Joint Open Genome and Omics Platform (JoGo)

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Chr

Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
FLG_chr1_152297165_152330239	152306227	G G	A A	stop_gained stop_gained	HIGH	HG02970.hp1 HG03209.hp1 HG03471.hp1 HG02970.hp1 HG03209.hp1 HG03471.hp1	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0001 a0025c0033t0001	a0025c0033t0001g0024 a0025c0033t0001g0024	3	424	0.0071	0	c.865 others(4): Show c.8659C>T	p.Gln others(5): Show p.Gln2887*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8731/12793	8659/12186	2887/4061	chr1	TogoVar
FLG_chr1_152297165_152330239	152306864	T T	TTGTCCGT others(1942): Show TTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGT GGTGGGATCCATGTCTGTCTCCTGCACTTGATCTTGCCTGTTCATGGGAT GATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTG TCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGG ACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGA TGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCC CTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCC TGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCG GCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTC TCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTG ACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGA TGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCC CTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGAC CGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGG GATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTC AGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAG ACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGG GACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGA ATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCAC TGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTG GAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTGTCTCCTGCACT TGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCT GTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGA CCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAG CTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACC TCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTG GATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGC CTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCG ACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTT CTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCC CTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTA CCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGG TGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCT GTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCC CCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAG AGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGA CTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTG ACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTA CCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0002	1	424	0.0024	1949	c.802 others(1958): Show c.8021_8022insGGACAAGCTTCATCTGCAGTCAGAGACAGTGGACAC CGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGACATTCAGAAGA CTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGGGTCCCATCAGC AGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAACGTCTGGACAT TCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCTC CCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGGATCCCGCCATG AGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAGACGGTCAGGAC ACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCA CCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTCCCATCACAGCC ACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGCAGTCAGGATCC AGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCAGGAGACGGCTC CAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCATGCCGACATCT CTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGTCCAGGAGAAGC AGGCGCCAGGGATCCAGTGTGAGCCAGGACAGTGACAGTGAGGGACATTC AGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAACCATCATGGAT CTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCAGGTCCCATCAA GAAGACAGAGCTGGTCATGGGCACTCTGCAGACAGCTCCAGACAATCAGG CACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGCATCATCCCATG AACAGGCAAGATCAAGTGCAGGAGACAGACATGGATCCCACCACCAGCAG TCAGCAGACAGCTCCAGACACTCAGGCATTGGGCACGGACAAGCTTCATC TGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTG ACAATGAGGGACATTCAGAAGACTCAGACACACAGTCAGTGTCAGCCCAC GGACAGGCTGGGTCCCATCAGCAGAGCCACCAAGAGTCCGCACGTGGCCG GTCAGGGGAAACGTCTGGACATTCAGGATCTTTCCTCTACCAGGTGAGCA CTCATGAACAGTCTGAGTCCTCCCATGGATGGACGGGGCCCAGCACTAGA GGAAGACAAGGATCCCGCCATGAGCAGGCACAAGACAGCTCCAGGCACTC AGCATCCCAAGACGGTCAGGACACCATTCGTGGACACCCGGGGTCAAGCA GAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGA CACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGC CTCCCGTGGGCAGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATG AGGAACAATCAGGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAA GCTTCCACTCATGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACA ATCAGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGCCAGG ACAGTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCT GCTTCCAGAAACCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTC CAGACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTG CAGACAGCTCCAGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGT GGACAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGACAG ACATGGATCCCACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCA TTGGGCACGGACA	p.Ala others(6): Show p.Ala2675fs	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8093/12793	8021/12186	2674/4061	chr1	TogoVar
FLG_chr1_152297165_152330239	152307198	C C	T T	stop_gained stop_gained	HIGH	HG01255.hp2 HG01255.hp2	a0057 a0057	a0057c0143 a0057c0143	a0057c0143t0001 a0057c0143t0001	a0057c0143t0001g0074 a0057c0143t0001g0074	1	424	0.0024	0	c.768 others(4): Show c.7688G>A	p.Trp others(5): Show p.Trp2563*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	7760/12793	7688/12186	2563/4061	chr1	TogoVar
FLG_chr1_152297165_152330239	152307223	C C	A A	stop_gained stop_gained	HIGH	HG02970.hp1 HG03209.hp1 HG03471.hp1 HG02970.hp1 HG03209.hp1 HG03471.hp1	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0001 a0025c0033t0001	a0025c0033t0001g0024 a0025c0033t0001g0024	3	422	0.0071	0	c.766 others(4): Show c.7663G>T	p.Glu others(5): Show p.Glu2555*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	7735/12793	7663/12186	2555/4061	chr1	TogoVar
FLG_chr1_152297165_152330239	152307697	G G	A A	stop_gained stop_gained	HIGH	NA18947.hp2 NA18947.hp2	a0105 a0105	a0105c0080 a0105c0080	a0105c0080t0001 a0105c0080t0001	a0105c0080t0001g0164 a0105c0080t0001g0164	1	424	0.0024	0	c.718 others(4): Show c.7189C>T	p.Gln others(5): Show p.Gln2397*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	7261/12793	7189/12186	2397/4061	chr1	TogoVar
FLG_chr1_152297165_152330239	152309169	G G	T T	stop_gained stop_gained	HIGH	HG00558.hp2 HG02027.hp1 HG02976.hp1 others(2): Show HG00558.hp2 HG02027.hp1 HG02976.hp1 HG03225.hp1 NA19030.hp2	a0026 a0032 a0026 a0032	a0026c0034 a0032c0058 a0026c0034 a0032c0058	a0026c0034t0001 a0032c0058t0001 a0026c0034t0001 a0032c0058t0001	a0026c0034t0001g0067 a0026c0034t0001g0228 a0032c0058t0001g0036 a0026c0034t0001g0067 a0026c0034t0001g0228 a0032c0058t0001g0036	5	424	0.0118	0	c.571 others(4): Show c.5717C>A	p.Ser others(5): Show p.Ser1906*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	5789/12793	5717/12186	1906/4061	chr1	TogoVar
FLG_chr1_152297165_152330239	152309785	G G	A A	stop_gained stop_gained	HIGH	NA18959.hp2 NA18959.hp2	a0108 a0108	a0108c0156 a0108c0156	a0108c0156t0001 a0108c0156t0001	a0108c0156t0001g0098 a0108c0156t0001g0098	1	424	0.0024	0	c.510 others(4): Show c.5101C>T	p.Gln others(5): Show p.Gln1701*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	5173/12793	5101/12186	1701/4061	chr1	TogoVar
FLG_chr1_152297165_152330239	152313060	G G	T T	stop_gained stop_gained	HIGH	HG01433.hp2 HG01433.hp2	a0060 a0060	a0060c0118 a0060c0118	a0060c0118t0001 a0060c0118t0001	a0060c0118t0001g0145 a0060c0118t0001g0145	1	424	0.0024	0	c.182 others(4): Show c.1826C>A	p.Ser others(4): Show p.Ser609*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	1898/12793	1826/12186	609/4061	chr1	TogoVar
FLYWCH1_chr16_2906931_2956208	2930715	C C	T T	stop_gained stop_gained	HIGH	HG03139.hp2 HG03139.hp2	a0016 a0016	a0016c0047 a0016c0047	a0016c0047t0095 a0016c0047t0095	a0016c0047t0095g0275 a0016c0047t0095g0275	1	414	0.0024	0	c.631 others(3): Show c.631C>T	p.Arg others(4): Show p.Arg211*	FLYWCH1	ENSG00000059122.17	transcript	ENST00000253928.14	protein_coding	4/10	1042/5043	631/2151	211/716	chr16	TogoVar
FMO2_chr1_171180300_171217686	171208951	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(345): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.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 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 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.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0015 a0002c0002 others(14): Show a0001c0001 a0001c0015 a0002c0002 a0002c0019 a0003c0003 a0003c0016 a0004c0005 a0004c0008 a0004c0009 a0005c0004 a0006c0006 a0009c0011 a0010c0013 a0011c0014 a0012c0012 a0014c0020 a0015c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0015t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0014 a0003c0016t0002 a0004c0005t0003 a0004c0008t0002 a0004c0008t0022 a0004c0009t0004 a0005c0004t0003 a0005c0004t0008 a0006c0006t0006 a0006c0006t0011 a0006c0006t0016 a0009c0011t0002 a0010c0013t0001 a0011c0014t0006 a0012c0012t0002 a0014c0020t0001 a0015c0021t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(165): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0124 a0001c0001t0002g0077 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0059 a0001c0001t0010g0001 a0001c0001t0010g0013 a0001c0001t0013g0012 a0001c0001t0013g0048 a0001c0001t0013g0055 a0001c0001t0018g0066 a0001c0001t0019g0074 a0001c0001t0020g0076 a0001c0001t0021g0032 a0001c0015t0003g0049 a0001c0015t0003g0061 a0001c0015t0003g0068 a0002c0002t0004g0003 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0010 a0002c0002t0004g0026 a0002c0002t0004g0028 a0002c0002t0004g0030 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0114 a0002c0002t0004g0115 a0002c0002t0004g0118 a0002c0002t0004g0119 a0002c0002t0004g0123 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0132 a0002c0002t0004g0133 a0002c0002t0004g0135 a0002c0002t0004g0152 a0002c0002t0005g0003 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0110 a0002c0002t0005g0111 a0002c0002t0005g0121 a0002c0002t0005g0122 a0002c0002t0005g0125 a0002c0002t0005g0134 a0002c0002t0025g0028 a0002c0019t0004g0003 a0003c0003t0001g0157 a0003c0003t0002g0002 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0165 a0003c0003t0002g0166 a0003c0003t0014g0002 a0003c0016t0002g0019 a0003c0016t0002g0161 a0004c0005t0003g0004 a0004c0005t0003g0027 a0004c0005t0003g0038 a0004c0005t0003g0112 a0004c0005t0003g0113 a0004c0005t0003g0116 a0004c0005t0003g0117 a0004c0005t0003g0120 a0004c0005t0003g0127 a0004c0008t0002g0036 a0004c0008t0002g0093 a0004c0008t0002g0095 a0004c0008t0002g0097 a0004c0008t0002g0126 a0004c0008t0002g0145 a0004c0008t0022g0046 a0004c0009t0004g0016 a0004c0009t0004g0035 a0004c0009t0004g0094 a0004c0009t0004g0096 a0005c0004t0003g0011 a0005c0004t0003g0018 a0005c0004t0003g0041 a0005c0004t0003g0042 a0005c0004t0003g0043 a0005c0004t0003g0136 a0005c0004t0003g0137 a0005c0004t0003g0138 a0005c0004t0003g0139 a0005c0004t0003g0141 a0005c0004t0003g0142 a0005c0004t0003g0143 a0005c0004t0003g0144 a0005c0004t0003g0146 a0005c0004t0003g0148 a0005c0004t0003g0149 a0005c0004t0008g0017 a0005c0004t0008g0029 a0005c0004t0008g0140 a0005c0004t0008g0147 a0006c0006t0006g0007 a0006c0006t0006g0037 a0006c0006t0006g0098 a0006c0006t0006g0099 a0006c0006t0006g0100 a0006c0006t0006g0101 a0006c0006t0006g0102 a0006c0006t0006g0103 a0006c0006t0006g0104 a0006c0006t0006g0106 a0006c0006t0006g0107 a0006c0006t0006g0108 a0006c0006t0006g0109 a0006c0006t0011g0007 a0006c0006t0011g0105 a0006c0006t0016g0025 a0009c0011t0002g0023 a0009c0011t0002g0092 a0010c0013t0001g0021 a0011c0014t0006g0078 a0011c0014t0006g0082 a0011c0014t0006g0083 a0012c0012t0002g0024 a0014c0020t0001g0164 a0015c0021t0002g0002	348	364	0.9560	0	c.141 others(4): Show c.1414C>T	p.Gln others(4): Show p.Gln472*	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1480/5215	1414/1608	472/535	chr1	TogoVar
FMO4_chr1_171309183_171347084	171341815	C C	G G	stop_gained stop_gained	HIGH	NA19070.hp2 NA19070.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0040 a0012c0012t0001g0040	1	384	0.0026	0	c.165 others(4): Show c.1653C>G	p.Tyr others(4): Show p.Tyr551*	FMO4	ENSG00000076258.10	transcript	ENST00000367749.4	protein_coding	10/10	2034/2303	1653/1677	551/558	chr1	TogoVar
FNDC11_chr20_63549159_63561695	63556373	C C	A A	stop_gained stop_gained	HIGH	NA19060.hp1 NA19060.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0001 a0008c0011t0001g0001	1	414	0.0024	0	c.710 others(3): Show c.710C>A	p.Ser others(4): Show p.Ser237*	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding	2/2	768/1090	710/957	237/318	chr20	TogoVar
FOLR3_chr11_72130725_72144892	72139671	G G	A A	stop_gained stop_gained	HIGH	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0030 a0001c0015t0001g0030	1	382	0.0026	0	c.578 others(3): Show c.578G>A	p.Trp others(4): Show p.Trp193*	FOLR3	ENSG00000110203.10	transcript	ENST00000611028.3	protein_coding	5/5	628/849	578/738	193/245	chr11	TogoVar
FOSL2_chr2_28387858_28422317	28404299	A A	T T	stop_gained stop_gained	HIGH	NA19072.hp2 NA19072.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0110 a0005c0003t0001g0110	1	362	0.0028	0	c.295 others(3): Show c.295A>T	p.Arg others(3): Show p.Arg99*	FOSL2	ENSG00000075426.12	transcript	ENST00000264716.9	protein_coding	2/4	1158/6713	295/981	99/326	chr2	TogoVar
FOXD4L3_chr9_68297867_68310084	68303273	A A	T T	stop_gained stop_gained	HIGH	HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show HG00423.hp1 HG00544.hp2 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0001c0014 others(2): Show a0001c0002 a0001c0003 a0001c0014 a0001c0015 a0007c0011	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0014t0001 a0001c0015t0001 a0007c0011t0001	a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 others(3): Show a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 a0001c0014t0001g0000 a0001c0015t0001g0000 a0007c0011t0001g0000	84	174	0.4828	0	c.322 others(3): Show c.322A>T	p.Lys others(4): Show p.Lys108*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	407/2218	322/1254	108/417	chr9	TogoVar
FOXD4L3_chr9_68297867_68310084	68303286	C C	A A	stop_gained stop_gained	HIGH	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0000 a0001c0014t0001g0000	1	174	0.0057	0	c.335 others(3): Show c.335C>A	p.Ser others(4): Show p.Ser112*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	420/2218	335/1254	112/417	chr9	TogoVar
FOXD4L3_chr9_68297867_68310084	68303731	C C	A A	stop_gained stop_gained	HIGH	HG00621.hp2 HG01168.hp1 HG01169.hp1 others(7): Show HG00621.hp2 HG01168.hp1 HG01169.hp1 HG01517.hp2 HG02055.hp2 HG02630.hp1 HG03654.hp2 HG03704.hp2 HG04115.hp1 NA19001.hp1	a0004 a0006 a0004 a0006	a0004c0005 a0004c0007 a0006c0016 a0004c0005 a0004c0007 a0006c0016	a0004c0005t0001 a0004c0005t0005 a0004c0007t0001 others(1): Show a0004c0005t0001 a0004c0005t0005 a0004c0007t0001 a0006c0016t0001	a0004c0005t0001g0000 a0004c0005t0005g0000 a0004c0007t0001g0000 others(1): Show a0004c0005t0001g0000 a0004c0005t0005g0000 a0004c0007t0001g0000 a0006c0016t0001g0000	10	174	0.0575	0	c.780 others(3): Show c.780C>A	p.Tyr others(4): Show p.Tyr260*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	865/2218	780/1254	260/417	chr9	TogoVar
FOXD4L4_chr9_65732146_65743396	65738362	G G	A A	stop_gained stop_gained	HIGH	HG03688.hp2 HG03688.hp2	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0000 a0014c0015t0001g0000	1	206	0.0049	0	c.121 others(4): Show c.1217G>A	p.Trp others(4): Show p.Trp406*	FOXD4L4	ENSG00000184659.6	transcript	ENST00000377413.3	protein_coding	1/1	1217/1251	1217/1251	406/416	chr9	TogoVar
FOXD4L6_chr9_41121435_41133681	41127295	G G	T T	stop_gained stop_gained	HIGH	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0015 a0006c0009t0015	a0006c0009t0015g0000 a0006c0009t0015g0000	1	324	0.0031	0	c.108 others(4): Show c.1089C>A	p.Cys others(4): Show p.Cys363*	FOXD4L6	ENSG00000273514.2	transcript	ENST00000622588.2	protein_coding	1/1	1387/2247	1089/1254	363/417	chr9	TogoVar
FOXL2NB_chr3_138942217_138958990	138950388	C C	A A	stop_gained stop_gained	HIGH	HG03540.hp2 HG03540.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0031 a0006c0010t0031	a0006c0010t0031g0007 a0006c0010t0031g0007	1	394	0.0025	0	c.344 others(3): Show c.344C>A	p.Ser others(4): Show p.Ser115*	FOXL2NB	ENSG00000206262.9	transcript	ENST00000383165.4	protein_coding	3/3	492/4094	344/528	115/175	chr3	TogoVar
FPGT_chr1_74193242_74213702	74198327	C C	T T	stop_gained stop_gained	HIGH	NA18967.hp2 NA18990.hp2 NA18967.hp2 NA18990.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0001 a0002c0006t0001g0001	2	378	0.0053	0	c.49C others(2): Show c.49C>T	p.Gln others(3): Show p.Gln17*	FPGT	ENSG00000254685.8	transcript	ENST00000370898.9	protein_coding	1/4	86/4692	49/1785	17/594	chr1	TogoVar
FRAS1_chr4_78052323_78549269	78387456	C C	T T	stop_gained stop_gained	HIGH	HG00673.hp1 HG00673.hp1	a0033 a0033	a0033c0026 a0033c0026	a0033c0026t0003 a0033c0026t0003	a0033c0026t0003g0060 a0033c0026t0003g0060	1	176	0.0057	0	c.373 others(4): Show c.3730C>T	p.Arg others(5): Show p.Arg1244*	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	29/74	4417/15871	3730/12039	1244/4012	chr4	TogoVar
FRG2_chr4_190019367_190032256	190025860	G G	A A	stop_gained stop_gained	HIGH	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0012 a0005c0005t0012	a0005c0005t0012g0019 a0005c0005t0012g0019	1	400	0.0025	0	c.541 others(3): Show c.541C>T	p.Arg others(4): Show p.Arg181*	FRG2	ENSG00000205097.7	transcript	ENST00000504750.6	protein_coding	4/4	593/2086	541/840	181/279	chr4	TogoVar
FSCB_chr14_44499149_44512283	44504951	A A	AGGGGCCT others(30): Show AGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	220	0.0045	37	c.203 others(46): Show c.2036_2037insCCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCC C	p.Ala others(5): Show p.Ala680fs	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2332/3135	2036/2478	679/825	chr14	TogoVar
FSCB_chr14_44499149_44512283	44504985	G G	GAGGGGGC others(30): Show GAGGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	444	0.0023	37	c.200 others(46): Show c.2002_2003insGCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCC T	p.Ala others(5): Show p.Ala668fs	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2298/3135	2002/2478	668/825	chr14	TogoVar
FSCB_chr14_44499149_44512283	44506525	G G	A A	stop_gained stop_gained	HIGH	HG02280.hp2 HG02280.hp2	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0000 a0010c0023t0001g0000	1	444	0.0023	0	c.463 others(3): Show c.463C>T	p.Gln others(4): Show p.Gln155*	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	759/3135	463/2478	155/825	chr14	TogoVar
FSCB_chr14_44499149_44512283	44506568	C C	T T	stop_gained stop_gained	HIGH	HG03098.hp1 HG06807.hp1 HG03098.hp1 HG06807.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0005 a0010c0014t0005	a0010c0014t0005g0000 a0010c0014t0005g0000	2	444	0.0045	0	c.420 others(3): Show c.420G>A	p.Trp others(4): Show p.Trp140*	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	716/3135	420/2478	140/825	chr14	TogoVar
FSCN3_chr7_127588736_127607144	127599527	C C	T T	stop_gained stop_gained	HIGH	NA18747.hp1 NA19009.hp2 NA18747.hp1 NA19009.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0001 a0008c0009t0001g0045 a0008c0009t0001g0001 a0008c0009t0001g0045	2	420	0.0048	0	c.126 others(4): Show c.1267C>T	p.Arg others(4): Show p.Arg423*	FSCN3	ENSG00000106328.10	transcript	ENST00000265825.6	protein_coding	5/7	1385/2137	1267/1497	423/498	chr7	TogoVar
FSD2_chr15_82750362_82811069	82782857	A A	AAGTATCT others(13): Show AAGTATCTAGGTTTTCTCCAC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19081.hp2 NA19081.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0004 a0009c0010t0004	a0009c0010t0004g0350 a0009c0010t0004g0350	1	382	0.0026	20	c.884 others(27): Show c.884_903dupGTGGAGAAAACCTAGATACT	p.Cys others(5): Show p.Cys302fs	FSD2	ENSG00000186628.12	transcript	ENST00000334574.12	protein_coding	4/13	1085/6418	903/2250	301/749	chr15	TogoVar
FSIP2_chr2_185733804_185838290	185801624	C C	G G	stop_gained stop_gained	HIGH	HG02055.hp2 HG02055.hp2	a0038 a0038	a0038c0070 a0038c0070	a0038c0070t0001 a0038c0070t0001	a0038c0070t0001g0271 a0038c0070t0001g0271	1	368	0.0027	0	c.123 others(5): Show c.12318C>G	p.Tyr others(5): Show p.Tyr4106*	FSIP2	ENSG00000188738.16	transcript	ENST00000424728.6	protein_coding	17/23	12409/20879	12318/20724	4106/6907	chr2	TogoVar
FSTL3_chr19_671392_688385	681489	C C	A A	stop_gained stop_gained	HIGH	NA19082.hp2 NA19082.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0024 a0005c0004t0004g0024	1	432	0.0023	0	c.662 others(3): Show c.662C>A	p.Ser others(4): Show p.Ser221*	FSTL3	ENSG00000070404.10	transcript	ENST00000166139.9	protein_coding	4/5	694/2501	662/792	221/263	chr19	TogoVar
FTCD_chr21_46131779_46160579	46145471	C C	CGAAGCCT others(40): Show CGAAGCCTCGCGGAAGGGCGGGATCAGGCGCCGCATCGTCGTGTCCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG04184.hp2 HG04184.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0002 a0016c0022t0002	a0016c0022t0002g0073 a0016c0022t0002g0073	1	228	0.0044	47	c.115 others(56): Show c.1159_1205dupCTGGACACGACGATGCGGCGCCTGATCCCGCCCTTC CGCGAGGCTTC	p.Ala others(5): Show p.Ala403fs	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/14	1261/1890	1205/1626	402/541	chr21	TogoVar
FTHL17_chrX_31066233_31077041	31071512	C C	A A	stop_gained stop_gained	HIGH	HG00408.hp2 HG00544.hp2 HG02165.hp2 others(34): Show HG00408.hp2 HG00544.hp2 HG02165.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03927.hp2 HG04184.hp2 NA18612.hp1 NA18939.hp1 NA18943.hp1 NA18952.hp1 NA18964.hp1 NA18965.hp1 NA18975.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18992.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19006.hp1 NA19010.hp1 NA19054.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0002c0004 a0004c0007 others(1): Show a0002c0003 a0002c0004 a0004c0007 a0006c0006	a0002c0003t0001 a0002c0004t0001 a0004c0007t0001 others(1): Show a0002c0003t0001 a0002c0004t0001 a0004c0007t0001 a0006c0006t0001	a0002c0003t0001g0000 a0002c0004t0001g0000 a0004c0007t0001g0000 others(1): Show a0002c0003t0001g0000 a0002c0004t0001g0000 a0004c0007t0001g0000 a0006c0006t0001g0000	37	334	0.1108	0	c.442 others(3): Show c.442G>T	p.Glu others(4): Show p.Glu148*	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding	1/1	530/809	442/552	148/183	chrX	TogoVar
FTHL17_chrX_31066233_31077041	31071864	G G	T T	stop_gained stop_gained	HIGH	HG04184.hp2 HG04184.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0000 a0006c0006t0001g0000	1	334	0.0030	0	c.90C others(2): Show c.90C>A	p.Tyr others(3): Show p.Tyr30*	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding	1/1	178/809	90/552	30/183	chrX	TogoVar
FUT2_chr19_48690971_48710951	48703417	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0032	91	392	0.2321	0	c.461 others(3): Show c.461G>A	p.Trp others(4): Show p.Trp154*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	582/3116	461/1032	154/343	chr19	TogoVar
FUT2_chr19_48690971_48710951	48703560	C C	T T	stop_gained stop_gained	HIGH	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	392	0.0026	0	c.604 others(3): Show c.604C>T	p.Arg others(4): Show p.Arg202*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	725/3116	604/1032	202/343	chr19	TogoVar
FUT2_chr19_48690971_48710951	48703617	C C	T T	stop_gained stop_gained	HIGH	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	392	0.0026	0	c.661 others(3): Show c.661C>T	p.Arg others(4): Show p.Arg221*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	782/3116	661/1032	221/343	chr19	TogoVar
FUT2_chr19_48690971_48710951	48703838	G G	A A	stop_gained stop_gained	HIGH	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	392	0.0026	0	c.882 others(3): Show c.882G>A	p.Trp others(4): Show p.Trp294*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	1003/3116	882/1032	294/343	chr19	TogoVar
FUT6_chr19_5825408_5844702	5831623	G G	T T	stop_gained stop_gained	HIGH	HG01261.hp2 HG02083.hp2 HG02523.hp2 others(14): Show HG01261.hp2 HG02083.hp2 HG02523.hp2 HG02602.hp2 HG03239.hp1 HG03239.hp2 HG03704.hp2 HG03831.hp2 HG04199.hp2 NA18612.hp1 NA18945.hp1 NA18971.hp1 NA18972.hp2 NA19011.hp1 NA19060.hp1 NA19079.hp2 NA19087.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0003 a0006c0005t0008 others(4): Show a0006c0005t0001 a0006c0005t0003 a0006c0005t0008 a0006c0005t0029 a0006c0005t0038 a0006c0005t0053 a0006c0005t0054	a0006c0005t0001g0015 a0006c0005t0001g0087 a0006c0005t0001g0116 others(8): Show a0006c0005t0001g0015 a0006c0005t0001g0087 a0006c0005t0001g0116 a0006c0005t0003g0041 a0006c0005t0003g0072 a0006c0005t0008g0081 a0006c0005t0029g0080 a0006c0005t0029g0085 a0006c0005t0038g0066 a0006c0005t0053g0079 a0006c0005t0054g0082	17	434	0.0392	0	c.945 others(3): Show c.945C>A	p.Tyr others(4): Show p.Tyr315*	FUT6	ENSG00000156413.15	transcript	ENST00000318336.10	protein_coding	3/3	2111/3326	945/1080	315/359	chr19	TogoVar
FUZ_chr19_49801866_49818292	49807343	C C	CTCATCTT others(3): Show CTCATCTTCTG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18978.hp2 NA18978.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0080 a0010c0012t0001g0080	1	408	0.0025	10	c.105 others(19): Show c.1055_1064dupCAGAAGATGA	p.Glu others(5): Show p.Glu355fs	FUZ	ENSG00000010361.14	transcript	ENST00000313777.9	protein_coding	11/11	1250/1728	1064/1257	355/418	chr19	TogoVar
FXR2_chr17_7586230_7619897	7614454	T T	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0057 a0003c0007t0002g0057	1	424	0.0024	0	c.79A others(2): Show c.79A>T	p.Lys others(3): Show p.Lys27*	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/17	444/2987	79/2022	27/673	chr17	TogoVar
FZD3_chr8_28489212_28579258	28562904	C C	T T	stop_gained stop_gained	HIGH	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0092 a0002c0007t0092	a0002c0007t0092g0160 a0002c0007t0092g0160	1	326	0.0031	0	c.189 others(4): Show c.1894C>T	p.Gln others(4): Show p.Gln632*	FZD3	ENSG00000104290.11	transcript	ENST00000240093.8	protein_coding	8/8	2416/13770	1894/2001	632/666	chr8	TogoVar
FZD7_chr2_202028855_202043441	202035079	G G	GGGCCCCC others(29): Show GGGCCCCCGGGGGGGCAGGGGACCCCCTGACTAGCGC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0000 a0004c0009t0001g0000	1	418	0.0024	36	c.432 others(43): Show c.432_433insGGCCCCCGGGGGGGCAGGGGACCCCCTGACTAGCGC	p.Glu others(49): Show p.Glu144_Arg145insGlyProArgGlyGlyArgGlyProProAspTe rArg	FZD7	ENSG00000155760.3	transcript	ENST00000286201.3	protein_coding	1/1	1226/4587	433/1725	145/574	chr2	TogoVar
GAB4_chr22_16956936_17013222	16988159	C C	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00544.hp2 HG00558.hp2 others(144): Show HG00280.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp1 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0008 a0002c0013 others(5): Show a0002c0002 a0002c0008 a0002c0013 a0002c0014 a0002c0017 a0002c0021 a0002c0022 a0005c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0001 a0002c0013t0005 a0002c0014t0001 a0002c0014t0003 a0002c0017t0001 a0002c0021t0001 a0002c0022t0001 a0005c0011t0001	a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0210 a0002c0002t0002g0171 a0002c0002t0002g0176 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0159 a0002c0002t0004g0184 a0002c0002t0004g0202 a0002c0002t0007g0040 a0002c0002t0007g0065 a0002c0002t0007g0168 a0002c0008t0001g0045 a0002c0008t0001g0084 a0002c0008t0001g0085 a0002c0013t0005g0067 a0002c0014t0001g0160 a0002c0014t0003g0167 a0002c0017t0001g0076 a0002c0021t0001g0177 a0002c0022t0001g0179 a0005c0011t0001g0077 a0005c0011t0001g0078	147	428	0.3435	0	c.487 others(3): Show c.487G>T	p.Gly others(4): Show p.Gly163*	GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	3/10	595/2630	487/1725	163/574	chr22	TogoVar
GABPB2_chr1_151065761_151130542	151118095	C C	T T	stop_gained stop_gained	HIGH	NA18980.hp1 NA18980.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0247 a0007c0010t0001g0247	1	262	0.0038	0	c.118 others(4): Show c.1186C>T	p.Gln others(4): Show p.Gln396*	GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding	9/9	1360/8807	1186/1347	396/448	chr1	TogoVar
GABRR3_chr3_97980102_98040315	98007903	A A	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00280.hp2 HG00323.hp2 HG00642.hp1 others(43): Show HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 NA18906.hp2 NA18942.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0020 a0002c0002t0026 a0002c0007t0002	a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 others(40): Show a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0042 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0003g0029 a0002c0002t0003g0044 a0002c0002t0003g0051 a0002c0002t0003g0057 a0002c0002t0003g0060 a0002c0002t0003g0166 a0002c0002t0006g0039 a0002c0002t0006g0059 a0002c0002t0007g0033 a0002c0002t0007g0035 a0002c0002t0007g0168 a0002c0002t0008g0226 a0002c0002t0008g0269 a0002c0002t0008g0272 a0002c0002t0008g0273 a0002c0002t0013g0037 a0002c0002t0013g0167 a0002c0002t0014g0046 a0002c0002t0014g0054 a0002c0002t0015g0330 a0002c0002t0018g0021 a0002c0002t0020g0061 a0002c0002t0026g0341 a0002c0007t0002g0065	46	380	0.1211	0	c.615 others(3): Show c.615T>A	p.Tyr others(4): Show p.Tyr205*	GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding	7/10	743/3113	615/1404	205/467	chr3	TogoVar
GAGE1_chrX_49594020_49613538	49600742	G G	T T	stop_gained stop_gained	HIGH	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0076 a0005c0011t0001g0076	1	309	0.0032	0	c.103 others(3): Show c.103G>T	p.Glu others(3): Show p.Glu35*	GAGE1	ENSG00000205777.19	transcript	ENST00000381700.11	protein_coding	3/5	219/2993	103/354	35/117	chrX	TogoVar
GAGE1_chrX_49594020_49613538	49600811	G G	T T	stop_gained stop_gained	HIGH	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0075 a0005c0010t0001g0075	1	309	0.0032	0	c.172 others(3): Show c.172G>T	p.Glu others(3): Show p.Glu58*	GAGE1	ENSG00000205777.19	transcript	ENST00000381700.11	protein_coding	3/5	288/2993	172/354	58/117	chrX	TogoVar
GAL3ST3_chr11_66035765_66054161	66043233	G G	T T	stop_gained stop_gained	HIGH	HG02622.hp2 HG02622.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0001 a0006c0021t0001	a0006c0021t0001g0075 a0006c0021t0001g0075	1	392	0.0026	0	c.570 others(3): Show c.570C>A	p.Tyr others(4): Show p.Tyr190*	GAL3ST3	ENSG00000175229.7	transcript	ENST00000312006.5	protein_coding	3/3	833/3301	570/1296	190/431	chr11	TogoVar
GAL3ST4_chr7_100154244_100173617	100160311	G G	A A	stop_gained stop_gained	HIGH	HG03486.hp1 HG03486.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0003 a0008c0012t0003	a0008c0012t0003g0155 a0008c0012t0003g0155	1	400	0.0025	0	c.107 others(4): Show c.1078C>T	p.Arg others(4): Show p.Arg360*	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding	4/4	1338/2405	1078/1461	360/486	chr7	TogoVar

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