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 genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0034 a0001c0001t0010g0034	1	248	0.0040	15	c.139 others(34): Show c.139-15364_139-15363insATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 NA19240.hp1 HG00140.hp2 HG00642.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0092 a0001c0001t0018g0076 a0001c0001t0018g0077 a0001c0001t0003g0092 a0001c0001t0018g0076 a0001c0001t0018g0077	3	248	0.0121	15	c.139 others(34): Show c.139-15364_139-15363insAAAAAAATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798207	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	248	0.0040	15	c.139 others(34): Show c.139-15365_139-15364insTATATATATATATAT	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65841963	G G	GGCCGCCG others(8): Show GGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0243 a0001c0001t0089g0243	1	248	0.0040	15	c.-47 others(24): Show c.-470_-456dupGGCGGCGGCGGCGGC	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/13	456		chr8	TogoVar
PDE7B_chr6_135846701_136200574	135934940	T T	TATAAATA others(8): Show TATAAATATTTATTTA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18995.hp1 NA19087.hp1 NA18983.hp2 NA18995.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0066 a0001c0001t0004g0078 a0001c0001t0004g0135 a0001c0001t0001g0066 a0001c0001t0004g0078 a0001c0001t0004g0135	3	142	0.0211	15	c.22- others(32): Show c.22-12523_22-12522insTAAATATTTATTTAA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	136191013	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02132.hp2 NA18995.hp1 HG01952.hp2 HG02132.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0032 a0001c0001t0002 a0001c0001t0004 a0001c0001t0032	a0001c0001t0002g0096 a0001c0001t0004g0078 a0001c0001t0032g0029 a0001c0001t0002g0096 a0001c0001t0004g0078 a0001c0001t0032g0029	3	142	0.0211	15	c.112 others(32): Show c.1127-591_1127-577dupTTTTTTTTTTTTTTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8A_chr15_84976856_85144142	85017887	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00558.hp2 others(94): Show HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG01070.hp1 HG01123.hp2 HG01257.hp2 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp2 NA18961.hp1 NA18967.hp2 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0009	a0001c0001 a0001c0004 a0001c0010 others(3): Show a0001c0001 a0001c0004 a0001c0010 a0006c0008 a0007c0009 a0009c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0001 a0001c0010t0001 a0006c0008t0001 a0007c0009t0001 a0009c0012t0001	a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0050 others(94): Show a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0255 a0001c0001t0001g0269 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0339 a0001c0001t0001g0343 a0001c0001t0004g0062 a0001c0001t0005g0145 a0001c0001t0005g0150 a0001c0001t0006g0124 a0001c0004t0001g0057 a0001c0004t0001g0064 a0001c0004t0001g0076 a0001c0010t0001g0086 a0006c0008t0001g0176 a0006c0008t0001g0181 a0007c0009t0001g0140 a0009c0012t0001g0078	97	344	0.2820	15	c.186 others(34): Show c.186+35551_186+35552insAAAAAAAAAAAAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77372201	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02809.hp2 HG03942.hp2 HG02074.hp1 HG02809.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0040 a0001c0001t0005g0198 a0001c0001t0005g0204 a0001c0001t0003g0040 a0001c0001t0005g0198 a0001c0001t0005g0204	3	314	0.0096	15	c.116 others(36): Show c.1167+18810_1167+18824dupCAACAACAACAACAA	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	314	0.0032	15	c.116 others(34): Show c.1168-3212_1168-3198dupTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77423632	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03017.hp1 NA18954.hp2 others(1): Show HG00741.hp2 HG03017.hp1 NA18954.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0043	a0001c0001t0002g0303 a0001c0002t0003g0116 a0001c0002t0004g0254 others(1): Show a0001c0001t0002g0303 a0001c0002t0003g0116 a0001c0002t0004g0254 a0001c0002t0043g0160	4	314	0.0127	15	c.241 others(34): Show c.2418+1657_2418+1671dupTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42654069	T T	TGGGGGGT others(8): Show TGGGGGGTGGGGGGTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0290 a0001c0002t0002g0290	1	324	0.0031	15	c.69+ others(28): Show c.69+193_69+207dupTGGGGGGTGGGGGGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42662646	C C	CCACACCA others(8): Show CCACACCATGCACACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp2 HG03130.hp1 HG02109.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0002 a0001c0001t0008 a0001c0002t0002	a0001c0001t0008g0297 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0001t0008g0297 a0001c0002t0002g0301 a0001c0002t0002g0302	3	324	0.0093	15	c.69+ others(30): Show c.69+8771_69+8785dupTGCACACACACACCA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	324	0.0031	15	c.263 others(32): Show c.263-5145_263-5144insATATATATTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCCCC others(8): Show TCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02647.hp1 HG01106.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0009 a0001c0001t0012 a0001c0002t0009	a0001c0001t0012g0248 a0001c0002t0009g0176 a0001c0001t0012g0248 a0001c0002t0009g0176	2	302	0.0066	15	c.581 others(32): Show c.581-1147_581-1146insGGGGGGGGGGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFA_chr7_492258_524846	506175	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03579.hp1 HG01891.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0101 a0001c0001t0100 a0001c0001t0101	a0001c0001t0100g0266 a0001c0001t0101g0251 a0001c0001t0100g0266 a0001c0001t0101g0251	2	302	0.0066	15	c.453 others(32): Show c.453+4619_453+4633dupTTTTTTTTTTTTTTT	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFA_chr7_492258_524846	508559	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0008 a0001c0002t0045g0008	1	302	0.0033	15	c.453 others(32): Show c.453+2235_453+2249dupTTTTTTTTTTTTTTT	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFB_chr22_39218359_39249982	39228893	A A	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	386	0.0026	15	c.601 others(32): Show c.601+1190_601+1191insATATATTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding	5/6			chr22	TogoVar
PDGFB_chr22_39218359_39249982	39228893	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03704.hp2 HG01099.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0057 a0001c0001t0022g0060 a0001c0001t0003g0057 a0001c0001t0022g0060	2	386	0.0052	15	c.601 others(32): Show c.601+1190_601+1191insATATATATTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding	5/6			chr22	TogoVar
PDGFC_chr4_156755454_156976799	156825587	T T	TAAGAAGA others(8): Show TAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0187 a0001c0001t0007g0187	1	208	0.0048	15	c.315 others(34): Show c.315-14571_315-14570insCTTCTTCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	104009429	C C	CATTATTA others(8): Show CATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	200	0.0050	15	c.125 others(32): Show c.125-9189_125-9175dupAATAATAATAATAAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104144507	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0194	1	200	0.0050	15	c.124 others(34): Show c.124+19282_124+19296dupTTTTTTTTTTTTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01175.hp1 others(17): Show HG00639.hp1 HG00735.hp2 HG01175.hp1 HG02004.hp2 HG02109.hp2 HG02622.hp2 HG04115.hp1 HG06807.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18961.hp2 NA18983.hp1 NA18988.hp2 NA18993.hp1 NA18994.hp2 NA19002.hp1 NA19079.hp2 NA19082.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0265 others(17): Show a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0311 a0001c0002t0001g0251 a0001c0002t0001g0258 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0353 a0002c0003t0001g0263	20	400	0.0500	15	c.-17 others(24): Show c.-171_-170insAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01123.hp1 HG02451.hp2 others(1): Show HG00438.hp1 HG01123.hp1 HG02451.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0305 a0001c0001t0001g0392 a0001c0002t0001g0005 others(1): Show a0001c0001t0001g0305 a0001c0001t0001g0392 a0001c0002t0001g0005 a0001c0004t0001g0366	4	400	0.0100	15	c.353 others(30): Show c.353+477_353+491dupAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDHA1_chrX_19338927_19366718	19339563	A A	ATTGTGTG others(8): Show ATTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0011	1	247	0.0041	15	c.-44 others(26): Show c.-4475_-4474insTTGTGTGTGTGTGTG	PDHA1	ENSG00000131828.14	transcript	ENST00000422285.7	protein_coding		4363		chrX	TogoVar
PDHX_chr11_34911618_35001128	34980352	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	314	0.0032	15	c.102 others(34): Show c.1023+2182_1023+2183insCTTTTTTTTTTTTTT	PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDHX_chr11_34911618_35001128	34980352	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00558.hp1 others(103): Show HG00280.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18940.hp2 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18988.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19072.hp2 NA19078.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp1 NA20300.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0011	a0001c0001 a0001c0018 a0001c0024 others(4): Show a0001c0001 a0001c0018 a0001c0024 a0003c0006 a0004c0022 a0007c0016 a0011c0025	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0018t0001 a0001c0024t0001 a0003c0006t0001 a0004c0022t0015 a0007c0016t0001 a0011c0025t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(93): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0221 a0001c0001t0008g0062 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0011g0115 a0001c0001t0011g0120 a0001c0018t0001g0164 a0001c0024t0001g0116 a0003c0006t0001g0202 a0003c0006t0001g0203 a0003c0006t0001g0204 a0003c0006t0001g0205 a0003c0006t0001g0206 a0003c0006t0001g0207 a0003c0006t0001g0208 a0003c0006t0001g0210 a0003c0006t0001g0211 a0003c0006t0001g0212 a0003c0006t0001g0214 a0004c0022t0015g0143 a0007c0016t0001g0095 a0007c0016t0001g0101 a0011c0025t0001g0215	106	314	0.3376	15	c.102 others(34): Show c.1023+2184_1023+2185insTTTTTTTTTTTTTTT	PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDHX_chr11_34911618_35001128	34995166	T T	TGCCTAGT others(8): Show TGCCTAGTCCTCAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0166 a0001c0021t0002g0166	1	314	0.0032	15	c.150 others(22): Show c.1501_*9dupGCCTAGTCCTCAAAG	PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding	11/11	10	INFO_REALIGN_3_PRIME	chr11	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TTATATAT others(8): Show TTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	332	0.0030	15	c.609 others(32): Show c.609+1086_609+1087insATATATATATATATA	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA6_chr2_10778391_10817785	10788065	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0297 a0001c0003t0016g0297	1	342	0.0029	15	c.998 others(30): Show c.998+617_999-627dupTTTTTTTTTTTTTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	10/12			chr2	TogoVar
PDILT_chr16_20354175_20409737	20402290	A A	ATCTTTTC others(8): Show ATCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01975.hp1 others(44): Show HG00597.hp2 HG00621.hp1 HG01975.hp1 HG01978.hp2 HG02015.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02523.hp1 HG02572.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18947.hp2 NA18960.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19067.hp1 NA19067.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0014 a0015 a0016 a0017	a0001c0001 a0001c0009 a0002c0003 others(6): Show a0001c0001 a0001c0009 a0002c0003 a0002c0004 a0003c0002 a0014c0023 a0015c0025 a0016c0026 a0017c0027	a0001c0001t0001 a0001c0009t0001 a0002c0003t0001 others(6): Show a0001c0001t0001 a0001c0009t0001 a0002c0003t0001 a0002c0004t0001 a0003c0002t0001 a0014c0023t0001 a0015c0025t0001 a0016c0026t0001 a0017c0027t0001	a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0067 others(43): Show a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0111 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0181 a0001c0001t0001g0226 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0291 a0001c0001t0001g0346 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0009t0001g0317 a0001c0009t0001g0318 a0001c0009t0001g0319 a0001c0009t0001g0320 a0002c0003t0001g0394 a0002c0004t0001g0395 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0115 a0003c0002t0001g0133 a0003c0002t0001g0268 a0003c0002t0001g0279 a0003c0002t0001g0280 a0003c0002t0001g0354 a0014c0023t0001g0167 a0015c0025t0001g0097 a0016c0026t0001g0277 a0017c0027t0001g0114	47	406	0.1158	15	c.-8+ others(30): Show c.-8+2191_-8+2205dupAAAGAAAAGAAAAGA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	1/11			chr16	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02280.hp1 HG02922.hp1 others(1): Show HG01074.hp1 HG02280.hp1 HG02922.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0042 a0001c0001t0003g0058 a0001c0001t0003g0004 a0001c0001t0003g0042 a0001c0001t0003g0058	4	258	0.0155	15	c.248 others(32): Show c.248+1694_248+1708dupTTTTTTTTTTTTTTT	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG02155.hp1 others(5): Show HG00621.hp1 HG00621.hp2 HG02155.hp1 HG02155.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0099 others(5): Show a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0308 a0001c0001t0001g0315	8	338	0.0237	15	c.533 others(32): Show c.533+6877_533+6878insCTTTCTTTCTTTCTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95277640	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp2 HG02922.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0166 a0001c0001t0001g0167	2	338	0.0059	15	c.97- others(30): Show c.97-5871_97-5857dupATTTTATTTTATTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	1/6			chr10	TogoVar
PDLIM2_chr8_22575475_22599298	22592068	C C	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03453.hp2 NA19030.hp1 HG03139.hp1 HG03453.hp2 NA19030.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0004 a0011c0014 a0001c0001 a0002c0004 a0011c0014	a0001c0001t0002 a0002c0004t0002 a0011c0014t0006 a0001c0001t0002 a0002c0004t0002 a0011c0014t0006	a0001c0001t0002g0087 a0002c0004t0002g0202 a0011c0014t0006g0274 a0001c0001t0002g0087 a0002c0004t0002g0202 a0011c0014t0006g0274	3	380	0.0079	15	c.881 others(30): Show c.881+413_881+414insCTTTTCTTTTCTTTT	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDLIM3_chr4_185495660_185540507	185497978	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	412	0.0024	15	c.43 others(26): Show c.4315_*4316insTTTTTTTTTTTTTTT	PDLIM3	ENSG00000154553.17	transcript	ENST00000284767.12	protein_coding		2681		chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94478890	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18522.hp2 HG02615.hp1 NA18522.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0015 a0001c0001 a0009c0015	a0001c0001t0002 a0009c0015t0028 a0001c0001t0002 a0009c0015t0028	a0001c0001t0002g0008 a0009c0015t0028g0004 a0001c0001t0002g0008 a0009c0015t0028g0004	2	218	0.0092	15	c.96+ others(32): Show c.96+23519_96+23533dupTTTTTTTTTTTTTTT	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94494429	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0216 a0001c0002t0003g0216	1	218	0.0046	15	c.97- others(32): Show c.97-29293_97-29292insTTTTTTTTTTTTTTT	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94494432	G G	GGTTTTTT others(8): Show GGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0038 a0003c0007t0001g0038	1	218	0.0046	15	c.97- others(32): Show c.97-29292_97-29291insGTTTTTTTTTTTTTT	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	2/12			chr4	TogoVar
PDLIM7_chr5_177478394_177502604	177497008	G G	GGGGGAGG others(8): Show GGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01433.hp2 HG02056.hp1 others(9): Show HG00639.hp2 HG01433.hp2 HG02056.hp1 HG02074.hp2 HG02280.hp2 HG02683.hp1 HG03239.hp1 HG03669.hp1 NA18945.hp1 NA18952.hp1 NA18973.hp1 NA19011.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0004 a0005c0017 a0001c0002 a0001c0004 a0005c0017	a0001c0002t0001 a0001c0004t0001 a0005c0017t0001 a0001c0002t0001 a0001c0004t0001 a0005c0017t0001	a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0159 others(7): Show a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0214 a0001c0004t0001g0160 a0005c0017t0001g0165	12	440	0.0273	15	c.-11 others(30): Show c.-11-486_-11-485insTCCCCTCCCCTCCCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	1/12			chr5	TogoVar
PDP2_chr16_66875515_66896101	66879910	C C	CAATAGGG others(8): Show CAATAGGGTGGCTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0001 a0001c0001t0013g0001	1	356	0.0028	15	c.-78 others(24): Show c.-785_-784insAATAGGGTGGCTGCG	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		604		chr16	TogoVar
PDP2_chr16_66875515_66896101	66881428	T T	TTTTAATT others(8): Show TTTTAATTTAATTTAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0026 a0001c0001t0020g0026	1	356	0.0028	15	c.-55 others(30): Show c.-55+813_-55+827dupATTTAATTTAATTTA	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDPK1_chr16_2533021_2608188	2533430	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01993.hp2 others(8): Show HG00639.hp2 HG01081.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02559.hp1 HG02630.hp2 HG03516.hp2 HG03540.hp1 HG04115.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0121 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0006g0091 a0001c0001t0011g0009 a0001c0001t0011g0132 a0001c0001t0015g0020 a0001c0001t0021g0018 a0001c0001t0027g0151 a0001c0001t0028g0023	11	184	0.0598	15	c.-46 others(26): Show c.-4683_-4682insTTTTTTTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4590		chr16	TogoVar
PDPR_chr16_70109332_70167537	70133421	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(103): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp2 HG02738.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18953.hp2 NA18954.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19086.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0011	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0011c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0022 a0001c0001t0027 a0001c0001t0034 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0056 a0001c0005t0017 a0001c0005t0024 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0013 a0002c0002t0054 a0002c0002t0070 a0003c0003t0003 a0003c0003t0004 a0003c0003t0021 a0003c0003t0048 a0004c0004t0011 a0004c0004t0059 a0005c0007t0002 a0011c0016t0010	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 others(94): Show a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0154 a0001c0001t0002g0167 a0001c0001t0003g0012 a0001c0001t0003g0177 a0001c0001t0003g0182 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0228 a0001c0001t0003g0258 a0001c0001t0004g0004 a0001c0001t0004g0178 a0001c0001t0004g0180 a0001c0001t0004g0185 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0198 a0001c0001t0004g0220 a0001c0001t0004g0230 a0001c0001t0004g0248 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0253 a0001c0001t0007g0014 a0001c0001t0007g0176 a0001c0001t0007g0187 a0001c0001t0007g0199 a0001c0001t0007g0204 a0001c0001t0007g0218 a0001c0001t0008g0151 a0001c0001t0010g0216 a0001c0001t0010g0217 a0001c0001t0019g0153 a0001c0001t0022g0247 a0001c0001t0027g0252 a0001c0001t0034g0173 a0001c0001t0041g0226 a0001c0001t0043g0183 a0001c0001t0044g0186 a0001c0001t0046g0200 a0001c0001t0047g0175 a0001c0001t0050g0193 a0001c0001t0056g0249 a0001c0005t0017g0026 a0001c0005t0024g0024 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0059 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0004g0207 a0002c0002t0006g0039 a0002c0002t0006g0077 a0002c0002t0006g0085 a0002c0002t0006g0092 a0002c0002t0013g0047 a0002c0002t0013g0062 a0002c0002t0054g0224 a0002c0002t0070g0042 a0003c0003t0003g0002 a0003c0003t0003g0122 a0003c0003t0003g0179 a0003c0003t0003g0184 a0003c0003t0003g0190 a0003c0003t0003g0196 a0003c0003t0003g0201 a0003c0003t0003g0202 a0003c0003t0003g0206 a0003c0003t0003g0208 a0003c0003t0003g0209 a0003c0003t0003g0211 a0003c0003t0003g0223 a0003c0003t0003g0225 a0003c0003t0004g0013 a0003c0003t0004g0189 a0003c0003t0004g0219 a0003c0003t0004g0246 a0003c0003t0021g0256 a0003c0003t0048g0013 a0004c0004t0011g0006 a0004c0004t0011g0021 a0004c0004t0059g0019 a0005c0007t0002g0168 a0011c0016t0010g0014	106	289	0.3668	15	c.997 others(32): Show c.997+1134_997+1135insTTTTTTTTTTTTTTT	PDPR	ENSG00000090857.14	transcript	ENST00000288050.9	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDS5A_chr4_39817863_39982911	39909040	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG01255.hp2 others(6): Show HG01074.hp2 HG01175.hp2 HG01255.hp2 HG01978.hp1 HG02145.hp2 HG02723.hp2 NA18747.hp1 NA18942.hp2 NA18983.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0001t0020 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0001t0020 a0001c0002t0003 a0001c0002t0005 a0003c0005t0002	a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0280 others(6): Show a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0280 a0001c0001t0020g0270 a0001c0002t0003g0135 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0005g0204 a0003c0005t0002g0273	9	356	0.0253	15	c.108 others(32): Show c.1088-515_1088-501dupATTTTATTTTATTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39909040	A A	AAAAATAA others(8): Show AAAAATAACATAACAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG02074.hp1 others(37): Show HG00323.hp2 HG00558.hp1 HG02074.hp1 HG02155.hp2 HG02293.hp1 HG02698.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18952.hp1 NA18954.hp1 NA18964.hp1 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA19001.hp1 NA19004.hp1 NA19012.hp2 NA19054.hp2 NA19070.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0008 a0001c0002 a0001c0007 a0001c0008	a0001c0002t0001 a0001c0002t0004 a0001c0007t0004 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0007t0004 a0001c0008t0004	a0001c0002t0001g0043 a0001c0002t0001g0082 a0001c0002t0001g0083 others(37): Show a0001c0002t0001g0043 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0004g0313 a0001c0002t0004g0314 a0001c0002t0004g0315 a0001c0002t0004g0316 a0001c0002t0004g0317 a0001c0002t0004g0318 a0001c0002t0004g0319 a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0004g0322 a0001c0002t0004g0323 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0328 a0001c0002t0004g0329 a0001c0002t0004g0331 a0001c0002t0004g0332 a0001c0002t0004g0333 a0001c0002t0004g0334 a0001c0002t0004g0336 a0001c0002t0004g0338 a0001c0002t0004g0339 a0001c0002t0004g0340 a0001c0002t0004g0341 a0001c0002t0004g0342 a0001c0002t0004g0343 a0001c0002t0004g0344 a0001c0002t0004g0346 a0001c0002t0004g0348 a0001c0002t0004g0349 a0001c0002t0004g0351 a0001c0002t0004g0352 a0001c0002t0004g0353 a0001c0002t0004g0354 a0001c0002t0004g0355 a0001c0007t0004g0330 a0001c0008t0004g0350	40	356	0.1124	15	c.108 others(32): Show c.1088-501_1088-500insATGTTATGTTATTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39923638	A A	AACACACA others(8): Show AACACACACACACAAC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18998.hp2 NA18956.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0138 a0001c0002t0008g0306 a0001c0002t0003g0138 a0001c0002t0008g0306	2	356	0.0056	15	c.528 others(30): Show c.528-891_528-890insGTTGTGTGTGTGTGT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	5/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39945458	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG02074.hp1 others(8): Show HG00099.hp2 HG00558.hp1 HG02074.hp1 HG02698.hp1 HG03669.hp2 HG04115.hp2 NA18940.hp1 NA18944.hp2 NA18967.hp1 NA18974.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0043 a0001c0002t0004g0318 a0001c0002t0004g0319 others(8): Show a0001c0002t0001g0043 a0001c0002t0004g0318 a0001c0002t0004g0319 a0001c0002t0004g0326 a0001c0002t0004g0327 a0001c0002t0004g0332 a0001c0002t0004g0333 a0001c0002t0004g0334 a0001c0002t0004g0338 a0001c0002t0004g0352 a0001c0002t0004g0354	11	356	0.0309	15	c.139 others(34): Show c.139-17309_139-17295dupTTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39949821	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp2 others(68): Show HG00099.hp1 HG00140.hp1 HG00544.hp2 HG00558.hp2 HG00673.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02258.hp2 HG02300.hp2 HG02523.hp1 HG02698.hp2 HG02886.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03654.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18967.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010	a0001c0001t0002 a0001c0001t0006 a0001c0001t0020 others(15): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0020 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025 a0001c0009t0003 a0001c0010t0007	a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0195 others(68): Show a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0288 a0001c0001t0006g0287 a0001c0001t0020g0270 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0256 a0001c0002t0002g0285 a0001c0002t0002g0296 a0001c0002t0003g0123 a0001c0002t0003g0139 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0153 a0001c0002t0003g0165 a0001c0002t0003g0173 a0001c0002t0005g0202 a0001c0002t0005g0203 a0001c0002t0005g0205 a0001c0002t0005g0206 a0001c0002t0005g0207 a0001c0002t0005g0208 a0001c0002t0005g0209 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0212 a0001c0002t0005g0253 a0001c0002t0005g0254 a0001c0002t0005g0255 a0001c0002t0005g0257 a0001c0002t0005g0258 a0001c0002t0005g0260 a0001c0002t0005g0261 a0001c0002t0005g0262 a0001c0002t0005g0265 a0001c0002t0005g0267 a0001c0002t0005g0281 a0001c0002t0005g0282 a0001c0002t0005g0283 a0001c0002t0005g0284 a0001c0002t0005g0293 a0001c0002t0005g0294 a0001c0002t0005g0297 a0001c0002t0008g0302 a0001c0002t0008g0303 a0001c0002t0008g0304 a0001c0002t0008g0308 a0001c0002t0008g0310 a0001c0002t0008g0311 a0001c0002t0009g0066 a0001c0002t0009g0068 a0001c0002t0009g0103 a0001c0002t0012g0312 a0001c0002t0012g0345 a0001c0002t0017g0114 a0001c0002t0018g0125 a0001c0002t0019g0120 a0001c0002t0021g0215 a0001c0002t0022g0298 a0001c0002t0024g0305 a0001c0002t0025g0356 a0001c0009t0003g0151 a0001c0010t0007g0111	71	356	0.1994	15	c.139 others(34): Show c.139-21658_139-21657insTTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32635170	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	334	0.0030	15	c.-19 others(34): Show c.-19-13553_-19-13539dupTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0308 a0001c0001t0008g0308	1	334	0.0030	15	c.313 others(32): Show c.313-2864_313-2863insATATATATATATTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar

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