Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDE6A_chr5_149852953_149949793	149876926	G G	GATAGATA others(21): Show GATAGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0032 a0004c0026t0032	a0004c0026t0032g0203 a0004c0026t0032g0203	1	328	0.0031	28	c.213 others(47): Show c.2135+6502_2135+6503insGTATCTATCTATCTATCTATCTATCT AT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	17/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149900375	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01358.hp2 others(28): Show HG01257.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02486.hp1 HG02615.hp2 HG03017.hp1 HG03239.hp2 HG03492.hp2 HG03831.hp2 HG06807.hp2 NA18747.hp1 NA18941.hp1 NA18946.hp2 NA18951.hp2 NA18959.hp1 NA18960.hp2 NA18992.hp1 NA19009.hp1 NA19056.hp1 NA19060.hp1 NA19077.hp2 NA19087.hp1 NA20805.hp2	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0016 a0003c0007 a0016c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0028 a0001c0001t0080 a0001c0002t0001 a0001c0002t0022 a0001c0002t0064 a0001c0006t0024 a0001c0009t0056 a0001c0016t0008 a0003c0007t0016 a0016c0021t0022	a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0045 others(28): Show a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0086 a0001c0001t0003g0005 a0001c0001t0004g0093 a0001c0001t0005g0047 a0001c0001t0009g0071 a0001c0001t0010g0077 a0001c0001t0010g0102 a0001c0001t0011g0098 a0001c0001t0015g0048 a0001c0001t0028g0094 a0001c0001t0080g0201 a0001c0002t0001g0235 a0001c0002t0001g0242 a0001c0002t0022g0232 a0001c0002t0064g0282 a0001c0006t0024g0049 a0001c0009t0056g0109 a0001c0016t0008g0241 a0003c0007t0016g0315 a0016c0021t0022g0036	31	328	0.0945	28	c.111 others(45): Show c.1114-852_1114-851insTATATATATATATATATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149900385	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19000.hp1 NA18939.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0034 a0001c0001t0013g0072 a0001c0001t0005g0034 a0001c0001t0013g0072	2	328	0.0061	28	c.111 others(45): Show c.1114-862_1114-861insCATATATATATATATATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149900393	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	328	0.0031	28	c.111 others(45): Show c.1114-870_1114-869insCATATATATATATATATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149906519	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0004 a0008c0020t0004	a0008c0020t0004g0143 a0008c0020t0004g0143	1	328	0.0031	28	c.106 others(45): Show c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	7/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149920942	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18977.hp1 HG00438.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0003g0084 a0001c0001t0001g0081 a0001c0001t0003g0084	2	328	0.0061	28	c.933 others(43): Show c.933+665_933+692dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	5/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0325 a0001c0005t0006g0325	1	328	0.0031	28	c.858 others(45): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149936158	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02451.hp2 others(5): Show HG01884.hp1 HG02109.hp1 HG02451.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0002c0012 a0001c0004 a0002c0003 a0002c0012	a0001c0004t0019 a0002c0003t0001 a0002c0003t0011 others(4): Show a0001c0004t0019 a0002c0003t0001 a0002c0003t0011 a0002c0003t0026 a0002c0003t0043 a0002c0012t0006 a0002c0012t0018	a0001c0004t0019g0199 a0001c0004t0019g0200 a0002c0003t0001g0213 others(5): Show a0001c0004t0019g0199 a0001c0004t0019g0200 a0002c0003t0001g0213 a0002c0003t0011g0217 a0002c0003t0026g0215 a0002c0003t0043g0214 a0002c0012t0006g0212 a0002c0012t0018g0216	8	328	0.0244	28	c.475 others(45): Show c.475-1468_475-1441dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	1/21			chr5	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0038 a0001c0001t0041g0038	1	248	0.0040	28	c.139 others(47): Show c.139-15364_139-15363insAATATATATATATATATATATATATA TA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7B_chr6_135846701_136200574	135935186	T T	TTTTATAT others(21): Show TTTTATATATATATATTTATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	142	0.0070	28	c.22- others(45): Show c.22-12277_22-12276insTTATATATATATATTTATATATATATAT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	136020719	A A	AGCAAACT others(21): Show AGCAAACTCCATCTGTTTGCTATGGTCTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18983.hp2 NA18995.hp1 others(1): Show HG03942.hp2 NA18983.hp2 NA18995.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0004g0078 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0004g0078 a0001c0001t0004g0135	4	142	0.0282	28	c.82+ others(45): Show c.82+73195_82+73196insGCAAACTCCATCTGTTTGCTATGGTCTC	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	2/12			chr6	TogoVar
PDE7B_chr6_135846701_136200574	136134672	C C	CCAACCCT others(21): Show CCAACCCTGAACCCCGGATGTCAGAGATT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG01952.hp2 others(15): Show HG01496.hp2 HG01891.hp1 HG01952.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp1 NA18906.hp1 NA18906.hp2 NA18953.hp1 NA18979.hp2 NA18982.hp1 NA19240.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0003c0005 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0026 a0001c0001t0033 a0001c0002t0004 a0001c0002t0010 a0001c0002t0016 a0001c0002t0021 a0001c0006t0028 a0003c0005t0014 a0003c0005t0020 a0003c0007t0014	a0001c0001t0001g0025 a0001c0001t0002g0007 a0001c0001t0002g0096 others(15): Show a0001c0001t0001g0025 a0001c0001t0002g0007 a0001c0001t0002g0096 a0001c0001t0005g0012 a0001c0001t0005g0020 a0001c0001t0008g0043 a0001c0001t0008g0075 a0001c0001t0026g0119 a0001c0001t0033g0055 a0001c0002t0004g0008 a0001c0002t0010g0017 a0001c0002t0010g0069 a0001c0002t0016g0003 a0001c0002t0021g0068 a0001c0006t0028g0032 a0003c0005t0014g0028 a0003c0005t0020g0140 a0003c0007t0014g0067	18	142	0.1268	28	c.167 others(47): Show c.167-12672_167-12645dupTGAACCCCGGATGTCAGAGATTCAAC CC	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	136148466	A A	AAGGCAGG others(21): Show AAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02486.hp2 HG02572.hp1 others(11): Show HG00741.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02886.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03834.hp2 HG06807.hp1 NA18982.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0035 a0001c0001t0040 a0001c0003t0006	a0001c0001t0001g0019 a0001c0001t0001g0089 a0001c0001t0002g0023 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0089 a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0059 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0003g0033 a0001c0001t0006g0116 a0001c0001t0015g0093 a0001c0001t0035g0054 a0001c0001t0040g0015 a0001c0003t0006g0021	14	142	0.0986	28	c.319 others(43): Show c.319-618_319-617insCAGGCAGGCAGGCAGGCAGGCAGGCAGG	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	136148470	A A	AAGGCAGG others(21): Show AAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0004 a0001c0001t0034g0004	1	142	0.0070	28	c.319 others(43): Show c.319-615_319-588dupGGCAGGCAGGCAGGCAGGCAGGCAGGCA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	136191013	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0034 a0001c0001t0031g0034	1	142	0.0070	28	c.112 others(45): Show c.1127-577_1127-576insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp1 HG01516.hp2 others(8): Show HG00323.hp2 HG01261.hp1 HG01516.hp2 HG01517.hp1 HG02155.hp2 HG02486.hp1 HG02738.hp2 HG03927.hp2 NA19054.hp2 NA19086.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0093 others(8): Show a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0272 a0001c0001t0001g0342 a0001c0002t0001g0315	11	344	0.0320	28	c.173 others(47): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02083.hp1 HG00438.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0111 a0001c0001t0002g0115	2	314	0.0064	28	c.116 others(47): Show c.1168-3198_1168-3197insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42653539	A A	AGGGGGGA others(21): Show AGGGGGGAGGGGGAGGGGGGGAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0322 a0001c0002t0001g0322	1	324	0.0031	28	c.-27 others(37): Show c.-276_-275insGGGGGGAGGGGGAGGGGGGGAGGGGGAG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		81		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	324	0.0031	28	c.263 others(45): Show c.263-5145_263-5144insATATATATATATATATATATATTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	324	0.0031	28	c.263 others(45): Show c.263-5145_263-5144insATATATATATATATATATATTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp2 HG01516.hp1 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0042 a0001c0003t0003g0022 a0001c0002t0001g0042 a0001c0003t0003g0022	2	324	0.0062	28	c.263 others(45): Show c.263-5145_263-5144insATATATATATATATATATTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	324	0.0031	28	c.263 others(45): Show c.263-5145_263-5144insATATATATATATATTTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFC_chr4_156755454_156976799	156824327	T T	TATATATA others(21): Show TATATATATATATACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG04184.hp1 NA18964.hp2 HG03491.hp2 HG04184.hp1 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0040 a0001c0002t0002g0167 a0001c0002t0002g0034 a0001c0002t0002g0040 a0001c0002t0002g0167	3	208	0.0144	28	c.315 others(47): Show c.315-13311_315-13310insGTATGTGTATATGTGTATATATATAT AT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156960252	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	208	0.0048	28	c.118 others(47): Show c.118+10533_118+10534insTATATATATATATATATATATATATA TA	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	104082133	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(23): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00738.hp2 HG00741.hp1 HG02040.hp1 HG02109.hp2 HG02129.hp2 HG02451.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 NA18957.hp2 NA18966.hp1 NA18970.hp2 NA18979.hp1 NA19012.hp1 NA19065.hp1 NA19077.hp2 NA19081.hp1 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0014	a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0040 others(23): Show a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0040 a0001c0001t0002g0056 a0001c0001t0002g0077 a0001c0001t0002g0085 a0001c0001t0002g0098 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0151 a0001c0001t0003g0010 a0001c0001t0003g0082 a0001c0001t0021g0199 a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0043 a0001c0002t0001g0050 a0001c0002t0001g0083 a0001c0002t0001g0136 a0001c0002t0001g0144 a0001c0002t0001g0168 a0001c0002t0001g0190 a0001c0002t0004g0026 a0001c0002t0005g0025 a0001c0002t0014g0198	26	200	0.1300	28	c.124 others(47): Show c.124+81670_124+81671insATATATATATATATATATATATATAT AT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104082137	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp2 HG03579.hp2 HG02630.hp1 HG03209.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0002t0005 a0001c0001t0003 a0001c0002t0004 a0001c0002t0005	a0001c0001t0003g0074 a0001c0002t0004g0096 a0001c0002t0005g0094 a0001c0001t0003g0074 a0001c0002t0004g0096 a0001c0002t0005g0094	3	200	0.0150	28	c.124 others(47): Show c.124+81666_124+81667insATATATATATATATATATATATATAT AT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	400	0.0025	28	c.-17 others(37): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01175.hp2 others(11): Show HG00323.hp1 HG00738.hp1 HG01175.hp2 HG01192.hp1 HG01981.hp2 HG02055.hp1 NA18979.hp1 NA18990.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0008c0013 a0009c0008	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0008c0013t0001 a0009c0008t0001	a0001c0001t0001g0110 a0001c0001t0001g0156 a0001c0001t0001g0157 others(11): Show a0001c0001t0001g0110 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0278 a0001c0002t0001g0111 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0381 a0001c0002t0001g0397 a0002c0003t0001g0279 a0008c0013t0001g0079 a0009c0008t0001g0210	14	400	0.0350	28	c.353 others(43): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(21): Show TCCCCGCCCCCCCCCACCCCCCCCCCACC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	400	0.0025	28	c.940 others(43): Show c.940-710_940-709insCCCCCCCACCCCCCCCCCACCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(21): Show TCCCCGCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	400	0.0025	28	c.940 others(43): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(21): Show TCCCCGCCCGCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	400	0.0025	28	c.940 others(43): Show c.940-710_940-709insCGCCCCCCCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA2_chr16_278164_292215	286073	G G	GTCCCTCC others(21): Show GTCCCTCCCCCCACCAAACCCCACAGTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(92): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18950.hp1 NA18959.hp2 NA18967.hp2 NA18970.hp1 NA18979.hp2 NA18994.hp1 NA18995.hp2 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp1	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0005 a0007 a0010 a0014 a0017 a0021 a0022 a0023 a0025	a0001c0001 a0003c0003 a0003c0008 others(14): Show a0001c0001 a0003c0003 a0003c0008 a0003c0057 a0004c0004 a0004c0017 a0005c0006 a0005c0015 a0007c0007 a0010c0018 a0014c0059 a0014c0060 a0017c0054 a0021c0029 a0022c0044 a0023c0034 a0025c0041	a0001c0001t0001 a0003c0003t0001 a0003c0008t0001 others(14): Show a0001c0001t0001 a0003c0003t0001 a0003c0008t0001 a0003c0057t0001 a0004c0004t0001 a0004c0017t0001 a0005c0006t0001 a0005c0015t0001 a0007c0007t0001 a0010c0018t0001 a0014c0059t0001 a0014c0060t0001 a0017c0054t0001 a0021c0029t0001 a0022c0044t0001 a0023c0034t0001 a0025c0041t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0083 others(52): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0133 a0001c0001t0001g0168 a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0045 a0003c0003t0001g0072 a0003c0003t0001g0124 a0003c0003t0001g0130 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0142 a0003c0008t0001g0024 a0003c0008t0001g0047 a0003c0008t0001g0143 a0003c0008t0001g0144 a0003c0008t0001g0177 a0003c0057t0001g0047 a0004c0004t0001g0010 a0004c0004t0001g0016 a0004c0004t0001g0017 a0004c0004t0001g0067 a0004c0004t0001g0129 a0004c0004t0001g0132 a0004c0004t0001g0134 a0004c0017t0001g0017 a0004c0017t0001g0044 a0004c0017t0001g0128 a0005c0006t0001g0004 a0005c0006t0001g0009 a0005c0015t0001g0004 a0007c0007t0001g0046 a0007c0007t0001g0048 a0007c0007t0001g0135 a0007c0007t0001g0138 a0007c0007t0001g0141 a0007c0007t0001g0145 a0007c0007t0001g0146 a0010c0018t0001g0020 a0010c0018t0001g0054 a0014c0059t0001g0127 a0014c0060t0001g0131 a0017c0054t0001g0004 a0021c0029t0001g0016 a0022c0044t0001g0071 a0023c0034t0001g0010 a0025c0041t0001g0105	95	436	0.2179	28	c.112 others(45): Show c.1120-266_1120-239dupCAAACCCCACAGTTCTCCCTCCCCCCAC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	286087	C C	CAAACCCC others(21): Show CAAACCCCACAGTTCTCCCTCCCCCCACT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	436	0.0023	28	c.112 others(45): Show c.1120-247_1120-220dupTCCCCCCACTAAACCCCACAGTTCTCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA5_chr3_123062025_123167104	123072912	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01884.hp1 HG03688.hp2 HG01515.hp2 HG01884.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0003t0001g0285 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0003t0001g0285	3	332	0.0090	28	c.42+ others(43): Show c.42+5710_42+5737dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02559.hp1 others(10): Show HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02896.hp1 HG02976.hp1 HG03139.hp1 HG03579.hp2 NA18906.hp1 NA18999.hp2 NA19003.hp1 NA19068.hp1 NA19084.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0082 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0082 a0001c0001t0001g0122 a0001c0001t0001g0186 a0001c0001t0001g0323 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0003t0001g0012 a0001c0003t0001g0052 a0001c0003t0001g0224 a0001c0005t0001g0126	13	332	0.0392	28	c.609 others(45): Show c.609+1101_609+1102insATATATATATATATATATATATATATAT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA5_chr3_123062025_123167104	123152111	T T	TCCTTCCT others(21): Show TCCTTCCTTCCTGCCTTCCTTCCTGCCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00673.hp2 others(38): Show HG00140.hp1 HG00597.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG02056.hp1 HG02071.hp2 HG02135.hp1 HG02451.hp2 HG03017.hp1 HG03041.hp2 HG03490.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18962.hp1 NA18971.hp1 NA18972.hp2 NA18983.hp1 NA18986.hp1 NA18997.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp2 NA19067.hp2 NA19074.hp1 NA19080.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0004c0011	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0004c0011t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0021 others(36): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0276 a0001c0003t0001g0027 a0001c0003t0001g0071 a0001c0003t0001g0077 a0001c0003t0001g0086 a0001c0003t0001g0091 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0137 a0001c0003t0001g0147 a0001c0003t0001g0231 a0001c0003t0001g0314 a0001c0005t0001g0145 a0001c0005t0001g0173 a0004c0011t0001g0244	41	332	0.1235	28	c.127 others(47): Show c.1273+1758_1273+1759insGCCTTCCTTCCTGCCTGCCTTCCTTC CT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDILT_chr16_20354175_20409737	20408194	T T	TCCAGAGT others(21): Show TCCAGAGTAGCTGGGACTACAGGCGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	406	0.0025	28	c.-37 others(39): Show c.-3707_-3706insTGGGCGCCTGTAGTCCCAGCTACTCTGG	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding		3458		chr16	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02818.hp1 HG03130.hp1 others(1): Show HG01071.hp1 HG02818.hp1 HG03130.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 a0001c0001t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0001g0225 a0001c0001t0001g0323 a0001c0001t0004g0277 others(1): Show a0001c0001t0001g0225 a0001c0001t0001g0323 a0001c0001t0004g0277 a0002c0003t0001g0267	4	338	0.0118	28	c.533 others(45): Show c.533+6850_533+6877dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95257038	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	338	0.0030	28	c.533 others(45): Show c.533+6825_533+6826insATTTTTTTCTTTCTTTCTTTCTTTCTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM2_chr8_22575475_22599298	22599224	C C	CTCCCCTC others(21): Show CTCCCCTCCCTCTCCCCTCCCCACCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0303 a0001c0002t0002g0305 a0001c0002t0002g0303 a0001c0002t0002g0305	2	380	0.0053	28	c.53 others(39): Show c.5314_*5315insTCCCCTCCCTCTCCCCTCCCCACCCTCT	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding		4927		chr8	TogoVar
PDLIM5_chr4_94446942_94673223	94542307	C C	CAAATAAA others(21): Show CAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02738.hp2 homoSapiens_chm13v2.hp1 HG02735.hp1 HG02738.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0013 a0001c0006t0006 a0001c0006t0013	a0001c0006t0006g0097 a0001c0006t0013g0060 a0001c0006t0013g0099 a0001c0006t0006g0097 a0001c0006t0013g0060 a0001c0006t0013g0099	3	218	0.0138	28	c.248 others(47): Show c.248+18459_248+18460insTAAATAAATAAATAAATAAATAAATA AA	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDPK1_chr16_2533021_2608188	2533430	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	184	0.0054	28	c.-46 others(39): Show c.-4683_-4682insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4590		chr16	TogoVar
PDS5A_chr4_39817863_39982911	39830829	C C	CAGAGAGG others(21): Show CAGAGAGGAAAACCGAGAGATAGATCAGA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0306 a0001c0002t0008g0306	1	356	0.0028	28	c.401 others(47): Show c.4011-5342_4011-5341insTCTGATCTATCTCTCGGTTTTCCTCT CT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	32/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842903	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0354 a0001c0002t0004g0354	1	356	0.0028	28	c.354 others(45): Show c.3549-848_3549-847insTATATATATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842907	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	356	0.0028	28	c.354 others(45): Show c.3549-852_3549-851insTATATATATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18952.hp2 NA18999.hp2 others(2): Show HG01109.hp1 NA18952.hp2 NA18999.hp2 NA19043.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0063 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0063 a0001c0001t0002g0246 a0001c0001t0006g0287	5	356	0.0140	28	c.354 others(45): Show c.3549-881_3549-854dupTATATATATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39909051	A A	AACATAAA others(21): Show AACATAAAATAAAATAAAATAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp1 HG02602.hp2 others(2): Show HG00099.hp2 HG01175.hp1 HG02602.hp2 NA18966.hp1 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0004g0327 others(2): Show a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0004g0327 a0001c0002t0004g0337 a0001c0002t0004g0347	5	356	0.0140	28	c.108 others(45): Show c.1088-512_1088-511insATTTTATTTATTTTATTTTATTTTATGT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655359	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	334	0.0030	28	c.313 others(45): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0316 a0001c0001t0004g0316	1	334	0.0030	28	c.313 others(45): Show c.313-2864_313-2863insATATATATATATATATATATATATATTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0294 a0001c0001t0016g0294	1	334	0.0030	28	c.313 others(45): Show c.313-2864_313-2863insATATATATATATATATATATATATTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar

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