Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
OGFR_chr20_62799835_62819000	62813391	TGAGCCAG others(53): Show TGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCGGCAGGAC CTGCAGGGGAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01515.hp1 HG03225.hp1 NA18986.hp1 HG01515.hp1 HG03225.hp1 NA18986.hp1	a0024 a0031 a0035 a0024 a0031 a0035	a0024c0048 a0031c0033 a0035c0040 a0024c0048 a0031c0033 a0035c0040	a0024c0048t0002 a0031c0033t0002 a0035c0040t0001 a0024c0048t0002 a0031c0033t0002 a0035c0040t0001	a0024c0048t0002g0091 a0031c0033t0002g0025 a0035c0040t0001g0006 a0024c0048t0002g0091 a0031c0033t0002g0025 a0035c0040t0001g0006	3	422	0.0071	-60	c.187 others(69): Show c.1873_1932delCGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAG AGCCCATCGGAGACCCCAGGCCCC	p.Arg others(13): Show p.Arg625_Pro644del	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	7/7	1898/2410	1873/2034	625/677		INFO_REALIGN_3_PRIME	chr20	TogoVar
OGFR_chr20_62799835_62819000	62813488	CGCCCGGC others(53): Show CGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGAC CCCAGGCCCCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02622.hp1 HG02970.hp1 HG03209.hp1 others(2): Show HG02622.hp1 HG02970.hp1 HG03209.hp1 HG03486.hp1 NA18522.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0007 a0009c0013t0002 a0009c0013t0007	a0009c0013t0002g0016 a0009c0013t0007g0016 a0009c0013t0002g0016 a0009c0013t0007g0016	5	422	0.0119	-60	c.188 others(69): Show c.1888_1947delGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACC CCAGGCCCCAGCCCGGCAGGACCT	p.Ala others(13): Show p.Ala630_Pro649del	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	7/7	1913/2410	1888/2034	630/677		INFO_REALIGN_3_PRIME	chr20	TogoVar
OGFR_chr20_62799835_62819000	62813511	CGAGCCAG others(53): Show CGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGAC CTACAAGGGAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA21309.hp1 NA21309.hp1	a0029 a0029	a0029c0054 a0029c0054	a0029c0054t0002 a0029c0054t0002	a0029c0054t0002g0004 a0029c0054t0002g0004	1	422	0.0024	-60	c.190 others(69): Show c.1906_1965delGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCA GGACCTACAAGGGATGAGCCAGCC	p.Glu others(13): Show p.Glu636_Ala655del	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	7/7	1931/2410	1906/2034	636/677		INFO_REALIGN_3_PRIME	chr20	TogoVar
OLFM1_chr9_135082668_135126180	135118398	GGAGTGCT others(53): Show GGAGTGCTCGCTGTGTCTTTGGAGTGCTCGCTGTGTCTTTGGAGTGCTCA CCAGGTCTTTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02451.hp1 HG02965.hp2 others(1): Show HG00735.hp2 HG02451.hp1 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0021 a0001c0001t0015 a0001c0002t0021	a0001c0001t0015g0186 a0001c0001t0015g0188 a0001c0001t0015g0193 others(1): Show a0001c0001t0015g0186 a0001c0001t0015g0188 a0001c0001t0015g0193 a0001c0002t0021g0137	4	360	0.0111	-60	c.784 others(77): Show c.784-1098_784-1039delCGCTGTGTCTTTGGAGTGCTCGCTGTGT CTTTGGAGTGCTCACCAGGTCTTTAGAGTGCT		OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
OOSP2_chr11_60035409_60053044	60050850	GATAGCTC others(53): Show GATAGCTCTTATTATTTTGAGATACGTCCCATCAATACCTAATTTATTGA GAGATTTTAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	198	0.0051	-60	c.37 others(71): Show c.3778_*3837delATAGCTCTTATTATTTTGAGATACGTCCCATCAA TACCTAATTTATTGAGAGATTTTAGC		OOSP2	ENSG00000149507.7	transcript	ENST00000278855.7	protein_coding					2807		chr11	TogoVar
OPCML_chr11_132409981_133537501	133015365	GAGGAATG others(53): Show GAGGAATGAAGGAAGGAAGGAAGGAAGGAATGAAGGAAGGAAGGAAGGAA GGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG01496.hp1 others(2): Show HG01109.hp1 HG01192.hp1 HG01496.hp1 HG02630.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0047 a0001c0001t0002g0032 a0001c0001t0003g0050 others(2): Show a0001c0001t0001g0047 a0001c0001t0002g0032 a0001c0001t0003g0050 a0001c0001t0005g0020 a0001c0001t0008g0010	5	68	0.0735	-60	c.62- others(77): Show c.62-72415_62-72356delTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCATTCCTTCCTTCCTTCCTTCCTTCATTCCT		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133140988	AGAAGAAG others(53): Show AGAAGAAGAAGACGACGACGACGACGACGACGACGACGACGACGACGACG ACGACGACGAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01978.hp1 HG02145.hp1 HG01496.hp2 HG01978.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0030 a0001c0001t0002 a0001c0001t0005 a0001c0001t0030	a0001c0001t0002g0019 a0001c0001t0005g0023 a0001c0001t0030g0067 a0001c0001t0002g0019 a0001c0001t0005g0023 a0001c0001t0030g0067	3	68	0.0441	-60	c.62- others(79): Show c.62-198038_62-197979delGTCGTCGTCGTCGTCGTCGTCGTCGT CGTCGTCGTCGTCGTCGTCGTCGTCTTCTTCTTC		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133458275	CACACATA others(53): Show CACACATATATACACGTGTGTGTATATATATACACATATATACACGTGTG TGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp1 HG01192.hp1 others(5): Show HG01071.hp2 HG01109.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp1 HG01516.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024	a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0032 others(5): Show a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0005g0020 a0001c0001t0008g0010 a0001c0001t0015g0043 a0001c0001t0016g0012 a0001c0001t0024g0021	8	68	0.1177	-60	c.61+ others(77): Show c.61+73929_61+73988delATATATATACACACACGTGTATATATGT GTATATATATACACACACGTGTATATATGTGT		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OR1A1_chr17_3202667_3223896	3221662	TTATATAA others(53): Show TTATATAATATATTATATATTATTATATATTATATAATACATTATATATT ATTATATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0030 a0001c0008t0030	a0001c0008t0030g0035 a0001c0008t0030g0035	1	434	0.0023	-60	c.51 others(71): Show c.5113_*5172delTATATAATATATTATATATTATTATATATTATAT AATACATTATATATTATTATATATTA		OR1A1	ENSG00000172146.4	transcript	ENST00000641732.2	protein_coding					2767		chr17	TogoVar
OR2M3_chr1_248192265_248217925	248213407	ATATATAT others(53): Show ATATATATATATATATATGTATATATATATATGTATATATATATATGTAT ATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 NA20752.hp2 NA20905.hp1 HG06807.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0004 a0001c0002t0002g0002 a0001c0001t0004g0004 a0001c0002t0002g0002	3	410	0.0073	-60	c.94 others(71): Show c.9402_*9461delTATATATATATATATATGTATATATATATATGTA TATATATATATGTATATATATATATG		OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding					483		chr1	TogoVar
OR2V2_chr5_181142586_181164285	181160698	TTGGGGGT others(53): Show TTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACG AGCATCGTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0103 a0002c0002t0103	a0002c0002t0103g0067 a0002c0002t0103g0067	1	424	0.0024	-60	c.48 others(71): Show c.4809_*4868delTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGG GGTGGGGCCAGGACGAGCATCGTCAC		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1414		chr5	TogoVar
OR52K1_chr11_4477646_4498497	4487486	AGATTCTA others(53): Show AGATTCTAAACATTTTCCAAATGTTATGGAAGGAAGTTAGTTTTCAGTTT GGTTATGCTGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18522.hp1 HG02145.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0045 a0003c0003t0040 a0001c0001t0045 a0003c0003t0040	a0001c0001t0045g0065 a0003c0003t0040g0037 a0001c0001t0045g0065 a0003c0003t0040g0037	2	404	0.0050	-60	c.-32 others(79): Show c.-328-1086_-328-1027delGATTCTAAACATTTTCCAAATGTTAT GGAAGGAAGTTAGTTTTCAGTTTGGTTATGCTGG		OR52K1	ENSG00000196778.4	transcript	ENST00000641528.1	protein_coding	1/1						chr11	TogoVar
OR6J1_chr14_22625929_22649352	22636225	GCCCTCTC others(53): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA20805.hp1 NA20905.hp2 HG00544.hp2 NA20805.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0178 a0002c0002t0002g0248 a0002c0002t0002g0251 a0002c0002t0002g0178 a0002c0002t0002g0248 a0002c0002t0002g0251	3	362	0.0083	-60	c.-27 others(77): Show c.-27-1447_-27-1388delAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1						chr14	TogoVar
OR9A4_chr7_141911399_141925625	141913801	AAAATAAA others(53): Show AAAATAAAATAAAATAAAATAAAATAAAATAAGATAAAATAAAAATAAAA TAAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(128): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02300.hp2 HG02698.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18976.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19001.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19076.hp2 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0003c0005 a0004c0011 others(1): Show a0001c0001 a0003c0005 a0004c0011 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0003c0005t0001 a0004c0011t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0011g0001 a0003c0005t0001g0001 a0004c0011t0001g0012 a0007c0010t0001g0001	131	446	0.2937	-60	c.-28 others(71): Show c.-2865_-2806delAAATAAAATAAAATAAAATAAAATAAAATAAGAT AAAATAAAAATAAAATAAAATAAAAT		OR9A4	ENSG00000258083.2	transcript	ENST00000641559.1	protein_coding					2597		chr7	TogoVar
OSBPL5_chr11_3082107_3170310	3103799	TGCAGCCC others(53): Show TGCAGCCCTCTTCCTGCCTGCGCAGCCCCCTTCCAGCCTCTGCAGCCCCT TTCCAGTCTGC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0075 a0002c0003t0003g0075	1	326	0.0031	-60	c.124 others(77): Show c.1244+334_1244+393delGCAGACTGGAAAGGGGCTGCAGAGGCTG GAAGGGGGCTGCGCAGGCAGGAAGAGGGCTGC		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21						chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3103828	CTTCCAGC others(53): Show CTTCCAGCCTCTGCAGCCCCTTTCCAGTCTGCGCAGCCCCCTTCCTGCCT CTGTAGCCCCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00621.hp1 others(19): Show HG00140.hp2 HG00280.hp2 HG00621.hp1 HG00733.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01993.hp1 HG01993.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG03225.hp1 HG03704.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014	a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 others(5): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0002t0013 a0001c0002t0036 a0001c0002t0040 a0001c0005t0004 a0001c0014t0004	a0001c0001t0002g0087 a0001c0001t0002g0273 a0001c0002t0002g0093 others(19): Show a0001c0001t0002g0087 a0001c0001t0002g0273 a0001c0002t0002g0093 a0001c0002t0002g0113 a0001c0002t0002g0191 a0001c0002t0004g0015 a0001c0002t0004g0018 a0001c0002t0004g0030 a0001c0002t0004g0063 a0001c0002t0004g0088 a0001c0002t0004g0089 a0001c0002t0004g0094 a0001c0002t0004g0148 a0001c0002t0004g0223 a0001c0002t0004g0252 a0001c0002t0004g0284 a0001c0002t0004g0311 a0001c0002t0013g0288 a0001c0002t0036g0171 a0001c0002t0040g0160 a0001c0005t0004g0293 a0001c0014t0004g0081	22	326	0.0675	-60	c.124 others(77): Show c.1244+305_1244+364delTGGGGCTACAGAGGCAGGAAGGGGGCTG CGCAGACTGGAAAGGGGCTGCAGAGGCTGGAA		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21						chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3103833	AGCCTCTG others(53): Show AGCCTCTGCAGCCCCTTTCCAGTCTGCGCAGCCCCCTTCCTGCCTCTGTA GCCCCATTCCT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01928.hp1 HG01928.hp2 others(7): Show HG01256.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp2 HG02129.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0019 a0001c0001 a0001c0002 a0008c0019	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0008c0019t0001	a0001c0001t0001g0102 a0001c0001t0001g0193 a0001c0001t0001g0248 others(7): Show a0001c0001t0001g0102 a0001c0001t0001g0193 a0001c0001t0001g0248 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0002t0002g0144 a0001c0002t0004g0274 a0001c0002t0005g0122 a0008c0019t0001g0314	10	326	0.0307	-60	c.124 others(77): Show c.1244+300_1244+359delAGGAATGGGGCTACAGAGGCAGGAAGGG GGCTGCGCAGACTGGAAAGGGGCTGCAGAGGC		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21						chr11	TogoVar
P2RX5_chr17_3668227_3701155	3686115	CCCCCGCC others(53): Show CCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGAC CCTCCCAACGT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	362	0.0028	-60	c.981 others(77): Show c.981+1837_981+1896delACGTTGGGAGGGTCCCTGGGGGCCCCGC TGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686244	CCCCCGCC others(53): Show CCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGAC CCTCCCAACGT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA20905.hp2 HG01070.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0276 a0001c0001t0001g0246 a0001c0001t0001g0276	2	362	0.0055	-60	c.981 others(77): Show c.981+1708_981+1767delACGTTGGGAGGGTCCCTGGGGGCCCCGC TGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3699877	GGAAGGAA others(53): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAG AAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0027 a0003c0004t0001g0027	1	362	0.0028	-60	c.-39 others(71): Show c.-3932_-3873delTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTC		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding					3723		chr17	TogoVar
P2RY12_chr3_151331843_151389753	151368604	TATTTTAT others(53): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTT CATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0234 a0001c0001t0003g0054 a0001c0001t0003g0234	2	396	0.0051	-60	c.-18 others(81): Show c.-180+16028_-180+16087delGAAATGAAATGAAATGAAATGAAA TGAAATGAAATAAAATAAAATAAAATAAAATAAAAT		P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2						chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368624	TATTTTAT others(53): Show TATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT CATGTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01361.hp2 HG01433.hp1 others(18): Show HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG02071.hp1 HG02148.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03710.hp2 HG03831.hp2 HG04204.hp2 NA18941.hp2 NA18987.hp2 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0005 a0001c0001t0001 a0002c0004t0005	a0001c0001t0001g0014 a0001c0001t0001g0085 a0001c0001t0001g0087 others(17): Show a0001c0001t0001g0014 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0292 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0002c0004t0005g0080 a0002c0004t0005g0081	21	396	0.0530	-60	c.-18 others(81): Show c.-180+16008_-180+16067delGAAATGACATGAAATGAAATGAAA TGAAATGAAATGAAATGAAATGAAATGAAATAAAAT		P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2						chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368677	GTCATTTC others(53): Show GTCATTTCATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG01069.hp1 others(91): Show HG00408.hp1 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02735.hp2 HG02895.hp1 HG03041.hp1 HG03195.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18961.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp1 NA18982.hp1 NA18987.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0002t0002 a0001c0003t0004 a0001c0005t0006 a0005c0008t0001	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 others(71): Show a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0078 a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0235 a0001c0001t0001g0246 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0004g0245 a0001c0001t0016g0184 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0028 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0075 a0001c0002t0002g0123 a0001c0002t0002g0146 a0001c0002t0002g0178 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0216 a0001c0002t0002g0222 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0236 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0260 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0003t0004g0318 a0001c0005t0006g0134 a0005c0008t0001g0237	94	396	0.2374	-60	c.-18 others(81): Show c.-180+15955_-180+16014delAATGAAATGAAATGAAATGAAATG AAATGAAATGAAATGAAATGAAATAAAATGAAATGA		P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2						chr3	TogoVar
P2RY8_chrX_1457581_1542185	1524681	CCATCCAT others(53): Show CCATCCATCCATCCATCCATCCATCCACTCATCCATTCATCCATCCATCC ATACATCCATG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG01346.hp2 others(3): Show HG00099.hp1 HG00408.hp2 HG01346.hp2 NA18906.hp1 NA18971.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033	a0001c0001t0001g0071 a0001c0001t0001g0103 a0001c0001t0023g0059 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0103 a0001c0001t0023g0059 a0001c0001t0024g0070 a0001c0001t0025g0110 a0001c0001t0033g0113	6	114	0.0526	-60	c.-25 others(79): Show c.-25+12180_-25+12239delCATGGATGTATGGATGGATGGATGAA TGGATGAGTGGATGGATGGATGGATGGATGGATG		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
PACS2_chr14_105309748_105403147	105335319	AGTGGCTG others(53): Show AGTGGCTGTGACGCTGTGGCCGGCGCCTGGCGTGGCTGTGACGCTGTGGC CGGCGCCTGGC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04184.hp1 NA18945.hp1 others(1): Show HG03704.hp1 HG04184.hp1 NA18945.hp1 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0011 a0002c0002t0036 a0002c0002t0001 a0002c0002t0011 a0002c0002t0036	a0002c0002t0001g0019 a0002c0002t0011g0020 a0002c0002t0011g0021 others(1): Show a0002c0002t0001g0019 a0002c0002t0011g0020 a0002c0002t0011g0021 a0002c0002t0036g0018	4	210	0.0191	-60	c.120 others(79): Show c.120-13167_120-13108delGTGACGCTGTGGCCGGCGCCTGGCGT GGCTGTGACGCTGTGGCCGGCGCCTGGCGTGGCT		PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
PAH_chr12_102831889_102922244	102867850	TATGTATA others(53): Show TATGTATATACATATATAGATGTATATATACATGTATATACATATATAGA TGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	312	0.0032	-60	c.442 others(77): Show c.442-1247_442-1188delGTATATATACATCTATATATGTATATAC ATGTATATATACATCTATATATGTATATACAT		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12						chr12	TogoVar
PAK3_chrX_111091191_111232361	111171390	CTTCAAAG others(53): Show CTTCAAAGTATACCCTTGAGAAGCTGCACCCTTATTCCCATGATTGTTCT ATAACCCCAAG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0153 a0001c0002t0008g0153	1	195	0.0051	-60	c.767 others(77): Show c.767-1627_767-1568delTTCAAAGTATACCCTTGAGAAGCTGCAC CCTTATTCCCATGATTGTTCTATAACCCCAAG		PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	10/17						chrX	TogoVar
PAK5_chr20_9532370_9844076	9766357	ATATATAT others(53): Show ATATATATATATATTCAAGCAGAATATATATGTATATATATATTCAAGCA GAATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	208	0.0048	-60	c.-16 others(81): Show c.-161-54982_-161-54923delCATATATATTCTGCTTGAATATAT ATATACATATATATTCTGCTTGAATATATATATATA		PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9						chr20	TogoVar
PAOX_chr10_133374262_133396694	133379037	TTCCCCGC others(53): Show TTCCCCGCCCCTCCCCGCCCCTCCCCGCCCCTCCCCGCGCCTCCCCGCGC CTCCCCGCGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	346	0.0029	-60	c.-27 others(69): Show c.-279_-220delTCCCCGCCCCTCCCCGCCCCTCCCCGCCCCTCCCCG CGCCTCCCCGCGCCTCCCCGCGCC		PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding					224		chr10	TogoVar
PAPLN_chr14_73232506_73279623	73236878	GGAGGGAG others(53): Show GGAGGGAGGAAAGTAGAAAGAAAGAAAAGAGGAAGGGAGGGAGGGAAAGA AAGAAGAAAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01167.hp1 HG01884.hp1 others(3): Show HG01069.hp2 HG01167.hp1 HG01884.hp1 HG02572.hp1 HG03098.hp2 HG03579.hp2	a0002 a0003 a0015 others(1): Show a0002 a0003 a0015 a0031	a0002c0001 a0003c0020 a0015c0018 others(1): Show a0002c0001 a0003c0020 a0015c0018 a0031c0059	a0002c0001t0001 a0003c0020t0002 a0015c0018t0007 others(1): Show a0002c0001t0001 a0003c0020t0002 a0015c0018t0007 a0031c0059t0001	a0002c0001t0001g0018 a0003c0020t0002g0111 a0003c0020t0002g0394 others(2): Show a0002c0001t0001g0018 a0003c0020t0002g0111 a0003c0020t0002g0394 a0015c0018t0007g0030 a0031c0059t0001g0233	6	418	0.0144	-60	c.-72 others(69): Show c.-720_-661delGAGGGAGGAAAGTAGAAAGAAAGAAAAGAGGAAGGG AGGGAGGGAAAGAAAGAAGAAAGT		PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding					627		chr14	TogoVar
PAQR5_chr15_69293912_69412780	69355288	TTTTCTTT others(53): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG03130.hp2 others(2): Show HG02145.hp2 HG02559.hp1 HG03130.hp2 HG03486.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0001c0001t0001 a0001c0001t0003 a0002c0002t0002	a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0003g0005 a0002c0002t0002g0004	5	284	0.0176	-60	c.-11 others(79): Show c.-115-4636_-115-4577delTTCTTTCTTTCTTTTTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69383345	GGTGGAGG others(53): Show GGTGGAGGGTGAGTGGGCCTTTGTGTACATGGTGGAGGGTGACTGGCCCT CTGTGTTCATC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG01167.hp2 others(24): Show HG00408.hp2 HG00423.hp1 HG01167.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02683.hp1 HG02897.hp2 HG02976.hp1 NA18947.hp1 NA18954.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18979.hp2 NA18981.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19063.hp1 NA19067.hp2 NA19081.hp1 NA19086.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0003t0003	a0001c0001t0003g0131 a0001c0001t0006g0251 a0001c0001t0019g0039 others(24): Show a0001c0001t0003g0131 a0001c0001t0006g0251 a0001c0001t0019g0039 a0001c0003t0003g0028 a0001c0003t0003g0068 a0001c0003t0003g0083 a0001c0003t0003g0106 a0001c0003t0003g0114 a0001c0003t0003g0118 a0001c0003t0003g0142 a0001c0003t0003g0159 a0001c0003t0003g0182 a0001c0003t0003g0220 a0001c0003t0003g0259 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0267 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0279 a0001c0003t0003g0281 a0001c0003t0003g0282	27	284	0.0951	-60	c.180 others(77): Show c.180-1313_180-1254delTTTGTGTACATGGTGGAGGGTGACTGGC CCTCTGTGTTCATCGTGGAGGGTGAGTGGGCC		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69383764	CTCATGGT others(53): Show CTCATGGTGGAGGGTGAGTGGGCCTTTGTGTTCATGGTGGAGGGTGAGTG GGCCTTTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0246 a0001c0001t0021g0246	1	284	0.0035	-60	c.180 others(75): Show c.180-772_180-713delGCCTTTGTGTTCATGGTGGAGGGTGAGTGG GCCTTTGTGTTCATGGTGGAGGGTGAGTGG		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARP12_chr7_140018749_140067951	140035996	GAGGAGAA others(53): Show GAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGA GAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(135): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03942.hp1 HG03942.hp2 NA18906.hp1 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19075.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0014	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0006t0001 a0001c0009t0001 a0001c0014t0001	a0001c0001t0002g0244 a0001c0002t0001g0004 a0001c0002t0001g0006 others(99): Show a0001c0001t0002g0244 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0075 a0001c0002t0001g0157 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0189 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0003t0001g0159 a0001c0003t0003g0029 a0001c0003t0003g0144 a0001c0006t0001g0002 a0001c0006t0001g0199 a0001c0006t0001g0226 a0001c0009t0001g0267 a0001c0009t0001g0271 a0001c0009t0001g0273 a0001c0014t0001g0248	138	360	0.3833	-60	c.132 others(79): Show c.1324+1659_1325-1666delTCTCCTCCTTCTCCTCCTTCTCCTCC TTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCT		PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11						chr7	TogoVar
PARVB_chr22_44019302_44177939	44124556	GTCCTGGA others(53): Show GTCCTGGAGGGTCAGTCCCACAGACAAGCCCCATCCTGTGGGAGGGTCTC CCCGTGGGCCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp1 HG03540.hp1 others(1): Show HG02258.hp2 HG03225.hp1 HG03540.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0003c0033 a0001c0001 a0003c0006 a0003c0033	a0001c0001t0057 a0003c0006t0003 a0003c0006t0046 others(1): Show a0001c0001t0057 a0003c0006t0003 a0003c0006t0046 a0003c0033t0002	a0001c0001t0057g0117 a0003c0006t0003g0104 a0003c0006t0046g0318 others(1): Show a0001c0001t0057g0117 a0003c0006t0003g0104 a0003c0006t0046g0318 a0003c0033t0002g0195	4	332	0.0121	-60	c.376 others(77): Show c.376+5454_376+5513delTGGGAGGGTCTCCCCGTGGGCCATCCTG GAGGGTCAGTCCCACAGACAAGCCCCATCCTG		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PATL1_chr11_59631716_59674037	59672310	CTATATAT others(53): Show CTATATATATATATATATATATATATATATATATATATATATATATGGTT TTTTTTGTATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02572.hp1 others(7): Show HG01884.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02976.hp1 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0005 a0001c0001 a0001c0010 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0010t0014 a0003c0005t0001	a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0046 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0004g0169 a0001c0001t0004g0198 a0001c0001t0010g0047 a0001c0010t0014g0210 a0003c0005t0001g0044 a0003c0005t0001g0045	10	276	0.0362	-60	c.-34 others(71): Show c.-3475_-3416delTATACAAAAAAAACCATATATATATATATATATA TATATATATATATATATATATATATA		PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding					3274		chr11	TogoVar
PAX5_chr9_36828269_37039268	36973078	CGGAACGG others(53): Show CGGAACGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGAAAA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	274	0.0037	-60	c.605 others(77): Show c.605-6414_605-6355delTTTTCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCGTTCC		PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9						chr9	TogoVar
PAX5_chr9_36828269_37039268	36973083	CGGAAAGG others(53): Show CGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGAAAAGGAAA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA21309.hp1 HG03927.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0023 a0001c0001t0001 a0001c0002t0023	a0001c0001t0001g0118 a0001c0002t0023g0057 a0001c0001t0001g0118 a0001c0002t0023g0057	2	274	0.0073	-60	c.605 others(77): Show c.605-6419_605-6360delTTTCCTTTTCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC		PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9						chr9	TogoVar
PAXBP1_chr21_32728899_32776755	32771889	AGAGAGAG others(53): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG02129.hp1 HG02970.hp1 others(4): Show HG01071.hp1 HG02129.hp1 HG02970.hp1 HG03139.hp1 HG03490.hp1 NA18997.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0085 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0085 a0001c0001t0001g0120 a0001c0001t0001g0151 a0001c0006t0001g0019	7	360	0.0194	-60	c.-28 others(69): Show c.-281_-222delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTC		PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding					135		chr21	TogoVar
PBX3_chr9_125742373_125972377	125899203	TTATAAAT others(53): Show TTATAAATATACATATGTATATATATTTATATATAAATATACATATGTAT ATATATTTATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	294	0.0034	-60	c.275 others(79): Show c.275-16437_275-16378delGTATATATATTTATATATAAATATAC ATATGTATATATATTTATATATAAATATACATAT		PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45902228	TGTGGCCT others(53): Show TGTGGCCTGGCCTCCAAGGCTGGACACTGCAGACACTGGGGCCAGTGTTC CCCTATCGTAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19240.hp1 HG01891.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0217 a0001c0001t0002g0218	2	292	0.0069	-60	c.339 others(77): Show c.339+1140_339+1199delACTGCAGACACTGGGGCCAGTGTTCCCC TATCGTAGGTGGCCTGGCCTCCAAGGCTGGAC		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45902253	ACTGCAGA others(53): Show ACTGCAGACACTGGGGCCAGTGTTCCCCTATCGTAGGTGGCCTGGCCTCC AAGGCTGGACG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(158): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19087.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0003t0014 a0001c0003t0020 a0001c0004t0002	a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0002g0010 others(158): Show a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0003g0263 a0001c0001t0004g0002 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0286 a0001c0001t0005g0292 a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0258 a0001c0001t0008g0113 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0013g0182 a0001c0001t0018g0266 a0001c0001t0019g0224 a0001c0001t0021g0085 a0001c0001t0023g0111 a0001c0003t0014g0290 a0001c0003t0014g0291 a0001c0003t0020g0222 a0001c0004t0002g0086 a0001c0004t0002g0087	161	292	0.5514	-60	c.339 others(77): Show c.339+1187_339+1246delTCCAAGGCTGGACGCTGCAGACACTGGG GCCAGTGTTCCCCTATCGTAGGTGGCCTGGCC		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH15_chr10_53797771_54806231	54306999	AATATATA others(53): Show AATATATATATATATACATATATATATATATGTGTGTGTGTGTATATATA TATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02965.hp2 NA19240.hp1 HG00735.hp1 HG02965.hp2 NA19240.hp1	a0003 a0016 a0003 a0016	a0003c0003 a0016c0012 a0003c0003 a0016c0012	a0003c0003t0001 a0003c0003t0004 a0016c0012t0001 a0003c0003t0001 a0003c0003t0004 a0016c0012t0001	a0003c0003t0001g0017 a0003c0003t0004g0088 a0016c0012t0001g0008 a0003c0003t0001g0017 a0003c0003t0004g0088 a0016c0012t0001g0008	3	102	0.0294	-60	c.876 others(79): Show c.876+10212_876+10271delATATATATATATATATATACACACAC ACACATATATATATATATGTATATATATATATAT		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37						chr10	TogoVar
PCDH15_chr10_53797771_54806231	54307021	TATATATA others(53): Show TATATATATGTGTGTGTGTGTATATATATATATATATATATATATATATA TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01981.hp2 HG02922.hp2 others(5): Show HG01243.hp1 HG01981.hp2 HG02922.hp2 HG03139.hp1 HG03579.hp1 HG03710.hp1 HG06807.hp1 NA18945.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0013 a0018 a0031	a0001c0001 a0002c0002 a0007c0007 others(3): Show a0001c0001 a0002c0002 a0007c0007 a0013c0015 a0018c0037 a0031c0020	a0001c0001t0001 a0001c0001t0003 a0002c0002t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0007 a0002c0002t0008 a0007c0007t0022 a0013c0015t0001 a0018c0037t0013 a0031c0020t0007	a0001c0001t0001g0044 a0001c0001t0003g0015 a0002c0002t0007g0038 others(5): Show a0001c0001t0001g0044 a0001c0001t0003g0015 a0002c0002t0007g0038 a0002c0002t0008g0019 a0007c0007t0022g0075 a0013c0015t0001g0029 a0018c0037t0013g0062 a0031c0020t0007g0083	8	102	0.0784	-60	c.876 others(79): Show c.876+10190_876+10249delGTATATATATATATATATATATATAT ATATATATATATATACACACACACACATATATAT		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37						chr10	TogoVar
PCDH15_chr10_53797771_54806231	54307044	ATATATAT others(53): Show ATATATATATATATATATATATATATATATATATATACATATATATATAT GTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0013 a0028c0034t0013	a0028c0034t0013g0058 a0028c0034t0013g0058	1	102	0.0098	-60	c.876 others(79): Show c.876+10167_876+10226delCACACACACACATATATATATATGTA TATATATATATATATATATATATATATATATATA		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54306999	AATATATA others(53): Show AATATATATATATATACATATATATATATATGTGTGTGTGTGTATATATA TATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02965.hp1 NA19240.hp1 HG00735.hp1 HG02965.hp1 NA19240.hp1	a0003 a0014 a0003 a0014	a0003c0003 a0014c0012 a0003c0003 a0014c0012	a0003c0003t0001 a0003c0003t0002 a0014c0012t0001 a0003c0003t0001 a0003c0003t0002 a0014c0012t0001	a0003c0003t0001g0017 a0003c0003t0002g0080 a0014c0012t0001g0008 a0003c0003t0001g0017 a0003c0003t0002g0080 a0014c0012t0001g0008	3	94	0.0319	-60	c.876 others(79): Show c.876+10212_876+10271delATATATATATATATATATACACACAC ACACATATATATATATATGTATATATATATATAT		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307021	TATATATA others(53): Show TATATATATGTGTGTGTGTGTATATATATATATATATATATATATATATA TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01981.hp2 HG02922.hp2 others(5): Show HG01243.hp2 HG01981.hp2 HG02922.hp2 HG03139.hp1 HG03579.hp1 HG03710.hp2 HG06807.hp2 NA18945.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0009 a0013 a0016 a0029	a0001c0001 a0002c0002 a0003c0005 others(4): Show a0001c0001 a0002c0002 a0003c0005 a0009c0014 a0013c0017 a0016c0043 a0029c0030	a0001c0001t0001 a0002c0002t0002 a0003c0005t0001 others(4): Show a0001c0001t0001 a0002c0002t0002 a0003c0005t0001 a0009c0014t0001 a0013c0017t0001 a0016c0043t0004 a0029c0030t0001	a0001c0001t0001g0015 a0001c0001t0001g0041 a0002c0002t0002g0019 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0041 a0002c0002t0002g0019 a0003c0005t0001g0075 a0009c0014t0001g0069 a0013c0017t0001g0026 a0016c0043t0004g0058 a0029c0030t0001g0035	8	94	0.0851	-60	c.876 others(79): Show c.876+10190_876+10249delGTATATATATATATATATATATATAT ATATATATATATATACACACACACACATATATAT		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32						chr10	TogoVar
PCNT_chr21_46319156_46450769	46413022	CCCCGGGA others(53): Show CCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CACGAGGCCCA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG01361.hp2 others(6): Show HG00438.hp1 HG00621.hp2 HG01361.hp2 HG02165.hp2 HG02523.hp1 HG03942.hp1 NA18612.hp1 NA18977.hp1 NA19010.hp2	a0001 a0003 a0021 others(1): Show a0001 a0003 a0021 a0056	a0001c0001 a0003c0080 a0021c0035 others(1): Show a0001c0001 a0003c0080 a0021c0035 a0056c0063	a0001c0001t0001 a0003c0080t0001 a0021c0035t0001 others(1): Show a0001c0001t0001 a0003c0080t0001 a0021c0035t0001 a0056c0063t0001	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 others(6): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0319 a0003c0080t0001g0161 a0021c0035t0001g0254 a0056c0063t0001g0242	9	332	0.0271	-60	c.615 others(77): Show c.6150+172_6150+231delGGCAGCAAGGTGTGGGGAGCGGGGAAGG CACGAGGCCCACCCGGGAGAGGCTGGACACGC		PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413164	GGCAGCAA others(53): Show GGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGG CTGGACACGCA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0026 a0026	a0026c0026 a0026c0026	a0026c0026t0001 a0026c0026t0001	a0026c0026t0001g0271 a0026c0026t0001g0272 a0026c0026t0001g0271 a0026c0026t0001g0272	2	332	0.0060	-60	c.615 others(77): Show c.6150+191_6150+250delCGGGGAAGGCACGAGGCCCACCCGGGAG AGGCTGGACACGCAGCAGCAAGGTGTGGGGAG		PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNX1_chr14_70902459_71120382	70910094	TCCCCCTC others(53): Show TCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTC CCCCTCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0055 a0001c0002t0005g0055	1	352	0.0028	-60	c.153 others(77): Show c.153+2094_153+2153delCCCTCCTCCTCCCCCTCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCCCCTCCTCCCCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar

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