Joint Open Genome and Omics Platform (JoGo)

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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	status	chr	external
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
OR8G1_chr11_124236095_124259364	124249871	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG01891.hp1 HG02145.hp1 HG02723.hp1 others(4): Show HG01891.hp1 HG02145.hp1 HG02723.hp1 HG02965.hp1 HG03486.hp1 NA18906.hp2 NA21309.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0013 a0004c0006t0031 others(1): Show a0004c0006t0003 a0004c0006t0013 a0004c0006t0031 a0004c0006t0036	a0004c0006t0003g0055 a0004c0006t0013g0015 a0004c0006t0031g0015 others(1): Show a0004c0006t0003g0055 a0004c0006t0013g0015 a0004c0006t0031g0015 a0004c0006t0036g0054	7	428	0.0164	-1	c.197 others(4): Show c.197delT	p.Leu others(4): Show p.Leu66fs	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding	3/3	563/5055	197/936	66/311		chr11	TogoVar
OR8G1_chr11_124236095_124259364	124250452	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0004c0006 a0007c0009	a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(20): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0022 a0001c0002t0024 a0001c0002t0029 a0001c0002t0030 a0001c0002t0032 a0001c0003t0002 a0001c0003t0023 a0001c0003t0033 a0001c0003t0034 a0001c0003t0035 a0001c0010t0003 a0004c0006t0003 a0004c0006t0013 a0004c0006t0031 a0004c0006t0036 a0007c0009t0002	a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(41): Show a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0046 a0001c0002t0003g0059 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0005g0005 a0001c0002t0007g0009 a0001c0002t0011g0014 a0001c0002t0016g0029 a0001c0002t0016g0044 a0001c0002t0017g0030 a0001c0002t0017g0065 a0001c0002t0018g0022 a0001c0002t0022g0057 a0001c0002t0022g0058 a0001c0002t0024g0064 a0001c0002t0029g0045 a0001c0002t0030g0047 a0001c0002t0032g0066 a0001c0003t0002g0002 a0001c0003t0002g0016 a0001c0003t0002g0021 a0001c0003t0002g0043 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0056 a0001c0003t0023g0002 a0001c0003t0033g0016 a0001c0003t0034g0051 a0001c0003t0035g0002 a0001c0010t0003g0062 a0004c0006t0003g0055 a0004c0006t0013g0015 a0004c0006t0031g0015 a0004c0006t0036g0054 a0007c0009t0002g0002	217	428	0.5070	0	c.777 others(3): Show c.777C>G	p.Tyr others(4): Show p.Tyr259*	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding	3/3	1143/5055	777/936	259/311		chr11	TogoVar
OR8G1_chr11_124236095_124259364	124250538	TGATTTAT others(844): Show TGATTTATAGCCTGAGGAATAAAGATGTCCATGTTTCCCTGAAGAAAATG CTACAGAGAAGAACATTATTGTAAACAGTAATAATAAGAAGATGATATAT TAATCCTAAGTAGTGGACTGTTACATTGTATGAATGGATGTCTTTCACTT TAATGCATCTGTCAATAATTTTTACCATTTGGTGAGATTATATTACCATT ATTTTTTCATTTCATGACCCTTTGATGTCATTTCCCATGTGGGGTTTTAA CTCATATGTATCAATGAGACACAAATTAATATAAATACTAAAATCGACAT GAGTACATAGACTCATTAATGCCAGCCCCATGTTCTTACCTCTTTTCTTT TACACAATTGATAAAATTCAGCTCAGTTCTCAACCATAATGAAAATACCA TCTTCCAAAAGTGATACCAATCTCCCTTATTCTGTCTTTTCAATAACAAC ATAAATTATTGCAATATGATAGCTGTAATTTTAGCCTGCAGCAATCTCTT TTCTGCCTTATTCATCTATTTACCTCATTTGTCTGCTGTATTTCTTCTTT AGCAACATAATCAAAATTTCAGAATATAAGTTACATATCCGTGTATGTGT TATAATTGTGCAATCCAATATATCATCTGCTTTGCATTTTCCTATTCTAG TTTGTACTTGCCTTCAACCTACACTGGACTTCAGTCTTCATGAAGATTCC CCCGTACATGTGGTTTATTGCCACGTCTCCAGCGTCTATCATAGTTCTTG CCACCTTAGGTCCTTGAAAGCTTTTTTATTATTTCCTCATTTAAGCTAAG TATAGGAAAGCCATATGTATGTCATACTTACTTTATCTATTTATCTCTCG AA	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0004c0006 a0007c0009	a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(20): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0022 a0001c0002t0024 a0001c0002t0029 a0001c0002t0030 a0001c0002t0032 a0001c0003t0002 a0001c0003t0023 a0001c0003t0033 a0001c0003t0034 a0001c0003t0035 a0001c0010t0003 a0004c0006t0003 a0004c0006t0013 a0004c0006t0031 a0004c0006t0036 a0007c0009t0002	a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(41): Show a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0046 a0001c0002t0003g0059 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0005g0005 a0001c0002t0007g0009 a0001c0002t0011g0014 a0001c0002t0016g0029 a0001c0002t0016g0044 a0001c0002t0017g0030 a0001c0002t0017g0065 a0001c0002t0018g0022 a0001c0002t0022g0057 a0001c0002t0022g0058 a0001c0002t0024g0064 a0001c0002t0029g0045 a0001c0002t0030g0047 a0001c0002t0032g0066 a0001c0003t0002g0002 a0001c0003t0002g0016 a0001c0003t0002g0021 a0001c0003t0002g0043 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0056 a0001c0003t0023g0002 a0001c0003t0033g0016 a0001c0003t0034g0051 a0001c0003t0035g0002 a0001c0010t0003g0062 a0004c0006t0003g0055 a0004c0006t0013g0015 a0004c0006t0031g0015 a0004c0006t0036g0054 a0007c0009t0002g0002	217	428	0.5070	-851	c.866 others(8): Show c.866_*780del	p.Ile others(5): Show p.Ile289fs	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding	3/3	1232/5055	866/936	289/311	INFO_REALIGN_3_PRIME	chr11	TogoVar
OR8K3_chr11_56310144_56325639	56319084	C C	T T	stop_gained stop_gained	HIGH	HG01257.hp2 HG02293.hp1 HG03688.hp2 others(1): Show HG01257.hp2 HG02293.hp1 HG03688.hp2 NA18906.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0001	4	410	0.0098	0	c.778 others(3): Show c.778C>T	p.Gln others(4): Show p.Gln260*	OR8K3	ENSG00000280314.4	transcript	ENST00000641662.1	protein_coding	3/3	883/2438	778/939	260/312		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 AATTTTATTTCTGTTATATATGTATGCGTTATATAAAATATATTTCTTAT TGGTATGAGATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTA GGCTGCTTGGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATT AAAACTGTCCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAAC CAAGTCATCAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTA ATTGTGAACCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATT ATTAATTTCCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAA TTAAAATTTCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAA ATATATGAAAACAGATGTTTGCCATATATGTGATATAGGTAAATGAATTA TGAATACAATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATG AAAACTAGAAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGC TCTCCATTCGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATA TAAAGCCTGGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAAT AAGGTTTTTAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGAT GTTGCTGGAATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCA TGTATAATATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGAT AAAGTGGTACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAG TGCAGCCTTACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAA TTGTTGCTTAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCA AAAAGTCTTTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGC AGCAGCAGCAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAA AGTGGTAGAAACATACATGCACACATACTCAAAAATATTCATTTTTGATT TTCATGTCCATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCC CTGCTGTTTCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTA ATTTATTATTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACT TTTCTCTGTATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTAT ACCTATCTACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTT GTATTTATTTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTAC CTTGACCACCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTT AAAATTCATTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATA CGTGTAACTTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTAT TTTCTAATTTAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTC TTTTGATAGTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAG ATTAGGAAGCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATG TAACTAGAGAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGA GTTCTTTCCACTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTT TTCAATAGTTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTA AGTTTGTCAAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAATT TACATTCACTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGA ATGAAATCATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATC TTAGTGAAGTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGC GGGAGCTAAATAATATGTACACATGGACATAGTATGTAAAGTACCTTTAT AAATATAATAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACC TCTTTTACCTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCT AATAATTTTAATACTAAATTAGCACTTACATATTAACAATAAAATTGATT TTAAGGATATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAA ACTCTCCTCTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAAT TGCACCCAGGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGA GTTGAAGATGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAG TAGTAGGCAATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTC AACACACCAATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTG TTACTCTTCTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAAC AAAATAGTATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTG GCCTTCATGACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCG ATATGTGGCCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAG GAATCTGCATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTT GCACTG	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00140.hp2 HG00323.hp2 HG00438.hp1 others(127): Show HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp1 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0000 a0001c0013t0001g0000 a0001c0001t0001g0000 a0001c0013t0001g0000	130	172	0.7558	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 CTGTTATATATGTATGCGTTATATAAAATATATTTCTTATTGGTATGAGA TGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTAGGCTGCTTGG AAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATTAAAACTGTCC TTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAACCAAGTCATCA ATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTAATTGTGAACC AGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATTATTAATTTCC CATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAATTAAAATTTC ATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAAATATATGAAA ACAGATGTTTGCCATATATGTGATATAGGTAAATGAATTATGAATACAAT GTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATGAAAACTAGAA ATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGCTCTCCATTCG CCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATATAAAGCCTGG GTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAATAAGGTTTTTA ATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGATGTTGCTGGAA TTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCATGTATAATAT TTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGATAAAGTGGTAC TTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAGTGCAGCCTTA CCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAATTGTTGCTTA ATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCAAAAAGTCTTT AAAAACTTTGATGATGCACATATTTCATGTAACAATAAGCAGCAGCAGCA GTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAAAGTGGTAGAA ACATACATGCACACATACTCAAAAATATTCATTTTTGATTTTCATGTCCA TGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCCCTGCTGTTTC CTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTAATTTATTATT TGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACTTTTCTCTGTA TTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTATACCTATCTAC TTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTTGTATTTATTT CCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTACCTTGACCACC CATACATACTATGTATGTAGAAGTCAGCATAATCACTTTTAAAATTCATT GACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATACGTGTAACTT TTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTATTTTCTAATTT AAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTCTTTTGATAGT AACAATGATTATTTCAGATAGAAAATAACACCTTTTATAGATTAGGAAGC TTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATGTAACTAGAGA ATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGAGTTCTTTCCA CTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTTTTCAATAGTT ACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTAAGTTTGTCAA AATTCACTATATTTACTTCCTCATAGCCATAATGGCAATTTACATTCACT TTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGAATGAAATCAT GTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATCTTAGTGAAGT AACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGCGGGAGCTAAA TAATATGTACACATGGACATAGTATGTAAAGTACCTTTATAAATATAATA AATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACCTCTTTTACCT TTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCTAATAATTTTA ATACTAAATTAGCACTTACATATTAACAATAAAATTGATTTTAAGGATAT TAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAAACTCTCCTCT TTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAATTGCACCCAGG TGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGAGTTGAAGATG CCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAGTAGTAGGCAA TCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTCAACACACCAA TGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTGTTACTCTTCT GTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAACAAAATAGTAT TTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTGGCCTTCATGA CGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCGATATGTGGCC ATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAGGAATCTGCAT TCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTTGCACTGTTTC ACACCATCCTCACCTTC	p.Phe others(7618): Show p.Phe164_Arg165insCysLeuSerTyrCysHisSerAsnIleValAs nHisPheTyrCysAspAspMetProLeuLeuArgLeuThrCysSerAspT hrArgPheLysGlnLeuTrpIleLeuAlaCysAlaGlyIleThrPheIle CysSerValLeuIleValPheValSerTyrMetPheIleIlePheAlaIl eLeuArgMetSerSerAlaGluGlyArgArgLysAlaPheSerThrCysS erSerHisMetLeuAlaValThrIlePheTyrGlyThrLeuIlePheMet TyrLeuGlnProSerSerSerHisSerLeuAspAlaAspLysMetAlaSe rValPheTyrThrValIleIleProMetLeuAsnProLeuIleTyrSerL euArgAsnLysAspValLysAspAlaLeuLysLysValIleIleAsnArg AsnHisAlaPheIlePheLeuLysLeuArgLysTerValGlnTerThrLy sMetGlyIleProSerTerProGlyPheProProHisTerTerAsnTyrT rpAsnThrLeuLeuLeuIleGlyLysGlnTerArgSerValTyrTerLys AsnTyrSerLeuHisPheCysAsnPhePheAspLeuLysProTyrPheIl eCysArgLysTyrHisLysAsnLeuHisHisPheSerGlnGluLysCysI lePheLysMetTyrTyrLeuIleTerTerLeuTyrAsnTerValLeuPro GlyIleGluLysMetLysAlaLeuTerMetProSerSerGlyLeuTerGl uPhePheAsnAsnMetLeuArgLeuPheTyrSerIlePheLysIleLysP heAsnAsnIleTerLeuAsnTyrLeuGlnGlnCysLeuTyrIleGluVal IlePheLeuProGlyGlyHisLeuSerIleLeuArgLeuIleIleAspPh eHisAsnAspArgIleLeuTerArgAsnAlaIleAlaIleTerArgValG luAlaArgCysAlaAlaLysTyrPheThrIleHisAsnMetAlaProHis SerLysAsnTyrThrSerProAsnAspAsnSerAlaGluValGluArgAl aGlyValLysTerPhePhePheSerSerArgValIleLeuTerIleHisT erAspGlnAlaGlyTerTerCysCysSerSerLeuPheTrpLeuTyrGly PheLeuPheIleCysSerIleAsnTyrTerAspTerCysTerAsnProLy sLeuAsnTyrValPheThrPheIlePheCysGlnPheTerPheTerMetP heTrpGlySerPheValIleCysAlaTerIleSerSerTyrLeuIleTyr TerPhePheSerLeuLeuAlaLeuLeuAsnAlaLeuProPheLeuTerTe rHisLeuMetThrLysSerLeuTyrPheSerAspAsnIleThrThrSerS erLeuLeuArgLeuLeuTerAlaTrpLysSerIleProSerPheTyrPhe HisTyrIleCysAspPheLysCysThrPheCysLeuLeuTerThrAlaAs nSerTrpIlePheValPheValIleAsnSerGluTerLeuSerLeuLeuI leArgValLeuSerProPheIlePheAsnThrIleThrAspMetAlaGlu PheMetSerPheMetLeuLeuIlePheTerIleValGlnPhePhePheIl eSerLeuPheGluPheTerArgLeuCysTerLysIleLeuSerTerLysP heAsnPheTerCysValLysTyrValHisThrGlnThrAspThrGlnThr CysIleSerAsnGlyCysSerLysAspPheAsnIleAspPheAsnLeuSe rProTyrThrSerAspTerTyrTerHisSerThrMetTerIleHisThrT yrIleHisThrTyrAlaValSerThrTyrLysProGlnAspCysIleIle IleIleGluTyrValCysAsnPheMetSerLeuGlyGlyHisLysLysTy rThrIleValCysHisLeuTyrLysLeuArgArgGluTyrLeuCysArgL euTyrIleHisArgHisMetThrIleSerIleIleTerTerTyrIleAsn LysTerLysLysTerLeuThrTyrLeuProPheProValCysPheValTy rPheCysAspTerAsnTyrHisThrGluTerPheLeuIleLeuTerLysT hrPheLeuCysThrTyrTyrLysAlaAspLeuLeuAlaMetAsnTyrLeu AsnLeuIleTyrProGlyLeuTerValThrPheIleSerGluIleTerPh eAspTrpIleTerTyrSerLeuTerThrThrValPheLeuTerGlnPheG lyHisValIleProProHisSerIlePheSerLeuTerGluValMetCys TerThrCysAspPheLeuTerAsnTerSerThrThrPheLysThrPheAr 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 rAsnLeuLysTyrIleTyrThrCysTyrValGlnGluIleThrPhePheT erTerTerGlnTerLeuPheGlnIleGluAsnAsnThrPheTyrArgLeu GlySerLeuLysAsnLysLeuAsnPheTerCysAlaLysValTyrValTh rArgGluTerTerLysTerIleProGlyLeuProValLeuSerArgValL euSerThrValSerCysLeuThrTerIleProThrLysCysHisPheSer IleValThrCysHisTerAsnAlaThrValTyrHisLysAsnAlaLysPh eValLysIleHisTyrIleTyrPheLeuIleAlaIleMetAlaIleTyrI leHisPheLeuArgValIleGluTyrTyrLeuAlaThrLysLysGluTer AsnHisValPheCysSerAsnMetAspGlyAsnGlyGlyHisTyrLeuSe rGluValThrGlnLysValLysHisHisMetPheSerLeuIleSerGlyS erTerIleIleCysThrHisGlyHisSerMetTerSerThrPheIleAsn IleIleAsnLeuCysArgGluLysTyrValPheProGlnAsnAsnLeuPh eTyrLeuSerSerHisProIleProSerProAspLeuLysTerAlaAsnA snPheAsnThrLysLeuAlaLeuThrTyrTerGlnTerAsnTerPheTer GlyTyrTerGlyIleLysLysLeuTyrLysCysTerAlaTerLeuAsnSe rProLeuPheIleGlnThrThrTerArgGlyMetThrGlnIleAsnCysT hrGlnValThrGluPheIleLeuValGlyLeuThrAspArgGlnGluLeu LysMetProLeuPheValLeuPheLeuSerIleTyrLeuPheThrValVa lGlyAsnLeuGlyLeuIleLeuLeuIleArgThrAspGluLysLeuAsnT hrProMetTyrPhePheLeuSerAsnLeuAlaPheValAspPheCysTyr SerSerValIleThrProLysMetLeuGlyAsnPheLeuTyrLysGlnAs nSerIleSerPheAsnAlaCysAlaAlaGlnLeuGlyCysPheLeuAlaP heMetThrAlaGluCysLeuLeuLeuAlaSerMetAlaTyrAspArgTyr ValAlaIleCysAsnProLeuMetTyrMetValValMetSerProGlyIl eCysIleGlnLeuValAlaAlaProHisSerTyrSerIleLeuValAlaL euPheHisThrIleLeuThrPhe	OR8U1	ENSG00000172199.1	transcript	ENST00000302270.1	protein_coding	1/1	493/930	493/930	165/309	INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RX5_chr17_3668227_3701155	3690982	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02698.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(196): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0002g0028 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0101 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0272 a0001c0001t0002g0298 a0001c0001t0002g0305 a0001c0001t0002g0310 a0001c0001t0005g0241 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0088 a0001c0003t0001g0265 a0001c0005t0001g0111 a0001c0006t0001g0188 a0001c0007t0001g0262	218	360	0.6056	-1	c.333 others(4): Show c.333delC	p.Asn others(5): Show p.Asn112fs	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	3/12	483/2060	333/1269	111/422		chr17	TogoVar
PDLIM2_chr8_22575475_22599298	22593765	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(39): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01993.hp1 HG01993.hp2 HG02559.hp2 HG02572.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG04204.hp2 NA18906.hp2 NA18943.hp2 NA18953.hp2 NA18968.hp1 NA18979.hp1 NA18984.hp2 NA19066.hp1 NA19080.hp2 NA20129.hp2	a0002 a0005 a0009 others(1): Show a0002 a0005 a0009 a0010	a0002c0003 a0002c0004 a0002c0018 others(4): Show a0002c0003 a0002c0004 a0002c0018 a0005c0011 a0005c0017 a0009c0021 a0010c0013	a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 others(6): Show a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0018t0001 a0005c0011t0001 a0005c0017t0001 a0009c0021t0002 a0010c0013t0004	a0002c0003t0001g0005 a0002c0003t0001g0041 a0002c0003t0001g0056 others(37): Show a0002c0003t0001g0005 a0002c0003t0001g0041 a0002c0003t0001g0056 a0002c0003t0001g0058 a0002c0003t0001g0063 a0002c0003t0001g0078 a0002c0003t0001g0086 a0002c0003t0001g0094 a0002c0003t0001g0102 a0002c0003t0001g0119 a0002c0003t0001g0129 a0002c0003t0001g0133 a0002c0003t0001g0263 a0002c0003t0001g0267 a0002c0003t0002g0016 a0002c0003t0002g0019 a0002c0003t0002g0070 a0002c0003t0002g0110 a0002c0003t0002g0128 a0002c0003t0002g0135 a0002c0003t0002g0152 a0002c0004t0001g0001 a0002c0004t0001g0028 a0002c0004t0001g0167 a0002c0004t0001g0175 a0002c0004t0001g0181 a0002c0004t0001g0190 a0002c0004t0001g0227 a0002c0004t0001g0288 a0002c0004t0001g0302 a0002c0004t0001g0306 a0002c0004t0002g0203 a0002c0004t0002g0222 a0002c0004t0002g0241 a0002c0018t0001g0228 a0005c0011t0001g0011 a0005c0011t0001g0193 a0005c0017t0001g0042 a0009c0021t0002g0003 a0010c0013t0004g0273	42	378	0.1111	1	c.916 others(4): Show c.916dupC	p.Arg others(5): Show p.Arg306fs	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding	9/9	1047/1577	917/1059	306/352	INFO_REALIGN_3_PRIME	chr8	TogoVar
PGA4_chr11_61217347_61236694	61221906	GAGAGAGA others(14781): Show GAGAGAGAGAGAGAGAAAGAGAGAAAGAGAAAGAAAGAAAAGAAAGAAAG AAAAAGAAAGAAAGGGAAAGAAAGAAGGAAAGGAAGGAAAGAAAAGAAAG GAAAGAAAGGAAAAGAAAACAAATAAGCCTCCAGGTCATTGCTTAGAAAG AAAAAGAAAAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAAGAAAAGAAAA TAGCCTCCCGGTCATTGCTCCTCTCTCTCTCTGCGGGTCCACCCCCATGG CACCCTCCCCCCTCCCCATGGTGCAAGGTTACAATGGAAAGTGCCTCAGC TGGAAAGGTCTCAGAATGTGGCTCAGGGCAGCCACAATCTTATCAGGAGC TTCTCTGTTTGGGATCAGGGGAACCGGTGACTTTCAGAGGCCGATAAGGC GGGACCCAACTTGTATATAAGGGGCAGCTCATGCTGCTGCTCTGCACCTT CCTCCCATCTTGCCTTCTCCCTCGAGTTGGGACCCGGGAAGAACCATGAA GTGGCTGCTGCTGCTGGGTCTGGTGGCGCTCTCTGAGTGCATCATGTACA AGTGAGTCCGGGTGGTGTGGGTGTGAAGACGCTGCCTCCCACATCACCTT TCTTTCCTCCCGTGTCTTCCTTCTTCCCTTTTTTTTCTCTCTCTCTTCAG CTGTCTCCATCCCCCTTTTCCGCCTCTCTCTCTGCCTTTTTGGGAGGCAG CCCTGCAGACATGGTTAAAACTCGGGCCCAGCCTGACTGTGGTTCCCAGC TCCAGCCCTAGTCAGCTTAACTTCTTTGCATTATGGGGCAGAAGTGGGAG CTTCTCCCTTCCTTCCATCTTCCTCTCTTAGATCAGCTGGTTAAGAGTCC AGCCTGGGTTTGGCTCCCAGCTCCAGCACTAGTCAACTTAACTTCTTTGC ATTGTTGGGCAGAAGAGGGGGCGTCTCCTTTCCTTCCTTCTTCCTCTCTT AGACCAGCTTCCCTTCCCTTCTGGGGCTGCCACAGCACCCGGTCAGCAGA ATCCTTGCCTAATTCCTCTTCCTTCTCCAAACCACAGGGTCCCCCTCATC AGAAAGAAGTCCTTGAGGCGCACCCTGTCCGAGCGTGGCCTGCTGAAGGA CTTCCTGAAGAAGCACAACCTCAACCCAGCCAGAAAGTACTTCCCCCAGT GGGAGGCTCCCACCCTGGTAGATGAACAGCCCCTGGAGAACTACCTGGAT GTGAGTGTGCGGGCAAGTGGTGGGGCCAGCTCTGAGGACTTGGCCCGCAG GAAAGAGGGTGTCCCAGGGGTCTTGGAGGACGGGCCTGGGCTCTGTGGCT CCAGGCAGTGACCCAGAGTCTGCCCCCTAGATGTCAGTGGCCCAGGGCAG GCAGGAAAGCTCACAGTCAGAGTTCATTCATTCATTCGTTCACTCGTTCA TGCAATGTTAATTTCTCTGAGCGCCTCATTCTATTTCAGGGCCTGTGCTG GGCTCAGGGGGAGACAGCAGTGAGCAAACTCATAGCCTAGGAGACAAACA CAGTCATCAAGGGGTCTCGCAAACCAATGAAAAGAACAGGCAGCAGGAGG ACTACAGAGTGACGGTGTCACACTGCGAGAGTCTGCCACTTGGGCAGGGA GCCTCCCTGGAGCCACGCAGGAAGAGCAGGAGTTTCCAAGAGAACAAGAC AGAACTCCGCATAGCCTGATCCCTTGTGCCAAACCCTGTAGCAGGCGGGA GCACAGTGCCTTTGAAGGGGAGCCGAGAGGGAGGGAAGAAGGGTGCTGCA GACTGCGGTCCGAGGAACTGAGGGGTGGACGCAGAGAGGCTCCATCCTAA CTGCCTCTGATTTATCTTAAACAGGGGGATGACAAGATCAGATCTGAGTT TCAGAAAGATCACCCTGACTTTGTTATTTGAGACCCGATAGCAAACACCC TGCCCTCCTGCAGATATTGTATGTCCCCTCTGTGACTGGCACAGGGCACA AAGCAGTGATGCCTGTGGTTCAGAGACTGGCCTCTGCCATCCAGCAGACC TGGTGCAAATATGGGTCCTAGTGCCTCTAAGCCACAGGACCTTGGCCAAG TCATTTAAATACTCTGAGCCTGTGTCTTGGTCTGGAAAACAGAACCACTA ATATCTACCGTCAGAGGATGTTGCCAGGAATTAACACGATCATGTTTTCT GGAGTGCTTAGCATGGGGTCTGCCAGGCCCTTGGTAAGAGGCTTAATTAG CGCATTTATTTAGTTCACAAATATTTAACAAATATTGGCACCTCTCTATG TGCCAGAGGCTATGCAAGTTGCCAAAATGATGGTGAATAATCAAAGTTCC TGGAGCTTATACTCTAAAGGGGATAACAAATAAACAACCATGTAAGATAA TTTCAGGTAATGATAAGGGCCTTGGCAAATTAATTAATGGGAGCATGGGG AACAAGAAGATTGAGAGGGGGCAAATTTAGATAAAGTGGTCACGGAAGGC CTGTTGGCAGAGGGGACATTTGACTAGAGAGCTGAATGATTGATTTTTGA TAAAAGGATCAGCCAAGGAAAGATCTAGAATAAACATTTTCCTAGCACAA GGAATAGCCAGTGCAAAGGCCCTAGGGCAGGAGTGACTGGTCATCGCCAA AGAACAGCAAGCAGACCAGTGTGGCGGGAACAGAGCCGGCAGGGGGAAAA TGCTGCCACTAACAAGAAAAATACTGGTTGATTGGCGGAGGCGGGTGGAT CACTTGAGGTCAGGAGTTCGAGACCAGCCCGGCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAATTTGCCGGGCATGATGGCACACACCTGTA ATCTCAGCTACTTGGGAGGTTGAGGCAGGAGAATCACTGGAACCCAGGAG GAGGAGGCTGCAGTGAGCCGAGGTCGCGCCACTGCACTCCCGCCTGGACA ACAGAGTGAGACTTGTCTCAAAAAAAAAGAATAAAAATACTGTCAATGCC CTTTCTTGCAACCTGCTATACACATCTAGATGTAGAAATAAGAAAACTGG ACAGGTTTCCATCTTTAAGTGGCTTGCTTAGCTTCTGATAAACAATTTAA GGCACAAGCACTTAAGCTGTAACTTGCCCGGTGCTAGAAGGTTCCACCGC CATCCTCTGAGAACATGCGCTGTACGGATGGGAAGACTGTGACAGACAAG ACAATGGCTAAAGAGGGAACAGCAGATTGTTAGGTGCTTGTGGTGCTTAA CAGAGAGCAGAGGGTAAATTGGGGGAGCAATCAGGGAAGACTTCAAGGAG GAAGGGACGCCAGGGCTGGGATTTGAAGGATGAAGACAGTGGCTGGGAAG AGAAAGATAAGAACTGTGAGGAATGAAGGAAAAGATGGAGAGGCAGACTG AGGAGATGACCCAGAGACAGCCCCTAGGGAGGCCCTGACAGAGAGACCCC GTTCCGTGAACTGCCCTGTCCTCGCCTGGACAGATGGAGTACTTCGGCAC TATCGGCATCGGAACTCCTGCCCAGGATTTCACCGTCGTCTTTGACACCG GCTCCTCCAACCTGTGGGTGCCCTCAGTCTACTGCTCCAGTCTTGCCTGC AGTAAGTGCCCAGACCGCCCTACCCCACTCTCACTCCCCAGCACCAGCCG ACCCTGGGGAACCCTGGACACCCACGGGCTTCAAACAGTTCCCACCTCAA GCCTGCTGGAGCCACTCAACAGGCATTTATTGAGCACCTACTACGTGCCA AGCACTGGGCTCAGGTGCTCCAGGGGGTAAAGGGATGAGTGATATGATCC CTGCGGTCAAAGACTACACAGTCTGAGGGCAGAGAGAAGCTCTCCTCAAT AACCACAGGCTGGGAGAGGAAGTATGGGGGGCCCAAAGCAAGACAGGGCC AAAGGGCTGTAGAATAGCCCACCAGGAAAGAGTCCAGTGTGAGAAAATGG CTTCAAAGCCTGGCTAGGACAGGCTAGAGGTCAGTGCTGAGCTCATTTAA AAAAAAAAAAAGAATCATTGGTTTGCTAATGAAAGAGAGTTTGTCTTTGG AAGTCATGAACAATGTGTGTTGCAGGTTCCTTCCTCTTCTAGTGTTTTCA CTGGAGTTTTAATGAAGATGAGGTGCCTGTGGCATCATCCACATCATAAC GGGAGCACTGGCTGGGGGCTAGAGGGTGAAAGCGCTCGTCACTGGGTAGC CACGGGCCTGCTCCGCTCTATGTTGGTCTGGGGAGGTCTCCAGGAGGCCC TTGGGGTTGGCTGGGGAAACTGCCACCAGTGAATGGTCCCAGTAGTTCAA CGAGACAGGACAGAACCTGGGGTCTCTTGGGCTCCAAGGGTCTAGGGCGA AAGGTCGCTGCTCACCTCCAGAGCCCGTCCCAGGGCCAGGGCACCCCATC CCAGGAAGACATCCAGCCCATGACCTTCACCCAGCTCTCAGAGAATAACA CTCACCGCTTGTCCTTGCAGCCAACCACAACCGCTTCAACCCTGAGGATT CTTCCACCTACCAGTCCACCAGCGAGACAGTCTCCATCACCTACGGCACC GGCAGCATGACAGGCATCCTCGGATACGACACTGTCCAGGTGGGCACCTG CAGGCTGCCGCTGCATCCCCCCATCAGGCACCCCCAAAATAAGCTTATTC CAGCAAGATGAGTCTTGGTGATCACAGAAGTAACCTGATTGGGGGTGCGG GGTGGGGGAGAAGCAGCAGAGATGTCACAGACATTGCTAGCTCGGGTGGC AGTGAGTAAAAGGGTGGGGTGCCAGGAGCCATAACCCAGACTCAGCTCCA CCCAAGCAGAATGTTATGGAGTGTGGGGAGAGTCAGTAAAGGCTCACTTC TCTACTAGCACCTCCTCCTCTTCCTTCTTCTCCCGACATGCAGCACCCCA AGTCACGAAATCTCCACAAGCCCTCCCTGCCACTTTCGGGGCATGGCAGG GGTCAAAGGCCTGGGGTCTGGGGTCTGCTTTGCGTTTGTTCATCAGAAAC ACAAACACACAGTGACCATCTGTTCTCCAGCAAAATCTCACCCTGAGTCA TAGACTGTAGCCATCTGGAGATCAGCTGCCATGGTTACCTCCAGCAGAGG AACCAGCATTCCAGCAGACAGTCCCTCTGCCCTCCTCCCGGGCTGATACC CTGGAAGCCAAGTCCTGCATGAGATGAACCAGGGTGGCTCTGGGCCTGAG GCTGGCATCCAGAGCTCAGTGAACATGACCCGATGGTGAACATCATCTCG GTTTCCCCACCCAGGTTGGAGGCATCTCTGACACCAATCAGATCTTCGGC CTGAGCGAGACGGAACCTGGCTCCTTCCTGTATTATGCTCCCTTCGATGG CATCCTGGGGCTGGCCTACCCCAGCATTTCCTCCTCCGGGGCCACACCCG TCTTTGACAACATCTGGAACCAGGGCCTGGTTTCTCAGGACCTCTTCTCT GTCTACCTCAGCGCGTAAGTTGAGTGGAGAGGGGCCTCCTCCCACCTCCC CCTCCAGAGGTCACAGTGTTCCTGCCCAGCAGGAGCTGTCCAAGGCTGGG TGCGATGGAGAGGGTCTTGGGAAGCAAGGGATTTGAAAGTCAATGTCTGA GGCTGGAGAAGTGTGTCTTTGGAGAGTAATAGTGCCAAGTCTGTCTCTGA CGGGCCATGTGCACTCCATCTTATTTTACCAGCATCTTTGTCCCCTTGAT GTGCACAACTCAAATGTCATCAGCCATTTCCCCCTCAGTACCACTTCCCT CATCCTTGGCCCGCAAAGATGCCATTTAAAGTGAATACACTTGGCCAGGT GTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCTGAGGCAGCAG GATCACCTGAAGTCAGGAATTCAAGACTGGGTTTCATGGTGATAGCCAGG ATGGTCTCGATCACCTGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGTGCCCGGCCCTGGATGACTAATTTCTTCTTGCTGTC TACATTTGCTTCCTCATCTAACCTGAAACTGCAGAAATTTAGAACATGAA TATTGCAATAACAAGGACTCCTGCAATTTACCACAGGAAGGCTCTTTGTC ATGTATTCTTCTTGGCCAGTTAATGTTCAAGGTGGCTCTGAAACATCATC TGCCTTTATGAGCACTTAAATATTTCATGTGGGGCCATTGCATCTCCCCA GCCAGATCCGAGTTTCTCAATCTGGGCACTATTAACATTTCAGACCAACA TAAGAGCTTGCCGCCAGGGACTGTCCCGTGCATTGTAGGATGTTTGGCAG CATCCCCAGCCTCTACCCATGAGATGCCGGCAGCATCCCCTACCCCCACC CAATCATGACAATCCAAAATGTCTCCAGACATTCCCCTGGGGGCAAAACT GCTCCCAGCTAAGAACCAGTGACCTCCACCCTCAAGTCCTTAAGAGCGGA CACTGTCATGCATTCACTTCCCTGGGGTCCCCATGGCAACCAGAGTGGGT ACCACCATGGAAACCACAGACTCAACCTAAAAGGCCTGTGTTCTTCCAAA CGTAGTTCCACCACTCCCCCGCTGTATGACCTTGGGCAGGTGGCCTCACC TCCCTCAGGCTCAGTGTCCTCATGGTAAGTGGAAATAACAGTGACAGTGC CCACTGCATAGGCACTGGCCTAAGAGGAAAAGAAACCACATTAGTCACAC CGCAGGACAGCCCTAGAAAGTGCCCAATCAAGGGTAGCCCTGAGGAGGCA ACAGCAGATGGTCACACAAATGGACGAACAAAAAAATTCATGTCTTCTCC CCTCACTTTCCACAGCGATGACCAGAGTGGCAGCGTGGTGATCTTTGGTG GCATTGACTCTTCTTACTACACTGGAAGTCTGAACTGGGTGCCTGTTACC GTCGAGGGTTACTGGCAGATCACCGTGGACAGGTGAGACTGCCATGAACG GGCAGCATCCAGGCCTGGGCCCCAGATCCCATTTCCTTATGGATTCATAG CCAATCAGCTTTCCAGAATCCCCCCAGGAACAGCTGGCACAGGGGAACAC ACTCCAGGGGGAAGGTGGAAGTTGGCCAAGCCAGAGACCCCTAGAAAGAC ACCTCCCTGCAGGAGGAGGGAAGAGCTGTCTAGGAAGCCAAGACTCTGCA AGGGTGAGATAGCCACTGTCCTCCTAGTCACGGAGGCAGGACCATCCACC AGCATCCCTGGGGAGAGCTGGGGGACCCACCTGTCCACGCATCTGACAAT TTAAGGGGCCGGTGAACCAGCACACGCTCCTGCCACTCGAGGAAACATGT CACTTTCCGTCTAGAAGTGGGGCAAAATGGCTAAGAAATTGTGTGAAGTC ACTTCATTCCACCCTCCCCTTCAGGGCCTCCCCGGTCTCCCTTGCAGCTT CATTTCCACGCTCTTCTTCCCCAGCTAGCCTGCTAGCGTGCTCAGTGGTG TGGGTTTTCCCAAGAATGAACAATTTCCCAGGACAGAGACTTTCAGTACT AAAACTGGGACCAGCCCAGGCAAACCAGGACACATGGATCACCTCATGTC TGCCCAGCCATGCTAGAATTTCACCAGTTCCTCCAACACCTGCCCCAGCC CTCTGGTCTCTGTACCTCCCCGCATACCATCCCCTGATGATGTCCTCCTT CTCTCTTCACCTGCCTGGCATTCCAGGGTGTCTGTTCCCCTGGCTGCTCC CCTCCACCACCTCTCACCCTGGACCCTGTTTTTGTTCCCTGCCTCATGCC TGACTGATCATCTTGCCCTTCTGCCAACATAACTTATCTTGCCAGCTAGG CAGGGAGCTCCCTGCAGCCTGGAACTGTGAGGCTGTCTTGTTTCACTTGG CATTTCCCATGCCTGGCAGAGAGTAGGCACTTGGGAAATATTTGTTGGGC AAATGAATGCGGGACGAATGAGTGCGTGAACGAGAGGAACAGAAATTTCA CGCATTGGCCAATGGATGGGTGGGGAAGAAATGTCTGGGCTCACCTCCTA GTTCCTCCTTGGAGAGAAGTACCCCTGAGAGCTCAGGGAGCTTAACTTGC TTCTTGCCCTCAGCATCACCATGAACGGAGAGGCCATCGCCTGCGCTGAG GGCTGCCAGGCCATTGTTGACACCGGCACCTCTCTGCTGACCGGCCCAAC CAGCCCCATTGCCAACATCCAGAGCGACATCGGAGCCAGCGAGAACTCAG ATGGCGACGTGAGTCCAGCCCCGACTGCTCTGTTCTACACTCAAGTAGTG GGTGTGCCAGGCAGAAGGGACAGAAACCCTTCTAACTTTTCTCACCCTCA CTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACA TCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTAC ATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGGGGTTCACACAG AATGTGGACACAGAGTTCCCCTCTGCAGACGGAAAGTACACTTCCACGAG CTGAAGCCAGCAGGCAGAGGCAGACGAACATCTGCCCTAGACAGCCTCCA GAGAAAAAGAATATATTAAAAACAAATGCAGGAATAAGAACTCGGATACA GCCCCCTAAGGGAACAAGTGAAGCAAAGGTTAATGGAGTGAAAAGAGGAT TCTATTTGGACCCCTGGGTCCAAGTCCTGGGTCTGAATTACTAGCCCATT GATTCTGAGCAAGCTACAGCTCATCTCACCCTCAGTTTTCTCATCCAAAA AGTAGAGATGGCAGCTTTCCCCACCCTCAGAGTGCGGTTAGGTCAACCAA GTGAGACTGATCACATCAGAGCTACCAAGGGTTGGGCAAATGGAAATCCT AATTTCCATAGGCTGGGGCTTCTGACACTTCTACCATCTCTACCAAGTAG CAAATCTTTAGCTATACGAGCCACAAGAAAACTCTTTCCCTTCTGTTATC ATAACGTCAGGTGGAAAACTAATTTTGCCAGTGGACTCATGTTACTCAAC AAGAAGCACTGATGCCTGGGCTCCCCCACTGATTCTGATTACATTAGGAG AGGGCAAGGCCTGAGCAATGGGATGGGGCTGCGGGGGTTCAAAGCTCCCC AGGTGATGTGCAGACAAGGTCGCAGCCCAGTGACTTAGTGAGGCAAGAGG GCTAATAGCTCATCTGGTTTGCCTCTGACCGGATCAGAATAATAATGAGA AAAGGCTATGGCGGCAGGGTTTTCAAACTCCTTCCTAGCAGCTGAATTCT CCCTAAGCCCCTTAGCACCAATGCTGATGTCAGGGTTCGTGTGCCTGCCA GAAACACCAGATAATGTCCAGTAATGCGTAGAAACCAGTCGTTCAGTGGA CGGCTTCTACAGGCCGACTCCAGGCCAAGAACAGCCGAGTCCCTGGACAC TGAGCCAGGAAGCTCCTCCTTGCACGTGCCTTACAGCTGGACCAGGGCGC CCTGGATGTTTATCACCCAGCGCCTATCACGGCTGAATCGGTGTCCCAGC TCCACTTTTATTCTCCTTTTCTCCAGAGCGAGGGGAGCTGCATCAGTGGC TTCCAGGGCATGAACCTCCCCACCGAATCTGGAGAGCTTTGGATCCTGGG TGATGTCTTCATCCGCCAGTACTTTACCGTCTTCGACAGGGCAAACAACC AGGTCGGCCTGGCCCCCGTGGCTTAAGCCTAAGTCTCTTCAGCCACCTCC CAGGAAGATCTGGCCTCTGTCCTGTGCCCACTTTAGATGTATCTAATTCT CCTGACTGTTCTTCCCAGGGGAGTGTGGAGGTCTTGGCCCTGTTCCCTGT CCTACCAATAACGTAGAATAAAAACATAACCCACTGAAACAGGTTTTGTG GAGCTGCTTCTCTTTGCTGGTCTTTTTCCTTCACATTACTGGGGTTAGAA CGCCAGGGCAGGGATGAAAATGACCACATCCATTTGGATGGCACCCAACA TAGTGACCCCAGCAGCTGACACTTCATGATGGAGCCAAGAAGACAGAGAG GCTTCGGGGGTTGTGCTGGAAGCATCATAAAAAGACCTGGGGGTCAAAAT ACTGGGCTAATTGTCTTCTCATAGAAGGGACACAGAGCTGAGATCGTGCC ATTGTACTCCAGCCTGGGCGACACAGAGAGACTCCAGCTCAGAAAGAAAA AAATAGGTCACTGAAGCTCTTAGTTGAGGGAGTCAACCTCCTACTTCTCC CAAAGCCAATAAGAGATCATGAGAAGGCTGGGCACAGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCTGAGGCGGACAGGTCACCTGAGGTCAGG AGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAATAAATTTA CAAAAATGAGCTGGGTGTGGTGGTGCGCACCTATAATCCCAGCTACTCAG GAGGCTGAGCCAAGAGATCGCTTGAACCTGGAAGGCGGAGGTTGCAGTGA GCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCA TCTCAAAAAAAAACAAAAAAAGAAAAGAGATCATGAGGAAAGGAAAGCAA TCAGGAGAGTCACGAGAGGTAGACACTAATGGTGATGTCCCTAAGTAGAT AGGACAGGGCAGAGTTGTCTGCAAGACGTGGACAGGAGAAGTGGAAGAAG CTGACACCCCACAGTCTTCCAGGATGCCCTTGTGATTCACTGGCTACCAA GACCAAGACTAACAGTTAATCTCCCCAAGGTCCTAGGCAGAAAACACTGA ACCCATCTCTTTCCCCATCTGTAACCAAAGAGAAAGGTCTTCCACTTCCC TGAGCAGAGGTTGTGAGACAGAGAATTAAGCATGTTCATTAGCATATATG CCCTAGAAAGGCAAAGAGGAAATGGAGCAGTTTCTCAGACTGGGCTTGGT AGCAAAATGTTCAATGGAAAACACAGTTTCAGAATAAGTATAGAACATGC TACATTCTAGGCCCTTCCCCAGGGTTCACCAGCTACAGTTCCCAATCAAA GGCTCTGACAAGCCCTGCTGCAAAGTGATCTGTTTCTTTTTAACTCAGCT GAGCTTCATCTCAGACTCTCTCTTGCTAGTAAGTCTATTACAGCCCTGGG CTCCCCGGCATGCATGCTGGGAAAATTCCCATAGCTCCTGCTTCTGGTGA CAGCCGACCCAGGCTTTCTGCTGAAGACACAAGCCCAGAGGCTGGAGCTG GGCTCTAGGAAGGGCGGGGGTGAGCTCCAACACCCAGTCTCCCCAGGGTC ACTCTCACCCTCCCAAGCCCATTTTCCATAGCTGAATAAACTTTAGGAAA CATAAATTTCATCTCATCCCTTCCTTGCTTTAAACTCTTAATGCCTTCTT GCCATTGCCGTTGGAATAAAACAGCAAATCTTTGGCATAGTCCCACGTCC TGTGTGCTCCTTTCCCTCCAAACCTTCCCTGCTTCACTCTGATCCCGTTA CCCCGAGCTCCCTCCACCCTGGCCTCCCACGGCCACAATAGCCCAAGTGT TTTCCCACCTCCAGACTTTGCACATGCTGTTCCCTTTGCCAGGGTTGCTT TTCCCTCTTTCTTGACTAGCTAACACCTAGCATCTGCAGACGTGGCTTAA ATGTCACTTCTCAGCCAGGCTTGGTGGCTCACGCCTATAATCCCAGCACT TTGGGAGGCCGAGGTGGGCAGATTAACTGAGGTCAGGAATTTGAGACCAG CCTGGCCAACATGGTGAAACCCCATATCCACTAAAAATATACAAAAAATT AGCTGGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTATTTAGGAGGCTGA GGCAGGAGAATCGCTTTAACCCAGGAGGTGGATGTTGCAGTGAGCCGAGA TTGCACCACTGGACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAA AAAAAAAAAAAATGTCACTTCCCTGTAAAAGTGATCAGCCCTCCCTCACC ACTCTCTCAGAGAGCCTGGGCCTACATTTTCCCTCATGGTACTTGGCACT ACCTATAACCATGCATTTCAGTGTTTAAGATTCACAAGGACAGGGATGGT GATGGTTTTAATTAGGTTTGAAGCCCAAGCAGCAAGAGCCGGGCTTGGCA CATACTAGGAGGTCAATAAATATTTGCTGAATGAGTGATTAGAGAAGACT TTTTGAAAGGAACCATCTCAGATAGGATGAGAGTATGAGAGTGGGGATAT GGTTTGACAAAGGCCATGTGAATAACAACAGGTGGGTCAGCTCCCACCCC CACCAACATTCCATCCCCGTCATATTCTGTCATGGGATAAGCAGGTGGAT TTCTCAAGTTTCTGGGAAGGAATTTCACCCTGTCCTGGCTTCTTTGCTGG ATTTATTTTTCTGATATTTCCCATGTACCTACTTTGAAGCTAGGCAGTGT GCTAGGCTCCGGGGATATAGGAAGGCAGGTCTTCCTGGATCCTATCTGTT CTCCTGCACCTGATCCCAGCCTTCCTTCCTCCCCCATCTCAACACCAGCA GCTGCAGCTCAGCCTCTCTCGCCCAGCACCTCTTCCATTCCCACCCTGGG ATTCCTGAACCCTGTCACAATCTAAAGACGTTCCTCATCAGACAGATCAT TTGACCAGAAAGCCCTGTGCCAACATATCTGATTTCATCCTCCTCATGTT GCTGCACAACAGAAGATGAATTCACAATCCTTTCCTGCAGTCTCAGGCCT CTGCTCCATGCATCCTCCTCGAAGGGCCCTGGGGTCGAAGCACAGCTCCT TCCATCCTTTTCATTCACACTCATCCAGGAGTGTTATTTTAATCTCACAG GTCTCCTGCCCCATCCATCCTCACCTGTCCCAAATGATCACTCCACACGC TGCTGGTGGGAGTGTAAACTGGCACCACCCTAAGAAGCATGATGTGGCTG TATCTATCAAAATTAAAAATGCATATGCCGGCCAGGCACGGTGGCTCACA TAATCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGGTGGA TCACCTGAGGTGAGGAGTTTGAGACCAGCCAGGCCAACATGGTGGAACCT CATCTCCACAAAAAATACAAAATGAGCCGGGCGTGTTGACACATGTCTGT AATTCCCAGCTACTTGGGAGGCTGAGCCAGGAGAATCTCTCGAACCCGGG AGGTGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTTCAGCCTGGG CGACACAGCGAGATTCTGTCTCCAAAAAAAAAACAAAGGAATGATAAATG TTCAAGATGATAAATATGCTAATTACTCTGATCTGATCACTAAACATTAT ATGTACAGAAACATCCTTATGTACCCATAAATATGTACAATTATTACATG TCAATTAAAAAGAAAACAGCCAGGCACAGTAGCTCATGGTGTAACCCCAG CACTTGGGAAGGCCAAGGCGGCAGGACTGCTTCGGGCCATAGTTCAAGAC CAGCCTGAGCAACATACCAAGACTTCATTTCTATTGTTTTTAATAAATAA ATAAAAGGAAAAGAAAGAAGATGTGTATACAAGAGAACATTCATAGAGCA CTGTTCCTAAGAACTCCACACTGGAAGCTACCCAAATGCCTATGAACTGA AAAAGAGAAAATAGCGGGTATATTGATGCAGAGGAATAATACACAGCAAT GAAAATGACTGAGTAACAACTCCACACACCGCCATTCGTGGATGCCTCTC CTAAACATGATTTTGAGCAAAGAAGCGCAATGCAAACTAAAGTGCTTGTT ATGTGGTACTGCTTAGCAAAAGTACAAAAACAGGTGAAATGAATCTTTGC TGTTTGGAAATCAGAGTAGTGATACGCTTGGTTTGGCCCTAGGATAGTGA CTGGGAAGAGCCTGGGGTGGGCTCCAGGGGTACCTGACATGCTCTTTTGC TGGGTCTGGGTTGTGGTTACACGTGTGTGCTTGGTTTGTGAAAATTCATC AAGCTGTTTCTTATGATATGCACCTTTCTGTGTGCATATCATATTTTGAG AAAAGTTTTAAAATGATCATGTAGATTTATAAAAATCACTTGTAAAATAC AGAACCATGATTTTTCTTTTAAAAGCGGGTTCAGGTTGCAGATAGAGTAG CGCAGCAGAAGTGAGCTGGGCCCATCAAAGCGGGTTGCTTGCAAAACAAC ATGTGCCATATCTTGTGGTCCTATATTTGTAAGTAAATCAATATATTCAT TTACTACGCCAGTGGTGGTTAGTTCTGGGTAGTGGGGTTAAAAGTCATTT TTAAAATTGTATTTATCTATAAATAATCTACAGTGATCATGTATTACTTC TATACTTGAGCCAAAAAAGTTATCATCAATTTAGCTTTGAAAACCTGCAG GCATCTCTGGAGAAGCAGCCCAGGTCTGGGACTGGGGAGTGGAAAACACA GTGTTCTCTTTGGTGTTGGAAGATCATGTCCCTGGGGTGAGACCTTGATT GAAAGCTGCTAGGGGACCAGCTGCCCCAATGCCTATCACACCAGCTTGAT AACACTTATCATGCTTAAGTGCTCCATCTCAGCCTTGCCATGATTGGGTT CCTTAGATCTCATTCCATTGCTTGATTTGATTGGTTCATGGAACATTTAT GAACACCTGTGCCATTGGCAGGGGCTGCCCTGCATCAGAGACACTGCTAC CAGTCCCCCTGAAAGCCAGGCAATACCATACTGAGTGCCAGGCAGGGCTA ATGGCAAAGCAAACGTTGCTGTCTAATCTTTCTGCCGGGCCAGTCTCGTA CAATGAGATGTTGCGGCTTCCTTGCTGGCAGCCACGGATCAGCCCTGGCT GACAATCAGATCCCATGGGAGCACGTGGTTGCAGAATCA	G G	transcript_ablation transcript_ablation	HIGH	HG02976.hp1 HG03654.hp1 NA18906.hp1 HG02976.hp1 HG03654.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	298	0.0101	-14788	c.-49 others(10): Show c.-494_*5163del	p.0? p.0?	PGA4	ENSG00000229183.10	transcript	ENST00000378149.9	protein_coding	2/9					chr11	TogoVar
PHETA2_chr22_42069248_42084438	42077278	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	404	0.0025	0	c.-14 others(5): Show c.-14-2A>G		PHETA2	ENSG00000177096.9	transcript	ENST00000321753.8	protein_coding	2/2					chr22	TogoVar
PHTF1_chr1_113691831_113764486	113705236	TCGAGACA others(905): Show TCGAGACAAGACTGGGCAACAAAGTAAGACCTCACCTCTACAAAAATACA AAAAATTAGTCGGGTGTGGTGGCGCAGGCCTGTAGTCCCAGCTACTGGGG AGGCTGAGCTGGAAGGACTGCTTGATCCTCAGGAGGTCAAGGCTGGAGTG AGCCGTGATCACACCACTACACTCCAACCTGGGCAATAGAACAACACCCG GTCTCAAAAAATAAAATAAAATAAATCACACTTCTTCTGCATATCACCAA TATTTTAAACCCTCCATCCATAATTTTTATCAAATTTCAATAAATTTATT TCTCACTTGGCCATTTTTCACAAAAACATTATCACATGTAGATAATTATT TTATTCTATGGATAAAAAACAAAAAAGGGACACTGAGGTGCAGATGCTAA GCAGTCGGCTAGGCTCACTCACTGGCTAAGCCACTTATTCTACACATGAG GCCTGGCAAAATTTCAGATTACAACGTGTAATATGTAAATAGTCAATAAC ACAAACAATAAATCCACAAATATCAAAAGTCCACTTATCAATCCTTTATT GCCCACATCAACTTGAAGAGAGACCAAATCAAGAGAACAAAAGCAACTCA ATGGAATATCATATACAAAAACAGGTAAAAAATTTTCCTTATTTCTCCAC TGACCTGTTTATATGTTCTCTCTGCCACACACATCATGAAAAAAAACATC CAAGTAAGACACAATCTTTCAAAAAAATTAATTATCGACAAAACAATAAT AGGTGTAACAGGTGGTGCCCCACAAAAGAGAGTCAAGATCTCCTCAGCTG AAATGGACTTTAGTTGGTCAAGGCTCTTCTCACGGAAAAGTCGATGTAAG AATGGAAAAAATGCTAATCCAATAGTGACAACATTTCCCAGCATCTGATA ACCTACTCCTTGC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0018 a0004c0005t0012g0018	1	328	0.0030	-912	c.141 others(13): Show c.1413_1672-440del	p.Gln others(5): Show p.Gln472fs	PHTF1	ENSG00000116793.16	transcript	ENST00000369604.6	protein_coding	13/19		1413/2289	471/762		chr1	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
PIWIL3_chr22_24714034_24779720	24774320	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02280.hp1 HG02970.hp1 NA18906.hp1 HG02280.hp1 HG02970.hp1 NA18906.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0012 a0002c0011t0002g0013 a0002c0011t0002g0014 a0002c0011t0002g0012 a0002c0011t0002g0013 a0002c0011t0002g0014	3	384	0.0078	0	c.-23 others(5): Show c.-23+2T>C		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	1/20					chr22	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
PKN1_chr19_14428306_14476859	14470639	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG02055.hp1 HG02055.hp2 others(11): Show HG00621.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02145.hp1 HG02602.hp2 HG02809.hp2 HG03669.hp2 HG04184.hp1 NA18906.hp1 NA18946.hp1 NA18949.hp2 NA19056.hp1	a0004 a0005 a0010 a0004 a0005 a0010	a0004c0032 a0005c0009 a0005c0021 others(4): Show a0004c0032 a0005c0009 a0005c0021 a0005c0035 a0005c0040 a0005c0041 a0010c0027	a0004c0032t0001 a0005c0009t0001 a0005c0009t0003 others(5): Show a0004c0032t0001 a0005c0009t0001 a0005c0009t0003 a0005c0021t0001 a0005c0035t0001 a0005c0040t0001 a0005c0041t0001 a0010c0027t0001	a0004c0032t0001g0287 a0005c0009t0001g0014 a0005c0009t0001g0050 others(11): Show a0004c0032t0001g0287 a0005c0009t0001g0014 a0005c0009t0001g0050 a0005c0009t0001g0058 a0005c0009t0001g0082 a0005c0009t0001g0302 a0005c0009t0001g0303 a0005c0009t0003g0289 a0005c0021t0001g0108 a0005c0021t0001g0124 a0005c0035t0001g0001 a0005c0040t0001g0266 a0005c0041t0001g0231 a0010c0027t0001g0038	14	374	0.0374	1	c.250 others(5): Show c.2506dupC	p.Arg others(5): Show p.Arg836fs	PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	20/22	2723/3120	2507/2829	836/942	INFO_REALIGN_3_PRIME	chr19	TogoVar
PLCD4_chr2_218602899_218642175	218630691	C C	A A	stop_gained stop_gained	HIGH	HG02896.hp2 HG02897.hp1 NA18906.hp1 HG02896.hp2 HG02897.hp1 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0006 a0002c0004t0002g0026 a0002c0004t0002g0006 a0002c0004t0002g0026	3	296	0.0101	0	c.116 others(4): Show c.1161C>A	p.Cys others(4): Show p.Cys387*	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	9/16	1366/3092	1161/2289	387/762		chr2	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
PLEKHG2_chr19_39407669_39433415	39424864	T T	A A	stop_gained stop_gained	HIGH	NA18906.hp1 NA18906.hp1	a0029 a0029	a0029c0051 a0029c0051	a0029c0051t0010 a0029c0051t0010	a0029c0051t0010g0027 a0029c0051t0010g0027	1	412	0.0024	0	c.373 others(4): Show c.3731T>A	p.Leu others(5): Show p.Leu1244*	PLEKHG2	ENSG00000090924.15	transcript	ENST00000425673.6	protein_coding	19/19	4497/8048	3731/4161	1244/1386		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
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
PRAMEF4_chr1_12874212_12891201	12875534	CTAGCTAA others(5989): Show CTAGCTAAAATGACAAAACCCTGTCTCTACTAAAAACTGATAATAATAAT AATACAAAAATTAATCAGGTGTGGTGTTGCATGCCTGTAATCCCAGCTAC TCTGGAGGCTGAGACAGGAGCATTGCTGGAATCCTGGAGGCAGAAGTTGC AGTGAACAGAGATCGTACCTCTGCACTCCAGCACGGATGACAGAAGGAGA CTCCATCTCCAAAATAAATAAATAAATAAACTCAAGGCTGGGTGCGGTGG CTCATGCCTATAGGAACTCACTCCCAGCAATTTAGGAGGCCGAGGCAGGT GGATCGCTTGAGCCCAGAATTTCAAGACCAGTCTGGGCAACATGGTGAAG CCTGGTCTTCACTAAGAATACAAAAATAAGTCAGGCATGATGGTGCATGC CTGTTGTTCCAGCTACTAGGGGGACTGAGGCAGGGAGATCACCTGAGCCT AGGAGGTCAAGGCTGCAGTAAGCCGTGATCATGCCACTGCACTCCAATCT GGACAACAGAGTGAGACTTTGTCTCCAAATAAAATAAAATAAAATAAAAT AAAATAAACTCAATATTTTTTAAAACTGTAATGTTTCCTTTCAAAGCTAA AATTGTATTATTCTAAATATATTTTAAAGAAGAAATGATTATTGTTCAGT GTCTTTAAAATTAGTTTTTAAAATCTCATTTGTTTTGACATTTCAAACCA AGTTAAGTATTCTTTTTCTCACCCTCCTTGAGACGGAGTCTTCCTCTTTC ACCCAGGCTGGAGTGCAGTGGTGCATTCTTGGCTCACTGCAACCTTTGCC TCGCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGACTATCTGGGATT ACAGGCACCTGTCACCACGCCAGGCTAATTTTTTGTATTTTTCGTAGAGA CGGGGTTTCATCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGA TCTGCCCACCTCGGCCTCCCAAAGTGCCAGGAATACAGGCATGAACCACC ACACCTGGCCATTAACCATTCTTGAAATATCACGTTGCATTCTTTAAAAG TTCTAATCTTTCATATACATAAATTACAACACAAATATTTATACTCTAAT AGTATTCACATTATAGTAAATTTTTTTTCATGCTCTGTCGCCCAGGCTGG AGTGAAGTGGTGCCATCTCGTCTCATTGCAACCCTCACCTCCCGGGTTCA AGTGATTGTCCTGCCTCAGCCTCCTGAATACCTGGGATTACAGGCGAATG CCACCACTCCCAGCAAATTTTGTGTATTTTTAGTAGAGATGGGGTTTCAC CATGTTGGCCAGGCTGGTCTCAAAATCCTGAGGCTGCCTTGGCCTCCCAA AGTGCTGGGATTAGAGGTGTGAGACACCATGCCCGGCCATAATAATAAAT CTTATTTTATCTTTTTTTTTGAGACGGAGTTTTGCTAGGGTTGCCCAGGC TGGAGTGCAATGGCTCAGTCTGAGCTCACCGCAACCTCCACCTCCAGGTT CAAATGATTCTCCCGCCTCAGCCTATCGAGTAGCTGCAATTACAGACGTG CGCCACCACGCCTGGCTAATTTTTTGTATTTTAAGTAGAGAAGGGTTTTC TTCATGTTGCTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCACCT GCCTCAGCCTCCCAAAGTGCTGGAATTACAGGTATGACTCACTGCACCTG GCTCATAATAGTACATTTTTAAAAACACCATAAAATATAATCCTTGCAAC ACTCAATTATACCATCTGGTCGGATCTATCAGCAGATGGCACCCGAGACA TACGGATTGGAAATTTTGATCTTATTATGAATGAATCCAGTCCAGAAATG CCCACCCTGCCCCCTGCTGGCTCCTGGGGCTCTGCTCTTTGGGGCAATCA TGATGAAATTGTGGCAGAGAGTAGAAGTTGAGCCCCATTGCATGCCCTGA GTTCTTGTTGCCTCTCTATTATCAGGAAAAGGAGGTGAGATTGAAAGATG AAAAGTGCTGGGACTTCTGCTGAGAAGAGAAAAAAGAACAAGATGTATTG ATCTTACTGTATGCCAGACCCCATGCCAAGCCCTAAACATGAACCATCTC ATTGGATCCTACCAAGGTCCCATAAGCTGTTGGACATCATCATCCTCATT TTACAGGAAGCTGAGGCTCTAGGCTAACATCCCTGACAGCAACACCAGCC CCTGAGTACACAGCAGGATCCTTCACTTGGGTGCCCATTATGCAGAATTC CTCAGCACAGGGAAGGTCACTCATCACCCACAGGCCCTTGATCGTTATCC ACCCTTTGATGCTGTCAGATTCCAGAACACGCTGCACTAGTCTCTTCCTT CATAGGGAGAGAGGGGAGGTGTTATGAGAAAATCTCTCATCAATCTGACC TAGCTCCCCCAAAAGATGTAACTTTTAAAATGTCAGATGGAAATATTTAA AAAGTGTTATATGCCTGTATAGTTTTAGTATTTTACTTAAAGGGAATGTG GCTGTCTTTACTGGCTACAACCAGTTTAATTCAAGAAGGGCTGCTGGTCA TCAGGAGAACAAGCAAGGGTTGATGCTGCCCAGAGTCTCCAGCTAATACA CAATATGGACATCCCCTTCCAGGGCAGCGGGAAGAGAGTGGCTCCTTGTG CAGTGAAGCTGACATCCACCAACTAAGGCTTCTGGAAGCATGTGGAGACT CACAGGGAGTGGGCAGGGTCTCAGCATCTGGATAGCGGTGAAAGACCCTG AGAAGAAGGTGCTTTCCGTGTGGATTGGCTCACTGTTCTTGCCCAGCAAT GTTCCAGGCCTTTGGTGTCCACCTAGTGTGTATTAACCCACTGAACAGCC ACAGAAACTAACAAGGAGTTAACAGACATCTAAAGAAGTGAAGAACTGGA GGAGGCCAAGCCAAGCGTGGTGGTCCACGCCTATACTCCCTGCATTTTGG GAGGCCAAGGCAGGAGAATCACAAGCTCAGGAGTTCCAGATCAGCCTGGG GAAGACAGCGAGGCCTTGTCTCTACTAAAAAGAAGTATCCAGGTGTGGTG GCTCACACAGCTGTAGTCATAGCTACTCAGGAGGCTGAGGTGGGTGGATC GCTTGAACCCCGGAAATTGAGGTTGCAGTGAGGTATGATTGTGCCACTGC ACTGTAGCCTGAGTGACAGGAGACCTTTAAAAAACAAACAAACAAAAAAG CCTGACACAGTGGCTCACACCTGTAACCCCAGCACTTTGGTAGGCCTACT TGCATGAATCACCCAAAGTCAGGAGTTTGAGACCAGCCTGACCAACATAG TGAGGAAACCCTGTCTCTACTAAACATACACAAATTAGCTGGGCATGGTG GTGCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCAT TTAAACCCCAGGTGGAGGTTGCAGTCAGCTCAGATGGCACCATTGCACTC TAAACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCCAATAAAAGAA TGGGAGGAAACTGATTACAATAACCAAATTTCATTTAAATGCCTTGATTT TCTTGGGCTGCATCTTATTGATTGGACAACTCAGTCAGTGCCTTTTGTTT TTTCCATCAATAACTGAAGATTCCTGAGGCTTAAACTGGAAAACAGGTTA CTTAATAATAGAGGGCACCAGACAGATTCTGCTCAGTTTTCCTTTATTTC TGATTGTTTCTTTACAACCATCCATGCAAGAGTAACTCCCTCATGTATTC TCAAGCCTGAATTCCACTCTAGACATTCAGATTCCCATTTTCGACTCTAC AGGACACAGGTCCCCAAAGTCCCATCGAATCCATGGCAACATTTCCCCCA AGTCCGGCCCCTGCTTGATCAGCTTTCCTTTCCCACTTTCAGAGCCTATG TGTGAAATGATGGGTTCTGTGCTCCCTTTAGGATGTACCTAAGACCTAGG TTTTAGTTTCCAAGTGTCCAGAAGAAAGCGTTTGACATACCCATCCAAAT AGGCAGGCATTCAACAGCAGTATTGATCTGCCTCCAGGTCATAAAATGAC CTGTTGCCACAGTCAGGGCAGTAGTCAGTACAGAACAAGATCCTCTTGGG GTGCCTTAAGTCCCTCACTCTGTTCATCAGCTCAGCCCTAATTTGAGCAA ATCTGCTCCAGCAGAGAGTACCATCAGCACCATAACTCTCCCGGGGGGCA GGATACAGCTCCACGCATAAGTTTTTGAGTATGATTGTGTGGCTCAGCAG GTTCTCCAGGGTGGCCATGCAGATGGGATTTCCACAGAAGCTGAAGGTGT TGAGCTCAAAGCAGCGGCTCAGGGCAGGCAAGATGGCGTTGACTTGGGAG TCTATGATGCCACAGTCATCTAAATCCAGGTACTCAAGGGTGGCTGCAAC TTTTTCTAGGAGAATTTGGAGAGGCACAAGACTGTAATTGGTCAGTCTGA TGCCACTCAGGTCCAGGGTCTTTAGTTGACTGATACTCGGGCACTGGGAT AGATGCTTCAAGTCTGATTCCAAAAGCACACAGTTAGTTATTGTGAGGAA CTTTAACGAGGTCTTCAGACAGCTGGGGAGAGAGAGCAAGAAGTTAATTC TGGGGAATCATAGGGGTGAGTGGAGGGTGGTGGGGAATGGCTTCAAGGTA ATGGATGGAGACCTTTTTGCCCAAGTCCAGGGTCATTCTGATGGCCTGAT GGTCAACACTTAGGATGATGTGTGATGAAGAGCTTTGCCACCGAGGTCAA TTCCACTTTAGACCCGGCCCAGTAACTCACACCTGTAATCCCAGCACTTT GGGAGGCTGAGACTGGTGGATTCCTTGAGATCAGGAGTTTGAGACCAGCC TGCTGAACATGGCAAAACCTCCTCTCTACTAAAAATCCAAAAATTAGCCA GGTGTGGTGGGGGGAGCCTGCAATTCCAGCTACTTGGGAAGCTGAGGCAG AAGAATCGCTTGAACCCAGGAGGTGTAGGTTGCAGTGAGCAGAGATCATG CCACTACACTCCAGCCTGGGTGACAGAGAGAGACTCTGTATTAAAAAAAA AAAAGGAGAAAAAATAATTCCATTTGAGGCTGAGTCACTTCACCATCATT TATAGGAATGGATCAAGTTCACAGAATCCCTAAAGCTCCCTTTCCTCATC TGTCAGGCAGAAAACCACATCCCTGGGCCACAGGAGCCCAGTGGAGATTC AGGCATAAAGGACAAACCCAGACAGGATCCTGCAACATCAGCTACGGTGG GCGGGCTGCAGGCGTCCCTGACATGCCTGTATCATCAGCAAACCATCTAT CACTTTCACCATTCTTTGTGCCTGCACCCTGACCCTCTGTTTCAGAATCA TGCATTGCCTAGATAATTAATTTACCTGGAGCTCAAAAGAAACTTTTACA ACAGGGAATTAGAGATGGGATCATTCATGTTCACCAAACTGTGGGGCACA AAGCTGATTTTCTGACAAGTGCAGGTTTGCTGAACATTCCCCTCTTCAGT GCCCACTTCACTTCCCTACTTCACATCATCTTCTTAAAAATTATCTTGTT GGCTGGGCGTGGTAGCTCTCGCCTATAATCCCAGCACTTTGGGAGTCCAT GGTGGGTGGATCACCTGAAGTCAGGAGTTGGAGAATAACCTGGCCAACAT GGTGAAACCCTGTCTCTACTTAAAATATAAAAATTAGCCAGGTGTGGTGG CTCACGCCTGTAATCCCAGGCACTCAGGAGGCTGAGGCAGGAGAATCGCA TGAACCTGGGAGGCAGAAGTTGCTGCGAGCTGAGATGTCACAACTGCACT GTAGCCTAGACGATCAAAGAGAAACTCCATCTCAGAAAAAAAAAGTTATC TTGTTTGTTTTTACTTTTGTTTATTCATTTCTGACAGGGGTCTTGGTATG TTAGCCAGACTGGTCTTAAACTCCTAGGCTCAAGCTATCCTCTTGCCTCA GACTCCCAAAGTGATAGGATTACAGGCATGAGCCACCGCCCCTGGCG	C C	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01891.hp2 HG02615.hp1 HG02622.hp2 others(2): Show HG01891.hp2 HG02615.hp1 HG02622.hp2 HG03225.hp2 NA18906.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0004 a0007c0006t0004	a0007c0006t0004g0012 a0007c0006t0004g0065 a0007c0006t0004g0012 a0007c0006t0004g0065	5	322	0.0155	-5996	c.875 others(13): Show c.875+324_*4009del		PRAMEF4	ENSG00000243073.4	transcript	ENST00000235349.6	protein_coding	4/4					chr1	TogoVar
PRB3_chr12_11260914_11274707	11267400	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG01167.hp2 HG01169.hp2 HG01261.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18961.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19075.hp2 NA19076.hp1 NA19080.hp1 NA19086.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0003 a0005 a0006 others(5): Show a0003 a0005 a0006 a0013 a0016 a0022 a0026 a0027	a0003c0003 a0003c0028 a0005c0005 others(7): Show a0003c0003 a0003c0028 a0005c0005 a0006c0006 a0006c0035 a0013c0012 a0016c0017 a0022c0034 a0026c0030 a0027c0027	a0003c0003t0002 a0003c0028t0002 a0005c0005t0002 others(7): Show a0003c0003t0002 a0003c0028t0002 a0005c0005t0002 a0006c0006t0002 a0006c0035t0002 a0013c0012t0002 a0016c0017t0002 a0022c0034t0002 a0026c0030t0002 a0027c0027t0002	a0003c0003t0002g0004 a0003c0003t0002g0013 a0003c0003t0002g0022 others(12): Show a0003c0003t0002g0004 a0003c0003t0002g0013 a0003c0003t0002g0022 a0003c0003t0002g0029 a0003c0003t0002g0060 a0003c0028t0002g0062 a0005c0005t0002g0008 a0005c0005t0002g0057 a0006c0006t0002g0009 a0006c0035t0002g0059 a0013c0012t0002g0018 a0016c0017t0002g0027 a0022c0034t0002g0058 a0026c0030t0002g0063 a0027c0027t0002g0061	80	442	0.1810	1	c.848 others(4): Show c.848dupC	p.His others(5): Show p.His284fs	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	886/1227	848/1056	283/351		chr12	TogoVar
PRM3_chr16_11268199_11278629	11273286	A A	G G	stop_lost stop_lost	HIGH	HG01496.hp1 HG02280.hp1 HG02451.hp1 others(9): Show HG01496.hp1 HG02280.hp1 HG02451.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp2 NA18906.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 a0001c0001t0003 a0002c0002t0003 a0002c0002t0006	a0001c0001t0003g0000 a0002c0002t0003g0000 a0002c0002t0006g0000 a0001c0001t0003g0000 a0002c0002t0003g0000 a0002c0002t0006g0000	12	412	0.0291	0	c.310 others(3): Show c.310T>C	p.Ter others(11): Show p.Ter104Argext*?	PRM3	ENSG00000178257.4	transcript	ENST00000327157.4	protein_coding	1/1	344/431	310/312	104/103		chr16	TogoVar
PRR12_chr19_49586182_49631439	49596852	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01099.hp2 HG01175.hp1 others(6): Show HG00735.hp2 HG01099.hp2 HG01175.hp1 HG01993.hp1 HG03516.hp1 NA18906.hp1 NA18979.hp1 NA18982.hp2 NA19065.hp1	a0003 a0003	a0003c0005 a0003c0011 a0003c0005 a0003c0011	a0003c0005t0001 a0003c0011t0001 a0003c0011t0002 a0003c0005t0001 a0003c0011t0001 a0003c0011t0002	a0003c0005t0001g0012 a0003c0005t0001g0202 a0003c0005t0001g0220 others(6): Show a0003c0005t0001g0012 a0003c0005t0001g0202 a0003c0005t0001g0220 a0003c0005t0001g0265 a0003c0005t0001g0272 a0003c0005t0001g0278 a0003c0005t0001g0283 a0003c0011t0001g0003 a0003c0011t0002g0065	9	320	0.0281	1	c.252 others(5): Show c.2522dupC	p.Pro others(5): Show p.Pro842fs	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	4/14	2996/7416	2523/6111	841/2036	INFO_REALIGN_3_PRIME	chr19	TogoVar
PRRT1B_chr9_131540523_131564815	131545620	A A	AGGCAGGA others(8): Show AGGCAGGAGCTGGAGG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01167.hp1 HG01891.hp2 HG02451.hp2 others(11): Show HG01167.hp1 HG01891.hp2 HG02451.hp2 HG02647.hp1 HG02886.hp1 HG02970.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA21309.hp2	a0005 a0005	a0005c0006 a0005c0009 a0005c0006 a0005c0009	a0005c0006t0007 a0005c0006t0014 a0005c0006t0022 others(5): Show a0005c0006t0007 a0005c0006t0014 a0005c0006t0022 a0005c0006t0032 a0005c0006t0034 a0005c0006t0036 a0005c0009t0016 a0005c0009t0044	a0005c0006t0007g0076 a0005c0006t0007g0077 a0005c0006t0014g0018 others(8): Show a0005c0006t0007g0076 a0005c0006t0007g0077 a0005c0006t0014g0018 a0005c0006t0014g0079 a0005c0006t0022g0037 a0005c0006t0032g0018 a0005c0006t0034g0080 a0005c0006t0036g0018 a0005c0009t0016g0078 a0005c0009t0016g0081 a0005c0009t0044g0082	14	456	0.0307	15	c.12_ others(22): Show c.12_25+1dupAGCTGGAGGGGCAGG		PRRT1B	ENSG00000283526.2	transcript	ENST00000636672.2	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr9	TogoVar
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
PTEN_chr10_87858625_87976930	87960876	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(84): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01175.hp1 HG01346.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp1 HG02602.hp2 HG02735.hp1 HG02818.hp2 HG02970.hp1 HG03486.hp1 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19059.hp2 NA19066.hp2 NA19075.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(27): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0085 a0001c0001t0100	a0001c0001t0002g0012 a0001c0001t0002g0141 a0001c0001t0002g0207 others(84): Show a0001c0001t0002g0012 a0001c0001t0002g0141 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0253 a0001c0001t0002g0263 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0004g0012 a0001c0001t0004g0206 a0001c0001t0004g0208 a0001c0001t0004g0219 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0234 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0250 a0001c0001t0004g0254 a0001c0001t0004g0269 a0001c0001t0004g0273 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0006g0103 a0001c0001t0009g0102 a0001c0001t0009g0120 a0001c0001t0010g0007 a0001c0001t0011g0231 a0001c0001t0011g0262 a0001c0001t0011g0264 a0001c0001t0015g0109 a0001c0001t0015g0110 a0001c0001t0015g0111 a0001c0001t0015g0113 a0001c0001t0016g0211 a0001c0001t0016g0272 a0001c0001t0016g0285 a0001c0001t0017g0226 a0001c0001t0017g0235 a0001c0001t0017g0251 a0001c0001t0018g0255 a0001c0001t0018g0258 a0001c0001t0018g0259 a0001c0001t0019g0256 a0001c0001t0019g0257 a0001c0001t0019g0280 a0001c0001t0023g0112 a0001c0001t0023g0114 a0001c0001t0023g0115 a0001c0001t0038g0242 a0001c0001t0039g0261 a0001c0001t0043g0266 a0001c0001t0044g0249 a0001c0001t0045g0279 a0001c0001t0046g0233 a0001c0001t0047g0237 a0001c0001t0048g0217 a0001c0001t0049g0260 a0001c0001t0050g0241 a0001c0001t0051g0290 a0001c0001t0052g0232 a0001c0001t0053g0270 a0001c0001t0054g0212 a0001c0001t0055g0281 a0001c0001t0056g0265 a0001c0001t0085g0190 a0001c0001t0100g0205	87	311	0.2797	1	c.802 others(6): Show c.802-3dupT		PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	7/8				INFO_REALIGN_3_PRIME	chr10	TogoVar
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
PTPRQ_chr12_80439235_80685273	80484408	T T	TTTTC TTTTC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG01074.hp2 HG01192.hp2 others(31): Show HG00438.hp1 HG01074.hp2 HG01192.hp2 HG01243.hp1 HG01891.hp2 HG02071.hp2 HG02109.hp1 HG02148.hp1 HG02717.hp2 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18977.hp2 NA18984.hp2 NA18991.hp1 NA19076.hp1 NA19080.hp1 NA19084.hp1 NA19240.hp1 NA19240.hp2	a0003 a0005 a0010 others(14): Show a0003 a0005 a0010 a0012 a0013 a0014 a0017 a0028 a0038 a0044 a0045 a0046 a0050 a0056 a0057 a0060 a0063	a0003c0004 a0005c0003 a0005c0079 others(16): Show a0003c0004 a0005c0003 a0005c0079 a0010c0007 a0012c0017 a0012c0069 a0013c0012 a0014c0020 a0017c0027 a0028c0074 a0038c0038 a0044c0039 a0045c0071 a0046c0046 a0050c0073 a0056c0067 a0057c0070 a0060c0072 a0063c0080	a0003c0004t0005 a0005c0003t0001 a0005c0003t0002 others(20): Show a0003c0004t0005 a0005c0003t0001 a0005c0003t0002 a0005c0079t0001 a0010c0007t0002 a0010c0007t0004 a0012c0017t0002 a0012c0017t0004 a0012c0069t0005 a0013c0012t0001 a0014c0020t0001 a0017c0027t0001 a0017c0027t0004 a0028c0074t0002 a0038c0038t0004 a0044c0039t0003 a0045c0071t0003 a0046c0046t0003 a0050c0073t0003 a0056c0067t0002 a0057c0070t0001 a0060c0072t0002 a0063c0080t0003	a0003c0004t0005g0091 a0005c0003t0001g0105 a0005c0003t0001g0107 others(31): Show a0003c0004t0005g0091 a0005c0003t0001g0105 a0005c0003t0001g0107 a0005c0003t0002g0104 a0005c0003t0002g0106 a0005c0003t0002g0109 a0005c0003t0002g0110 a0005c0003t0002g0112 a0005c0003t0002g0113 a0005c0079t0001g0111 a0010c0007t0002g0168 a0010c0007t0002g0169 a0010c0007t0002g0170 a0010c0007t0004g0164 a0012c0017t0002g0093 a0012c0017t0002g0100 a0012c0017t0004g0098 a0012c0069t0005g0092 a0013c0012t0001g0047 a0013c0012t0001g0067 a0013c0012t0001g0086 a0014c0020t0001g0090 a0017c0027t0001g0097 a0017c0027t0004g0095 a0028c0074t0002g0099 a0038c0038t0004g0041 a0044c0039t0003g0156 a0045c0071t0003g0131 a0046c0046t0003g0089 a0050c0073t0003g0096 a0056c0067t0002g0004 a0057c0070t0001g0102 a0060c0072t0002g0132 a0063c0080t0003g0103	34	176	0.1932	4	c.118 others(17): Show c.1187-6_1187-3dupTCTT		PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	8/44				INFO_REALIGN_3_PRIME	chr12	TogoVar
RAD50_chr5_132551977_132651349	132605000	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0237 a0001c0001t0016g0237	1	274	0.0036	0	c.271 others(6): Show c.2718+1G>A		RAD50	ENSG00000113522.14	transcript	ENST00000378823.8	protein_coding	16/24					chr5	TogoVar
RAET1L_chr6_150013334_150030532	150021990	G G	T T	stop_gained stop_gained	HIGH	HG02109.hp1 HG02559.hp1 HG02723.hp2 others(2): Show HG02109.hp1 HG02559.hp1 HG02723.hp2 HG03130.hp1 NA18906.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0017 a0007c0008t0001g0017	5	466	0.0107	0	c.339 others(3): Show c.339C>A	p.Tyr others(4): Show p.Tyr113*	RAET1L	ENSG00000155918.8	transcript	ENST00000367341.6	protein_coding	2/5	400/1346	339/741	113/246		chr6	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
RFPL1_chr22_29433583_29447455	29441610	C C	T T	stop_gained stop_gained	HIGH	HG03098.hp2 HG03471.hp1 NA18906.hp1 HG03098.hp2 HG03471.hp1 NA18906.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0010 a0003c0006t0001g0010	3	442	0.0068	0	c.442 others(3): Show c.442C>T	p.Arg others(4): Show p.Arg148*	RFPL1	ENSG00000128250.5	transcript	ENST00000354373.2	protein_coding	2/2	651/1496	442/954	148/317		chr22	TogoVar
RGPD4_chr2_107821892_107897544	107838282	C C	T T	stop_gained stop_gained	HIGH	HG01081.hp2 HG01167.hp2 HG02257.hp2 others(17): Show HG01081.hp2 HG01167.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0006 a0019 a0006 a0019	a0006c0007 a0006c0008 a0006c0076 others(3): Show a0006c0007 a0006c0008 a0006c0076 a0006c0077 a0019c0030 a0019c0031	a0006c0007t0005 a0006c0007t0018 a0006c0008t0005 others(5): Show a0006c0007t0005 a0006c0007t0018 a0006c0008t0005 a0006c0008t0012 a0006c0076t0005 a0006c0077t0030 a0019c0030t0014 a0019c0031t0014	a0006c0007t0005g0193 a0006c0007t0005g0194 a0006c0007t0005g0195 others(17): Show a0006c0007t0005g0193 a0006c0007t0005g0194 a0006c0007t0005g0195 a0006c0007t0005g0196 a0006c0007t0005g0197 a0006c0007t0005g0201 a0006c0007t0018g0199 a0006c0007t0018g0200 a0006c0008t0005g0205 a0006c0008t0005g0206 a0006c0008t0005g0207 a0006c0008t0005g0208 a0006c0008t0005g0209 a0006c0008t0012g0203 a0006c0008t0012g0204 a0006c0008t0012g0210 a0006c0076t0005g0192 a0006c0077t0030g0202 a0019c0030t0014g0182 a0019c0031t0014g0082	20	372	0.0538	0	c.166 others(3): Show c.166C>T	p.Arg others(3): Show p.Arg56*	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	3/23	288/7212	166/5277	56/1758		chr2	TogoVar
RHBG_chr1_156364211_156390219	156384556	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(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
RIBC2_chr22_45408693_45437509	45432357	C C	T T	stop_gained stop_gained	HIGH	HG02258.hp1 HG02965.hp2 HG02970.hp1 others(1): Show HG02258.hp1 HG02965.hp2 HG02970.hp1 NA18906.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0056 a0006c0007t0001g0158 a0006c0007t0001g0169 a0006c0007t0001g0056 a0006c0007t0001g0158 a0006c0007t0001g0169	4	422	0.0095	0	c.114 others(4): Show c.1144C>T	p.Arg others(4): Show p.Arg382*	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding	7/7	1338/1490	1144/1149	382/382		chr22	TogoVar
RNF224_chr9_137222502_137234640	137228812	CCT CCT	C C	frameshift_variant frameshift_variant	HIGH	HG02109.hp2 HG02257.hp1 HG02572.hp2 others(9): Show HG02109.hp2 HG02257.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp1 NA18906.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0001g0001 a0003c0003t0002g0001	12	392	0.0306	-2	c.198 others(9): Show c.198_199delCT	p.Cys others(4): Show p.Cys67fs	RNF224	ENSG00000233198.4	transcript	ENST00000445101.4	protein_coding	3/3	742/1569	198/471	66/156		chr9	TogoVar
RPL28_chr19_55380932_55397085	55388029	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00597.hp1 HG00621.hp1 others(52): Show HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01433.hp1 HG01516.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02145.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02809.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18977.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19060.hp2 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0016 a0002c0002t0022 a0002c0002t0031 a0002c0002t0039 a0002c0002t0051 a0002c0002t0052	a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0002g0001 others(17): Show a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0002g0001 a0002c0002t0003g0001 a0002c0002t0004g0001 a0002c0002t0005g0001 a0002c0002t0006g0002 a0002c0002t0007g0003 a0002c0002t0007g0008 a0002c0002t0008g0001 a0002c0002t0009g0009 a0002c0002t0009g0019 a0002c0002t0010g0001 a0002c0002t0011g0001 a0002c0002t0016g0001 a0002c0002t0022g0001 a0002c0002t0031g0008 a0002c0002t0039g0001 a0002c0002t0051g0001 a0002c0002t0052g0011	55	309	0.1780	1	c.307 others(4): Show c.307dupC	p.Arg others(5): Show p.Arg103fs	RPL28	ENSG00000108107.15	transcript	ENST00000344063.7	protein_coding	4/5	350/4209	308/414	103/137	INFO_REALIGN_3_PRIME	chr19	TogoVar
RSPH10B_chr7_5921136_5975689	5943455	G G	A A	stop_gained stop_gained	HIGH	NA18906.hp1 NA18906.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0036 a0012c0012t0001g0036	1	70	0.0143	0	c.162 others(4): Show c.1627C>T	p.Gln others(4): Show p.Gln543*	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	15/21	1904/3122	1627/2613	543/870		chr7	TogoVar
RXFP2_chr13_31734526_31808389	31786554	T T	TAA TAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00639.hp2 others(98): Show HG00099.hp2 HG00280.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01975.hp1 HG02004.hp1 HG02109.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18950.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18991.hp2 NA18994.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0012 a0003c0005 others(2): Show a0001c0001 a0002c0012 a0003c0005 a0004c0006 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0012t0002 a0003c0005t0002 a0004c0006t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(95): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0365 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0217 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0002c0012t0002g0113 a0003c0005t0002g0107 a0003c0005t0002g0228 a0003c0005t0002g0229 a0004c0006t0001g0256 a0006c0009t0001g0163	101	227	0.4449	2	c.100 others(15): Show c.1002-3_1002-2dupAA		RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr13	TogoVar
SCAPER_chr15_76342904_76910340	76883817	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show HG00140.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0003 a0002c0011 others(5): Show a0002c0002 a0002c0003 a0002c0011 a0002c0015 a0002c0022 a0002c0023 a0002c0025 a0011c0024	a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 others(9): Show a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0011 a0002c0011t0002 a0002c0015t0002 a0002c0022t0002 a0002c0023t0002 a0002c0025t0002 a0011c0024t0002	a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0003t0002g0186 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0191 a0002c0003t0002g0192 a0002c0003t0002g0193 a0002c0003t0002g0198 a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0294 a0002c0003t0005g0195 a0002c0003t0006g0196 a0002c0003t0007g0249 a0002c0003t0011g0312 a0002c0011t0002g0225 a0002c0011t0002g0274 a0002c0011t0002g0285 a0002c0015t0002g0220 a0002c0015t0002g0276 a0002c0022t0002g0290 a0002c0023t0002g0228 a0002c0025t0002g0262 a0011c0024t0002g0284	117	310	0.3774	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/32	102/5033	1/4203	1/1400		chr15	TogoVar
SCART1_chr10_133448945_133474760	133464740	CTGGGGTG CTGGGGTG	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1	a0003 a0004 a0007 others(7): Show a0003 a0004 a0007 a0009 a0017 a0018 a0023 a0026 a0027 a0029	a0003c0003 a0003c0007 a0003c0008 others(24): Show a0003c0003 a0003c0007 a0003c0008 a0003c0009 a0003c0024 a0003c0027 a0003c0039 a0003c0040 a0004c0005 a0004c0010 a0004c0019 a0004c0020 a0004c0021 a0004c0043 a0004c0057 a0004c0058 a0004c0065 a0007c0016 a0007c0034 a0009c0025 a0009c0047 a0017c0060 a0018c0031 a0023c0050 a0026c0045 a0027c0033 a0029c0032	a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 others(28): Show a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 a0003c0009t0003 a0003c0009t0006 a0003c0024t0003 a0003c0027t0007 a0003c0039t0003 a0003c0040t0003 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0010t0003 a0004c0019t0007 a0004c0019t0008 a0004c0020t0005 a0004c0021t0003 a0004c0043t0005 a0004c0057t0003 a0004c0058t0019 a0004c0065t0003 a0007c0016t0004 a0007c0034t0003 a0009c0025t0003 a0009c0047t0004 a0017c0060t0003 a0018c0031t0003 a0023c0050t0004 a0026c0045t0004 a0027c0033t0004 a0029c0032t0004	a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(68): Show a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0168 a0003c0007t0003g0099 a0003c0007t0003g0102 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0106 a0003c0007t0003g0110 a0003c0007t0003g0112 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0009t0003g0121 a0003c0009t0006g0024 a0003c0009t0006g0124 a0003c0024t0003g0103 a0003c0024t0003g0107 a0003c0024t0003g0137 a0003c0027t0007g0120 a0003c0027t0007g0125 a0003c0039t0003g0005 a0003c0040t0003g0127 a0004c0005t0003g0027 a0004c0005t0003g0037 a0004c0005t0003g0054 a0004c0005t0003g0118 a0004c0005t0005g0164 a0004c0005t0005g0166 a0004c0005t0007g0144 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0035 a0004c0010t0003g0095 a0004c0010t0003g0111 a0004c0019t0007g0119 a0004c0019t0008g0133 a0004c0019t0008g0134 a0004c0019t0008g0135 a0004c0020t0005g0030 a0004c0020t0005g0163 a0004c0021t0003g0100 a0004c0021t0003g0101 a0004c0021t0003g0108 a0004c0021t0003g0109 a0004c0043t0005g0165 a0004c0057t0003g0132 a0004c0058t0019g0060 a0004c0065t0003g0029 a0007c0016t0004g0018 a0007c0016t0004g0050 a0007c0034t0003g0097 a0009c0025t0003g0031 a0009c0025t0003g0123 a0009c0047t0004g0055 a0017c0060t0003g0157 a0018c0031t0003g0122 a0023c0050t0004g0018 a0026c0045t0004g0138 a0027c0033t0004g0053 a0029c0032t0004g0018	102	431	0.2367	-7	c.211 others(16): Show c.2117_2123delTGTGGGG	p.Val others(5): Show p.Val706fs	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	7/12	2170/4929	2117/3084	706/1027	INFO_REALIGN_3_PRIME	chr10	TogoVar
SEC14L4_chr22_30483902_30510695	30495277	C C	A A	stop_gained stop_gained	HIGH	HG01099.hp2 HG01884.hp2 HG01891.hp1 others(11): Show HG01099.hp2 HG01884.hp2 HG01891.hp1 HG02717.hp1 HG02809.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1	a0004 a0008 a0004 a0008	a0004c0005 a0008c0018 a0004c0005 a0008c0018	a0004c0005t0006 a0008c0018t0006 a0004c0005t0006 a0008c0018t0006	a0004c0005t0006g0015 a0004c0005t0006g0020 a0004c0005t0006g0041 others(5): Show a0004c0005t0006g0015 a0004c0005t0006g0020 a0004c0005t0006g0041 a0004c0005t0006g0148 a0004c0005t0006g0157 a0004c0005t0006g0165 a0004c0005t0006g0168 a0008c0018t0006g0278	14	422	0.0332	0	c.400 others(3): Show c.400G>T	p.Glu others(4): Show p.Glu134*	SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding	5/12	484/2510	400/1221	134/406		chr22	TogoVar
SEMA4C_chr2_96854718_96875080	96863755	C C	T T	stop_gained stop_gained	HIGH	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0067 a0005c0005t0001g0067	1	348	0.0029	0	c.137 others(4): Show c.1370G>A	p.Trp others(4): Show p.Trp457*	SEMA4C	ENSG00000168758.11	transcript	ENST00000305476.10	protein_coding	12/15	1612/3652	1370/2502	457/833		chr2	TogoVar
SERPINB11_chr18_63697960_63728893	63712604	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0002 a0001c0005 a0001c0009 others(15): Show a0001c0002 a0001c0005 a0001c0009 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0004c0004 a0004c0007 a0004c0010 a0004c0017 a0004c0023 a0013c0031	a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 others(18): Show a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 a0001c0009t0001 a0001c0019t0004 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0022t0007 a0001c0027t0002 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0032t0002 a0004c0004t0002 a0004c0004t0005 a0004c0007t0002 a0004c0010t0001 a0004c0017t0002 a0004c0023t0002 a0013c0031t0002	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0005t0002g0001 a0001c0005t0002g0026 a0001c0005t0002g0040 a0001c0005t0002g0042 a0001c0005t0002g0100 a0001c0005t0002g0106 a0001c0005t0002g0135 a0001c0005t0006g0001 a0001c0009t0001g0010 a0001c0009t0001g0015 a0001c0019t0004g0010 a0001c0020t0002g0001 a0001c0021t0002g0044 a0001c0021t0002g0116 a0001c0022t0001g0104 a0001c0022t0007g0001 a0001c0027t0002g0010 a0001c0028t0002g0001 a0001c0029t0001g0044 a0001c0030t0001g0001 a0001c0032t0002g0119 a0004c0004t0002g0005 a0004c0004t0002g0007 a0004c0004t0002g0016 a0004c0004t0002g0023 a0004c0004t0002g0027 a0004c0004t0002g0043 a0004c0004t0002g0096 a0004c0004t0002g0099 a0004c0004t0002g0117 a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0125 a0004c0004t0002g0132 a0004c0004t0002g0133 a0004c0004t0005g0050 a0004c0007t0002g0011 a0004c0007t0002g0022 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0010t0001g0023 a0004c0017t0002g0118 a0004c0017t0002g0124 a0004c0023t0002g0095 a0013c0031t0002g0127	203	420	0.4833	0	c.268 others(3): Show c.268G>T	p.Glu others(3): Show p.Glu90*	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	4/8	330/1735	268/1179	90/392		chr18	TogoVar
SETSIP_chr1_92069533_92080411	92075125	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00621.hp2 HG00673.hp1 others(14): Show HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp1 HG01099.hp1 HG01433.hp1 HG01433.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp1 HG03669.hp1 NA18906.hp2 NA18940.hp1 NA18966.hp1 NA19030.hp1 NA19030.hp2 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0002t0001g0000 a0002c0004t0001g0000	17	362	0.0470	1	c.286 others(4): Show c.286dupG	p.Val others(4): Show p.Val96fs	SETSIP	ENSG00000230667.7	transcript	ENST00000596516.3	protein_coding	1/1	286/879	286/879	96/292		chr1	TogoVar
SIGLEC12_chr19_51486227_51506800	51501537	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0017	a0001c0002 a0001c0003 a0001c0005 others(23): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0020 a0001c0029 a0001c0030 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0003c0016 a0003c0017 a0003c0025 a0003c0048 a0003c0052 a0007c0018 a0017c0031	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0010t0002 a0001c0012t0002 a0001c0014t0003 a0001c0019t0003 a0001c0020t0001 a0001c0029t0001 a0001c0030t0003 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0048t0001 a0003c0052t0002 a0007c0018t0001 a0017c0031t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 others(83): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0003g0059 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0005g0084 a0001c0002t0005g0085 a0001c0002t0005g0086 a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0012 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0032 a0001c0003t0001g0063 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0102 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0029 a0001c0005t0001g0030 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0010t0002g0011 a0001c0012t0002g0031 a0001c0012t0002g0066 a0001c0012t0002g0076 a0001c0014t0003g0027 a0001c0019t0003g0034 a0001c0020t0001g0035 a0001c0029t0001g0052 a0001c0030t0003g0053 a0001c0032t0001g0061 a0001c0033t0001g0062 a0001c0034t0001g0101 a0001c0035t0001g0065 a0001c0036t0001g0067 a0001c0037t0001g0082 a0001c0038t0001g0098 a0001c0039t0001g0099 a0001c0040t0001g0103 a0003c0016t0001g0156 a0003c0016t0005g0047 a0003c0017t0006g0046 a0003c0017t0006g0155 a0003c0025t0005g0048 a0003c0048t0001g0139 a0003c0052t0002g0157 a0007c0018t0001g0050 a0007c0018t0001g0051 a0017c0031t0001g0057	228	430	0.5302	1	c.196 others(4): Show c.196dupG	p.Ala others(4): Show p.Ala66fs	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	263/2269	196/1788	66/595		chr19	TogoVar
SIGLEC12_chr19_51486227_51506800	51501649	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03831.hp1 HG06807.hp2 NA18906.hp1 NA18944.hp2 NA18956.hp2 NA19002.hp1 NA19030.hp2 NA19043.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0003 a0003	a0003c0006 a0003c0007 a0003c0009 others(12): Show a0003c0006 a0003c0007 a0003c0009 a0003c0011 a0003c0013 a0003c0016 a0003c0017 a0003c0025 a0003c0026 a0003c0027 a0003c0048 a0003c0049 a0003c0050 a0003c0051 a0003c0052	a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 others(15): Show a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 a0003c0009t0002 a0003c0011t0002 a0003c0013t0001 a0003c0013t0003 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0026t0002 a0003c0027t0001 a0003c0048t0001 a0003c0049t0004 a0003c0050t0001 a0003c0051t0003 a0003c0052t0002	a0003c0006t0001g0140 a0003c0006t0001g0143 a0003c0006t0001g0144 others(28): Show a0003c0006t0001g0140 a0003c0006t0001g0143 a0003c0006t0001g0144 a0003c0006t0001g0145 a0003c0006t0001g0154 a0003c0006t0004g0014 a0003c0007t0002g0009 a0003c0009t0002g0015 a0003c0009t0002g0146 a0003c0011t0002g0044 a0003c0011t0002g0045 a0003c0011t0002g0147 a0003c0011t0002g0153 a0003c0013t0001g0149 a0003c0013t0001g0152 a0003c0013t0003g0150 a0003c0013t0003g0151 a0003c0016t0001g0156 a0003c0016t0005g0047 a0003c0017t0006g0046 a0003c0017t0006g0155 a0003c0025t0005g0048 a0003c0026t0002g0160 a0003c0026t0002g0161 a0003c0027t0001g0158 a0003c0027t0001g0159 a0003c0048t0001g0139 a0003c0049t0004g0142 a0003c0050t0001g0141 a0003c0051t0003g0148 a0003c0052t0002g0157	53	430	0.1233	0	c.85C others(2): Show c.85C>T	p.Gln others(3): Show p.Gln29*	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	152/2269	85/1788	29/595		chr19	TogoVar

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