTyrTerHisSerThrMetTerIleHisThrT yrIleHisThrTyrAlaValSerThrTyrLysProGlnAspCysIleIle IleIleGluTyrValCysAsnPheMetSerLeuGlyGlyHisLysLysTy rThrIleValCysHisLeuTyrLysLeuArgArgGluTyrLeuCysArgL euTyrIleHisArgHisMetThrIleSerIleIleTerTerTyrIleAsn LysTerLysLysTerLeuThrTyrLeuProPheProValCysPheValTy rPheCysAspTerAsnTyrHisThrGluTerPheLeuIleLeuTerLysT hrPheLeuCysThrTyrTyrLysAlaAspLeuLeuAlaMetAsnTyrLeu AsnLeuIleTyrProGlyLeuTerValThrPheIleSerGluIleTerPh eAspTrpIleTerTyrSerLeuTerThrThrValPheLeuTerGlnPheG lyHisValIleProProHisSerIlePheSerLeuTerGluValMetCys TerThrCysAspPheLeuTerAsnTerSerThrThrPheLysThrPheAr gCysLeuTrpHisSerIleLeuTerLeuSerLeuAlaTerArgPheLeuG lyValAsnLeuThrTerValTrpLeuSerProLeuAspProHisValAsn AlaPheLeuSerGlnIleGlyGluValPheSerAsnLeuPheLysTyrPh eProLeuTyrLeuProSerPheLeuLeuGlyLeuProLeuIlePheThrG lyThrLeuAspMetAlaHisPheIleGlyThrThrPheTrpCysProArg SerArgGlnAspPheLeuHisPheSerValIlePhePhePheSerValPh eTerAsnArgGlnValLeuPheThrTyrPheGlnPheTyrGlnPheCysL euGlnLeuTyrHisTyrSerPheTrpSerAsnGlnTyrIlePheHisPhe ArgTyrCysIlePheIleSerLysTyrSerPhePheSerLysLysLysLe uLeuTerGlyPheIleGlyGluIleAspGluIleTerIleTerSerIleT yrTerLysIleMetLeuHisLysCysPheLeuValLeuIleIleValPro TerTerSerAspMetIleCysAlaIleTyrSerPheTerAsnTyrTyrPh ePheSerIleProLeuLeuLeuLeuTyrPheLysPheTerGlyThrCysA laGlnArgAlaGlyLeuIleHisMetTyrThrCysAlaMetTerPheTyr LeuGlnIleLeuTyrLeuValLeuTerLysIleTyrIleLysIlePhePh eHisLeuValArgTyrTrpTerAlaAsnAspTrpIleProGlyPheValS erAsnValLeuLeuAlaPheSerPheThrTyrPheTerLeuThrValTer ThrGlnLeuTerPheSerLeuProIleTerAsnLeuTerLysThrTyrLe uGlyAsnLeuValHisLeuHisProTerIleAlaGluLysTyrThrIleP heGlyGluLysLysValValLeuTerLeuLeuSerThrProProLeuPro TyrHisLeuProProThrLysProPheAlaLeuTerArgIleIleLeuLe uPheGlnArgCysSerProIleGlnLeuArgLeuGlnTerLysThrLysL ysTerGlnGlnGlnLysProGlnAsnLeuAspTrpValAlaTerValThr GluIleTyrPheLeuThrValLeuGluThrArgSerProArgSerArgTy rPheLeuIleGlnLeuLeuValArgSerLeuPheLeuAlaCysArgGlnP roProSerSerValCysSerHisAspLeuLeuPheValSerIleGluGlu ThrGluLysLysLysLysLysArgGluSerGluTerAlaTyrThrPheAl aSerLeuLeuIleArgAlaLeuThrProSerLeuIleThrLeuSerAsnL euAsnPheLeuProLysLeuLeuSerLeuAsnIleIleThrLeuGlyVal ArgAlaSerIleTyrGluPheTerGluIleGlnPheSerSerTerGlnMe tHisCysSerValIleSerIleThrIleMetPhePheSerCysTyrGlyH isArgLeuAlaLysLysIleIleSerLysAlaIleLeuTerThrLysGlu LeuTerLysLeuSerAsnAsnArgTerGlnGlnProTerLysArgHisAr gCysPheMetSerIleSerLysSerLysProLysArgGluTyrHisValL euAsnTyrSerValIleAspTyrTrpGluPheGlnIleSerSerLeuGlu AspMetLeuTerLysPheLeuGlnGlyAsnPheTyrPheSerPheLysAs nLysSerLysLeuTyrHisTerGluThrThrLysGlyLysGluPheLysT erIleAsnLysTerIleThrArgThrThrIleTerThrSerLysIleTer IleAsnLysTerHisTyrTerTerTerAsnTyrGlnSerIleAsnSerIl eProLysIleArgThrLeuGluGlnTerCysHisAlaLysSerGluLeuT erIlePheGlySerSerLysLeuGluAsnAspValAsnLeuSerLeuAla CysPheGlyIleProTerValIleAsnTyrPhePheTerTerPheTyrLe uHisHisSerProLysTerAspProMetGlyGlnArgGlyGlnSerAspC ysGlnAsnProIlePheCysCysCysProAsnProLeuGlyGluGluIle GlyThrProPheThrGlnValSerSerAsnAsnMetPheGlnAsnTerGl yGlnAspLysHisPheLysAsnLysValAlaTerAsnIleMetAsnPheI leThrPheTerMetAlaPheSerGluIleArgLeuMetPheSerIleIle LeuPheLeuLeuTyrMetTyrAlaLeuTyrLysIleTyrPheLeuLeuVa lTerAspGluLysGluSerLeuGlyIleProArgTerAsnLeuLeuGlyC ysLeuGluLysLeuAspThrTerLeuThrArgLeuGlnPheThrLeuLys LeuSerPheLeuPheLeuProIleTerLysValSerThrSerLysProSe rHisGlnTyrValIleTerCysValCysTyrLysTerArgThrLeuIleV alAsnGlnTerAsnLysTyrTerLysValLeuAlaLysIleTerLeuLeu IleSerHisTyrGlnAlaSerArgArgGlyTyrIleLysThrLeuIleLy sIleSerTrpArgProProMetAspSerAlaValTyrGlnAsnLysIleT yrGluAsnArgCysLeuProTyrMetTerTyrArgTerMetAsnTyrGlu TyrAsnValSerArgThrGlnArgTerLysMetValThrGlnHisGluAs nTerLysSerGlyLysProTerArgIleAsnSerPheHisCysSerSerP roPheAlaIleHisLeuValGluValSerValSerLysSerThrTyrLys AlaTrpValThrCysLysGlyMetLeuTyrLeuArgThrValLysTerGl yPheTerLeuIleThrGlyCysCysLeuArgLysLysGlyArgAspValA laGlyIleLeuMetGluAsnIleMetAspTyrIleValLysGlyHisVal TerTyrPhePheLysTyrAsnValHisSerThrPheGluMetArgTerSe rGlyThrSerArgTerAspAsnLysCysLeuIleValValLysGlnCysS erLeuThrTerAsnLeuGlnThrTerLysLeuAsnPheLeuSerAsnCys CysLeuIleIleSerLysGlnAsnLeuCysIleCysMetAsnThrLysLy sSerLeuLysThrLeuMetMetHisIlePheHisValThrIleSerSerS erSerSerAsnAsnLysTyrTyrLeuLeuLeuSerSerSerTerLysVal ValGluThrTyrMetHisThrTyrSerLysIlePheIlePheAspPheHi sValHisAspLeuTerArgThrSerLysPheSerTerTyrIleProLeuL euPheProGluIleIleLysIleTyrGlnLeuGlyPhePheCysTerPhe IleIleCysTerAspTyrIleSerGlyThrLysIleLeuArgHisPheSe rLeuTyrSerThrTerLysValHisTyrValTerLysPheThrTyrThrT yrLeuLeuAlaLeuLeuLysAspPheProCysValLeuThrPheLeuTyr LeuPheProGlnThrPheLeuCysSerArgProArgGlyIleLeuProTe rProProIleHisThrMetTyrValGluValSerIleIleThrPheLysI leHisTerGlnLeuGlyGlyLysValIleLeuLeuThrTyrThrTyrVal TerLeuLeuIleHisGlnGlySerLysPheTyrGlyLeuIleLeuPheSe rAsnLeuArgTyrIleTyrThrCysTyrValGlnGluIleThrPhePheT erTerTerGlnTerLeuPheGlnIleGluAsnAsnThrPheTyrArgLeu GlySerLeuLysAsnLysLeuAsnPheTerCysAlaLysValTyrValTh rArgGluTerTerLysTerIleProGlyLeuProValLeuSerArgValL euSerThrValSerCysLeuThrTerIleProThrLysCysHisPheSer IleValThrCysHisTerAsnAlaThrValTyrHisLysAsnAlaLysPh eValLysIleHisTyrIleTyrPheLeuIleAlaIleMetAlaIleTyrI leHisPheLeuArgValIleGluTyrTyrLeuAlaThrLysLysGluTer AsnHisValPheCysSerAsnMetAspGlyAsnGlyGlyHisTyrLeuSe rGluValThrGlnLysValLysHisHisMetPheSerLeuIleSerGlyS erTerIleIleCysThrHisGlyHisSerMetTerSerThrPheIleAsn IleIleAsnLeuCysArgGluLysTyrValPheProGlnAsnAsnLeuPh eTyrLeuSerSerHisProIleProSerProAspLeuLysTerAlaAsnA snPheAsnThrLysLeuAlaLeuThrTyrTerGlnTerAsnTerPheTer GlyTyrTerGlyIleLysLysLeuTyrLysCysTerAlaTerLeuAsnSe rProLeuPheIleGlnThrThrTerArgGlyMetThrGlnIleAsnCysT hrGlnValThrGluPheIleLeuValGlyLeuThrAspArgGlnGluLeu LysMetProLeuPheValLeuPheLeuSerIleTyrLeuPheThrValVa lGlyAsnLeuGlyLeuIleLeuLeuIleArgThrAspGluLysLeuAsnT hrProMetTyrPhePheLeuSerAsnLeuAlaPheValAspPheCysTyr SerSerValIleThrProLysMetLeuGlyAsnPheLeuTyrLysGlnAs nSerIleSerPheAsnAlaCysAlaAlaGlnLeuGlyCysPheLeuAlaP heMetThrAlaGluCysLeuLeuLeuAlaSerMetAlaTyrAspArgTyr ValAlaIleCysAsnProLeuMetTyrMetValValMetSerProGlyIl eCysIleGlnLeuValAlaAlaProHisSerTyrSerIleLeuValAlaL euPheHisThrIleLeuThrPhe	OR8U1	ENSG00000172199.1	transcript	ENST00000302270.1	protein_coding	1/1	493/930	493/930	165/309		INFO_REALIGN_3_PRIME	chr11	TogoVar
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 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0003c0003t0001	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 a0003c0003t0001g0001	196	422	0.4645	0	c.59- others(4): Show c.59-2A>C		PATE4	ENSG00000237353.7	transcript	ENST00000457514.3	protein_coding	1/2						chr11	TogoVar
PCDHGA8_chr5_141387633_141517975	141393331	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00609.hp2 HG00621.hp1 others(42): Show HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01243.hp2 HG01516.hp2 HG01891.hp1 HG01981.hp1 HG02027.hp1 HG02040.hp1 HG02132.hp1 HG02257.hp2 HG02273.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02897.hp1 HG03098.hp1 HG03195.hp2 HG03471.hp2 HG03491.hp1 HG04228.hp1 NA18954.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18980.hp2 NA18990.hp1 NA18994.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp2 NA19012.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0012 a0003c0003 a0003c0012	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(4): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0006 a0003c0003t0011 a0003c0003t0012 a0003c0012t0006	a0003c0003t0001g0164 a0003c0003t0001g0258 a0003c0003t0001g0272 others(42): Show a0003c0003t0001g0164 a0003c0003t0001g0258 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0002g0163 a0003c0003t0002g0176 a0003c0003t0002g0192 a0003c0003t0003g0161 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0003t0003g0168 a0003c0003t0003g0169 a0003c0003t0003g0170 a0003c0003t0003g0171 a0003c0003t0003g0174 a0003c0003t0003g0175 a0003c0003t0003g0179 a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0182 a0003c0003t0003g0184 a0003c0003t0003g0185 a0003c0003t0003g0186 a0003c0003t0003g0187 a0003c0003t0003g0188 a0003c0003t0003g0189 a0003c0003t0003g0257 a0003c0003t0003g0259 a0003c0003t0003g0260 a0003c0003t0003g0261 a0003c0003t0003g0262 a0003c0003t0003g0263 a0003c0003t0003g0264 a0003c0003t0003g0271 a0003c0003t0006g0162 a0003c0003t0006g0167 a0003c0003t0006g0173 a0003c0003t0006g0177 a0003c0003t0006g0178 a0003c0003t0006g0190 a0003c0003t0006g0191 a0003c0003t0011g0183 a0003c0003t0012g0265 a0003c0012t0006g0172	45	300	0.1500	-1	c.522 others(4): Show c.522delC	p.Asn others(5): Show p.Asn175fs	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/4	703/4782	522/2799	174/932		INFO_REALIGN_3_PRIME	chr5	TogoVar
PGA4_chr11_61217347_61236694	61223849	GGGCACAA others(12838): Show GGGCACAAAGCAGTGATGCCTGTGGTTCAGAGACTGGCCTCTGCCATCCA GCAGACCTGGTGCAAATATGGGTCCTAGTGCCTCTAAGCCACAGGACCTT GGCCAAGTCATTTAAATACTCTGAGCCTGTGTCTTGGTCTGGAAAACAGA ACCACTAATATCTACCGTCAGAGGATGTTGCCAGGAATTAACACGATCAT GTTTTCTGGAGTGCTTAGCATGGGGTCTGCCAGGCCCTTGGTAAGAGGCT TAATTAGCGCATTTATTTAGTTCACAAATATTTAACAAATATTGGCACCT CTCTATGTGCCAGAGGCTATGCAAGTTGCCAAAATGATGGTGAATAATCA AAGTTCCTGGAGCTTATACTCTAAAGGGGATAACAAATAAACAACCATGT AAGATAATTTCAGGTAATGATAAGGGCCTTGGCAAATTAATTAATGGGAG CATGGGGAACAAGAAGATTGAGAGGGGGCAAATTTAGATAAAGTGGTCAC GGAAGGCCTGTTGGCAGAGGGGACATTTGACTAGAGAGCTGAATGATTGA TTTTTGATAAAAGGATCAGCCAAGGAAAGATCTAGAATAAACATTTTCCT AGCACAAGGAATAGCCAGTGCAAAGGCCCTAGGGCAGGAGTGACTGGTCA TCGCCAAAGAACAGCAAGCAGACCAGTGTGGCGGGAACAGAGCCGGCAGG GGGAAAATGCTGCCACTAACAAGAAAAATACTGGTTGATTGGCGGAGGCG GGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCCGGCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATTTGCCGGGCATGATGGCACAC ACCTGTAATCTCAGCTACTTGGGAGGTTGAGGCAGGAGAATCACTGGAAC CCAGGAGGAGGAGGCTGCAGTGAGCCGAGGTCGCGCCACTGCACTCCCGC CTGGACAACAGAGTGAGACTTGTCTCAAAAAAAAAGAATAAAAATACTGT CAATGCCCTTTCTTGCAACCTGCTATACACATCTAGATGTAGAAATAAGA AAACTGGACAGGTTTCCATCTTTAAGTGGCTTGCTTAGCTTCTGATAAAC AATTTAAGGCACAAGCACTTAAGCTGTAACTTGCCCGGTGCTAGAAGGTT CCACCGCCATCCTCTGAGAACATGCGCTGTACGGATGGGAAGACTGTGAC AGACAAGACAATGGCTAAAGAGGGAACAGCAGATTGTTAGGTGCTTGTGG TGCTTAACAGAGAGCAGAGGGTAAATTGGGGGAGCAATCAGGGAAGACTT CAAGGAGGAAGGGACGCCAGGGCTGGGATTTGAAGGATGAAGACAGTGGC TGGGAAGAGAAAGATAAGAACTGTGAGGAATGAAGGAAAAGATGGAGAGG CAGACTGAGGAGATGACCCAGAGACAGCCCCTAGGGAGGCCCTGACAGAG AGACCCCGTTCCGTGAACTGCCCTGTCCTCGCCTGGACAGATGGAGTACT TCGGCACTATCGGCATCGGAACTCCTGCCCAGGATTTCACCGTCGTCTTT GACACCGGCTCCTCCAACCTGTGGGTGCCCTCAGTCTACTGCTCCAGTCT TGCCTGCAGTAAGTGCCCAGACCGCCCTACCCCACTCTCACTCCCCAGCA CCAGCCGACCCTGGGGAACCCTGGACACCCACGGGCTTCAAACAGTTCCC ACCTCAAGCCTGCTGGAGCCACTCAACAGGCATTTATTGAGCACCTACTA CGTGCCAAGCACTGGGCTCAGGTGCTCCAGGGGGTAAAGGGATGAGTGAT ATGATCCCTGCGGTCAAAGACTACACAGTCTGAGGGCAGAGAGAAGCTCT CCTCAATAACCACAGGCTGGGAGAGGAAGTATGGGGGGCCCAAAGCAAGA CAGGGCCAAAGGGCTGTAGAATAGCCCACCAGGAAAGAGTCCAGTGTGAG AAAATGGCTTCAAAGCCTGGCTAGGACAGGCTAGAGGTCAGTGCTGAGCT CATTTAAAAAAAAAAAAAGAATCATTGGTTTGCTAATGAAAGAGAGTTTG TCTTTGGAAGTCATGAACAATGTGTGTTGCAGGTTCCTTCCTCTTCTAGT GTTTTCACTGGAGTTTTAATGAAGATGAGGTGCCTGTGGCATCATCCACA TCATAACGGGAGCACTGGCTGGGGGCTAGAGGGTGAAAGCGCTCGTCACT GGGTAGCCACGGGCCTGCTCCGCTCTATGTTGGTCTGGGGAGGTCTCCAG GAGGCCCTTGGGGTTGGCTGGGGAAACTGCCACCAGTGAATGGTCCCAGT AGTTCAACGAGACAGGACAGAACCTGGGGTCTCTTGGGCTCCAAGGGTCT AGGGCGAAAGGTCGCTGCTCACCTCCAGAGCCCGTCCCAGGGCCAGGGCA CCCCATCCCAGGAAGACATCCAGCCCATGACCTTCACCCAGCTCTCAGAG AATAACACTCACCGCTTGTCCTTGCAGCCAACCACAACCGCTTCAACCCT GAGGATTCTTCCACCTACCAGTCCACCAGCGAGACAGTCTCCATCACCTA CGGCACCGGCAGCATGACAGGCATCCTCGGATACGACACTGTCCAGGTGG GCACCTGCAGGCTGCCGCTGCATCCCCCCATCAGGCACCCCCAAAATAAG CTTATTCCAGCAAGATGAGTCTTGGTGATCACAGAAGTAACCTGATTGGG GGTGCGGGGTGGGGGAGAAGCAGCAGAGATGTCACAGACATTGCTAGCTC GGGTGGCAGTGAGTAAAAGGGTGGGGTGCCAGGAGCCATAACCCAGACTC AGCTCCACCCAAGCAGAATGTTATGGAGTGTGGGGAGAGTCAGTAAAGGC TCACTTCTCTACTAGCACCTCCTCCTCTTCCTTCTTCTCCCGACATGCAG CACCCCAAGTCACGAAATCTCCACAAGCCCTCCCTGCCACTTTCGGGGCA TGGCAGGGGTCAAAGGCCTGGGGTCTGGGGTCTGCTTTGCGTTTGTTCAT CAGAAACACAAACACACAGTGACCATCTGTTCTCCAGCAAAATCTCACCC TGAGTCATAGACTGTAGCCATCTGGAGATCAGCTGCCATGGTTACCTCCA GCAGAGGAACCAGCATTCCAGCAGACAGTCCCTCTGCCCTCCTCCCGGGC TGATACCCTGGAAGCCAAGTCCTGCATGAGATGAACCAGGGTGGCTCTGG GCCTGAGGCTGGCATCCAGAGCTCAGTGAACATGACCCGATGGTGAACAT CATCTCGGTTTCCCCACCCAGGTTGGAGGCATCTCTGACACCAATCAGAT CTTCGGCCTGAGCGAGACGGAACCTGGCTCCTTCCTGTATTATGCTCCCT TCGATGGCATCCTGGGGCTGGCCTACCCCAGCATTTCCTCCTCCGGGGCC ACACCCGTCTTTGACAACATCTGGAACCAGGGCCTGGTTTCTCAGGACCT CTTCTCTGTCTACCTCAGCGCGTAAGTTGAGTGGAGAGGGGCCTCCTCCC ACCTCCCCCTCCAGAGGTCACAGTGTTCCTGCCCAGCAGGAGCTGTCCAA GGCTGGGTGCGATGGAGAGGGTCTTGGGAAGCAAGGGATTTGAAAGTCAA TGTCTGAGGCTGGAGAAGTGTGTCTTTGGAGAGTAATAGTGCCAAGTCTG TCTCTGACGGGCCATGTGCACTCCATCTTATTTTACCAGCATCTTTGTCC CCTTGATGTGCACAACTCAAATGTCATCAGCCATTTCCCCCTCAGTACCA CTTCCCTCATCCTTGGCCCGCAAAGATGCCATTTAAAGTGAATACACTTG GCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCTGAG GCAGCAGGATCACCTGAAGTCAGGAATTCAAGACTGGGTTTCATGGTGAT AGCCAGGATGGTCTCGATCACCTGACTGCCTCAGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGTGCCCGGCCCTGGATGACTAATTTCTTCT TGCTGTCTACATTTGCTTCCTCATCTAACCTGAAACTGCAGAAATTTAGA ACATGAATATTGCAATAACAAGGACTCCTGCAATTTACCACAGGAAGGCT CTTTGTCATGTATTCTTCTTGGCCAGTTAATGTTCAAGGTGGCTCTGAAA CATCATCTGCCTTTATGAGCACTTAAATATTTCATGTGGGGCCATTGCAT CTCCCCAGCCAGATCCGAGTTTCTCAATCTGGGCACTATTAACATTTCAG ACCAACATAAGAGCTTGCCGCCAGGGACTGTCCCGTGCATTGTAGGATGT TTGGCAGCATCCCCAGCCTCTACCCATGAGATGCCGGCAGCATCCCCTAC CCCCACCCAATCATGACAATCCAAAATGTCTCCAGACATTCCCCTGGGGG CAAAACTGCTCCCAGCTAAGAACCAGTGACCTCCACCCTCAAGTCCTTAA GAGCGGACACTGTCATGCATTCACTTCCCTGGGGTCCCCATGGCAACCAG AGTGGGTACCACCATGGAAACCACAGACTCAACCTAAAAGGCCTGTGTTC TTCCAAACGTAGTTCCACCACTCCCCCGCTGTATGACCTTGGGCAGGTGG CCTCACCTCCCTCAGGCTCAGTGTCCTCATGGTAAGTGGAAATAACAGTG ACAGTGCCCACTGCATAGGCACTGGCCTAAGAGGAAAAGAAACCACATTA GTCACACCGCAGGACAGCCCTAGAAAGTGCCCAATCAAGGGTAGCCCTGA GGAGGCAACAGCAGATGGTCACACAAATGGACGAACAAAAAAATTCATGT CTTCTCCCCTCACTTTCCACAGCGATGACCAGAGTGGCAGCGTGGTGATC TTTGGTGGCATTGACTCTTCTTACTACACTGGAAGTCTGAACTGGGTGCC TGTTACCGTCGAGGGTTACTGGCAGATCACCGTGGACAGGTGAGACTGCC ATGAACGGGCAGCATCCAGGCCTGGGCCCCAGATCCCATTTCCTTATGGA TTCATAGCCAATCAGCTTTCCAGAATCCCCCCAGGAACAGCTGGCACAGG GGAACACACTCCAGGGGGAAGGTGGAAGTTGGCCAAGCCAGAGACCCCTA GAAAGACACCTCCCTGCAGGAGGAGGGAAGAGCTGTCTAGGAAGCCAAGA CTCTGCAAGGGTGAGATAGCCACTGTCCTCCTAGTCACGGAGGCAGGACC ATCCACCAGCATCCCTGGGGAGAGCTGGGGGACCCACCTGTCCACGCATC TGACAATTTAAGGGGCCGGTGAACCAGCACACGCTCCTGCCACTCGAGGA AACATGTCACTTTCCGTCTAGAAGTGGGGCAAAATGGCTAAGAAATTGTG TGAAGTCACTTCATTCCACCCTCCCCTTCAGGGCCTCCCCGGTCTCCCTT GCAGCTTCATTTCCACGCTCTTCTTCCCCAGCTAGCCTGCTAGCGTGCTC AGTGGTGTGGGTTTTCCCAAGAATGAACAATTTCCCAGGACAGAGACTTT CAGTACTAAAACTGGGACCAGCCCAGGCAAACCAGGACACATGGATCACC TCATGTCTGCCCAGCCATGCTAGAATTTCACCAGTTCCTCCAACACCTGC CCCAGCCCTCTGGTCTCTGTACCTCCCCGCATACCATCCCCTGATGATGT CCTCCTTCTCTCTTCACCTGCCTGGCATTCCAGGGTGTCTGTTCCCCTGG CTGCTCCCCTCCACCACCTCTCACCCTGGACCCTGTTTTTGTTCCCTGCC TCATGCCTGACTGATCATCTTGCCCTTCTGCCAACATAACTTATCTTGCC AGCTAGGCAGGGAGCTCCCTGCAGCCTGGAACTGTGAGGCTGTCTTGTTT CACTTGGCATTTCCCATGCCTGGCAGAGAGTAGGCACTTGGGAAATATTT GTTGGGCAAATGAATGCGGGACGAATGAGTGCGTGAACGAGAGGAACAGA AATTTCACGCATTGGCCAATGGATGGGTGGGGAAGAAATGTCTGGGCTCA CCTCCTAGTTCCTCCTTGGAGAGAAGTACCCCTGAGAGCTCAGGGAGCTT AACTTGCTTCTTGCCCTCAGCATCACCATGAACGGAGAGGCCATCGCCTG CGCTGAGGGCTGCCAGGCCATTGTTGACACCGGCACCTCTCTGCTGACCG GCCCAACCAGCCCCATTGCCAACATCCAGAGCGACATCGGAGCCAGCGAG AACTCAGATGGCGACGTGAGTCCAGCCCCGACTGCTCTGTTCTACACTCA AGTAGTGGGTGTGCCAGGCAGAAGGGACAGAAACCCTTCTAACTTTTCTC ACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTG CCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAG TGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGGGGTT CACACAGAATGTGGACACAGAGTTCCCCTCTGCAGACGGAAAGTACACTT CCACGAGCTGAAGCCAGCAGGCAGAGGCAGACGAACATCTGCCCTAGACA GCCTCCAGAGAAAAAGAATATATTAAAAACAAATGCAGGAATAAGAACTC GGATACAGCCCCCTAAGGGAACAAGTGAAGCAAAGGTTAATGGAGTGAAA AGAGGATTCTATTTGGACCCCTGGGTCCAAGTCCTGGGTCTGAATTACTA GCCCATTGATTCTGAGCAAGCTACAGCTCATCTCACCCTCAGTTTTCTCA TCCAAAAAGTAGAGATGGCAGCTTTCCCCACCCTCAGAGTGCGGTTAGGT CAACCAAGTGAGACTGATCACATCAGAGCTACCAAGGGTTGGGCAAATGG AAATCCTAATTTCCATAGGCTGGGGCTTCTGACACTTCTACCATCTCTAC CAAGTAGCAAATCTTTAGCTATACGAGCCACAAGAAAACTCTTTCCCTTC TGTTATCATAACGTCAGGTGGAAAACTAATTTTGCCAGTGGACTCATGTT ACTCAACAAGAAGCACTGATGCCTGGGCTCCCCCACTGATTCTGATTACA TTAGGAGAGGGCAAGGCCTGAGCAATGGGATGGGGCTGCGGGGGTTCAAA GCTCCCCAGGTGATGTGCAGACAAGGTCGCAGCCCAGTGACTTAGTGAGG CAAGAGGGCTAATAGCTCATCTGGTTTGCCTCTGACCGGATCAGAATAAT AATGAGAAAAGGCTATGGCGGCAGGGTTTTCAAACTCCTTCCTAGCAGCT GAATTCTCCCTAAGCCCCTTAGCACCAATGCTGATGTCAGGGTTCGTGTG CCTGCCAGAAACACCAGATAATGTCCAGTAATGCGTAGAAACCAGTCGTT CAGTGGACGGCTTCTACAGGCCGACTCCAGGCCAAGAACAGCCGAGTCCC TGGACACTGAGCCAGGAAGCTCCTCCTTGCACGTGCCTTACAGCTGGACC AGGGCGCCCTGGATGTTTATCACCCAGCGCCTATCACGGCTGAATCGGTG TCCCAGCTCCACTTTTATTCTCCTTTTCTCCAGAGCGAGGGGAGCTGCAT CAGTGGCTTCCAGGGCATGAACCTCCCCACCGAATCTGGAGAGCTTTGGA TCCTGGGTGATGTCTTCATCCGCCAGTACTTTACCGTCTTCGACAGGGCA AACAACCAGGTCGGCCTGGCCCCCGTGGCTTAAGCCTAAGTCTCTTCAGC CACCTCCCAGGAAGATCTGGCCTCTGTCCTGTGCCCACTTTAGATGTATC TAATTCTCCTGACTGTTCTTCCCAGGGGAGTGTGGAGGTCTTGGCCCTGT TCCCTGTCCTACCAATAACGTAGAATAAAAACATAACCCACTGAAACAGG TTTTGTGGAGCTGCTTCTCTTTGCTGGTCTTTTTCCTTCACATTACTGGG GTTAGAACGCCAGGGCAGGGATGAAAATGACCACATCCATTTGGATGGCA CCCAACATAGTGACCCCAGCAGCTGACACTTCATGATGGAGCCAAGAAGA CAGAGAGGCTTCGGGGGTTGTGCTGGAAGCATCATAAAAAGACCTGGGGG TCAAAATACTGGGCTAATTGTCTTCTCATAGAAGGGACACAGAGCTGAGA TCGTGCCATTGTACTCCAGCCTGGGCGACACAGAGAGACTCCAGCTCAGA AAGAAAAAAATAGGTCACTGAAGCTCTTAGTTGAGGGAGTCAACCTCCTA CTTCTCCCAAAGCCAATAAGAGATCATGAGAAGGCTGGGCACAGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGGTCACCTGA GGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAT AAATTTACAAAAATGAGCTGGGTGTGGTGGTGCGCACCTATAATCCCAGC TACTCAGGAGGCTGAGCCAAGAGATCGCTTGAACCTGGAAGGCGGAGGTT GCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCATCTCAAAAAAAAACAAAAAAAGAAAAGAGATCATGAGGAAAGG AAAGCAATCAGGAGAGTCACGAGAGGTAGACACTAATGGTGATGTCCCTA AGTAGATAGGACAGGGCAGAGTTGTCTGCAAGACGTGGACAGGAGAAGTG GAAGAAGCTGACACCCCACAGTCTTCCAGGATGCCCTTGTGATTCACTGG CTACCAAGACCAAGACTAACAGTTAATCTCCCCAAGGTCCTAGGCAGAAA ACACTGAACCCATCTCTTTCCCCATCTGTAACCAAAGAGAAAGGTCTTCC ACTTCCCTGAGCAGAGGTTGTGAGACAGAGAATTAAGCATGTTCATTAGC ATATATGCCCTAGAAAGGCAAAGAGGAAATGGAGCAGTTTCTCAGACTGG GCTTGGTAGCAAAATGTTCAATGGAAAACACAGTTTCAGAATAAGTATAG AACATGCTACATTCTAGGCCCTTCCCCAGGGTTCACCAGCTACAGTTCCC AATCAAAGGCTCTGACAAGCCCTGCTGCAAAGTGATCTGTTTCTTTTTAA CTCAGCTGAGCTTCATCTCAGACTCTCTCTTGCTAGTAAGTCTATTACAG CCCTGGGCTCCCCGGCATGCATGCTGGGAAAATTCCCATAGCTCCTGCTT CTGGTGACAGCCGACCCAGGCTTTCTGCTGAAGACACAAGCCCAGAGGCT GGAGCTGGGCTCTAGGAAGGGCGGGGGTGAGCTCCAACACCCAGTCTCCC CAGGGTCACTCTCACCCTCCCAAGCCCATTTTCCATAGCTGAATAAACTT TAGGAAACATAAATTTCATCTCATCCCTTCCTTGCTTTAAACTCTTAATG CCTTCTTGCCATTGCCGTTGGAATAAAACAGCAAATCTTTGGCATAGTCC CACGTCCTGTGTGCTCCTTTCCCTCCAAACCTTCCCTGCTTCACTCTGAT CCCGTTACCCCGAGCTCCCTCCACCCTGGCCTCCCACGGCCACAATAGCC CAAGTGTTTTCCCACCTCCAGACTTTGCACATGCTGTTCCCTTTGCCAGG GTTGCTTTTCCCTCTTTCTTGACTAGCTAACACCTAGCATCTGCAGACGT GGCTTAAATGTCACTTCTCAGCCAGGCTTGGTGGCTCACGCCTATAATCC CAGCACTTTGGGAGGCCGAGGTGGGCAGATTAACTGAGGTCAGGAATTTG AGACCAGCCTGGCCAACATGGTGAAACCCCATATCCACTAAAAATATACA AAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTATTTAGG AGGCTGAGGCAGGAGAATCGCTTTAACCCAGGAGGTGGATGTTGCAGTGA GCCGAGATTGCACCACTGGACTCCAGCCTGGGCAACAAGAGCAAAACTCC GTCTCAAAAAAAAAAAAAATGTCACTTCCCTGTAAAAGTGATCAGCCCTC CCTCACCACTCTCTCAGAGAGCCTGGGCCTACATTTTCCCTCATGGTACT TGGCACTACCTATAACCATGCATTTCAGTGTTTAAGATTCACAAGGACAG GGATGGTGATGGTTTTAATTAGGTTTGAAGCCCAAGCAGCAAGAGCCGGG CTTGGCACATACTAGGAGGTCAATAAATATTTGCTGAATGAGTGATTAGA GAAGACTTTTTGAAAGGAACCATCTCAGATAGGATGAGAGTATGAGAGTG GGGATATGGTTTGACAAAGGCCATGTGAATAACAACAGGTGGGTCAGCTC CCACCCCCACCAACATTCCATCCCCGTCATATTCTGTCATGGGATAAGCA GGTGGATTTCTCAAGTTTCTGGGAAGGAATTTCACCCTGTCCTGGCTTCT TTGCTGGATTTATTTTTCTGATATTTCCCATGTACCTACTTTGAAGCTAG GCAGTGTGCTAGGCTCCGGGGATATAGGAAGGCAGGTCTTCCTGGATCCT ATCTGTTCTCCTGCACCTGATCCCAGCCTTCCTTCCTCCCCCATCTCAAC ACCAGCAGCTGCAGCTCAGCCTCTCTCGCCCAGCACCTCTTCCATTCCCA CCCTGGGATTCCTGAACCCTGTCACAATCTAAAGACGTTCCTCATCAGAC AGATCATTTGACCAGAAAGCCCTGTGCCAACATATCTGATTTCATCCTCC TCATGTTGCTGCACAACAGAAGATGAATTCACAATCCTTTCCTGCAGTCT CAGGCCTCTGCTCCATGCATCCTCCTCGAAGGGCCCTGGGGTCGAAGCAC AGCTCCTTCCATCCTTTTCATTCACACTCATCCAGGAGTGTTATTTTAAT CTCACAGGTCTCCTGCCCCATCCATCCTCACCTGTCCCAAATGATCACTC CACACGCTGCTGGTGGGAGTGTAAACTGGCACCACCCTAAGAAGCATGAT GTGGCTGTATCTATCAAAATTAAAAATGCATATGCCGGCCAGGCACGGTG GCTCACATAATCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGC AGGTGGATCACCTGAGGTGAGGAGTTTGAGACCAGCCAGGCCAACATGGT GGAACCTCATCTCCACAAAAAATACAAAATGAGCCGGGCGTGTTGACACA TGTCTGTAATTCCCAGCTACTTGGGAGGCTGAGCCAGGAGAATCTCTCGA ACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTTCA GCCTGGGCGACACAGCGAGATTCTGTCTCCAAAAAAAAAACAAAGGAATG ATAAATGTTCAAGATGATAAATATGCTAATTACTCTGATCTGATCACTAA ACATTATATGTACAGAAACATCCTTATGTACCCATAAATATGTACAATTA TTACATGTCAATTAAAAAGAAAACAGCCAGGCACAGTAGCTCATGGTGTA ACCCCAGCACTTGGGAAGGCCAAGGCGGCAGGACTGCTTCGGGCCATAGT TCAAGACCAGCCTGAGCAACATACCAAGACTTCATTTCTATTGTTTTTAA TAAATAAATAAAAGGAAAAGAAAGAAGATGTGTATACAAGAGAACATTCA TAGAGCACTGTTCCTAAGAACTCCACACTGGAAGCTACCCAAATGCCTAT GAACTGAAAAAGAGAAAATAGCGGGTATATTGATGCAGAGGAATAATACA CAGCAATGAAAATGACTGAGTAACAACTCCACACACCGCCATTCGTGGAT GCCTCTCCTAAACATGATTTTGAGCAAAGAAGCGCAATGCAAACTAAAGT GCTTGTTATGTGGTACTGCTTAGCAAAAGTACAAAAACAGGTGAAATGAA TCTTTGCTGTTTGGAAATCAGAGTAGTGATACGCTTGGTTTGGCCCTAGG ATAGTGACTGGGAAGAGCCTGGGGTGGGCTCCAGGGGTACCTGACATGCT CTTTTGCTGGGTCTGGGTTGTGGTTACACGTGTGTGCTTGGTTTGTGAAA ATTCATCAAGCTGTTTCTTATGATATGCACCTTTCTGTGTGCATATCATA TTTTGAGAAAAGTTTTAAAATGATCATGTAGATTTATAAAAATCACTTGT AAAATACAGAACCATGATTTTTCTTTTAAAAGCGGGTTCAGGTTGCAGAT AGAGTAGCGCAGCAGAAGTGAGCTGGGCCCATCAAAGCGGGTTGCTTGCA AAACAACATGTGCCATATCTTGTGGTCCTATATTTGTAAGTAAATCAATA TATTCATTTACTACGCCAGTGGTGGTTAGTTCTGGGTAGTGGGGTTAAAA GTCATTTTTAAAATTGTATTTATCTATAAATAATCTACAGTGATCATGTA TTACTTCTATACTTGAGCCAAAAAAGTTATCATCAATTTAGCTTTGAAAA CCTGCAGGCATCTCTGGAGAAGCAGCCCAGGTCTGGGACTGGGGAGTGGA AAACACAGTGTTCTCTTTGGTGTTGGAAGATCATGTCCCTGGGGTGAGAC CTTGATTGAAAGCTGCTAGGGGACCAGCTGCCCCAATGCCTATCACACCA GCTTGATAACACTTATCATGCTTAAGTGCTCCATCTCAGCCTTGCCATGA TTGGGTTCCTTAGATCTCATTCCATTGCTTGATTTGATTGGTTCATGGAA CATTTATGAACACCTGTGCCATTGGCAGGGGCTGCCCTGCATCAGAGACA CTGCTACCAGTCCCCCTGAAAGCCAGGCAATACCATACTGAGTGCCAGGC AGGGCTAATGGCAAAGCAAACGTTGCTGTCTAATCTTTCTGCCGGGCCAG TCTCGTACAATGAGATGTTGCGGCTTCCTTGCTGGCAGCCACGGATCAGC CCTGGCTGACAATCAGATCCCATGGGAGCACGTGGTTGCAGAATCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	304	0.0033	-12845	c.219 others(13): Show c.219+745_*5163del		PGA4	ENSG00000229183.10	transcript	ENST00000378149.9	protein_coding	3/9						chr11	TogoVar
PIGG_chr4_494210_545200	527165	C C	G G	stop_gained stop_gained	HIGH	HG02630.hp2 HG02630.hp2	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0002 a0016c0020t0002	a0016c0020t0002g0090 a0016c0020t0002g0090	1	360	0.0028	0	c.219 others(4): Show c.2196C>G	p.Tyr others(4): Show p.Tyr732*	PIGG	ENSG00000174227.16	transcript	ENST00000453061.7	protein_coding	10/13	2322/3909	2196/2952	732/983			chr4	TogoVar
PITRM1_chr10_3132728_3177782	3166375	T T	TGCACGCT others(18): Show TGCACGCTAGGGAAGAGAGAGGAATG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(276): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0015	a0001c0001 a0001c0002 a0001c0005 others(43): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0003c0008 a0003c0010 a0003c0035 a0003c0062 a0003c0063 a0003c0064 a0003c0065 a0003c0066 a0003c0067 a0006c0017 a0006c0060 a0015c0036	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(44): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0001c0009t0001 a0001c0011t0001 a0001c0011t0003 a0001c0012t0001 a0001c0013t0001 a0001c0015t0002 a0001c0016t0004 a0001c0019t0005 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0031t0003 a0001c0032t0001 a0001c0033t0001 a0001c0044t0002 a0001c0045t0002 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0051t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0004 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0003c0008t0001 a0003c0010t0001 a0003c0035t0001 a0003c0062t0001 a0003c0063t0001 a0003c0064t0001 a0003c0065t0001 a0003c0066t0001 a0003c0067t0001 a0006c0017t0001 a0006c0060t0001 a0015c0036t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(185): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0268 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0025 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0005t0002g0014 a0001c0005t0002g0015 a0001c0005t0002g0030 a0001c0005t0002g0052 a0001c0005t0002g0053 a0001c0005t0002g0212 a0001c0005t0002g0213 a0001c0005t0002g0214 a0001c0005t0002g0250 a0001c0005t0002g0252 a0001c0005t0002g0253 a0001c0005t0002g0254 a0001c0005t0002g0255 a0001c0005t0002g0258 a0001c0005t0002g0260 a0001c0005t0002g0262 a0001c0005t0002g0264 a0001c0005t0002g0265 a0001c0005t0002g0266 a0001c0005t0002g0267 a0001c0009t0001g0031 a0001c0009t0001g0083 a0001c0009t0001g0120 a0001c0009t0001g0132 a0001c0009t0001g0133 a0001c0009t0001g0135 a0001c0011t0001g0065 a0001c0011t0001g0067 a0001c0011t0001g0068 a0001c0011t0001g0081 a0001c0011t0001g0143 a0001c0011t0003g0082 a0001c0012t0001g0019 a0001c0012t0001g0131 a0001c0012t0001g0134 a0001c0013t0001g0024 a0001c0013t0001g0230 a0001c0013t0001g0244 a0001c0015t0002g0249 a0001c0015t0002g0256 a0001c0015t0002g0257 a0001c0015t0002g0261 a0001c0016t0004g0074 a0001c0016t0004g0075 a0001c0016t0004g0077 a0001c0016t0004g0078 a0001c0019t0005g0033 a0001c0019t0005g0121 a0001c0020t0001g0141 a0001c0020t0001g0142 a0001c0020t0001g0144 a0001c0021t0001g0066 a0001c0021t0001g0069 a0001c0021t0001g0101 a0001c0022t0001g0147 a0001c0022t0001g0148 a0001c0022t0001g0149 a0001c0028t0002g0054 a0001c0029t0001g0045 a0001c0030t0001g0051 a0001c0031t0003g0072 a0001c0031t0003g0073 a0001c0032t0001g0056 a0001c0033t0001g0032 a0001c0044t0002g0263 a0001c0045t0002g0259 a0001c0046t0001g0137 a0001c0047t0001g0235 a0001c0048t0001g0117 a0001c0049t0001g0109 a0001c0050t0001g0080 a0001c0051t0001g0246 a0001c0052t0001g0224 a0001c0053t0001g0084 a0001c0054t0004g0076 a0001c0055t0001g0140 a0001c0056t0001g0136 a0001c0057t0001g0079 a0001c0058t0001g0119 a0003c0008t0001g0060 a0003c0008t0001g0061 a0003c0008t0001g0292 a0003c0008t0001g0294 a0003c0008t0001g0295 a0003c0008t0001g0297 a0003c0008t0001g0298 a0003c0008t0001g0299 a0003c0010t0001g0059 a0003c0010t0001g0291 a0003c0010t0001g0300 a0003c0010t0001g0302 a0003c0010t0001g0305 a0003c0035t0001g0058 a0003c0062t0001g0296 a0003c0063t0001g0304 a0003c0064t0001g0306 a0003c0065t0001g0303 a0003c0066t0001g0293 a0003c0067t0001g0301 a0006c0017t0001g0284 a0006c0017t0001g0285 a0006c0017t0001g0286 a0006c0017t0001g0288 a0006c0060t0001g0287 a0015c0036t0002g0251	279	442	0.6312	25	c.271 others(32): Show c.271_272insCATTCCTCTCTCTTCCCTAGCGTGC	p.Gln others(4): Show p.Gln91fs	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	4/27	281/3427	271/3114	91/1037			chr10	TogoVar
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 a0012 a0013 a0014 a0021 a0026 a0028 a0036 a0037 a0041 a0042	a0003c0004 a0003c0016 a0003c0071 others(16): Show a0003c0004 a0003c0016 a0003c0071 a0003c0073 a0003c0074 a0004c0043 a0006c0006 a0012c0012 a0012c0053 a0013c0014 a0013c0059 a0014c0029 a0021c0022 a0026c0036 a0028c0033 a0036c0078 a0037c0060 a0041c0051 a0042c0049	a0003c0004t0001 a0003c0016t0001 a0003c0071t0001 others(16): Show a0003c0004t0001 a0003c0016t0001 a0003c0071t0001 a0003c0073t0001 a0003c0074t0001 a0004c0043t0001 a0006c0006t0001 a0012c0012t0001 a0012c0053t0001 a0013c0014t0001 a0013c0059t0001 a0014c0029t0001 a0021c0022t0001 a0026c0036t0001 a0028c0033t0001 a0036c0078t0001 a0037c0060t0002 a0041c0051t0001 a0042c0049t0001	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 a0003c0071t0001g0266 a0003c0073t0001g0149 a0003c0074t0001g0235 a0004c0043t0001g0137 a0006c0006t0001g0032 a0006c0006t0001g0035 a0006c0006t0001g0036 a0006c0006t0001g0037 a0006c0006t0001g0038 a0006c0006t0001g0039 a0006c0006t0001g0040 a0006c0006t0001g0041 a0006c0006t0001g0042 a0006c0006t0001g0044 a0006c0006t0001g0045 a0006c0006t0001g0046 a0012c0012t0001g0129 a0012c0012t0001g0138 a0012c0012t0001g0139 a0012c0012t0001g0140 a0012c0012t0001g0141 a0012c0012t0001g0142 a0012c0053t0001g0108 a0013c0014t0001g0055 a0013c0014t0001g0056 a0013c0014t0001g0078 a0013c0014t0001g0119 a0013c0014t0001g0120 a0013c0059t0001g0130 a0014c0029t0001g0001 a0021c0022t0001g0009 a0021c0022t0001g0021 a0026c0036t0001g0019 a0028c0033t0001g0010 a0036c0078t0001g0256 a0037c0060t0002g0302 a0041c0051t0001g0077 a0042c0049t0001g0073	64	306	0.2092	-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
PKD1L3_chr16_71924538_72005402	71967237	G G	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00423.hp2 HG00438.hp1 others(84): Show HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01975.hp1 HG01993.hp2 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18983.hp2 NA18985.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19054.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2	a0001 a0004 a0017 others(1): Show a0001 a0004 a0017 a0047	a0001c0001 a0001c0028 a0001c0062 others(14): Show a0001c0001 a0001c0028 a0001c0062 a0001c0064 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0004c0005 a0004c0009 a0004c0040 a0004c0041 a0004c0042 a0004c0043 a0017c0019 a0017c0023 a0047c0046	a0001c0001t0001 a0001c0028t0001 a0001c0062t0001 others(16): Show a0001c0001t0001 a0001c0028t0001 a0001c0062t0001 a0001c0064t0001 a0001c0066t0001 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0004c0005t0001 a0004c0005t0002 a0004c0005t0004 a0004c0009t0001 a0004c0040t0001 a0004c0041t0001 a0004c0042t0001 a0004c0043t0001 a0017c0019t0001 a0017c0023t0001 a0047c0046t0001	a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0157 others(84): Show a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0028t0001g0260 a0001c0028t0001g0263 a0001c0062t0001g0043 a0001c0064t0001g0188 a0001c0066t0001g0201 a0001c0067t0001g0176 a0001c0068t0001g0210 a0001c0069t0001g0186 a0004c0005t0001g0057 a0004c0005t0001g0074 a0004c0005t0001g0125 a0004c0005t0001g0126 a0004c0005t0001g0127 a0004c0005t0001g0128 a0004c0005t0001g0131 a0004c0005t0001g0136 a0004c0005t0002g0295 a0004c0005t0002g0296 a0004c0005t0002g0297 a0004c0005t0004g0308 a0004c0009t0001g0060 a0004c0009t0001g0061 a0004c0009t0001g0069 a0004c0009t0001g0085 a0004c0009t0001g0106 a0004c0009t0001g0109 a0004c0009t0001g0114 a0004c0009t0001g0115 a0004c0009t0001g0118 a0004c0009t0001g0273 a0004c0040t0001g0135 a0004c0041t0001g0124 a0004c0042t0001g0107 a0004c0043t0001g0137 a0017c0019t0001g0012 a0017c0019t0001g0015 a0017c0023t0001g0024 a0017c0023t0001g0025 a0047c0046t0001g0081	87	306	0.2843	0	c.236 others(4): Show c.2365C>T	p.Arg others(4): Show p.Arg789*	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	15/30	2789/5623	2365/5199	789/1732			chr16	TogoVar
PLA2G2C_chr1_20158055_20191518	20175089	G G	A A	stop_gained stop_gained	HIGH	HG00323.hp1 HG00609.hp2 HG00621.hp2 others(81): Show HG00323.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp2 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01891.hp2 HG01981.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18942.hp1 NA18944.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18964.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18990.hp1 NA19001.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0006 a0003c0003 a0003c0006	a0003c0003t0001 a0003c0003t0002 a0003c0006t0001 a0003c0003t0001 a0003c0003t0002 a0003c0006t0001	a0003c0003t0001g0002 a0003c0003t0001g0016 a0003c0003t0001g0025 others(57): Show a0003c0003t0001g0002 a0003c0003t0001g0016 a0003c0003t0001g0025 a0003c0003t0001g0027 a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0033 a0003c0003t0001g0037 a0003c0003t0001g0051 a0003c0003t0001g0061 a0003c0003t0001g0063 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0084 a0003c0003t0001g0086 a0003c0003t0001g0088 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0098 a0003c0003t0001g0102 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0113 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0127 a0003c0003t0001g0130 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0141 a0003c0003t0001g0164 a0003c0003t0001g0173 a0003c0003t0001g0199 a0003c0003t0001g0203 a0003c0003t0001g0205 a0003c0003t0001g0208 a0003c0003t0001g0218 a0003c0003t0001g0224 a0003c0003t0001g0244 a0003c0003t0001g0252 a0003c0003t0001g0264 a0003c0003t0002g0008 a0003c0003t0002g0064 a0003c0003t0002g0135 a0003c0003t0002g0140 a0003c0003t0002g0269 a0003c0006t0001g0092	84	406	0.2069	0	c.97C others(2): Show c.97C>T	p.Arg others(3): Show p.Arg33*	PLA2G2C	ENSG00000187980.7	transcript	ENST00000679259.1	protein_coding	3/5	332/1621	97/450	33/149			chr1	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(333): 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	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0005 a0004c0006 a0005c0004 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 a0003c0005t0002 a0004c0006t0001 a0005c0004t0005 a0006c0009t0008	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(330): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0001g0372 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0175 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0229 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0266 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0001t0002g0335 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0344 a0001c0001t0002g0349 a0001c0001t0002g0354 a0001c0001t0002g0359 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0003g0003 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0040 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0003g0101 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0128 a0001c0001t0003g0134 a0001c0001t0003g0137 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0178 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0254 a0001c0001t0003g0264 a0001c0001t0003g0276 a0001c0001t0003g0292 a0001c0001t0003g0296 a0001c0001t0003g0320 a0001c0001t0003g0328 a0001c0001t0003g0345 a0001c0001t0004g0032 a0001c0001t0004g0109 a0001c0001t0004g0115 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0236 a0001c0001t0004g0245 a0001c0001t0004g0257 a0001c0001t0004g0268 a0001c0001t0004g0285 a0001c0001t0004g0294 a0001c0001t0004g0313 a0001c0001t0004g0318 a0001c0001t0004g0347 a0001c0001t0004g0367 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0064 a0001c0001t0005g0203 a0001c0001t0005g0221 a0001c0001t0005g0300 a0001c0001t0005g0341 a0001c0001t0005g0346 a0001c0001t0005g0353 a0001c0001t0005g0358 a0001c0001t0006g0020 a0001c0001t0006g0097 a0001c0001t0006g0111 a0001c0001t0006g0267 a0001c0001t0006g0303 a0001c0001t0006g0315 a0001c0001t0006g0331 a0001c0001t0006g0337 a0001c0001t0006g0348 a0001c0001t0008g0012 a0001c0001t0008g0108 a0001c0001t0008g0225 a0001c0001t0008g0287 a0001c0001t0008g0291 a0001c0001t0008g0333 a0001c0001t0009g0001 a0001c0001t0009g0080 a0001c0001t0009g0089 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0228 a0001c0001t0010g0195 a0001c0001t0010g0259 a0001c0001t0010g0260 a0001c0001t0010g0278 a0001c0001t0010g0307 a0001c0001t0010g0314 a0001c0001t0012g0086 a0001c0001t0012g0193 a0001c0001t0012g0211 a0001c0001t0012g0213 a0001c0001t0012g0224 a0001c0001t0014g0208 a0001c0001t0014g0247 a0001c0001t0014g0248 a0001c0001t0014g0249 a0001c0001t0015g0179 a0001c0001t0015g0239 a0001c0001t0015g0286 a0001c0001t0015g0322 a0001c0001t0017g0061 a0001c0001t0017g0223 a0001c0001t0018g0130 a0001c0001t0018g0243 a0001c0001t0018g0373 a0001c0001t0019g0071 a0001c0001t0019g0090 a0001c0001t0020g0009 a0001c0001t0020g0073 a0001c0001t0021g0215 a0001c0001t0021g0277 a0001c0001t0022g0185 a0001c0001t0022g0186 a0001c0001t0023g0356 a0001c0001t0023g0357 a0001c0001t0024g0083 a0001c0001t0024g0091 a0001c0001t0025g0010 a0001c0001t0025g0072 a0001c0001t0026g0082 a0001c0001t0026g0084 a0001c0001t0030g0037 a0001c0001t0032g0094 a0001c0001t0033g0170 a0001c0001t0034g0210 a0001c0001t0035g0212 a0001c0001t0036g0306 a0001c0001t0037g0180 a0001c0001t0038g0234 a0001c0001t0039g0273 a0001c0001t0040g0265 a0001c0001t0041g0304 a0001c0001t0042g0241 a0001c0001t0043g0059 a0001c0001t0044g0289 a0001c0001t0045g0301 a0001c0001t0046g0197 a0001c0001t0047g0182 a0001c0001t0048g0366 a0001c0003t0001g0319 a0001c0008t0017g0371 a0002c0002t0001g0194 a0002c0002t0004g0070 a0002c0002t0031g0034 a0003c0005t0002g0332 a0004c0006t0001g0044 a0005c0004t0005g0351 a0006c0009t0008g0174	336	372	0.9032	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
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 a0011 others(1): Show a0001 a0006 a0011 a0012	a0001c0001 a0001c0007 a0001c0016 others(4): Show a0001c0001 a0001c0007 a0001c0016 a0001c0020 a0006c0009 a0011c0018 a0012c0013	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 a0001c0007t0008 a0001c0007t0076 a0001c0016t0001 a0001c0020t0005 a0006c0009t0001 a0011c0018t0011 a0012c0013t0050	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(149): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0165 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0004g0015 a0001c0001t0004g0042 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0265 a0001c0001t0004g0275 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0005g0009 a0001c0001t0005g0014 a0001c0001t0005g0039 a0001c0001t0005g0056 a0001c0001t0005g0183 a0001c0001t0005g0196 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0008g0008 a0001c0001t0008g0026 a0001c0001t0008g0036 a0001c0001t0008g0135 a0001c0001t0009g0034 a0001c0001t0009g0035 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0182 a0001c0001t0009g0272 a0001c0001t0011g0028 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0011g0150 a0001c0001t0011g0151 a0001c0001t0013g0209 a0001c0001t0022g0009 a0001c0001t0022g0038 a0001c0001t0023g0022 a0001c0001t0023g0115 a0001c0001t0023g0234 a0001c0001t0024g0245 a0001c0001t0024g0246 a0001c0001t0024g0248 a0001c0001t0028g0193 a0001c0001t0028g0194 a0001c0001t0030g0125 a0001c0001t0030g0126 a0001c0001t0031g0041 a0001c0001t0031g0227 a0001c0001t0032g0168 a0001c0001t0032g0169 a0001c0001t0037g0055 a0001c0001t0039g0065 a0001c0001t0041g0215 a0001c0001t0043g0179 a0001c0001t0047g0218 a0001c0001t0049g0123 a0001c0001t0051g0057 a0001c0001t0056g0022 a0001c0001t0057g0273 a0001c0001t0058g0041 a0001c0001t0059g0137 a0001c0001t0061g0042 a0001c0001t0065g0185 a0001c0001t0066g0186 a0001c0007t0008g0026 a0001c0007t0008g0132 a0001c0007t0008g0133 a0001c0007t0076g0305 a0001c0016t0001g0002 a0001c0020t0005g0210 a0006c0009t0001g0001 a0006c0009t0001g0025 a0006c0009t0001g0096 a0011c0018t0011g0145 a0012c0013t0050g0074	210	428	0.4907	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 a0004 a0001 a0004	a0001c0001 a0001c0011 a0004c0016 a0001c0001 a0001c0011 a0004c0016	a0001c0001t0001 a0001c0001t0009 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0011t0001 a0004c0016t0001	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 a0004c0016t0001g0027	58	158	0.3671	1	c.110 others(7): Show c.1102-3dupT		POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	12/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
POMZP3_chr7_76604986_76632279	76611468	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18963.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0002 a0004 a0005 others(3): Show a0002 a0004 a0005 a0006 a0008 a0010	a0002c0002 a0002c0007 a0002c0009 others(6): Show a0002c0002 a0002c0007 a0002c0009 a0002c0013 a0004c0004 a0005c0005 a0006c0006 a0008c0010 a0010c0011	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(25): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0016 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0029 a0002c0002t0030 a0002c0007t0003 a0002c0009t0003 a0002c0013t0004 a0004c0004t0003 a0004c0004t0013 a0004c0004t0018 a0005c0005t0004 a0006c0006t0003 a0008c0010t0003 a0010c0011t0001	a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 others(182): Show a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0155 a0002c0002t0003g0009 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0159 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0185 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0189 a0002c0002t0003g0193 a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0201 a0002c0002t0004g0202 a0002c0002t0004g0212 a0002c0002t0004g0213 a0002c0002t0004g0214 a0002c0002t0004g0215 a0002c0002t0004g0216 a0002c0002t0004g0217 a0002c0002t0004g0218 a0002c0002t0004g0219 a0002c0002t0004g0220 a0002c0002t0004g0221 a0002c0002t0004g0222 a0002c0002t0004g0223 a0002c0002t0004g0224 a0002c0002t0004g0225 a0002c0002t0004g0226 a0002c0002t0004g0227 a0002c0002t0004g0228 a0002c0002t0004g0229 a0002c0002t0004g0230 a0002c0002t0004g0231 a0002c0002t0004g0232 a0002c0002t0004g0233 a0002c0002t0004g0234 a0002c0002t0004g0235 a0002c0002t0004g0236 a0002c0002t0004g0237 a0002c0002t0004g0238 a0002c0002t0004g0239 a0002c0002t0004g0240 a0002c0002t0004g0241 a0002c0002t0004g0242 a0002c0002t0004g0244 a0002c0002t0007g0028 a0002c0002t0007g0248 a0002c0002t0007g0249 a0002c0002t0007g0250 a0002c0002t0007g0251 a0002c0002t0008g0018 a0002c0002t0008g0157 a0002c0002t0008g0158 a0002c0002t0011g0042 a0002c0002t0011g0338 a0002c0002t0013g0051 a0002c0002t0014g0012 a0002c0002t0015g0203 a0002c0002t0015g0204 a0002c0002t0016g0245 a0002c0002t0016g0246 a0002c0002t0022g0090 a0002c0002t0023g0154 a0002c0002t0024g0156 a0002c0002t0025g0199 a0002c0002t0026g0200 a0002c0002t0027g0160 a0002c0002t0029g0337 a0002c0002t0030g0339 a0002c0007t0003g0023 a0002c0009t0003g0161 a0002c0013t0004g0243 a0004c0004t0003g0181 a0004c0004t0003g0182 a0004c0004t0003g0190 a0004c0004t0003g0191 a0004c0004t0003g0192 a0004c0004t0003g0194 a0004c0004t0003g0195 a0004c0004t0003g0196 a0004c0004t0003g0198 a0004c0004t0013g0052 a0004c0004t0018g0043 a0005c0005t0004g0205 a0005c0005t0004g0206 a0005c0005t0004g0207 a0005c0005t0004g0208 a0005c0005t0004g0209 a0005c0005t0004g0210 a0006c0006t0003g0022 a0006c0006t0003g0188 a0008c0010t0003g0197 a0010c0011t0001g0269	211	422	0.5000	-1	c.560 others(4): Show c.560delT	p.Leu others(5): Show p.Leu187fs	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	6/7	1283/1528	560/564	187/187			chr7	TogoVar
PPP2R3A_chr3_135960728_136152894	136145062	G G	GATGA GATGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02630.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG02630.hp2 HG02896.hp2 HG02897.hp1 HG03516.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0213 a0007c0008t0001g0232 a0007c0008t0001g0233 others(1): Show a0007c0008t0001g0213 a0007c0008t0001g0232 a0007c0008t0001g0233 a0007c0008t0001g0234	4	236	0.0169	4	c.335 others(13): Show c.3351_3354dupTGAA	p.Pro others(6): Show p.Pro1119fs	PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	14/14	3917/6743	3355/3453	1119/1150		INFO_REALIGN_3_PRIME	chr3	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 a0004 others(23): Show a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0011 a0014 a0015 a0016 a0018 a0025 a0028 a0029 a0031 a0036 a0040 a0042 a0043 a0044 a0045 a0046 a0047 a0051 a0054	a0002c0002 a0003c0003 a0004c0005 others(46): Show a0002c0002 a0003c0003 a0004c0005 a0004c0067 a0004c0076 a0004c0077 a0004c0078 a0006c0006 a0006c0070 a0006c0086 a0007c0016 a0007c0032 a0007c0033 a0007c0071 a0007c0084 a0007c0085 a0008c0015 a0008c0027 a0008c0028 a0008c0029 a0008c0075 a0010c0030 a0010c0031 a0010c0082 a0010c0083 a0011c0013 a0011c0026 a0014c0010 a0015c0024 a0015c0025 a0016c0017 a0016c0090 a0018c0034 a0018c0093 a0025c0080 a0025c0081 a0028c0035 a0029c0091 a0031c0088 a0036c0079 a0040c0069 a0042c0074 a0043c0072 a0044c0089 a0045c0068 a0046c0092 a0047c0073 a0051c0094 a0054c0087	a0002c0002t0002 a0003c0003t0002 a0004c0005t0002 others(47): Show a0002c0002t0002 a0003c0003t0002 a0004c0005t0002 a0004c0067t0002 a0004c0076t0002 a0004c0077t0002 a0004c0078t0002 a0006c0006t0002 a0006c0070t0002 a0006c0086t0001 a0007c0016t0002 a0007c0016t0004 a0007c0032t0002 a0007c0033t0002 a0007c0071t0002 a0007c0084t0002 a0007c0085t0002 a0008c0015t0002 a0008c0027t0002 a0008c0028t0002 a0008c0029t0002 a0008c0075t0002 a0010c0030t0002 a0010c0031t0002 a0010c0082t0002 a0010c0083t0002 a0011c0013t0002 a0011c0026t0002 a0014c0010t0002 a0015c0024t0002 a0015c0025t0002 a0016c0017t0002 a0016c0090t0002 a0018c0034t0002 a0018c0093t0002 a0025c0080t0002 a0025c0081t0002 a0028c0035t0002 a0029c0091t0002 a0031c0088t0002 a0036c0079t0002 a0040c0069t0002 a0042c0074t0002 a0043c0072t0002 a0044c0089t0002 a0045c0068t0002 a0046c0092t0001 a0047c0073t0002 a0051c0094t0002 a0054c0087t0001	a0002c0002t0002g0008 a0002c0002t0002g0053 a0002c0002t0002g0054 others(96): Show a0002c0002t0002g0008 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0218 a0002c0002t0002g0225 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0245 a0002c0002t0002g0252 a0003c0003t0002g0011 a0003c0003t0002g0206 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0209 a0003c0003t0002g0210 a0003c0003t0002g0211 a0003c0003t0002g0212 a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0230 a0003c0003t0002g0231 a0003c0003t0002g0233 a0004c0005t0002g0048 a0004c0005t0002g0052 a0004c0005t0002g0176 a0004c0005t0002g0180 a0004c0005t0002g0181 a0004c0005t0002g0194 a0004c0005t0002g0241 a0004c0067t0002g0193 a0004c0076t0002g0177 a0004c0077t0002g0184 a0004c0078t0002g0182 a0006c0006t0002g0024 a0006c0006t0002g0197 a0006c0006t0002g0198 a0006c0006t0002g0220 a0006c0006t0002g0221 a0006c0006t0002g0222 a0006c0070t0002g0192 a0006c0086t0001g0173 a0007c0016t0002g0240 a0007c0016t0004g0051 a0007c0032t0002g0187 a0007c0032t0002g0188 a0007c0033t0002g0196 a0007c0033t0002g0219 a0007c0071t0002g0183 a0007c0084t0002g0186 a0007c0085t0002g0189 a0008c0015t0002g0050 a0008c0015t0002g0248 a0008c0027t0002g0058 a0008c0028t0002g0047 a0008c0029t0002g0046 a0008c0075t0002g0179 a0010c0030t0002g0049 a0010c0031t0002g0242 a0010c0031t0002g0243 a0010c0082t0002g0185 a0010c0083t0002g0239 a0011c0013t0002g0023 a0011c0013t0002g0190 a0011c0026t0002g0055 a0014c0010t0002g0056 a0014c0010t0002g0235 a0014c0010t0002g0236 a0014c0010t0002g0237 a0015c0024t0002g0249 a0015c0024t0002g0250 a0015c0025t0002g0059 a0016c0017t0002g0216 a0016c0017t0002g0217 a0016c0017t0002g0232 a0016c0090t0002g0246 a0018c0034t0002g0204 a0018c0034t0002g0205 a0018c0093t0002g0215 a0025c0080t0002g0247 a0025c0081t0002g0238 a0028c0035t0002g0057 a0029c0091t0002g0226 a0031c0088t0002g0223 a0036c0079t0002g0195 a0040c0069t0002g0244 a0042c0074t0002g0178 a0043c0072t0002g0224 a0044c0089t0002g0251 a0045c0068t0002g0191 a0046c0092t0001g0175 a0047c0073t0002g0234 a0051c0094t0002g0253 a0054c0087t0001g0174	128	420	0.3048	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
PRAMEF13_chr1_13191188_13206409	13198880	A A	T T	stop_gained stop_gained	HIGH	HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show HG02280.hp2 HG02602.hp2 HG02630.hp1 HG02965.hp1 HG03017.hp1 HG03471.hp2 HG03831.hp1 HG03831.hp2 NA19000.hp2 NA19043.hp2	a0003 a0005 a0008 others(1): Show a0003 a0005 a0008 a0011	a0003c0005 a0003c0006 a0005c0012 others(5): Show a0003c0005 a0003c0006 a0005c0012 a0005c0015 a0005c0016 a0008c0010 a0008c0011 a0011c0017	a0003c0005t0003 a0003c0006t0003 a0005c0012t0003 others(5): Show a0003c0005t0003 a0003c0006t0003 a0005c0012t0003 a0005c0015t0003 a0005c0016t0009 a0008c0010t0008 a0008c0011t0008 a0011c0017t0003	a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(6): Show a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 a0005c0012t0003g0011 a0005c0015t0003g0024 a0005c0016t0009g0025 a0008c0010t0008g0026 a0008c0011t0008g0027 a0011c0017t0003g0014	10	52	0.1923	0	c.314 others(3): Show c.314T>A	p.Leu others(4): Show p.Leu105*	PRAMEF13	ENSG00000279169.3	transcript	ENST00000625019.3	protein_coding	3/4	417/2163	314/1425	105/474			chr1	TogoVar
PRAMEF26_chr1_13143907_13161009	13151737	G G	T T	stop_gained stop_gained	HIGH	HG02630.hp1 NA18522.hp1 HG02630.hp1 NA18522.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0102 a0010c0010t0001g0103 a0010c0010t0001g0102 a0010c0010t0001g0103	2	228	0.0088	0	c.687 others(3): Show c.687C>A	p.Tyr others(4): Show p.Tyr229*	PRAMEF26	ENSG00000280267.7	transcript	ENST00000624207.2	protein_coding	3/4	829/1909	687/1437	229/478			chr1	TogoVar
PRSS48_chr4_151272161_151296862	151291451	T T	G G	stop_lost stop_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): 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	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0003c0003t0001 a0004c0004t0004 a0005c0006t0002 a0006c0007t0004	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(98): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0005t0001g0124 a0001c0005t0001g0125 a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0005g0001 a0002c0002t0005g0062 a0002c0002t0006g0001 a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0026 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0130 a0003c0003t0001g0131 a0004c0004t0004g0009 a0004c0004t0004g0022 a0004c0004t0004g0039 a0004c0004t0004g0081 a0004c0004t0004g0082 a0005c0006t0002g0059 a0006c0007t0004g0132	324	426	0.7606	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
PSG7_chr19_42919132_42942207	42935542	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(372): 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	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0005c0018 a0008c0017 a0010c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0002 a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 a0001c0006t0001 a0001c0007t0002 a0001c0009t0002 a0001c0010t0002 a0001c0011t0002 a0001c0012t0001 a0001c0013t0001 a0001c0014t0002 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0005c0018t0001 a0008c0017t0002 a0010c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0044 a0001c0001t0002g0097 a0001c0001t0006g0205 a0001c0001t0007g0115 a0001c0001t0008g0164 a0001c0001t0009g0165 a0001c0001t0011g0213 a0001c0001t0012g0214 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0010g0074 a0001c0004t0002g0038 a0001c0004t0002g0039 a0001c0004t0002g0040 a0001c0004t0002g0041 a0001c0004t0002g0118 a0001c0005t0002g0042 a0001c0005t0002g0094 a0001c0005t0002g0095 a0001c0005t0002g0113 a0001c0005t0002g0119 a0001c0006t0001g0026 a0001c0006t0001g0204 a0001c0007t0002g0016 a0001c0009t0002g0030 a0001c0009t0002g0063 a0001c0010t0002g0020 a0001c0011t0002g0091 a0001c0011t0002g0139 a0001c0012t0001g0036 a0001c0013t0001g0168 a0001c0013t0001g0177 a0001c0014t0002g0064 a0001c0014t0002g0065 a0001c0020t0002g0078 a0001c0021t0002g0120 a0001c0022t0001g0175 a0001c0023t0001g0116 a0001c0024t0001g0184 a0005c0018t0001g0153 a0008c0017t0002g0081 a0010c0027t0002g0138	375	414	0.9058	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
PSG8_chr19_42749233_42770678	42763988	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00609.hp2 HG00738.hp2 others(33): Show HG00280.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01175.hp2 HG01346.hp2 HG01496.hp2 HG01891.hp1 HG01993.hp2 HG02040.hp1 HG02145.hp1 HG02273.hp2 HG02293.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03579.hp2 HG03688.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18947.hp1 NA18950.hp1 NA18956.hp2 NA19240.hp2 NA20752.hp2	a0003 a0009 a0011 others(3): Show a0003 a0009 a0011 a0018 a0019 a0027	a0003c0003 a0003c0005 a0003c0013 others(6): Show a0003c0003 a0003c0005 a0003c0013 a0003c0031 a0009c0014 a0011c0035 a0018c0034 a0019c0032 a0027c0029	a0003c0003t0001 a0003c0005t0001 a0003c0013t0001 others(6): Show a0003c0003t0001 a0003c0005t0001 a0003c0013t0001 a0003c0031t0001 a0009c0014t0001 a0011c0035t0001 a0018c0034t0001 a0019c0032t0001 a0027c0029t0001	a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0157 others(17): Show a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0157 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0003t0001g0201 a0003c0005t0001g0042 a0003c0005t0001g0043 a0003c0005t0001g0149 a0003c0005t0001g0150 a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0013t0001g0153 a0003c0013t0001g0156 a0003c0031t0001g0202 a0009c0014t0001g0045 a0011c0035t0001g0205 a0018c0034t0001g0155 a0019c0032t0001g0154 a0027c0029t0001g0204	36	436	0.0826	-1	c.357 others(4): Show c.357delC	p.Tyr others(5): Show p.Tyr120fs	PSG8	ENSG00000124467.20	transcript	ENST00000306511.5	protein_coding	2/5	454/1440	357/1281	119/426			chr19	TogoVar
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	a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 others(25): Show a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 a0004c0005t0003g0011 a0004c0005t0003g0016 a0004c0005t0003g0169 a0004c0005t0003g0170 a0004c0005t0003g0171 a0004c0005t0003g0178 a0004c0005t0003g0179 a0004c0005t0003g0180 a0004c0005t0003g0186 a0004c0005t0003g0189 a0004c0005t0005g0226 a0004c0005t0006g0024 a0004c0005t0006g0163 a0004c0005t0006g0164 a0004c0005t0006g0165 a0004c0005t0021g0235 a0006c0006t0004g0002 a0006c0006t0004g0018 a0006c0006t0004g0028 a0006c0006t0004g0056 a0006c0006t0004g0057 a0006c0006t0004g0221 a0006c0006t0004g0222 a0006c0006t0004g0223 a0006c0013t0019g0225	57	414	0.1377	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
PSORS1C2_chr6_31132534_31144066	31138080	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01071.hp1 HG01192.hp2 others(8): Show HG01069.hp1 HG01071.hp1 HG01192.hp2 HG01981.hp1 HG02602.hp1 HG02630.hp1 HG02735.hp1 HG03225.hp1 HG03239.hp1 HG04184.hp1 HG04228.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0011 a0004c0004t0002 a0004c0004t0011	a0004c0004t0002g0029 a0004c0004t0002g0032 a0004c0004t0002g0043 others(2): Show a0004c0004t0002g0029 a0004c0004t0002g0032 a0004c0004t0002g0043 a0004c0004t0002g0082 a0004c0004t0011g0081	11	460	0.0239	-1	c.281 others(4): Show c.281delC	p.Pro others(4): Show p.Pro94fs	PSORS1C2	ENSG00000204538.4	transcript	ENST00000259845.5	protein_coding	2/2	321/868	281/411	94/136			chr6	TogoVar
PTPN23_chr3_47376021_47418435	47411089	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18987.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0002 a0004 a0005 others(6): Show a0002 a0004 a0005 a0006 a0010 a0013 a0015 a0016 a0020	a0002c0004 a0002c0008 a0002c0009 others(17): Show a0002c0004 a0002c0008 a0002c0009 a0002c0012 a0002c0016 a0002c0030 a0002c0031 a0004c0003 a0004c0025 a0005c0007 a0005c0028 a0005c0029 a0005c0041 a0006c0011 a0006c0038 a0010c0036 a0013c0018 a0015c0043 a0016c0021 a0020c0024	a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 others(18): Show a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 a0002c0009t0001 a0002c0012t0001 a0002c0016t0001 a0002c0030t0001 a0002c0031t0001 a0004c0003t0001 a0004c0025t0001 a0005c0007t0001 a0005c0028t0001 a0005c0029t0001 a0005c0041t0001 a0006c0011t0001 a0006c0038t0001 a0010c0036t0001 a0013c0018t0001 a0015c0043t0001 a0016c0021t0001 a0020c0024t0001	a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 others(118): Show a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0016 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0004t0001g0020 a0002c0004t0001g0022 a0002c0004t0001g0037 a0002c0004t0001g0040 a0002c0004t0001g0042 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0051 a0002c0004t0001g0058 a0002c0004t0001g0060 a0002c0004t0001g0070 a0002c0004t0001g0071 a0002c0004t0001g0074 a0002c0004t0001g0075 a0002c0004t0001g0081 a0002c0004t0001g0084 a0002c0004t0001g0085 a0002c0004t0001g0086 a0002c0004t0001g0088 a0002c0004t0001g0094 a0002c0004t0001g0100 a0002c0004t0001g0118 a0002c0004t0001g0120 a0002c0004t0001g0219 a0002c0004t0001g0240 a0002c0008t0001g0004 a0002c0008t0001g0007 a0002c0008t0001g0113 a0002c0008t0001g0222 a0002c0008t0001g0225 a0002c0008t0001g0228 a0002c0008t0001g0230 a0002c0008t0001g0231 a0002c0008t0003g0235 a0002c0009t0001g0006 a0002c0009t0001g0009 a0002c0009t0001g0125 a0002c0009t0001g0128 a0002c0009t0001g0130 a0002c0009t0001g0131 a0002c0009t0001g0139 a0002c0009t0001g0141 a0002c0012t0001g0005 a0002c0012t0001g0103 a0002c0012t0001g0104 a0002c0012t0001g0107 a0002c0012t0001g0121 a0002c0016t0001g0154 a0002c0016t0001g0161 a0002c0030t0001g0004 a0002c0031t0001g0133 a0004c0003t0001g0003 a0004c0003t0001g0015 a0004c0003t0001g0024 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0031 a0004c0003t0001g0032 a0004c0003t0001g0110 a0004c0003t0001g0115 a0004c0003t0001g0127 a0004c0003t0001g0142 a0004c0003t0001g0156 a0004c0003t0001g0158 a0004c0003t0001g0162 a0004c0003t0001g0163 a0004c0003t0001g0166 a0004c0003t0001g0167 a0004c0003t0001g0169 a0004c0003t0001g0172 a0004c0003t0001g0179 a0004c0003t0001g0183 a0004c0003t0001g0187 a0004c0003t0001g0189 a0004c0003t0001g0194 a0004c0003t0001g0195 a0004c0003t0001g0196 a0004c0003t0001g0200 a0004c0003t0001g0209 a0004c0003t0001g0212 a0004c0003t0001g0213 a0004c0003t0001g0214 a0004c0003t0001g0216 a0004c0003t0001g0238 a0004c0025t0001g0191 a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0016 a0005c0007t0001g0021 a0005c0007t0001g0061 a0005c0007t0001g0063 a0005c0007t0001g0069 a0005c0007t0001g0082 a0005c0007t0001g0099 a0005c0007t0001g0117 a0005c0007t0001g0119 a0005c0028t0001g0236 a0005c0029t0001g0134 a0005c0041t0001g0005 a0006c0011t0001g0027 a0006c0011t0001g0111 a0006c0011t0001g0132 a0006c0011t0001g0147 a0006c0011t0001g0165 a0006c0011t0001g0168 a0006c0011t0001g0203 a0006c0011t0001g0205 a0006c0038t0001g0176 a0010c0036t0001g0003 a0013c0018t0001g0030 a0015c0043t0001g0239 a0016c0021t0001g0174 a0020c0024t0001g0190	135	330	0.4091	1	c.329 others(5): Show c.3296dupC	p.Arg others(6): Show p.Arg1100fs	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding	20/25	3373/5237	3297/4911	1099/1636		INFO_REALIGN_3_PRIME	chr3	TogoVar
PYGL_chr14_50900217_50949483	50911872	CT CT	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0015 a0001c0017 a0001c0021 a0002c0004 a0002c0008 a0002c0016 a0003c0010 a0003c0019 a0004c0011 a0004c0022 a0005c0013 a0007c0020 a0008c0023	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 a0007c0020t0001 a0008c0023t0002	a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 others(187): Show a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0130 a0001c0001t0002g0157 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0003g0115 a0001c0001t0003g0136 a0001c0001t0005g0289 a0001c0002t0001g0220 a0001c0002t0003g0001 a0001c0002t0003g0006 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0037 a0001c0002t0003g0040 a0001c0002t0003g0042 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0088 a0001c0002t0003g0113 a0001c0002t0003g0129 a0001c0002t0003g0169 a0001c0002t0003g0175 a0001c0002t0003g0188 a0001c0002t0003g0210 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0226 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0251 a0001c0002t0003g0258 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0003t0002g0007 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0062 a0001c0003t0002g0063 a0001c0003t0002g0066 a0001c0003t0002g0068 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0005t0002g0005 a0001c0005t0002g0015 a0001c0005t0002g0041 a0001c0005t0002g0194 a0001c0005t0002g0195 a0001c0005t0002g0196 a0001c0005t0002g0197 a0001c0005t0002g0198 a0001c0005t0002g0199 a0001c0005t0002g0201 a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0002g0204 a0001c0006t0001g0160 a0001c0006t0002g0011 a0001c0006t0002g0034 a0001c0006t0002g0049 a0001c0006t0002g0132 a0001c0006t0002g0140 a0001c0006t0002g0158 a0001c0006t0002g0159 a0001c0006t0002g0161 a0001c0006t0002g0174 a0001c0006t0002g0178 a0001c0006t0002g0200 a0001c0006t0002g0250 a0001c0006t0002g0271 a0001c0006t0002g0272 a0001c0007t0001g0282 a0001c0007t0002g0052 a0001c0007t0002g0274 a0001c0007t0002g0275 a0001c0007t0002g0276 a0001c0007t0002g0280 a0001c0007t0002g0281 a0001c0007t0002g0283 a0001c0007t0002g0284 a0001c0007t0002g0285 a0001c0007t0002g0286 a0001c0009t0002g0057 a0001c0009t0002g0058 a0001c0009t0002g0064 a0001c0009t0003g0067 a0001c0009t0003g0077 a0001c0009t0003g0087 a0001c0012t0002g0056 a0001c0012t0002g0072 a0001c0012t0002g0073 a0001c0015t0003g0043 a0001c0017t0002g0078 a0001c0021t0002g0278 a0002c0004t0001g0029 a0002c0004t0001g0091 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0097 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0101 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0162 a0002c0004t0001g0163 a0002c0004t0001g0164 a0002c0004t0001g0165 a0002c0004t0001g0262 a0002c0008t0001g0025 a0002c0008t0001g0026 a0002c0008t0001g0065 a0002c0008t0001g0074 a0002c0008t0001g0075 a0002c0008t0001g0076 a0002c0008t0003g0071 a0002c0016t0003g0070 a0003c0010t0002g0020 a0003c0010t0002g0060 a0003c0010t0003g0021 a0003c0010t0003g0022 a0003c0010t0003g0059 a0003c0010t0003g0061 a0003c0019t0002g0269 a0004c0011t0002g0035 a0004c0011t0002g0166 a0004c0011t0002g0167 a0004c0022t0002g0277 a0005c0013t0002g0008 a0007c0020t0001g0279 a0008c0023t0002g0287	253	388	0.6521	-1	c.182 others(7): Show c.1828-2delA		PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding	15/19						chr14	TogoVar
R3HDM2_chr12_57248764_57436043	57268351	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG01099.hp2 HG02630.hp1 others(5): Show HG01099.hp1 HG01099.hp2 HG02630.hp1 HG03098.hp2 NA18940.hp1 NA18964.hp1 NA19067.hp2 NA19082.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0010 a0003c0004 a0003c0007 a0003c0010	a0003c0004t0001 a0003c0004t0003 a0003c0007t0001 others(2): Show a0003c0004t0001 a0003c0004t0003 a0003c0007t0001 a0003c0007t0002 a0003c0010t0002	a0003c0004t0001g0221 a0003c0004t0001g0266 a0003c0004t0001g0274 others(5): Show a0003c0004t0001g0221 a0003c0004t0001g0266 a0003c0004t0001g0274 a0003c0004t0003g0181 a0003c0007t0001g0110 a0003c0007t0002g0038 a0003c0007t0002g0090 a0003c0010t0002g0098	8	334	0.0240	1	c.198 others(5): Show c.1981dupG	p.Val others(5): Show p.Val661fs	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	18/24	2410/4411	1981/2973	661/990			chr12	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 a0001c0001t0002g0059 others(1): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0059 a0001c0001t0002g0064	14	264	0.0530	-3	c.-70 others(12): Show c.-70-1_-69delGAA		RAB40A	ENSG00000172476.4	transcript	ENST00000304236.2	protein_coding	3/3				69		chrX	TogoVar
RAMACL_chr6_166578009_166591678	166585488	TCAAACAA others(1183): Show TCAAACAAGTCTTTTTTTTTTTTTTTTTTTTTCCTTATTTTACAGCTTTA TTACTGATTTCCCTCTAAAAAGAGACTCAAGTGTGGAGCTGACTCATCTA TAGATTAAGGAATCACAAAGTACCATAGTCACTTAACAAATGCAAAAAAA AAAAAAAGCAATTGTTTTACCTTTCAACTGCTGATGTTATGTACAATCTA TCACAAAAAGCATAGCTGTGCATTCATGAGCTGATTATATCAACCTCTAG AATTTTAGAAACGAGCACATCTAAGCATATGGATACTCTCTTACCTTACA AAGTAAAAGCATTTTCTATTTTAAAATTTTTATTTCTGTGTAAAACAAAG AATTCCTAGAGGTCAAATAATATACCAAACTTAAAGCACTATTAAGTCAT GAAACAAAGAAGATTCTGAGGTAGAAGTCAAGCAATATAATCCACAGTTT CAGGTATTCCCAGCAACCATCGCATTTCGCAAGTAAGATCTATTTTTTTT AAAGTCTCAACTTCCAAAAAATCAATAATCCATTCTGTAAAATCAGATGT AAAACTATGACCAACAGAAGACACCCAAACTTTTCTCATGGTAACAGAGT AAATGCTTTTACTAAAAGCTGCCAACATTTCTATCAGTAGTAACCGTAAG GAGGCCGCTGGTTGTAACCATAATGTCCATATTGCTGGGGATAGTAAGGT TCTTGTCTGTGTTGCGGGTAGTTGTTACCCCAGGATCGTCCATGCCACTG ATTGGATCGATTGTCACTTGGCCACCCCCATCTGTTGTCCCTGCCTCTGA ACTGTCTGTTGTCTTGCAACCGATTGCCTCTGTTTCTTTGGTTCCCACCA GCTCTGCTATTCCATTCCTCAACAATTGGAGGAGACTCAGGAGGGCGTTT CAGGTATTCCTGATACTCCTTGTCATTTTCTGTGAATCTACTAGCAAACA TCTCTTCAAAATTTGGAACAGCTTCGGCAGTGTCAGTCATTCTGAAAATC CCAAAGGTTTGAGGCAGCTGTATTGCTTAATGTTTAGGTTGTTTAAATCC GCCAAGGGCTATGTCTATCCAGCTCAGGCCGAACCCCGCCGGCGAGACAC TGAGAAGCCCAGGAGAGGTGGCCTCTGGTCCACTACACCGTGGAACTCCA GACCACTCCAGTTCTCCAATGTAACCGAGCGCCTTCCTCTC	T T	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG01070.hp1 HG01071.hp1 HG01167.hp1 others(40): Show HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0004 a0002c0000t0006 a0002c0000t0008 others(3): Show a0002c0000t0004 a0002c0000t0006 a0002c0000t0008 a0002c0000t0009 a0002c0000t0030 a0002c0000t0031	a0002c0000t0004g0000 a0002c0000t0006g0000 a0002c0000t0008g0000 others(3): Show a0002c0000t0004g0000 a0002c0000t0006g0000 a0002c0000t0008g0000 a0002c0000t0009g0000 a0002c0000t0030g0000 a0002c0000t0031g0000	43	440	0.0977	-1190	c.-20 others(9): Show c.-201_*632del	p.Met others(3): Show p.Met1fs	RAMACL	ENSG00000235272.3	transcript	ENST00000444122.3	protein_coding	1/1	1190/3670	1/357	1/118			chr6	TogoVar
RESP18_chr2_219322407_219338177	219333111	ATATAATA others(95): Show ATATAATATTATATATTATATATTATATATGGCACATCCATCCACTTTAC TCCACATCCACTGCCATCGCCTTGGTCCAAACCACTGCACACTGTACTTT TTT	A A	exon_loss_variant others(3): Show exon_loss_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0029 a0008c0011t0001g0029	1	418	0.0024	-102	c.-36 others(9): Show c.-36_17+49del		RESP18	ENSG00000182698.12	transcript	ENST00000333527.6	protein_coding	1/7						chr2	TogoVar
RFPL1_chr22_29433583_29447455	29441895	C C	T T	stop_gained stop_gained	HIGH	HG00642.hp2 HG01074.hp1 HG01192.hp2 others(32): Show HG00642.hp2 HG01074.hp1 HG01192.hp2 HG01255.hp1 HG01496.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02886.hp2 HG02970.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 NA18939.hp1 NA18940.hp1 NA18982.hp1 NA18983.hp1 NA19043.hp2 NA19070.hp1 NA19240.hp2 NA20805.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0003c0012 a0006c0009 a0003c0003 a0003c0012 a0006c0009	a0003c0003t0003 a0003c0012t0003 a0006c0009t0003 a0003c0003t0003 a0003c0012t0003 a0006c0009t0003	a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0003g0014 others(4): Show a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0003g0014 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0012t0003g0020 a0006c0009t0003g0009	35	442	0.0792	0	c.727 others(3): Show c.727C>T	p.Gln others(4): Show p.Gln243*	RFPL1	ENSG00000128250.5	transcript	ENST00000354373.2	protein_coding	2/2	936/1496	727/954	243/317			chr22	TogoVar
RHBG_chr1_156364211_156390219	156384556	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): 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	a0002 a0003 a0005 others(7): Show a0002 a0003 a0005 a0007 a0008 a0011 a0012 a0013 a0014 a0016	a0002c0002 a0002c0008 a0002c0019 others(16): Show a0002c0002 a0002c0008 a0002c0019 a0002c0021 a0003c0004 a0003c0009 a0003c0012 a0003c0015 a0005c0006 a0005c0007 a0007c0011 a0007c0014 a0008c0010 a0008c0022 a0011c0023 a0012c0020 a0013c0016 a0014c0017 a0016c0026	a0002c0002t0001 a0002c0008t0001 a0002c0019t0001 others(16): Show a0002c0002t0001 a0002c0008t0001 a0002c0019t0001 a0002c0021t0001 a0003c0004t0001 a0003c0009t0001 a0003c0012t0001 a0003c0015t0001 a0005c0006t0001 a0005c0007t0001 a0007c0011t0001 a0007c0014t0001 a0008c0010t0001 a0008c0022t0001 a0011c0023t0001 a0012c0020t0001 a0013c0016t0001 a0014c0017t0001 a0016c0026t0001	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 a0002c0019t0001g0225 a0002c0021t0001g0003 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 a0011c0023t0001g0014 a0012c0020t0001g0221 a0013c0016t0001g0141 a0014c0017t0001g0033 a0016c0026t0001g0003	231	436	0.5298	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
RLN1_chr9_5329930_5344876	5339671	T T	A A	stop_gained stop_gained	HIGH	HG01099.hp2 HG02055.hp2 HG02083.hp2 others(6): Show HG01099.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02630.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG03098.hp1	a0003 a0005 a0006 a0003 a0005 a0006	a0003c0005 a0005c0007 a0006c0009 a0003c0005 a0005c0007 a0006c0009	a0003c0005t0001 a0003c0005t0006 a0005c0007t0001 others(2): Show a0003c0005t0001 a0003c0005t0006 a0005c0007t0001 a0005c0007t0003 a0006c0009t0002	a0003c0005t0001g0009 a0003c0005t0006g0016 a0005c0007t0001g0053 others(2): Show a0003c0005t0001g0009 a0003c0005t0006g0016 a0005c0007t0001g0053 a0005c0007t0003g0057 a0006c0009t0002g0029	9	446	0.0202	0	c.76A others(2): Show c.76A>T	p.Lys others(3): Show p.Lys26*	RLN1	ENSG00000107018.8	transcript	ENST00000223862.2	protein_coding	1/2	206/1009	76/558	26/185			chr9	TogoVar

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