Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PPARGC1B_chr5_149725310_149860022	149778061	TCTCACAC others(3): Show TCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01496.hp1 HG02040.hp1 others(9): Show HG01168.hp1 HG01496.hp1 HG02040.hp1 HG02723.hp1 HG02723.hp2 HG02965.hp2 HG03098.hp1 NA18906.hp2 NA18974.hp2 NA18999.hp1 NA19085.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0004 a0001c0009 others(5): Show a0001c0001 a0001c0004 a0001c0009 a0002c0008 a0003c0003 a0003c0012 a0005c0011 a0005c0026	a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 others(9): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 a0001c0004t0006 a0001c0009t0009 a0002c0008t0005 a0003c0003t0004 a0003c0012t0014 a0005c0011t0001 a0005c0011t0009 a0005c0011t0027 a0005c0026t0034	a0001c0001t0003g0087 a0001c0001t0007g0112 a0001c0001t0020g0299 others(9): Show a0001c0001t0003g0087 a0001c0001t0007g0112 a0001c0001t0020g0299 a0001c0004t0006g0102 a0001c0009t0009g0130 a0002c0008t0005g0129 a0003c0003t0004g0294 a0003c0012t0014g0110 a0005c0011t0001g0128 a0005c0011t0009g0132 a0005c0011t0027g0133 a0005c0026t0034g0310	12	320	0.0375	-10	c.79- others(27): Show c.79-42370_79-42361delTCACACACAC	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149801634	AGGGAGCC others(3): Show AGGGAGCCAGT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01258.hp2 HG02559.hp1 HG01106.hp2 HG01258.hp2 HG02559.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0012 a0004c0005t0001 a0004c0005t0012	a0004c0005t0001g0139 a0004c0005t0001g0245 a0004c0005t0012g0251 a0004c0005t0001g0139 a0004c0005t0001g0245 a0004c0005t0012g0251	3	320	0.0094	-10	c.79- others(27): Show c.79-18795_79-18786delAGCCAGTGGG	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149830045	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0198 a0001c0001t0045g0198	1	320	0.0031	-10	c.466 others(25): Show c.466-712_466-703delGAAAAAAAAA	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARG_chr3_12284070_12439344	12310791	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	294	0.0034	-10	c.-82 others(27): Show c.-82-1565_-82-1556delAAAAAAAAAA	PPARG	ENSG00000132170.24	transcript	ENST00000651735.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPARG_chr3_12284070_12439344	12429552	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01515.hp2 others(3): Show HG00741.hp2 HG01071.hp1 HG01515.hp2 NA18942.hp1 NA18989.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0001g0278 others(3): Show a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0293	6	294	0.0204	-10	c.118 others(29): Show c.1181-4334_1181-4325delAAAAAAAAAA	PPARG	ENSG00000132170.24	transcript	ENST00000651735.1	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPAT_chr4_56388362_56440615	56402839	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp2 NA19059.hp2 HG02451.hp2 HG02895.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0014 a0001c0001t0009 a0001c0001t0014	a0001c0001t0009g0288 a0001c0001t0009g0289 a0001c0001t0014g0277 a0001c0001t0009g0288 a0001c0001t0009g0289 a0001c0001t0014g0277	3	384	0.0078	-10	c.661 others(25): Show c.661+191_661+200delCTTTTTTTTT	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding	5/10			chr4	TogoVar
PPAT_chr4_56388362_56440615	56422482	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0115 a0001c0002t0003g0115	1	384	0.0026	-10	c.128 others(29): Show c.128+12858_128+12867delACACACACAC	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding	1/10			chr4	TogoVar
PPAT_chr4_56388362_56440615	56438371	TTATATAT others(3): Show TTATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01258.hp1 HG02027.hp1 others(9): Show HG00438.hp1 HG01258.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02922.hp1 NA18906.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 a0001c0002t0024 a0001c0003t0005	a0001c0001t0001g0162 a0001c0001t0001g0222 a0001c0001t0002g0010 others(8): Show a0001c0001t0001g0162 a0001c0001t0001g0222 a0001c0001t0002g0010 a0001c0001t0002g0040 a0001c0002t0007g0290 a0001c0002t0007g0291 a0001c0002t0007g0292 a0001c0002t0024g0095 a0001c0003t0005g0003 a0001c0003t0005g0029 a0001c0003t0005g0198	12	384	0.0313	-10	c.-29 others(21): Show c.-2904_-2895delTATATATATA	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding		2757		chr4	TogoVar
PPBP_chr4_73981439_73993190	73983385	AACACACA others(3): Show AACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03516.hp2 NA18906.hp2 HG02615.hp1 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	368	0.0082	-10	c.38 others(21): Show c.3877_*3886delGTGTGTGTGT	PPBP	ENSG00000163736.4	transcript	ENST00000296028.4	protein_coding		3053		chr4	TogoVar
PPCDC_chr15_75018590_75055726	75054740	TTGAGAAA others(3): Show TTGAGAAACAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	398	0.0025	-10	c.55 others(21): Show c.5506_*5515delTGAGAAACAA	PPCDC	ENSG00000138621.12	transcript	ENST00000342932.8	protein_coding		4015		chr15	TogoVar
PPDPF_chr20_63515765_63527206	63523355	CCAGCCAC others(3): Show CCAGCCACGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	-10	c.14 others(21): Show c.1477_*1486delCAGCCACGCT	PPDPF	ENSG00000125534.10	transcript	ENST00000370179.8	protein_coding		1150		chr20	TogoVar
PPEF1_chrX_18702645_18832917	18817068	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03098.hp1 HG00558.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0029 a0001c0005t0001g0182 a0001c0001t0001g0029 a0001c0005t0001g0182	2	224	0.0089	-10	c.139 others(27): Show c.1395-943_1395-934delGTGTGTGTGT	PPEF1	ENSG00000086717.19	transcript	ENST00000470157.2	protein_coding	12/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PPEF1_chrX_18702645_18832917	18821758	CGAGAGAG others(3): Show CGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG02257.hp1 others(7): Show HG01243.hp1 HG02145.hp1 HG02257.hp1 HG02293.hp2 HG02572.hp1 HG02886.hp2 HG02922.hp1 HG03471.hp1 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0019 a0001c0001t0001g0075 a0001c0001t0001g0090 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0008t0001g0080	10	224	0.0446	-10	c.150 others(29): Show c.1502-2128_1502-2119delGAGAGAGAGA	PPEF1	ENSG00000086717.19	transcript	ENST00000470157.2	protein_coding	13/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PPEF1_chrX_18702645_18832917	18830893	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02970.hp1 HG02976.hp1 others(1): Show HG02615.hp1 HG02970.hp1 HG02976.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0001 a0001c0001t0001 a0003c0009t0001	a0001c0001t0001g0085 a0001c0001t0001g0132 a0001c0001t0001g0220 others(1): Show a0001c0001t0001g0085 a0001c0001t0001g0132 a0001c0001t0001g0220 a0003c0009t0001g0004	4	224	0.0179	-10	c.34 others(21): Show c.3407_*3416delAAAAAAAAAA	PPEF1	ENSG00000086717.19	transcript	ENST00000470157.2	protein_coding		2977		chrX	TogoVar
PPEF2_chr4_75854867_75907452	75856846	GTATATAT others(3): Show GTATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02258.hp2 HG02559.hp1	a0002 a0005 a0002 a0005	a0002c0011 a0005c0017 a0002c0011 a0005c0017	a0002c0011t0001 a0005c0017t0001 a0002c0011t0001 a0005c0017t0001	a0002c0011t0001g0056 a0005c0017t0001g0189 a0002c0011t0001g0056 a0005c0017t0001g0189	2	270	0.0074	-10	c.38 others(21): Show c.3811_*3820delTATATATATA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding		3020		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75891188	AAAAAGAA others(3): Show AAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	270	0.0037	-10	c.241 others(25): Show c.241+450_241+459delCTTTTCTTTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	4/16			chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70279722	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(67): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00738.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02055.hp2 HG02135.hp2 HG02273.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG03017.hp1 HG03041.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 NA18522.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18984.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19058.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp1 NA19083.hp1 NA19091.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0002c0009 a0005c0008	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 a0002c0009t0001 a0005c0008t0002	a0001c0001t0002g0004 a0002c0002t0001g0081 a0002c0002t0001g0103 others(66): Show a0001c0001t0002g0004 a0002c0002t0001g0081 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0143 a0002c0002t0002g0002 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0144 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0006t0002g0001 a0002c0006t0002g0102 a0002c0006t0002g0110 a0002c0006t0002g0142 a0002c0006t0002g0145 a0002c0009t0001g0121 a0005c0008t0002g0127	70	282	0.2482	-10	c.264 others(27): Show c.264+7317_264+7326delGTGTGTGTGT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70315678	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	282	0.0036	-10	c.265 others(27): Show c.265-8708_265-8699delTTTTTTTTTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70342936	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	282	0.0036	-10	c.170 others(27): Show c.1708-713_1708-704delTTTTTTTTTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70385702	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	282	0.0036	-10	c.27 others(21): Show c.2713_*2722delAAAAAAAAAA	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding		1307		chr11	TogoVar
PPFIA2_chr12_81252975_81764350	81268132	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18953.hp1 NA18982.hp2 others(3): Show HG03710.hp1 NA18953.hp1 NA18982.hp2 NA18986.hp2 NA18994.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0132 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0132 a0001c0002t0001g0060 a0001c0005t0001g0100 a0001c0005t0001g0105	6	168	0.0357	-10	c.331 others(25): Show c.3311-55_3311-46delAAAAAAAAAA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	28/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81331515	TATTATAG others(3): Show TATTATAGTAG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	168	0.0060	-10	c.254 others(29): Show c.2549-5655_2549-5646delCTACTATAAT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	21/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81407481	TTAAAATA others(3): Show TTAAAATAAAA	T T	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	168	0.0060	-10	c.646 others(27): Show c.646-1588_646-1579delTTTTATTTTA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415204	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0026 a0001c0004t0001g0026	1	168	0.0060	-10	c.646 others(27): Show c.646-9311_646-9302delATATTTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415206	AAAAAATA others(3): Show AAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG01981.hp1 others(1): Show HG01192.hp1 HG01243.hp2 HG01981.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0009 a0002c0003t0001 a0001c0001t0001 a0001c0001t0009 a0002c0003t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0009g0076 others(1): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0009g0076 a0002c0003t0001g0036	4	168	0.0238	-10	c.646 others(27): Show c.646-9313_646-9304delATATATTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415208	AAAATATA others(3): Show AAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	168	0.0060	-10	c.646 others(27): Show c.646-9315_646-9306delATATATATTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415210	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	168	0.0060	-10	c.646 others(27): Show c.646-9317_646-9308delATATATATAT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81417381	CAAATGTG others(3): Show CAAATGTGTCG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp1 others(66): Show HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00735.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01496.hp2 HG01981.hp1 HG02004.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02300.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03491.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18973.hp1 NA18977.hp1 NA18982.hp2 NA18986.hp1 NA18987.hp1 NA18994.hp2 NA19005.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0005t0001 a0002c0003t0001 a0003c0006t0002	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 others(66): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0066 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0130 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0004g0034 a0001c0001t0004g0121 a0001c0001t0004g0128 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0005g0019 a0001c0001t0005g0023 a0001c0001t0006g0012 a0001c0001t0007g0001 a0001c0001t0009g0076 a0001c0002t0001g0086 a0001c0002t0001g0103 a0001c0002t0001g0124 a0001c0002t0002g0054 a0001c0002t0002g0080 a0001c0002t0002g0159 a0001c0002t0005g0004 a0001c0005t0001g0100 a0001c0005t0001g0105 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0129 a0002c0003t0001g0135 a0003c0006t0002g0138	69	168	0.4107	-10	c.646 others(29): Show c.646-11488_646-11479delCGACACATTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81432154	ATGGCATA others(3): Show ATGGCATAAAG	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19080.hp1 NA19083.hp2 NA18955.hp2 NA19080.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0014 a0001c0002t0006g0016 a0001c0002t0006g0025 a0001c0002t0006g0014 a0001c0002t0006g0016 a0001c0002t0006g0025	3	168	0.0179	-10	c.645 others(27): Show c.645+7808_645+7817delCTTTATGCCA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81436279	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03491.hp2 NA21309.hp2 HG03041.hp1 HG03491.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0002t0001g0086 a0001c0002t0002g0080 a0001c0002t0005g0004 a0001c0002t0001g0086 a0001c0002t0002g0080 a0001c0002t0005g0004	3	168	0.0179	-10	c.645 others(27): Show c.645+3683_645+3692delTTTTTTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81458351	TTTACAAA others(3): Show TTTACAAAATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(89): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01981.hp1 HG02004.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03491.hp1 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA18973.hp1 NA18977.hp1 NA18986.hp1 NA18987.hp1 NA18994.hp1 NA19000.hp1 NA19005.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0002c0003t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 others(89): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0130 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0004g0027 a0001c0001t0004g0034 a0001c0001t0004g0084 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0128 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0005g0007 a0001c0001t0005g0019 a0001c0001t0005g0023 a0001c0001t0006g0012 a0001c0001t0007g0001 a0001c0001t0008g0115 a0001c0001t0009g0076 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0129 a0002c0003t0001g0135	92	168	0.5476	-10	c.304 others(25): Show c.304-495_304-486delTATTTTGTAA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81493750	GTGTCTAT others(3): Show GTGTCTATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01168.hp2 others(3): Show HG00323.hp1 HG00741.hp1 HG01168.hp2 HG01192.hp2 HG02257.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0004t0002	a0001c0001t0001g0074 a0001c0001t0001g0110 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0074 a0001c0001t0001g0110 a0001c0001t0001g0149 a0001c0001t0003g0006 a0001c0001t0004g0027 a0001c0004t0002g0137	6	168	0.0357	-10	c.304 others(29): Show c.304-35894_304-35885delTATATAGACA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81618253	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01496.hp2 HG01981.hp2 others(17): Show HG00323.hp2 HG01496.hp2 HG01981.hp2 HG02129.hp2 HG02155.hp2 HG03017.hp1 HG03139.hp1 NA18747.hp2 NA18939.hp1 NA18953.hp2 NA18973.hp2 NA18977.hp2 NA18986.hp2 NA19062.hp1 NA19064.hp2 NA19068.hp2 NA19081.hp1 NA19083.hp1 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0065 others(17): Show a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0002g0161 a0001c0001t0004g0034 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0164 a0001c0002t0002g0104	20	168	0.1191	-10	c.303 others(29): Show c.303+58528_303+58537delCACACACACA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81637236	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01168.hp1 HG01261.hp2 others(17): Show HG01069.hp1 HG01168.hp1 HG01261.hp2 HG02083.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG03491.hp1 HG03710.hp2 NA18612.hp1 NA18747.hp1 NA19074.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0092 a0001c0001t0001g0118 a0001c0001t0001g0134 others(17): Show a0001c0001t0001g0092 a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0002g0037 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0147 a0001c0001t0003g0003 a0001c0001t0004g0084 a0001c0001t0004g0154 a0001c0001t0005g0007 a0001c0001t0008g0115 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0079 a0001c0004t0001g0127 a0001c0004t0001g0133 a0001c0004t0002g0137	20	168	0.1191	-10	c.303 others(29): Show c.303+39545_303+39554delAAAAAAAAAA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81743411	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp1 NA19240.hp1 HG02717.hp1 HG03041.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0004g0085 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0004g0085	3	168	0.0179	-10	c.249 others(29): Show c.249+10552_249+10561delTTTTTTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	3/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81762269	GTATATAT others(3): Show GTATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01069.hp2 HG01257.hp1 others(18): Show HG00558.hp1 HG01069.hp2 HG01257.hp1 HG01496.hp1 HG02004.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02615.hp1 HG02698.hp2 HG03654.hp1 NA18522.hp1 NA18953.hp1 NA18977.hp1 NA18987.hp1 NA18994.hp2 NA19057.hp2 NA19074.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0095 others(18): Show a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0161 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0109 a0001c0002t0001g0167 a0001c0002t0002g0104 a0001c0004t0001g0026 a0001c0005t0001g0100 a0001c0005t0001g0105	21	168	0.1250	-10	c.-31 others(21): Show c.-3110_-3101delTATATATATA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding		2920		chr12	TogoVar
PPFIA3_chr19_49114544_49156026	49141068	CTGACATC others(3): Show CTGACATCACA	C C	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	362	0.0028	-10	c.236 others(27): Show c.2369-351_2369-342delTGACATCACA	PPFIA3	ENSG00000177380.14	transcript	ENST00000334186.9	protein_coding	18/29			chr19	TogoVar
PPFIA3_chr19_49114544_49156026	49147686	AAGAGAGA others(3): Show AAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	362	0.0028	-10	c.283 others(27): Show c.2836-381_2836-372delGAGAGAGAGA	PPFIA3	ENSG00000177380.14	transcript	ENST00000334186.9	protein_coding	23/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPFIBP1_chr12_27519206_27700564	27525513	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02895.hp1 HG02965.hp1 others(3): Show HG02258.hp1 HG02895.hp1 HG02965.hp1 HG03516.hp1 NA19240.hp1 NA20300.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0004 a0001c0009 others(2): Show a0001c0002 a0001c0004 a0001c0009 a0001c0013 a0009c0012	a0001c0002t0001 a0001c0004t0008 a0001c0009t0001 others(2): Show a0001c0002t0001 a0001c0004t0008 a0001c0009t0001 a0001c0013t0005 a0009c0012t0005	a0001c0002t0001g0251 a0001c0004t0008g0254 a0001c0004t0008g0255 others(3): Show a0001c0002t0001g0251 a0001c0004t0008g0254 a0001c0004t0008g0255 a0001c0009t0001g0256 a0001c0013t0005g0253 a0009c0012t0005g0252	6	314	0.0191	-10	c.-12 others(29): Show c.-124+1162_-124+1171delAAAAAAAAAA	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPFIBP1_chr12_27519206_27700564	27595882	ACAAAATA others(3): Show ACAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02895.hp2 HG02897.hp1 others(1): Show HG01358.hp2 HG02895.hp2 HG02897.hp1 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0020 a0006c0007 a0001c0001 a0001c0020 a0006c0007	a0001c0001t0011 a0001c0020t0010 a0006c0007t0002 a0001c0001t0011 a0001c0020t0010 a0006c0007t0002	a0001c0001t0011g0144 a0001c0020t0010g0013 a0006c0007t0002g0205 others(1): Show a0001c0001t0011g0144 a0001c0020t0010g0013 a0006c0007t0002g0205 a0006c0007t0002g0249	4	314	0.0127	-10	c.-36 others(29): Show c.-36+17644_-36+17653delCAAAATATAT	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	2/29			chr12	TogoVar
PPFIBP1_chr12_27519206_27700564	27598538	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp1 HG01168.hp1 others(8): Show HG00738.hp1 HG01167.hp1 HG01168.hp1 HG01993.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG03130.hp1 HG03516.hp2 NA18941.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0027 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0111 others(8): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0111 a0001c0001t0003g0211 a0001c0001t0006g0240 a0001c0001t0027g0129 a0001c0002t0001g0196 a0001c0002t0001g0310 a0001c0002t0003g0148 a0001c0002t0005g0036 a0001c0002t0008g0241	11	314	0.0350	-10	c.-36 others(29): Show c.-36+20329_-36+20338delGTGTGTGTGT	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPFIBP1_chr12_27519206_27700564	27674421	GATCGGTG others(3): Show GATCGGTGGTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00544.hp1 others(134): Show HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18997.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19080.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0007 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0013 a0001c0020 a0004c0005 a0005c0011 a0005c0019 a0007c0024 a0009c0012 a0010c0017 a0011c0025 a0012c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0033 a0001c0002t0036 a0001c0004t0008 a0001c0004t0010 a0001c0008t0001 a0001c0008t0005 a0001c0013t0005 a0001c0020t0010 a0004c0005t0009 a0005c0011t0001 a0005c0019t0001 a0007c0024t0014 a0009c0012t0005 a0010c0017t0010 a0011c0025t0001 a0012c0023t0026	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(134): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0273 a0001c0001t0001g0285 a0001c0001t0001g0298 a0001c0001t0001g0305 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0002g0078 a0001c0001t0002g0126 a0001c0001t0002g0210 a0001c0001t0002g0306 a0001c0001t0003g0032 a0001c0001t0003g0042 a0001c0001t0003g0233 a0001c0001t0003g0313 a0001c0001t0004g0075 a0001c0001t0005g0034 a0001c0001t0005g0153 a0001c0001t0005g0157 a0001c0001t0005g0162 a0001c0001t0005g0179 a0001c0001t0005g0300 a0001c0001t0008g0035 a0001c0001t0009g0142 a0001c0001t0009g0220 a0001c0001t0013g0155 a0001c0001t0017g0137 a0001c0001t0021g0104 a0001c0001t0025g0197 a0001c0001t0031g0070 a0001c0001t0032g0127 a0001c0001t0035g0045 a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0037 a0001c0002t0001g0049 a0001c0002t0001g0091 a0001c0002t0001g0125 a0001c0002t0001g0163 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0180 a0001c0002t0001g0184 a0001c0002t0001g0189 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0218 a0001c0002t0001g0224 a0001c0002t0001g0230 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0251 a0001c0002t0001g0263 a0001c0002t0001g0269 a0001c0002t0001g0271 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0283 a0001c0002t0001g0291 a0001c0002t0001g0302 a0001c0002t0001g0310 a0001c0002t0002g0257 a0001c0002t0002g0299 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0005g0005 a0001c0002t0005g0036 a0001c0002t0005g0092 a0001c0002t0005g0204 a0001c0002t0005g0289 a0001c0002t0005g0297 a0001c0002t0008g0241 a0001c0002t0033g0279 a0001c0002t0036g0107 a0001c0004t0008g0109 a0001c0004t0008g0254 a0001c0004t0008g0255 a0001c0004t0010g0118 a0001c0004t0010g0206 a0001c0004t0010g0225 a0001c0008t0001g0309 a0001c0008t0005g0245 a0001c0013t0005g0253 a0001c0020t0010g0013 a0004c0005t0009g0114 a0004c0005t0009g0149 a0005c0011t0001g0047 a0005c0011t0001g0308 a0005c0019t0001g0190 a0007c0024t0014g0217 a0009c0012t0005g0252 a0010c0017t0010g0207 a0011c0025t0001g0081 a0012c0023t0026g0119	137	314	0.4363	-10	c.141 others(27): Show c.1410+202_1410+211delTCGGTGGTTA	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPFIBP1_chr12_27519206_27700564	27683760	ATTTATTT others(3): Show ATTTATTTATT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0026 a0012c0023t0026	a0012c0023t0026g0119 a0012c0023t0026g0119	1	314	0.0032	-10	c.224 others(29): Show c.2247+1065_2247+1074delATTTTTATTT	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPFIBP1_chr12_27519206_27700564	27685379	GTAACTTG others(3): Show GTAACTTGGTA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	314	0.0032	-10	c.224 others(29): Show c.2248-2005_2248-1996delTAACTTGGTA	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	24/29			chr12	TogoVar
PPFIBP2_chr11_7508999_7658756	7554810	AGACTAGA others(3): Show AGACTAGATTG	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0117 a0002c0003t0001g0117	1	318	0.0031	-10	c.64+ others(25): Show c.64+5273_64+5282delACTAGATTGG	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP2_chr11_7508999_7658756	7562929	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02080.hp1 HG02257.hp1 others(5): Show HG01891.hp1 HG02080.hp1 HG02257.hp1 HG02965.hp2 HG03239.hp2 NA18612.hp1 NA18964.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 a0002c0003t0007	a0001c0001t0001g0096 a0001c0001t0001g0311 a0001c0002t0001g0153 others(5): Show a0001c0001t0001g0096 a0001c0001t0001g0311 a0001c0002t0001g0153 a0001c0002t0001g0246 a0001c0002t0001g0277 a0001c0002t0004g0185 a0001c0002t0015g0219 a0002c0003t0007g0054	8	318	0.0252	-10	c.65- others(25): Show c.65-2585_65-2576delTATATATATA	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP2_chr11_7508999_7658756	7577320	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18906.hp1 HG00733.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0002g0302 a0001c0006t0001g0252 a0001c0001t0002g0302 a0001c0006t0001g0252	2	318	0.0063	-10	c.279 others(29): Show c.279+11576_279+11585delGTGTGTGTGT	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP2_chr11_7508999_7658756	7604460	ACCCATAC others(3): Show ACCCATACACG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02451.hp2 others(8): Show HG01891.hp1 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02976.hp2 HG03209.hp1 HG03453.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0012 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0012 a0002c0003t0001 a0002c0003t0007 a0004c0008t0005 a0004c0008t0008	a0001c0001t0001g0175 a0001c0001t0001g0237 a0001c0001t0001g0238 others(8): Show a0001c0001t0001g0175 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0012g0293 a0002c0003t0001g0089 a0002c0003t0007g0054 a0004c0008t0005g0215 a0004c0008t0008g0187	11	318	0.0346	-10	c.487 others(27): Show c.487-5829_487-5820delCCATACACGC	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP2_chr11_7508999_7658756	7606886	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01071.hp2 HG01175.hp2 others(5): Show HG00323.hp2 HG01071.hp2 HG01175.hp2 HG01346.hp2 HG02258.hp1 HG02886.hp2 NA18942.hp2 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0233 others(5): Show a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0233 a0001c0001t0001g0279 a0001c0001t0002g0212 a0001c0002t0001g0047 a0002c0003t0001g0280 a0002c0003t0001g0313	8	318	0.0252	-10	c.487 others(27): Show c.487-3372_487-3363delTTTTTTTTTT	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP2_chr11_7508999_7658756	7645026	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02717.hp2 HG01192.hp2 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0002 a0002c0003t0001 a0001c0006t0002 a0002c0003t0001	a0001c0006t0002g0213 a0002c0003t0001g0089 a0001c0006t0002g0213 a0002c0003t0001g0089	2	318	0.0063	-10	c.164 others(29): Show c.1646+2624_1646+2633delAAAAAAAAAA	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr11	TogoVar

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