Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCSK5_chr9_75885673_76367975	76273596	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0014 a0014	a0014c0087 a0014c0087	a0014c0087t0040 a0014c0087t0040	a0014c0087t0040g0098 a0014c0087t0040g0098	1	163	0.0061	29	c.314 others(50): Show c.3143-18637_3143-18636insATATATATATATATATATATATAT ATATA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	24/37			chr9	TogoVar
PCYOX1_chr2_70253137_70286185	70283096	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	246	0.0041	29	c.57 others(40): Show c.5704_*5705insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PCYOX1	ENSG00000116005.12	transcript	ENST00000433351.7	protein_coding		1912		chr2	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0192 a0001c0002t0035g0192	1	119	0.0084	29	c.117 others(46): Show c.117+9497_117+9498insATATATATATATATATATATTTTTTTTT T	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0090 a0001c0002t0090	a0001c0002t0090g0173 a0001c0002t0090g0173	1	119	0.0084	29	c.117 others(46): Show c.117+9497_117+9498insATATATATATATATATATATATATTTTT T	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18957.hp1 NA19076.hp1 NA18747.hp1 NA18957.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0020 a0001c0001t0023 a0001c0001t0010 a0001c0001t0020 a0001c0001t0023	a0001c0001t0010g0159 a0001c0001t0020g0023 a0001c0001t0023g0007 a0001c0001t0010g0159 a0001c0001t0020g0023 a0001c0001t0023g0007	3	121	0.0248	29	c.117 others(46): Show c.117+9497_117+9498insATATATATATATATATATATATATATTT T	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	119	0.0084	29	c.117 others(46): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT T	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24648449	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0188 a0001c0002t0003g0188	1	57	0.0175	29	c.-13 others(40): Show c.-1345_-1344insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding		1103		chrX	TogoVar
PC_chr11_66843420_66963383	66959935	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	167	0.0060	29	c.-18 others(40): Show c.-1842_-1841insAAAAAAAAAAAAATATATATATATATATA	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding		1553		chr11	TogoVar
PDCD5_chr19_32576190_32592453	32585538	G G	GGGCAGTC others(22): Show GGGCAGTCATATATTTTAAGGCTTTCCAGA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	420	0.0024	29	c.167 others(44): Show c.167-259_167-258insGCTTTCCAGAGGCAGTCATATATTTTAAG	PDCD5	ENSG00000105185.12	transcript	ENST00000590247.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
PDCL2_chr4_55551519_55597245	55591212	A A	AAAATCCC others(22): Show AAAATCCCCGTGGTTTTAATCTGCAGGAGC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	374	0.0027	29	c.6+8 others(40): Show c.6+891_6+892insGCTCCTGCAGATTAAAACCACGGGGATTT	PDCL2	ENSG00000163440.12	transcript	ENST00000295645.9	protein_coding	1/5			chr4	TogoVar
PDE11A_chr2_177618244_178077777	177819860	T T	TTCTCTTC others(22): Show TTCTCTTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0063 a0001c0001t0014g0063	1	83	0.0120	29	c.157 others(46): Show c.1576+359_1576+360insGAGAGAGAGAGAGAGAGAGAGAGAAGAG A	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	7/19			chr2	TogoVar
PDE3A_chr12_20363537_20693583	20367070	T T	TTTCTCAT others(22): Show TTTCTCATATCTACTTATGTCATAATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp2 others(57): Show HG00099.hp2 HG00323.hp2 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03098.hp1 HG03471.hp1 HG03490.hp1 HG03516.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18968.hp2 NA19030.hp2 NA19065.hp1 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0007 a0005c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047 a0001c0001t0052 a0001c0001t0055 a0001c0001t0065 a0001c0001t0082 a0001c0001t0085 a0001c0001t0089 a0001c0001t0094 a0001c0001t0097 a0001c0001t0098 a0001c0001t0105 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0148 a0001c0003t0036 a0001c0003t0049 a0001c0003t0059 a0002c0002t0003 a0002c0002t0061 a0002c0002t0063 a0002c0002t0117 a0002c0002t0131 a0002c0002t0132 a0002c0002t0138 a0002c0004t0134 a0002c0007t0075 a0005c0018t0103	a0001c0001t0001g0072 a0001c0001t0001g0126 a0001c0001t0001g0174 others(57): Show a0001c0001t0001g0072 a0001c0001t0001g0126 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0125 a0001c0001t0005g0009 a0001c0001t0006g0042 a0001c0001t0006g0131 a0001c0001t0008g0173 a0001c0001t0011g0024 a0001c0001t0011g0037 a0001c0001t0012g0043 a0001c0001t0012g0147 a0001c0001t0015g0140 a0001c0001t0016g0118 a0001c0001t0018g0149 a0001c0001t0020g0078 a0001c0001t0021g0018 a0001c0001t0021g0188 a0001c0001t0028g0168 a0001c0001t0029g0038 a0001c0001t0031g0007 a0001c0001t0032g0004 a0001c0001t0033g0139 a0001c0001t0035g0016 a0001c0001t0040g0127 a0001c0001t0041g0175 a0001c0001t0047g0158 a0001c0001t0052g0196 a0001c0001t0055g0178 a0001c0001t0065g0062 a0001c0001t0082g0170 a0001c0001t0085g0002 a0001c0001t0089g0094 a0001c0001t0094g0190 a0001c0001t0097g0098 a0001c0001t0098g0088 a0001c0001t0105g0022 a0001c0001t0143g0102 a0001c0001t0144g0138 a0001c0001t0145g0079 a0001c0001t0146g0121 a0001c0001t0148g0048 a0001c0003t0036g0008 a0001c0003t0049g0142 a0001c0003t0059g0154 a0002c0002t0003g0045 a0002c0002t0003g0160 a0002c0002t0061g0171 a0002c0002t0063g0111 a0002c0002t0117g0195 a0002c0002t0131g0137 a0002c0002t0132g0055 a0002c0002t0138g0035 a0002c0004t0134g0003 a0002c0007t0075g0181 a0005c0018t0103g0005	60	196	0.3061	29	c.-22 others(40): Show c.-2215_-2214insTTCTCATATCTACTTATGTCATAATATTA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding		1466		chr12	TogoVar
PDE3A_chr12_20363537_20693583	20395496	T T	TACATAGT others(22): Show TACATAGTATAATATGTATACTATGTGTAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01071.hp2 others(26): Show HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01934.hp2 HG02145.hp1 HG02572.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03490.hp1 HG03831.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18952.hp1 NA19043.hp2 NA19081.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0008c0010 a0009c0015	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(25): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0051 a0001c0001t0054 a0001c0001t0068 a0001c0001t0079 a0001c0001t0081 a0001c0001t0084 a0001c0001t0088 a0001c0001t0090 a0001c0001t0094 a0001c0001t0101 a0001c0001t0147 a0001c0003t0038 a0002c0002t0061 a0002c0002t0108 a0002c0002t0114 a0002c0002t0123 a0002c0002t0126 a0002c0002t0136 a0002c0004t0128 a0008c0010t0010 a0009c0015t0008	a0001c0001t0004g0077 a0001c0001t0005g0009 a0001c0001t0007g0027 others(26): Show a0001c0001t0004g0077 a0001c0001t0005g0009 a0001c0001t0007g0027 a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0044g0061 a0001c0001t0046g0011 a0001c0001t0047g0158 a0001c0001t0051g0163 a0001c0001t0054g0172 a0001c0001t0068g0117 a0001c0001t0079g0198 a0001c0001t0081g0167 a0001c0001t0084g0089 a0001c0001t0088g0166 a0001c0001t0090g0090 a0001c0001t0094g0190 a0001c0001t0101g0165 a0001c0001t0147g0041 a0001c0003t0038g0192 a0002c0002t0061g0171 a0002c0002t0108g0164 a0002c0002t0114g0026 a0002c0002t0123g0161 a0002c0002t0126g0112 a0002c0002t0136g0010 a0002c0004t0128g0060 a0008c0010t0010g0031 a0009c0015t0008g0059	29	191	0.1518	29	c.960 others(48): Show c.960+25292_960+25320dupATATGTATACTATGTGTACACATAGT ATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0009 a0009	a0009c0032 a0009c0032	a0009c0032t0001 a0009c0032t0001	a0009c0032t0001g0264 a0009c0032t0001g0264	1	69	0.0145	29	c.858 others(46): Show c.858+2796_858+2797insAAAAAAAAATATATATATATATATATAT A	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 NA18906.hp1 HG02451.hp2 HG02970.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0012 a0002c0003 a0002c0012	a0002c0003t0001 a0002c0003t0037 a0002c0012t0005 a0002c0003t0001 a0002c0003t0037 a0002c0012t0005	a0002c0003t0001g0212 a0002c0003t0037g0213 a0002c0012t0005g0218 a0002c0003t0001g0212 a0002c0003t0037g0213 a0002c0012t0005g0218	3	71	0.0423	29	c.858 others(46): Show c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATATATAT A	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6B_chr4_620573_675782	642725	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0064 a0011c0020t0001g0064	1	176	0.0057	29	c.711 others(46): Show c.711+6781_711+6782insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	651973	A A	AGCTCCAT others(22): Show AGCTCCATGACTGTGACTGCGGCCAGGGCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	306	0.0033	29	c.712 others(46): Show c.712-1872_712-1844dupTGACTGTGACTGCGGCCAGGGCGGCTCC A	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	651984	T T	TGTGACTG others(22): Show TGTGACTGCAGCCAGGGCGGCTCCACGACG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01070.hp2 others(2): Show HG00642.hp1 HG00741.hp2 HG01070.hp2 HG02109.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0169 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0169 a0001c0001t0002g0168 a0001c0001t0006g0022	5	35	0.1429	29	c.712 others(46): Show c.712-1860_712-1859insAGCCAGGGCGGCTCCACGACGGTGACTG C	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	651984	T T	TGTGACTG others(22): Show TGTGACTGCGGCCAGGGCGGCTCCACGACG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(238): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0013 a0017	a0001c0001 a0001c0002 a0001c0004 others(20): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0012 a0001c0015 a0001c0017 a0001c0022 a0001c0024 a0001c0026 a0001c0029 a0002c0003 a0003c0006 a0003c0010 a0004c0007 a0005c0011 a0006c0013 a0007c0027 a0008c0028 a0011c0020 a0013c0016 a0017c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 a0001c0005t0001 a0001c0009t0009 a0001c0012t0003 a0001c0015t0002 a0001c0017t0004 a0001c0022t0002 a0001c0024t0002 a0001c0026t0001 a0001c0029t0001 a0002c0003t0005 a0003c0006t0001 a0003c0006t0002 a0003c0006t0007 a0003c0010t0002 a0003c0010t0003 a0004c0007t0008 a0005c0011t0001 a0006c0013t0010 a0007c0027t0002 a0008c0028t0008 a0011c0020t0001 a0013c0016t0001 a0017c0030t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(206): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0090 a0001c0001t0003g0102 a0001c0001t0003g0128 a0001c0001t0003g0140 a0001c0001t0003g0171 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0004g0093 a0001c0001t0004g0181 a0001c0001t0004g0186 a0001c0001t0004g0210 a0001c0001t0005g0141 a0001c0001t0005g0250 a0001c0001t0006g0049 a0001c0001t0006g0125 a0001c0001t0006g0223 a0001c0001t0006g0240 a0001c0001t0007g0143 a0001c0001t0011g0046 a0001c0001t0013g0002 a0001c0001t0014g0123 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0083 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0036 a0001c0002t0004g0062 a0001c0002t0004g0094 a0001c0004t0001g0038 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0067 a0001c0004t0001g0069 a0001c0004t0001g0091 a0001c0004t0001g0096 a0001c0005t0001g0245 a0001c0005t0001g0246 a0001c0005t0001g0247 a0001c0009t0009g0053 a0001c0009t0009g0248 a0001c0009t0009g0249 a0001c0012t0003g0031 a0001c0012t0003g0032 a0001c0015t0002g0005 a0001c0017t0004g0037 a0001c0022t0002g0150 a0001c0024t0002g0047 a0001c0026t0001g0007 a0001c0029t0001g0033 a0002c0003t0005g0253 a0002c0003t0005g0254 a0002c0003t0005g0255 a0002c0003t0005g0256 a0002c0003t0005g0257 a0002c0003t0005g0258 a0002c0003t0005g0259 a0002c0003t0005g0260 a0002c0003t0005g0261 a0002c0003t0005g0262 a0003c0006t0001g0194 a0003c0006t0002g0104 a0003c0006t0007g0193 a0003c0006t0007g0195 a0003c0010t0002g0191 a0003c0010t0002g0192 a0003c0010t0003g0190 a0004c0007t0008g0237 a0004c0007t0008g0238 a0004c0007t0008g0239 a0005c0011t0001g0251 a0005c0011t0001g0252 a0006c0013t0010g0044 a0006c0013t0010g0045 a0007c0027t0002g0019 a0008c0028t0008g0241 a0011c0020t0001g0064 a0013c0016t0001g0197 a0017c0030t0007g0137	241	271	0.8893	29	c.712 others(46): Show c.712-1860_712-1832dupCGGCCAGGGCGGCTCCACGACGGTGACT G	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0071 a0001c0001t0005g0071	1	87	0.0115	29	c.139 others(48): Show c.139-15364_139-15363insATATATATATATATATATATATATAT ATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp2 HG01515.hp1 others(8): Show HG00735.hp2 HG01257.hp2 HG01515.hp1 HG02071.hp1 NA18961.hp1 NA18969.hp2 NA18987.hp2 NA19001.hp1 NA19077.hp1 NA19090.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0097 others(8): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0147 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0004t0001g0058 a0001c0004t0001g0077	11	75	0.1467	29	c.173 others(48): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	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(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18978.hp2 NA19010.hp2 NA18970.hp1 NA18978.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0193 a0001c0001t0005g0274 a0001c0001t0006g0298 a0001c0001t0001g0193 a0001c0001t0005g0274 a0001c0001t0006g0298	3	68	0.0441	29	c.116 others(48): Show c.1168-3198_1168-3197insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	81	0.0123	29	c.263 others(46): Show c.263-5145_263-5144insATATATATATATATATTTTTTTTTTTTT T	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	519914	G G	GCCCCCCC others(22): Show GCCCCCCCCCCCCCCGCCCCCGCCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0139 a0001c0001t0029g0139	1	66	0.0152	29	c.-91 others(38): Show c.-914_-913insGGCGGGGGCGGGGGCGGGGGGGGGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding		69		chr7	TogoVar
PDGFD_chr11_103902189_104169147	103952751	T T	TTTATAAC others(22): Show TTTATAACATCTCAATCTGCATTGCCTTAA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	198	0.0051	29	c.511 others(46): Show c.511-5028_511-5027insTTAAGGCAATGCAGATTGAGATGTTATA A	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104118796	A A	AATATTAA others(22): Show AATATTAATATATAATATATTATATATTAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0103 a0001c0002t0008g0103	1	198	0.0051	29	c.124 others(48): Show c.124+44979_124+45007dupATAATATATAATATATTATATATTAA TAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02071.hp2 NA19089.hp2 HG01109.hp1 HG02071.hp2 NA19089.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0008 a0001c0001 a0001c0002 a0006c0008	a0001c0001t0001 a0001c0002t0001 a0006c0008t0001 a0001c0001t0001 a0001c0002t0001 a0006c0008t0001	a0001c0001t0001g0319 a0001c0002t0001g0320 a0006c0008t0001g0326 a0001c0001t0001g0319 a0001c0002t0001g0320 a0006c0008t0001g0326	3	13	0.2308	29	c.-17 others(38): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01255.hp1 HG02083.hp2 others(7): Show HG01099.hp1 HG01255.hp1 HG02083.hp2 HG02135.hp2 HG02698.hp2 HG03927.hp1 NA18747.hp1 NA18977.hp1 NA19060.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0182 a0001c0001t0001g0265 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0182 a0001c0001t0001g0265 a0001c0001t0002g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0340	10	34	0.2941	29	c.353 others(44): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	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(22): Show TCCCCGCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	40	0.0250	29	c.940 others(44): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA2_chr16_278164_292215	285937	C C	CCCCAACC others(22): Show CCCCAACCCCAACCCCAACCCCGCGGTTCT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	386	0.0026	29	c.111 others(46): Show c.1119+244_1119+272dupAACCCCAACCCCGCGGTTCTCCCAACCC C	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285959	G G	GCGGTTCT others(22): Show GCGGTTCTCCCAACCCCAACCCCAACCCCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG03130.hp1 others(2): Show HG01069.hp1 HG01071.hp1 HG03130.hp1 HG03486.hp1 HG03486.hp2	a0001 a0011 a0001 a0011	a0001c0026 a0001c0034 a0011c0020 others(1): Show a0001c0026 a0001c0034 a0011c0020 a0011c0029	a0001c0026t0001 a0001c0034t0001 a0011c0020t0001 others(1): Show a0001c0026t0001 a0001c0034t0001 a0011c0020t0001 a0011c0029t0001	a0001c0026t0001g0059 a0001c0034t0001g0060 a0011c0020t0001g0020 others(1): Show a0001c0026t0001g0059 a0001c0034t0001g0060 a0011c0020t0001g0020 a0011c0029t0001g0020	5	391	0.0128	29	c.111 others(46): Show c.1119+272_1119+273insAACCCCAACCCCCCGGTTCTCCCAACCC C	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285976	G G	GCGGTTCT others(22): Show GCGGTTCTCCCAACCCCAACCCCAACCCCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0066 a0001c0005t0001g0066	1	430	0.0023	29	c.111 others(46): Show c.1119+289_1119+290insAACCCCAACCCCCCGGTTCTCCCAACCC C	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	110	0.0091	29	c.248 others(46): Show c.248+1708_248+1709insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAAAGAA others(22): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0277 a0001c0001t0004g0277	1	87	0.0115	29	c.533 others(46): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTCTTTCTTTCTTT T	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM7_chr5_177478394_177502604	177480968	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	407	0.0025	29	c.26 others(40): Show c.2675_*2676insATATATATATATATATATATATATATATA	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding		2425		chr5	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	117	0.0085	29	c.313 others(46): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT T	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(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19055.hp2 HG02886.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0053 a0001c0001t0004g0317 a0001c0001t0001g0053 a0001c0001t0004g0317	2	118	0.0169	29	c.313 others(46): Show c.313-2864_313-2863insATATATATATATATATATATATATATTT T	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(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	117	0.0085	29	c.313 others(46): Show c.313-2864_313-2863insATATATATATATTTTTTTTTTTTTTTTT T	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG03704.hp2 others(2): Show HG01069.hp1 HG01071.hp1 HG03704.hp2 NA18969.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0141 others(2): Show a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0141 a0001c0001t0003g0167 a0001c0001t0003g0191	5	216	0.0231	29	c.313 others(46): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT A	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	126	0.0079	29	c.-46 others(40): Show c.-4633_-4632insATATATATATATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG04115.hp1 NA18941.hp2 others(3): Show HG02109.hp1 HG04115.hp1 NA18941.hp2 NA18972.hp2 NA18974.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0067 a0001c0001t0001g0213 a0001c0001t0001g0236 others(3): Show a0001c0001t0001g0067 a0001c0001t0001g0213 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0285 a0001c0001t0005g0362	6	65	0.0923	29	c.163 others(44): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704099	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	413	0.0024	29	c.163 others(44): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAATAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107225162	T T	TATATATA others(22): Show TATATATATATATATATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	220	0.0045	29	c.703 others(48): Show c.703-12881_703-12880insTATATATAAATATATATATATATATA TAT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19086.hp1 NA18953.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0138 a0001c0001t0009g0001 a0001c0001t0001g0138 a0001c0001t0009g0001	2	108	0.0185	29	c.296 others(48): Show c.296+29088_296+29089insATATATATATATATATATATTTTTTT TTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGGGCTCG others(22): Show GGGGCTCGCGGGGGGCTCGCAGGGGGGCTC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0191 a0001c0002t0003g0191	1	305	0.0033	29	c.143 others(44): Show c.143-515_143-514insGGCTCGCGGGGGGCTCGCAGGGGGGCTCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31878555	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02897.hp2 HG02486.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0016 a0001c0010t0043 a0001c0001t0016 a0001c0010t0043	a0001c0001t0016g0096 a0001c0010t0043g0034 a0001c0001t0016g0096 a0001c0010t0043g0034	2	5	0.4000	29	c.476 others(48): Show c.476+78855_476+78856insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989420	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTTTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0022 a0003c0004t0003g0022	1	213	0.0047	29	c.978 others(46): Show c.978+5764_978+5765insTTTTTTTTTTTTTTTTTTTTATTTATTT A	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24			chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989424	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18906.hp2 NA18962.hp1 others(3): Show HG02257.hp2 NA18906.hp2 NA18962.hp1 NA18973.hp2 NA19057.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0036	a0001c0005 a0001c0050 a0002c0002 others(3): Show a0001c0005 a0001c0050 a0002c0002 a0002c0003 a0003c0004 a0036c0030	a0001c0005t0001 a0001c0050t0036 a0002c0002t0001 others(3): Show a0001c0005t0001 a0001c0050t0036 a0002c0002t0001 a0002c0003t0005 a0003c0004t0004 a0036c0030t0033	a0001c0005t0001g0066 a0001c0050t0036g0187 a0002c0002t0001g0182 others(3): Show a0001c0005t0001g0066 a0001c0050t0036g0187 a0002c0002t0001g0182 a0002c0003t0005g0016 a0003c0004t0004g0195 a0036c0030t0033g0103	6	191	0.0314	29	c.978 others(46): Show c.978+5784_978+5785insATTTATTTATTTATTTTTTTTTTTTTTT T	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989424	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTTTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01361.hp2 HG02486.hp1 others(12): Show HG00438.hp1 HG01361.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG02897.hp1 HG02970.hp1 HG03098.hp2 HG03927.hp2 NA18962.hp2 NA19085.hp1 NA19088.hp2 NA19240.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0010 a0028	a0001c0001 a0002c0002 a0002c0003 others(6): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0003c0027 a0004c0006 a0007c0013 a0010c0039 a0028c0054	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0002c0002t0005 a0002c0002t0006 a0002c0003t0002 a0003c0004t0001 a0003c0004t0004 a0003c0027t0012 a0004c0006t0007 a0007c0013t0001 a0010c0039t0030 a0028c0054t0009	a0001c0001t0001g0091 a0001c0001t0001g0152 a0001c0001t0003g0032 others(12): Show a0001c0001t0001g0091 a0001c0001t0001g0152 a0001c0001t0003g0032 a0001c0001t0016g0096 a0002c0002t0005g0007 a0002c0002t0006g0170 a0002c0002t0006g0194 a0002c0003t0002g0076 a0003c0004t0001g0137 a0003c0004t0004g0154 a0003c0027t0012g0015 a0004c0006t0007g0074 a0007c0013t0001g0200 a0010c0039t0030g0216 a0028c0054t0009g0039	15	200	0.0750	29	c.978 others(46): Show c.978+5784_978+5785insTTTTATTTATTTATTTTTTTTTTTTTTT T	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989427	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTATTTATTTTTTTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02970.hp2 HG03041.hp1 others(2): Show HG02486.hp2 HG02970.hp2 HG03041.hp1 HG03579.hp2 NA18906.hp1	a0005 a0007 a0009 others(1): Show a0005 a0007 a0009 a0023	a0005c0009 a0005c0045 a0007c0013 others(2): Show a0005c0009 a0005c0045 a0007c0013 a0009c0014 a0023c0048	a0005c0009t0013 a0005c0045t0038 a0007c0013t0004 others(2): Show a0005c0009t0013 a0005c0045t0038 a0007c0013t0004 a0009c0014t0001 a0023c0048t0002	a0005c0009t0013g0203 a0005c0045t0038g0060 a0007c0013t0004g0198 others(2): Show a0005c0009t0013g0203 a0005c0045t0038g0060 a0007c0013t0004g0198 a0009c0014t0001g0043 a0023c0048t0002g0101	5	213	0.0235	29	c.978 others(46): Show c.978+5784_978+5785insTTTATTTATTTTTTTATTTTTTTTTTTT T	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar

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