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
OR1S2_chr11_58198204_58209142	58203244	GCACCTTT others(26): Show GCACCTTTCATATCCTTATTCCTCAAGCTGTAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04115.hp2 HG04115.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0000 a0009c0010t0001g0000	1	424	0.0024	-33	c.866 others(40): Show c.866_898delTCTACAGCTTGAGGAATAAGGATATGAAAGGTG	p.Ile others(19): Show p.Ile289_Ala300delinsThr	OR1S2	ENSG00000197887.6	transcript	ENST00000641683.2	protein_coding	1/1	898/939	866/939	289/312		chr11	TogoVar
OR2A14_chr7_144118176_144136188	144129636	ACTT ACTT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(264): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0010 a0005c0005 others(1): Show a0001c0001 a0001c0010 a0005c0005 a0007c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0010t0001 a0005c0005t0001 a0005c0005t0009 a0007c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(48): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0004g0005 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0007g0006 a0001c0001t0008g0002 a0001c0001t0008g0011 a0001c0001t0010g0005 a0001c0001t0013g0063 a0001c0001t0014g0006 a0001c0001t0015g0025 a0001c0001t0017g0009 a0001c0001t0022g0057 a0001c0010t0001g0004 a0005c0005t0001g0002 a0005c0005t0009g0002 a0007c0006t0001g0003	267	424	0.6297	-3	c.530 others(10): Show c.530_532delTCT	p.Phe others(6): Show p.Phe177del	OR2A14	ENSG00000221938.5	transcript	ENST00000641068.1	protein_coding	2/2	653/2199	530/933	177/310	INFO_REALIGN_3_PRIME	chr7	TogoVar
OR2A7_chr7_144252663_144269792	144258792	GAGGCTGT others(8): Show GAGGCTGTGAAACAGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02132.hp1 HG02451.hp1 HG02615.hp1 others(16): Show HG02132.hp1 HG02451.hp1 HG02615.hp1 HG02965.hp2 HG03540.hp1 HG03927.hp1 NA18946.hp1 NA18946.hp2 NA18956.hp1 NA18968.hp2 NA18975.hp2 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19058.hp1 NA19062.hp1 NA19078.hp1 NA19087.hp1 NA19090.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0038 a0002c0003t0002g0039 others(2): Show a0002c0003t0002g0004 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0041	19	182	0.1044	-15	c.822 others(22): Show c.822_836delGCTGTTTCACAGCCT	p.Leu others(13): Show p.Leu275_Leu279del	OR2A7	ENSG00000243896.4	transcript	ENST00000641841.1	protein_coding	2/2	932/2062	822/933	274/310		chr7	TogoVar
OR2T12_chr1_248285139_248308424	248295049	CAGA CAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01099.hp2 HG02257.hp2 HG02970.hp2 others(3): Show HG01099.hp2 HG02257.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03540.hp1	a0011 a0019 a0021 a0011 a0019 a0021	a0011c0016 a0011c0029 a0019c0028 others(1): Show a0011c0016 a0011c0029 a0019c0028 a0021c0027	a0011c0016t0010 a0011c0029t0010 a0019c0028t0039 others(1): Show a0011c0016t0010 a0011c0029t0010 a0019c0028t0039 a0021c0027t0010	a0011c0016t0010g0022 a0011c0029t0010g0062 a0019c0028t0039g0060 others(1): Show a0011c0016t0010g0022 a0011c0029t0010g0062 a0019c0028t0039g0060 a0021c0027t0010g0061	6	404	0.0149	-3	c.527 others(10): Show c.527_529delTCT	p.Phe others(6): Show p.Phe176del	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding	3/3	797/5708	527/963	176/320		chr1	TogoVar
OR2T27_chr1_248644838_248660528	248650349	CAGA CAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00544.hp1 HG00558.hp2 others(61): Show HG00099.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02165.hp1 HG02257.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18961.hp1 NA18969.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19059.hp2 NA19065.hp2 NA19072.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp2 NA21309.hp1	a0003 a0004 a0005 others(9): Show a0003 a0004 a0005 a0013 a0021 a0024 a0026 a0029 a0034 a0037 a0041 a0050	a0003c0002 a0003c0046 a0003c0056 others(14): Show a0003c0002 a0003c0046 a0003c0056 a0003c0058 a0004c0081 a0005c0007 a0005c0027 a0013c0016 a0021c0036 a0021c0057 a0024c0025 a0026c0048 a0029c0061 a0034c0062 a0037c0073 a0041c0055 a0050c0067	a0003c0002t0001 a0003c0046t0001 a0003c0056t0001 others(14): Show a0003c0002t0001 a0003c0046t0001 a0003c0056t0001 a0003c0058t0001 a0004c0081t0002 a0005c0007t0001 a0005c0027t0001 a0013c0016t0001 a0021c0036t0001 a0021c0057t0010 a0024c0025t0001 a0026c0048t0001 a0029c0061t0001 a0034c0062t0001 a0037c0073t0001 a0041c0055t0013 a0050c0067t0014	a0003c0002t0001g0004 a0003c0002t0001g0005 a0003c0002t0001g0008 others(24): Show a0003c0002t0001g0004 a0003c0002t0001g0005 a0003c0002t0001g0008 a0003c0002t0001g0032 a0003c0002t0001g0063 a0003c0002t0001g0085 a0003c0002t0001g0123 a0003c0046t0001g0078 a0003c0056t0001g0075 a0003c0058t0001g0082 a0004c0081t0002g0041 a0005c0007t0001g0013 a0005c0007t0001g0015 a0005c0007t0001g0099 a0005c0027t0001g0036 a0013c0016t0001g0031 a0013c0016t0001g0070 a0013c0016t0001g0074 a0021c0036t0001g0068 a0021c0057t0010g0062 a0024c0025t0001g0037 a0026c0048t0001g0079 a0029c0061t0001g0067 a0034c0062t0001g0072 a0037c0073t0001g0124 a0041c0055t0013g0132 a0050c0067t0014g0135	64	382	0.1675	-3	c.533 others(10): Show c.533_535delTCT	p.Phe others(6): Show p.Phe178del	OR2T27	ENSG00000187701.5	transcript	ENST00000460972.4	protein_coding	2/2	624/1136	533/954	178/317		chr1	TogoVar
OR2W3_chr1_247890587_247901531	247896050	ACTC ACTC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01175.hp2 HG01192.hp2 HG01255.hp2 others(2): Show HG01175.hp2 HG01192.hp2 HG01255.hp2 HG04228.hp1 NA20805.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0000 a0011c0012t0001g0000	5	386	0.0130	-3	c.467 others(10): Show c.467_469delCCT	p.Ser others(6): Show p.Ser156del	OR2W3	ENSG00000238243.3	transcript	ENST00000360358.3	protein_coding	1/1	467/945	467/945	156/314	INFO_REALIGN_3_PRIME	chr1	TogoVar
OR52B6_chr11_5575877_5586884	5581135	GCCAGTGC others(20): Show GCCAGTGCTGATGTCTTGCTCTCTACCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG01243.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0000 a0009c0013t0001g0000	1	452	0.0022	-27	c.263 others(34): Show c.263_289delGTGCTGATGTCTTGCTCTCTACCACCA	p.Ser others(11): Show p.Ser88_Thr96del	OR52B6	ENSG00000187747.2	transcript	ENST00000345043.2	protein_coding	1/1	263/1008	263/1008	88/335	INFO_REALIGN_3_PRIME	chr11	TogoVar
OR52D1_chr11_5483685_5494749	5489193	ATCT ATCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00544.hp1 HG00558.hp2 others(84): Show HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01257.hp1 HG01258.hp2 HG01952.hp1 HG01981.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02735.hp2 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG04184.hp1 HG04204.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp2 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0008 a0002c0012 others(1): Show a0002c0003 a0002c0008 a0002c0012 a0002c0021	a0002c0003t0001 a0002c0008t0001 a0002c0012t0001 others(1): Show a0002c0003t0001 a0002c0008t0001 a0002c0012t0001 a0002c0021t0001	a0002c0003t0001g0000 a0002c0008t0001g0000 a0002c0012t0001g0000 others(1): Show a0002c0003t0001g0000 a0002c0008t0001g0000 a0002c0012t0001g0000 a0002c0021t0001g0000	87	468	0.1859	-3	c.492 others(10): Show c.492_494delCTT	p.Phe others(6): Show p.Phe164del	OR52D1	ENSG00000181609.5	transcript	ENST00000322641.5	protein_coding	1/1	514/1065	492/957	164/318	INFO_REALIGN_3_PRIME	chr11	TogoVar
OR52E5_chr11_5888208_5907730	5901221	GTCATCAT others(29): Show GTCATCATTGTCAGGACTTTGGTATTTGTGACTCCAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG03516.hp2 NA21309.hp1 HG02258.hp1 HG03516.hp2 NA21309.hp1	a0008 a0011 a0008 a0011	a0008c0013 a0011c0017 a0008c0013 a0011c0017	a0008c0013t0001 a0011c0017t0007 a0008c0013t0001 a0011c0017t0007	a0008c0013t0001g0076 a0008c0013t0001g0082 a0011c0017t0007g0006 a0008c0013t0001g0076 a0008c0013t0001g0082 a0011c0017t0007g0006	3	462	0.0065	-36	c.449 others(43): Show c.449_484delTCATTGTCAGGACTTTGGTATTTGTGACTCCATTCA	p.Ile others(13): Show p.Ile150_Phe161del	OR52E5	ENSG00000277932.2	transcript	ENST00000610445.2	protein_coding	3/3	739/2244	449/984	150/327	INFO_REALIGN_3_PRIME	chr11	TogoVar
OR5AU1_chr14_21149865_21161063	21155337	CAGA CAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp1 HG02572.hp2 HG02818.hp1 others(3): Show HG01109.hp1 HG02572.hp2 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0007 a0007c0013t0002 a0007c0013t0007	a0007c0013t0002g0000 a0007c0013t0007g0000 a0007c0013t0002g0000 a0007c0013t0007g0000	6	468	0.0128	-3	c.533 others(10): Show c.533_535delTCT	p.Phe others(6): Show p.Phe178del	OR5AU1	ENSG00000169327.5	transcript	ENST00000304418.5	protein_coding	1/1	726/1199	533/936	178/311		chr14	TogoVar
OR5H6_chr3_98259244_98270356	98264643	TTGTAACC others(2): Show TTGTAACCAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(90): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02129.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18946.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18970.hp2 NA18979.hp2 NA18998.hp1 NA19003.hp1 NA19063.hp2 NA19076.hp2 NA19084.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0003c0017 a0011c0020 a0003c0003 a0003c0017 a0011c0020	a0003c0003t0001 a0003c0003t0005 a0003c0017t0001 others(1): Show a0003c0003t0001 a0003c0003t0005 a0003c0017t0001 a0011c0020t0001	a0003c0003t0001g0000 a0003c0003t0005g0000 a0003c0017t0001g0000 others(1): Show a0003c0003t0001g0000 a0003c0003t0005g0000 a0003c0017t0001g0000 a0011c0020t0001g0000	93	440	0.2114	-9	c.321 others(16): Show c.321_329delTGTAACCAC	p.Val others(13): Show p.Val108_Thr110del	OR5H6	ENSG00000230301.6	transcript	ENST00000615035.3	protein_coding	1/1	410/1113	321/930	107/309	INFO_REALIGN_3_PRIME	chr3	TogoVar
OR5K1_chr3_98458201_98477924	98470454	GAAATAGG others(5): Show GAAATAGGGAAGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19058.hp2 NA19058.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0011 a0008c0009t0002g0011	1	436	0.0023	-12	c.881 others(19): Show c.881_892delATAGGGAAGTAA	p.Asn others(13): Show p.Asn294_Val297del	OR5K1	ENSG00000232382.2	transcript	ENST00000642057.1	protein_coding	2/2	999/3466	881/927	294/308	INFO_REALIGN_3_PRIME	chr3	TogoVar
OR5P2_chr11_7790974_7801942	7796059	CCCTTAAT others(5): Show CCCTTAATCTCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01258.hp1 HG01258.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0000 a0005c0008t0001g0000	1	310	0.0032	-12	c.872 others(19): Show c.872_883delAGGAGATTAAGG	p.Lys others(19): Show p.Lys291_Gly295delinsArg	OR5P2	ENSG00000183303.3	transcript	ENST00000329434.3	protein_coding	1/1	883/969	872/969	291/322		chr11	TogoVar
OR5P3_chr11_7819818_7835840	7825817	ACTT ACTT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18948.hp2 NA18952.hp1 NA18971.hp2 others(3): Show NA18948.hp2 NA18952.hp1 NA18971.hp2 NA18982.hp1 NA18994.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	6	422	0.0142	-3	c.153 others(10): Show c.153_155delAAG	p.Arg others(5): Show p.Arg51del	OR5P3	ENSG00000182334.3	transcript	ENST00000641167.1	protein_coding	2/2	193/1193	153/936	51/311		chr11	TogoVar
OR7C1_chr19_14793515_14840185	14799631	CAGA CAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp1 HG02055.hp2 HG02280.hp1 others(5): Show HG01081.hp1 HG02055.hp2 HG02280.hp1 HG02572.hp2 HG02630.hp1 HG02976.hp1 HG03209.hp2 HG03471.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0005	a0007c0006t0005g0107 a0007c0006t0005g0120 a0007c0006t0005g0207 others(5): Show a0007c0006t0005g0107 a0007c0006t0005g0120 a0007c0006t0005g0207 a0007c0006t0005g0208 a0007c0006t0005g0209 a0007c0006t0005g0254 a0007c0006t0005g0261 a0007c0006t0005g0262	8	406	0.0197	-3	c.503 others(10): Show c.503_505delTCT	p.Phe others(6): Show p.Phe168del	OR7C1	ENSG00000127530.4	transcript	ENST00000641666.2	protein_coding	5/5	1239/2356	503/963	168/320		chr19	TogoVar
OR7D2_chr19_9173979_9193818	9186602	CCTCGGTG others(11): Show CCTCGGTGATGTACACTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04228.hp2 HG04228.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0048 a0006c0010t0048	a0006c0010t0048g0018 a0006c0010t0048g0018	1	396	0.0025	-18	c.822 others(25): Show c.822_839delCTCGGTGATGTACACTGT	p.Ser others(13): Show p.Ser275_Val280del	OR7D2	ENSG00000188000.6	transcript	ENST00000641288.2	protein_coding	3/3	1071/3286	822/939	274/312		chr19	TogoVar
OR8B12_chr11_124537722_124548654	124543152	CAGA CAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02818.hp2 HG02896.hp2 others(4): Show HG01884.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03540.hp2 NA18906.hp2 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0000 a0004c0004t0001g0000	7	454	0.0154	-3	c.500 others(10): Show c.500_502delTCT	p.Phe others(6): Show p.Phe167del	OR8B12	ENSG00000170953.4	transcript	ENST00000306842.3	protein_coding	1/1	502/933	500/933	167/310		chr11	TogoVar
OR8B2_chr11_124377394_124389499	124382877	GCTCCAGC others(41): Show GCTCCAGCCAATCCCATTATGTAAGCAGCAAAAGTGAGCATAGAACAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03831.hp2 HG03831.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0024 a0010c0013t0001g0024	1	442	0.0023	-48	c.419 others(55): Show c.419_466delTCTGTTCTATGCTCACTTTTGCTGCTTACATAATGGGA TTGGCTGGAG	p.Val others(13): Show p.Val140_Gly155del	OR8B2	ENSG00000284680.3	transcript	ENST00000641451.2	protein_coding	2/2	609/1093	419/942	140/313		chr11	TogoVar
OTOP1_chr4_4183726_4231929	4197221	GCGTTGC GCGTTGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00733.hp1 HG01106.hp1 others(28): Show HG00099.hp2 HG00733.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02109.hp2 HG02148.hp1 HG02273.hp2 HG02486.hp1 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03239.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG06807.hp1 NA19030.hp2 NA19043.hp2 NA20805.hp1	a0004 a0005 a0009 others(3): Show a0004 a0005 a0009 a0011 a0016 a0019	a0004c0006 a0005c0007 a0009c0012 others(4): Show a0004c0006 a0005c0007 a0009c0012 a0009c0018 a0011c0014 a0016c0016 a0019c0021	a0004c0006t0001 a0005c0007t0001 a0009c0012t0001 others(4): Show a0004c0006t0001 a0005c0007t0001 a0009c0012t0001 a0009c0018t0001 a0011c0014t0001 a0016c0016t0001 a0019c0021t0001	a0004c0006t0001g0007 a0004c0006t0001g0038 a0004c0006t0001g0059 others(24): Show a0004c0006t0001g0007 a0004c0006t0001g0038 a0004c0006t0001g0059 a0004c0006t0001g0125 a0004c0006t0001g0182 a0004c0006t0001g0240 a0004c0006t0001g0271 a0004c0006t0001g0272 a0004c0006t0001g0273 a0004c0006t0001g0294 a0005c0007t0001g0024 a0005c0007t0001g0032 a0005c0007t0001g0046 a0005c0007t0001g0343 a0005c0007t0001g0345 a0005c0007t0001g0346 a0005c0007t0001g0347 a0005c0007t0001g0351 a0009c0012t0001g0126 a0009c0012t0001g0138 a0009c0012t0001g0162 a0009c0012t0001g0195 a0009c0018t0001g0036 a0011c0014t0001g0361 a0011c0014t0001g0363 a0016c0016t0001g0034 a0019c0021t0001g0136	31	426	0.0728	-6	c.160 others(15): Show c.1607_1612delGCAACG	p.Gly others(13): Show p.Gly536_Asn537del	OTOP1	ENSG00000163982.6	transcript	ENST00000296358.5	protein_coding	5/6	1677/1981	1607/1839	536/612		chr4	TogoVar
OTULIN_chr5_14659718_14704850	14664886	CCGGCGCG others(14): Show CCGGCGCGGGAGGCGGCGGCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp2 HG02615.hp2 HG02647.hp2 others(12): Show HG02559.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03486.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0025 a0002c0002t0035 a0002c0002t0003 a0002c0002t0025 a0002c0002t0035	a0002c0002t0003g0007 a0002c0002t0003g0076 a0002c0002t0003g0077 others(3): Show a0002c0002t0003g0007 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0025g0006 a0002c0002t0035g0119	15	352	0.0426	-21	c.72_ others(26): Show c.72_92delGGCGGCGGCCACGGCGCGGGA	p.Glu others(11): Show p.Glu24_Arg30del	OTULIN	ENSG00000154124.6	transcript	ENST00000284274.5	protein_coding	1/7	180/7969	72/1059	24/352	INFO_REALIGN_3_PRIME	chr5	TogoVar
OVGP1_chr1_111409319_111432735	111414873	CCAGGGCT others(17): Show CCAGGGCTCACAGACTGATGACTCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02257.hp2 HG03098.hp2 NA18906.hp2 HG02257.hp2 HG03098.hp2 NA18906.hp2	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0001 a0016c0020t0001	a0016c0020t0001g0037 a0016c0020t0001g0065 a0016c0020t0001g0037 a0016c0020t0001g0065	3	422	0.0071	-24	c.160 others(33): Show c.1604_1627delTGAGTCATCAGTCTGTGAGCCCTG	p.Val others(13): Show p.Val535_Pro542del	OVGP1	ENSG00000085465.13	transcript	ENST00000369732.4	protein_coding	11/11	1641/2196	1604/2037	535/678		chr1	TogoVar
OVGP1_chr1_111409319_111432735	111414879	CTCACAGA others(17): Show CTCACAGACTGATGACTCACAGGGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG01099.hp2 HG01243.hp1 others(26): Show HG00140.hp2 HG01099.hp2 HG01243.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp2 HG02071.hp1 HG02109.hp2 HG02293.hp2 HG02486.hp1 HG02622.hp2 HG02809.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03540.hp2 NA18612.hp1 NA18945.hp2 NA18953.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19075.hp2 NA19077.hp2 NA20300.hp2	a0002 a0005 a0006 others(3): Show a0002 a0005 a0006 a0013 a0014 a0024	a0002c0002 a0002c0029 a0005c0005 others(6): Show a0002c0002 a0002c0029 a0005c0005 a0005c0035 a0006c0006 a0006c0028 a0013c0014 a0014c0023 a0024c0030	a0002c0002t0001 a0002c0029t0001 a0005c0005t0001 others(6): Show a0002c0002t0001 a0002c0029t0001 a0005c0005t0001 a0005c0035t0001 a0006c0006t0001 a0006c0028t0001 a0013c0014t0001 a0014c0023t0001 a0024c0030t0001	a0002c0002t0001g0071 a0002c0029t0001g0064 a0005c0005t0001g0009 others(11): Show a0002c0002t0001g0071 a0002c0029t0001g0064 a0005c0005t0001g0009 a0005c0005t0001g0012 a0005c0005t0001g0067 a0005c0035t0001g0091 a0006c0006t0001g0025 a0006c0006t0001g0086 a0006c0006t0001g0088 a0006c0028t0001g0063 a0013c0014t0001g0072 a0014c0023t0001g0044 a0014c0023t0001g0089 a0024c0030t0001g0073	29	421	0.0689	-24	c.159 others(33): Show c.1598_1621delCCCCTGTGAGTCATCAGTCTGTGA	p.Thr others(13): Show p.Thr533_Val540del	OVGP1	ENSG00000085465.13	transcript	ENST00000369732.4	protein_coding	11/11	1635/2196	1598/2037	533/678		chr1	TogoVar
OVGP1_chr1_111409319_111432735	111414879	CTCACAGA others(62): Show CTCACAGACTGATGACTCACAGGGGTCACAGACTGATGACCCACAGGGGT CAGGGTCTTTTCCCCAGGGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18964.hp1 NA18964.hp1	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0001	a0006c0026t0001g0083 a0006c0026t0001g0083	1	393	0.0025	-69	c.155 others(78): Show c.1553_1621delCCCCTGGGGAAAAGACCCTGACCCCTGTGGGTCATC AGTCTGTGACCCCTGTGAGTCATCAGTCTGTGA	p.Thr others(13): Show p.Thr518_Val540del	OVGP1	ENSG00000085465.13	transcript	ENST00000369732.4	protein_coding	11/11	1635/2196	1553/2037	518/678		chr1	TogoVar
OVGP1_chr1_111409319_111432735	111414887	CTGATGAC others(107): Show CTGATGACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCT TTTCCCCAGGGGTCACAGACTGATAACCCACAGAGGTCAGGGTCTTCTGT CCAGTGGTCACAGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA21309.hp1 NA21309.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0066 a0013c0014t0001g0066	1	422	0.0024	-114	c.150 others(9): Show c.1500_1613del	p.Ser others(13): Show p.Ser501_Gln538del	OVGP1	ENSG00000085465.13	transcript	ENST00000369732.4	protein_coding	11/11	1627/2196	1500/2037	500/678		chr1	TogoVar
OXCT2_chr1_39764523_39776348	39770501	CCCACCTC others(11): Show CCCACCTCCACGATCTCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00597.hp2 HG00609.hp2 HG00621.hp2 others(37): Show HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01099.hp1 HG02027.hp1 HG02071.hp2 HG02135.hp2 HG02559.hp2 HG02922.hp2 HG02965.hp2 HG03239.hp1 HG03516.hp1 HG03831.hp1 HG06807.hp1 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp2 NA18962.hp1 NA18967.hp2 NA18978.hp2 NA18987.hp1 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp2 NA19058.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0003 a0005 a0010 others(2): Show a0003 a0005 a0010 a0019 a0021	a0003c0004 a0003c0008 a0003c0012 others(5): Show a0003c0004 a0003c0008 a0003c0012 a0003c0013 a0005c0006 a0010c0014 a0019c0025 a0021c0016	a0003c0004t0004 a0003c0008t0001 a0003c0012t0004 others(5): Show a0003c0004t0004 a0003c0008t0001 a0003c0012t0004 a0003c0013t0004 a0005c0006t0004 a0010c0014t0001 a0019c0025t0004 a0021c0016t0001	a0003c0004t0004g0000 a0003c0008t0001g0000 a0003c0012t0004g0000 others(5): Show a0003c0004t0004g0000 a0003c0008t0001g0000 a0003c0012t0004g0000 a0003c0013t0004g0000 a0005c0006t0004g0000 a0010c0014t0001g0000 a0019c0025t0004g0000 a0021c0016t0001g0000	40	452	0.0885	-18	c.737 others(25): Show c.737_754delAAGAGATCGTGGAGGTGG	p.Glu others(13): Show p.Glu246_Val251del	OXCT2	ENSG00000198754.5	transcript	ENST00000327582.5	protein_coding	1/1	847/1826	737/1554	246/517		chr1	TogoVar
PALM3_chr19_14048367_14067076	14053768	TCGG TCGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp2 HG02258.hp1 HG02572.hp2 others(4): Show HG02109.hp2 HG02258.hp1 HG02572.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0008 a0012 a0008 a0012	a0008c0010 a0012c0015 a0008c0010 a0012c0015	a0008c0010t0002 a0012c0015t0002 a0008c0010t0002 a0012c0015t0002	a0008c0010t0002g0021 a0008c0010t0002g0073 a0012c0015t0002g0083 others(1): Show a0008c0010t0002g0021 a0008c0010t0002g0073 a0012c0015t0002g0083 a0012c0015t0002g0085	7	436	0.0161	-3	c.190 others(12): Show c.1901_1903delCCG	p.Ala others(6): Show p.Ala634del	PALM3	ENSG00000187867.10	transcript	ENST00000669674.2	protein_coding	7/7	1999/2401	1901/2067	634/688		chr19	TogoVar
PASD1_chrX_151558675_151681739	151672214	AGGAGCAG others(14): Show AGGAGCAGCAGCGGCAGCTGCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp1 HG01069.hp1 HG01071.hp1 others(1): Show HG00738.hp1 HG01069.hp1 HG01071.hp1 HG02602.hp1	a0003 a0003	a0003c0012 a0003c0018 a0003c0020 a0003c0012 a0003c0018 a0003c0020	a0003c0012t0002 a0003c0018t0001 a0003c0020t0003 a0003c0012t0002 a0003c0018t0001 a0003c0020t0003	a0003c0012t0002g0005 a0003c0012t0002g0024 a0003c0018t0001g0220 others(1): Show a0003c0012t0002g0005 a0003c0012t0002g0024 a0003c0018t0001g0220 a0003c0020t0003g0006	4	219	0.0183	-21	c.147 others(30): Show c.1478_1498delAGCGGCAGCTGCGGGAGCAGC	p.Gln others(13): Show p.Gln493_Gln499del	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	14/16	1670/3110	1478/2322	493/773	INFO_REALIGN_3_PRIME	chrX	TogoVar
PATL2_chr15_44660732_44716323	44675549	GTCTGGGT others(5): Show GTCTGGGTCCAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0058 a0007c0009t0002g0058	1	260	0.0038	-12	c.147 others(19): Show c.147_158delTCTGGACCCAGA	p.Leu others(11): Show p.Leu50_Asp53del	PATL2	ENSG00000229474.8	transcript	ENST00000682850.1	protein_coding	5/18	715/2410	147/1632	49/543		chr15	TogoVar
PBXIP1_chr1_154939080_154961099	154945869	AAAGTCAG others(5): Show AAAGTCAGGCCCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02132.hp1 HG02132.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0050 a0005c0007t0001g0050	1	286	0.0035	-12	c.179 others(21): Show c.1793_1804delAGGGCCTGACTT	p.Glu others(19): Show p.Glu598_Phe602delinsVal	PBXIP1	ENSG00000163346.17	transcript	ENST00000368463.8	protein_coding	10/11	1871/3207	1793/2196	598/731		chr1	TogoVar
PCARE_chr2_29056695_29079523	29070995	TGGG TGGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp1 HG02886.hp1 HG02895.hp1 others(6): Show HG02559.hp1 HG02886.hp1 HG02895.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0008 a0012 a0026 a0008 a0012 a0026	a0008c0009 a0012c0015 a0026c0057 a0008c0009 a0012c0015 a0026c0057	a0008c0009t0024 a0008c0009t0037 a0012c0015t0020 others(1): Show a0008c0009t0024 a0008c0009t0037 a0012c0015t0020 a0026c0057t0020	a0008c0009t0024g0032 a0008c0009t0037g0120 a0008c0009t0037g0121 others(2): Show a0008c0009t0024g0032 a0008c0009t0037g0120 a0008c0009t0037g0121 a0012c0015t0020g0033 a0026c0057t0020g0136	9	462	0.0195	-3	c.326 others(12): Show c.3264_3266delCCC	p.Pro others(7): Show p.Pro1089del	PCARE	ENSG00000179270.7	transcript	ENST00000331664.6	protein_coding	1/2	3528/7303	3264/3867	1088/1288		chr2	TogoVar
PCDH15_chr10_53816099_54806231	53822122	CGTT CGTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02486.hp1 HG02622.hp2 HG03486.hp1 others(3): Show HG02486.hp1 HG02622.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG04184.hp2	a0015 a0017 a0023 others(3): Show a0015 a0017 a0023 a0025 a0027 a0030	a0015c0027 a0017c0037 a0023c0031 others(3): Show a0015c0027 a0017c0037 a0023c0031 a0025c0025 a0027c0042 a0030c0047	a0015c0027t0001 a0017c0037t0004 a0023c0031t0001 others(3): Show a0015c0027t0001 a0017c0037t0004 a0023c0031t0001 a0025c0025t0001 a0027c0042t0004 a0030c0047t0007	a0015c0027t0001g0044 a0017c0037t0004g0007 a0023c0031t0001g0072 others(3): Show a0015c0027t0001g0044 a0017c0037t0004g0007 a0023c0031t0001g0072 a0025c0025t0001g0056 a0027c0042t0004g0060 a0030c0047t0007g0002	6	92	0.0652	-3	c.560 others(12): Show c.5601_5603delAAC	p.Thr others(7): Show p.Thr1868del	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	33/33	5938/6962	5601/5868	1867/1955		chr10	TogoVar
PCDH15_chr10_53816099_54806231	53822383	GGGAGGAG others(56): Show GGGAGGAGGACAAAAAAGAGAAAAAGGAGAAATGTCAGGAGGAGGAGCAA GAGGAGCAGGAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03130.hp2 HG03130.hp2	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0008 a0019c0026t0008	a0019c0026t0008g0043 a0019c0026t0008g0043	1	92	0.0109	-63	c.528 others(72): Show c.5280_5342delTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTC TCCTTTTTCTCTTTTTTGTCCTCCTCC	p.Ala others(15): Show p.Ala1761_Pro1781del	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	33/33	5677/6962	5280/5868	1760/1955		chr10	TogoVar
PCDHAC2_chr5_140961476_141017347	140966860	TTGCTGC TTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp2 HG02109.hp2 HG02486.hp1 others(7): Show HG01884.hp2 HG02109.hp2 HG02486.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03540.hp2 NA18906.hp1 NA19030.hp2 NA19240.hp2	a0002 a0002	a0002c0006 a0002c0007 a0002c0008 others(1): Show a0002c0006 a0002c0007 a0002c0008 a0002c0010	a0002c0006t0006 a0002c0007t0001 a0002c0008t0001 others(1): Show a0002c0006t0006 a0002c0007t0001 a0002c0008t0001 a0002c0010t0001	a0002c0006t0006g0020 a0002c0006t0006g0021 a0002c0006t0006g0022 others(6): Show a0002c0006t0006g0020 a0002c0006t0006g0021 a0002c0006t0006g0022 a0002c0007t0001g0006 a0002c0007t0001g0023 a0002c0008t0001g0168 a0002c0008t0001g0260 a0002c0008t0001g0273 a0002c0010t0001g0121	10	322	0.0311	-6	c.102 others(13): Show c.102_107delGCTGCT	p.Leu others(11): Show p.Leu35_Leu36del	PCDHAC2	ENSG00000243232.6	transcript	ENST00000289269.7	protein_coding	1/4	393/5725	102/3024	34/1007	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHB10_chr5_141187353_141200647	141194596	CAGGCCG CAGGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(225): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(6): Show a0002 a0003 a0005 a0010 a0011 a0012 a0016 a0020 a0022	a0002c0002 a0002c0023 a0002c0024 others(22): Show a0002c0002 a0002c0023 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0002c0028 a0002c0029 a0002c0030 a0003c0004 a0003c0007 a0003c0008 a0003c0010 a0003c0011 a0003c0013 a0003c0015 a0003c0032 a0003c0034 a0005c0005 a0010c0014 a0011c0031 a0012c0021 a0016c0033 a0020c0022 a0022c0044	a0002c0002t0001 a0002c0002t0006 a0002c0023t0001 others(25): Show a0002c0002t0001 a0002c0002t0006 a0002c0023t0001 a0002c0024t0001 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0002c0028t0001 a0002c0029t0001 a0002c0030t0001 a0003c0004t0001 a0003c0004t0007 a0003c0004t0008 a0003c0007t0001 a0003c0008t0001 a0003c0010t0001 a0003c0011t0001 a0003c0013t0004 a0003c0015t0001 a0003c0032t0001 a0003c0034t0001 a0005c0005t0001 a0010c0014t0001 a0011c0031t0005 a0012c0021t0001 a0016c0033t0001 a0020c0022t0001 a0022c0044t0010	a0002c0002t0001g0000 a0002c0002t0006g0000 a0002c0023t0001g0000 others(25): Show a0002c0002t0001g0000 a0002c0002t0006g0000 a0002c0023t0001g0000 a0002c0024t0001g0000 a0002c0025t0001g0000 a0002c0026t0001g0000 a0002c0027t0001g0000 a0002c0028t0001g0000 a0002c0029t0001g0000 a0002c0030t0001g0000 a0003c0004t0001g0000 a0003c0004t0007g0000 a0003c0004t0008g0000 a0003c0007t0001g0000 a0003c0008t0001g0000 a0003c0010t0001g0000 a0003c0011t0001g0000 a0003c0013t0004g0000 a0003c0015t0001g0000 a0003c0032t0001g0000 a0003c0034t0001g0000 a0005c0005t0001g0000 a0010c0014t0001g0000 a0011c0031t0005g0000 a0012c0021t0001g0000 a0016c0033t0001g0000 a0020c0022t0001g0000 a0022c0044t0010g0000	228	454	0.5022	-6	c.205 others(15): Show c.2052_2057delGGCCGA	p.Glu others(13): Show p.Glu684_Ala685del	PCDHB10	ENSG00000120324.9	transcript	ENST00000239446.6	protein_coding	1/1	2252/3295	2052/2403	684/800	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHB16_chr5_141177387_141191226	141183558	TCTC TCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp1 HG01071.hp1 HG03225.hp1 HG01069.hp1 HG01071.hp1 HG03225.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0000 a0009c0014t0002g0000	3	450	0.0067	-3	c.100 others(12): Show c.1002_1004delCCT	p.Leu others(6): Show p.Leu335del	PCDHB16	ENSG00000272674.4	transcript	ENST00000609684.3	protein_coding	1/1	1175/3840	1002/2331	334/776	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141387924	CTGCCAG CTGCCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp1 HG01192.hp1 HG01891.hp2 others(3): Show HG01081.hp1 HG01192.hp1 HG01891.hp2 HG02109.hp1 HG03491.hp2 HG03492.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0002 a0003c0005t0001g0044 a0003c0005t0001g0045 others(3): Show a0003c0005t0001g0002 a0003c0005t0001g0044 a0003c0005t0001g0045 a0003c0005t0001g0046 a0003c0005t0001g0047 a0003c0005t0001g0048	6	292	0.0205	-6	c.44_ others(11): Show c.44_49delCAGTGC	p.Pro others(11): Show p.Pro15_Val16del	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/4	231/4761	44/2772	15/923	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCNT_chr21_46319156_46450769	46334557	GTGGGATG others(32): Show GTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01516.hp2 HG01516.hp2	a0032 a0032	a0032c0089 a0032c0089	a0032c0089t0001 a0032c0089t0001	a0032c0089t0001g0243 a0032c0089t0001g0243	1	305	0.0033	-39	c.467 others(46): Show c.467_505delATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAG C	p.His others(13): Show p.His156_Gln168del	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	3/47	540/10526	467/10011	156/3336	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNX3_chr11_65610776_65642439	65636776	ACCTCAGC others(5): Show ACCTCAGCCTCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG02280.hp2 HG02572.hp1 others(4): Show HG02258.hp1 HG02280.hp2 HG02572.hp1 HG03041.hp2 HG03139.hp1 HG03491.hp2 HG06807.hp1	a0004 a0016 a0004 a0016	a0004c0007 a0016c0041 a0004c0007 a0016c0041	a0004c0007t0006 a0016c0041t0001 a0004c0007t0006 a0016c0041t0001	a0004c0007t0006g0012 a0004c0007t0006g0058 a0016c0041t0001g0002 a0004c0007t0006g0012 a0004c0007t0006g0058 a0016c0041t0001g0002	7	394	0.0178	-12	c.592 others(21): Show c.5924_5935delTCAGCCTCAGCC	p.Leu others(15): Show p.Leu1975_Ser1978del	PCNX3	ENSG00000197136.5	transcript	ENST00000355703.4	protein_coding	35/35	6460/7102	5924/6105	1975/2034	INFO_REALIGN_3_PRIME	chr11	TogoVar
PCSK6_chr15_101298933_101494707	101489563	GGCGCCCC others(2): Show GGCGCCCCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG01358.hp2 HG01884.hp2 others(29): Show HG01243.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0002 a0006 a0002 a0006	a0002c0008 a0002c0016 a0002c0017 others(10): Show a0002c0008 a0002c0016 a0002c0017 a0002c0018 a0002c0031 a0002c0032 a0002c0033 a0002c0034 a0002c0035 a0006c0020 a0006c0021 a0006c0029 a0006c0030	a0002c0008t0001 a0002c0008t0002 a0002c0016t0001 others(14): Show a0002c0008t0001 a0002c0008t0002 a0002c0016t0001 a0002c0017t0001 a0002c0017t0003 a0002c0018t0001 a0002c0018t0014 a0002c0031t0001 a0002c0032t0003 a0002c0033t0001 a0002c0034t0001 a0002c0035t0007 a0006c0020t0001 a0006c0021t0001 a0006c0021t0002 a0006c0029t0001 a0006c0030t0001	a0002c0008t0001g0015 a0002c0008t0001g0019 a0002c0008t0001g0021 others(29): Show a0002c0008t0001g0015 a0002c0008t0001g0019 a0002c0008t0001g0021 a0002c0008t0001g0023 a0002c0008t0001g0026 a0002c0008t0001g0030 a0002c0008t0002g0014 a0002c0008t0002g0016 a0002c0008t0002g0027 a0002c0008t0002g0028 a0002c0016t0001g0010 a0002c0016t0001g0011 a0002c0016t0001g0012 a0002c0016t0001g0013 a0002c0017t0001g0031 a0002c0017t0001g0033 a0002c0017t0003g0022 a0002c0017t0003g0024 a0002c0018t0001g0018 a0002c0018t0001g0025 a0002c0018t0014g0032 a0002c0031t0001g0008 a0002c0032t0003g0009 a0002c0033t0001g0029 a0002c0034t0001g0020 a0002c0035t0007g0017 a0006c0020t0001g0005 a0006c0020t0001g0007 a0006c0021t0001g0003 a0006c0021t0002g0004 a0006c0029t0001g0006 a0006c0030t0001g0002	32	318	0.1006	-9	c.99_ others(15): Show c.99_107delGGGGGGCGC	p.Gly others(11): Show p.Gly34_Ala36del	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/22	144/4272	99/2910	33/969		chr15	TogoVar
PDLIM7_chr5_177478394_177502604	177492556	CAGGCCCG others(5): Show CAGGCCCGGATCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18982.hp2 NA18982.hp2	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0001 a0008c0024t0001	a0008c0024t0001g0171 a0008c0024t0001g0171	1	438	0.0023	-12	c.206 others(19): Show c.206_217delAGATCCGGGCCT	p.Lys others(17): Show p.Lys69_Cys73delinsSer	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	3/13	305/1712	206/1374	69/457		chr5	TogoVar
PDXDC1_chr16_14970026_15043332	15035995	GTCTGTCT others(19): Show GTCTGTCTGCCCTTTCTGTAGGCCAGA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18969.hp1 NA18969.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0065 a0010c0013t0001g0065	1	278	0.0036	-26	c.210 others(38): Show c.2108-20_2113delTCTGTCTGCCCTTTCTGTAGGCCAGA	p.Gly others(19): Show p.Gly703_Lys705delinsGlu	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	23/23		2108/2367	703/788		chr16	TogoVar
PDZD7_chr10_101002679_101036129	101010546	GCGGCTGC others(17): Show GCGGCTGCGGCTACGGCTGCGGCTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18959.hp1 NA18959.hp1	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0002 a0017c0027t0002	a0017c0027t0002g0319 a0017c0027t0002g0319	1	430	0.0023	-24	c.231 others(33): Show c.2319_2342delTAGCCGCAGCCGTAGCCGCAGCCG	p.Ser others(13): Show p.Ser774_Arg781del	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	15/17	2564/4112	2319/3102	773/1033		chr10	TogoVar
PELP1_chr17_4664774_4709137	4672027	GGGAGGCA others(5): Show GGGAGGCAGAGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG02129.hp2 NA18955.hp2 others(6): Show HG00423.hp2 HG02129.hp2 NA18955.hp2 NA18979.hp1 NA18981.hp2 NA18990.hp1 NA18991.hp2 NA19083.hp2 NA19090.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0018 a0003c0005t0001g0113 a0003c0005t0001g0155 others(5): Show a0003c0005t0001g0018 a0003c0005t0001g0113 a0003c0005t0001g0155 a0003c0005t0001g0166 a0003c0005t0001g0172 a0003c0005t0001g0179 a0003c0005t0001g0185 a0003c0005t0001g0188	9	314	0.0287	-12	c.295 others(21): Show c.2952_2963delAGCTCTGCCTCC	p.Ala others(13): Show p.Ala985_Pro988del	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding	16/17	2989/5084	2952/3393	984/1130		chr17	TogoVar
PELP1_chr17_4664774_4709137	4672141	ATCC ATCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG02809.hp2 HG02976.hp2 others(2): Show HG02258.hp1 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2	a0004 a0004	a0004c0009 a0004c0017 a0004c0018 a0004c0009 a0004c0017 a0004c0018	a0004c0009t0007 a0004c0017t0007 a0004c0018t0007 a0004c0009t0007 a0004c0017t0007 a0004c0018t0007	a0004c0009t0007g0030 a0004c0009t0007g0031 a0004c0009t0007g0032 others(2): Show a0004c0009t0007g0030 a0004c0009t0007g0031 a0004c0009t0007g0032 a0004c0017t0007g0026 a0004c0018t0007g0027	5	314	0.0159	-3	c.284 others(12): Show c.2847_2849delGGA	p.Glu others(6): Show p.Glu949del	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding	16/17	2875/5084	2847/3393	949/1130		chr17	TogoVar
PENK_chr8_56435957_56451641	56441740	CTTCATGA others(14): Show CTTCATGAAGCCTCCATACCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp1 HG02056.hp2 HG02622.hp2 others(2): Show HG01109.hp1 HG02056.hp2 HG02622.hp2 HG03098.hp1 NA18906.hp2	a0002 a0002	a0002c0005 a0002c0015 a0002c0005 a0002c0015	a0002c0005t0001 a0002c0015t0001 a0002c0005t0001 a0002c0015t0001	a0002c0005t0001g0012 a0002c0015t0001g0055 a0002c0005t0001g0012 a0002c0015t0001g0055	5	434	0.0115	-21	c.315 others(28): Show c.315_335delAAGGTATGGAGGCTTCATGAA	p.Arg others(13): Show p.Arg106_Lys112del	PENK	ENSG00000181195.11	transcript	ENST00000451791.7	protein_coding	4/4	467/1251	315/804	105/267		chr8	TogoVar
PER3_chr1_7779291_7850177	7830003	CAGGATCG others(47): Show CAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCACACTG TCCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02257.hp2 HG02257.hp2	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0208 a0010c0023t0001g0208	1	408	0.0025	-54	c.305 others(63): Show c.3057_3110delAGGATCGCCTCCCATGAAGAATCCATCCCATCCTAC TGCCAGCACACTGTCCAT	p.Gly others(15): Show p.Gly1020_Met1037del	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	19/22	3367/6365	3057/3633	1019/1210		chr1	TogoVar
PERCC1_chr16_1426078_1439441	1432701	AGAG AGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(144): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0009	a0001c0001 a0001c0006 a0001c0011 others(4): Show a0001c0001 a0001c0006 a0001c0011 a0002c0004 a0004c0008 a0008c0007 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0030 a0001c0001t0051 a0001c0006t0001 a0001c0011t0001 a0002c0004t0001 a0002c0004t0049 a0004c0008t0001 a0008c0007t0001 a0009c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0002g0011 a0001c0001t0004g0002 a0001c0001t0006g0001 a0001c0001t0009g0022 a0001c0001t0011g0001 a0001c0001t0018g0011 a0001c0001t0019g0001 a0001c0001t0020g0001 a0001c0001t0027g0001 a0001c0001t0030g0001 a0001c0001t0051g0001 a0001c0006t0001g0001 a0001c0011t0001g0018 a0002c0004t0001g0001 a0002c0004t0001g0037 a0002c0004t0049g0001 a0004c0008t0001g0001 a0008c0007t0001g0041 a0009c0009t0001g0001	147	343	0.4286	-3	c.140 others(10): Show c.140_142delAGG	p.Glu others(5): Show p.Glu47del	PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding	2/2	218/1926	140/804	47/267	INFO_REALIGN_3_PRIME	chr16	TogoVar
PERCC1_chr16_1426078_1439441	1432701	AGAGGAG AGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG01516.hp1 others(4): Show HG00099.hp1 HG00099.hp2 HG01516.hp1 HG01517.hp2 HG03942.hp2 NA19240.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0003t0014	a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0013g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0013g0001 a0001c0003t0014g0007	7	203	0.0345	-6	c.137 others(13): Show c.137_142delAGGAGG	p.Glu others(11): Show p.Glu46_Glu47del	PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding	2/2	215/1926	137/804	46/267	INFO_REALIGN_3_PRIME	chr16	TogoVar
PERCC1_chr16_1426078_1439441	1432701	AGAGGAGG others(5): Show AGAGGAGGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00621.hp2 HG01257.hp2 HG01258.hp2 others(13): Show HG00621.hp2 HG01257.hp2 HG01258.hp2 HG02080.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG04204.hp1 NA18956.hp2 NA18966.hp2 NA19011.hp2 NA19012.hp1 NA19063.hp1 NA19065.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0037 a0001c0002t0034 a0001c0001t0002 a0001c0001t0037 a0001c0002t0034	a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0037g0025 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0037g0025 a0001c0002t0034g0003	16	212	0.0755	-12	c.131 others(19): Show c.131_142delAGGAGGAGGAGG	p.Glu others(11): Show p.Glu44_Glu47del	PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding	2/2	209/1926	131/804	44/267	INFO_REALIGN_3_PRIME	chr16	TogoVar
PERCC1_chr16_1426078_1439441	1432701	AGAGGAGG others(8): Show AGAGGAGGAGGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18998.hp2 NA19065.hp2 NA18998.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0013g0001 a0001c0001t0001g0001 a0001c0001t0013g0001	2	198	0.0101	-15	c.128 others(22): Show c.128_142delAGGAGGAGGAGGAGG	p.Glu others(11): Show p.Glu43_Glu47del	PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding	2/2	206/1926	128/804	43/267	INFO_REALIGN_3_PRIME	chr16	TogoVar

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