Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
PAX8_chr2_113210997_113283921	113255277	G G	GGGAGGAG others(37): Show GGGAGGAGGGAGGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02559.hp1 others(4): Show HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 others(1): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0003t0013	a0001c0001t0011g0026 a0001c0001t0011g0027 a0001c0001t0012g0024 others(4): Show a0001c0001t0011g0026 a0001c0001t0011g0027 a0001c0001t0012g0024 a0001c0001t0012g0025 a0001c0001t0018g0030 a0001c0003t0013g0028 a0001c0003t0013g0029	7	260	0.0269	44	c.26- others(59): Show c.26-8359_26-8358insTCCCTCCTCCCTCCCTCCTCCCTCCCTCCT TCCCTCCCTCCTCC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	2/11			chr2	TogoVar
PCBP3_chr21_45638725_45947450	45667075	G G	GTTCTTTC others(37): Show GTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0225 a0001c0001t0019g0225	1	7	0.1429	44	c.-27 others(63): Show c.-278-1776_-278-1775insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746719	T T	TGGTGTCA others(37): Show TGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCCACATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG01243.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0030 a0001c0001t0003g0019 a0001c0001t0003g0030	2	289	0.0069	44	c.-16 others(63): Show c.-161-8697_-161-8696insGTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCCACATGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746766	T T	TGGTGTCA others(37): Show TGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCCACATG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	261	0.0038	44	c.-16 others(63): Show c.-161-8650_-161-8649insGTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCCACATGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45898654	C C	CGCCGTCC others(37): Show CGCCGTCCTCACGGCCTCCCTCTGCCTCCACGGGCCCCTCTGCAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp1 HG02055.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0262 a0001c0001t0004g0017 a0001c0001t0003g0262 a0001c0001t0004g0017	2	285	0.0070	44	c.166 others(59): Show c.166-945_166-944insGCCGTCCTCACGGCCTCCCTCTGCCTCCAC GGGCCCCTCTGCAT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45898907	A A	ACCCCTCT others(37): Show ACCCCTCTGCACACCGTCCTCACGGCCTCCCTCTCCCTCCACGGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0289 a0001c0003t0014g0290 a0001c0003t0014g0289 a0001c0003t0014g0290	2	290	0.0069	44	c.166 others(59): Show c.166-681_166-680insACCGTCCTCACGGCCTCCCTCTCCCTCCAC GGGCCCCTCTGCAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11X_chrX_91774375_92628230	91950589	G G	GATATATA others(37): Show GATATATATATATAAATGTGATATATATATATAAATGTGATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0031 a0002c0006t0009g0031	1	113	0.0088	44	c.303 others(65): Show c.3033+71329_3033+71330insAATGTGATATATATATATAAATGT GATATATATATATATATATA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5160038	T T	TATATAAT others(37): Show TATATAATATAATATAATATAATATAATATATATAATATAATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	2	0.5000	44	c.285 others(65): Show c.2853+59361_2853+59362insTATAATATAATATAATATAATATA ATATAATATAATATAATATA	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG04199.hp1 NA19079.hp1 HG02055.hp1 HG04199.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0003g0090 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0003g0090	3	11	0.2727	44	c.285 others(67): Show c.2854-127930_2854-127929insCTCCCTCCCTCCCTCCCTCCTT TCTTTCTTTCTTTCTTTCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	9	0.1111	44	c.285 others(67): Show c.2854-127930_2854-127929insCTCCCTCCCTCCCTCCCTTCTT TCTTTCTTTCTTTCTTTCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	9	0.1111	44	c.285 others(67): Show c.2854-127930_2854-127929insCTCCCTCCCTCCCTCCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0107 a0005c0004t0001g0107	1	9	0.1111	44	c.285 others(67): Show c.2854-127930_2854-127929insCTCCCTCCCTCCCTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH15_chr10_53797771_54806231	53855904	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0093 a0005c0005t0002g0093	1	22	0.0455	44	c.380 others(63): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA TATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888306	A A	ACATATAT others(37): Show ACATATATATATATATGTATATGTATATATATACGTATATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01261.hp2 others(7): Show HG00642.hp1 HG01081.hp2 HG01261.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02602.hp2 HG03579.hp2 HG03669.hp2 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0002c0002 a0002c0039 others(3): Show a0001c0001 a0002c0002 a0002c0039 a0004c0004 a0005c0040 a0009c0008	a0001c0001t0001 a0001c0001t0020 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0020 a0002c0002t0001 a0002c0039t0001 a0004c0004t0001 a0005c0040t0001 a0009c0008t0002	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0101 others(7): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0101 a0001c0001t0020g0094 a0002c0002t0001g0095 a0002c0039t0001g0073 a0004c0004t0001g0045 a0004c0004t0001g0052 a0005c0040t0001g0071 a0009c0008t0002g0049	10	97	0.1031	44	c.350 others(65): Show c.3501+14936_3501+14937insCATATATATACGTATATATATACA TATACATATATATATATATG	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888306	A A	ATACATAT others(37): Show ATACATATATATATATGTATATGTATATATATACGTATATATATG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0022 a0008c0007t0022	a0008c0007t0022g0075 a0008c0007t0022g0075	1	88	0.0114	44	c.350 others(65): Show c.3501+14936_3501+14937insCATATATATACGTATATATATACA TATACATATATATATATGTA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888311	T T	TATATATA others(37): Show TATATATATGTATATGTATATATATACGTATATATATGTATGTAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0012 a0010c0009t0012	a0010c0009t0012g0046 a0010c0009t0012g0046	1	49	0.0204	44	c.350 others(65): Show c.3501+14931_3501+14932insGTACATACATATATATACGTATAT ATATACATATACATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53855904	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0001 a0005c0034t0001	a0005c0034t0001g0085 a0005c0034t0001g0085	1	21	0.0476	44	c.380 others(63): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA TATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	28/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888306	A A	ACATATAT others(37): Show ACATATATATATATATGTATATGTATATATATACGTATATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01261.hp1 others(7): Show HG00642.hp2 HG01081.hp1 HG01261.hp1 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02602.hp2 HG03579.hp2 HG03669.hp2 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0009 a0028	a0001c0001 a0001c0007 a0002c0002 others(5): Show a0001c0001 a0001c0007 a0002c0002 a0002c0044 a0004c0004 a0005c0045 a0009c0018 a0028c0038	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0002c0044t0001 a0004c0004t0001 a0005c0045t0001 a0009c0018t0001 a0028c0038t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0007t0001g0086 others(7): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0007t0001g0086 a0002c0002t0001g0087 a0002c0044t0001g0067 a0004c0004t0001g0042 a0004c0004t0001g0049 a0005c0045t0001g0065 a0009c0018t0001g0046 a0028c0038t0001g0093	10	89	0.1124	44	c.350 others(65): Show c.3501+14936_3501+14937insCATATATATACGTATATATATACA TATACATATATATATATATG	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888306	A A	ATACATAT others(37): Show ATACATATATATATATGTATATGTATATATATACGTATATATATG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0069 a0010c0014t0001g0069	1	80	0.0125	44	c.350 others(65): Show c.3501+14936_3501+14937insCATATATATACGTATATATATACA TATACATATATATATATGTA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888311	T T	TATATATA others(37): Show TATATATATGTATATGTATATATATACGTATATATATGTATGTAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0008 a0019c0026t0008	a0019c0026t0008g0043 a0019c0026t0008g0043	1	43	0.0233	44	c.350 others(65): Show c.3501+14931_3501+14932insGTACATACATATATATACGTATAT ATATACATATACATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH1_chr5_141848090_141883410	141850521	C C	CGGGGTGG others(37): Show CGGGGTGGGGGGGGGTGGGGGTGGGGGTGGGGGGGGGTGGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	382	0.0026	44	c.35 others(55): Show c.3520_*3521insCACCCCCACCCCCCCCCACCCCCACCCCCACCCC CCCCCACCCC	PCDH1	ENSG00000156453.14	transcript	ENST00000287008.8	protein_coding		2568		chr5	TogoVar
PCDH7_chr4_30715369_31151800	30960151	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0013 a0001c0001t0020g0013	1	39	0.0256	44	c.339 others(65): Show c.3391+39785_3391+39786insAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGGAGGGAGGGAGG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	30960151	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03579.hp2 NA18959.hp1 others(1): Show HG02258.hp1 HG03579.hp2 NA18959.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0120 a0001c0001t0003g0065 a0001c0001t0005g0024 others(1): Show a0001c0001t0001g0120 a0001c0001t0003g0065 a0001c0001t0005g0024 a0001c0001t0007g0116	4	42	0.0952	44	c.339 others(65): Show c.3391+39785_3391+39786insAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	30960151	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0041 a0001c0019t0005g0041	1	39	0.0256	44	c.339 others(65): Show c.3391+39785_3391+39786insAAGGAAGGAAGGAAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	30960151	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 NA18949.hp1 others(1): Show HG02258.hp2 HG02717.hp2 NA18949.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0005 a0001c0001t0008 a0001c0004t0007 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0004t0007 a0001c0005t0001	a0001c0001t0005g0044 a0001c0001t0008g0039 a0001c0004t0007g0018 others(1): Show a0001c0001t0005g0044 a0001c0001t0008g0039 a0001c0004t0007g0018 a0001c0005t0001g0103	4	42	0.0952	44	c.339 others(65): Show c.3391+39785_3391+39786insAAGGAAGGAAGGAAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH9_chr13_66297834_67235336	66852825	T T	TACAGATT others(37): Show TACAGATTCCTGAACTCCATAGCAAATCTACTTGATTAGACTATC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0020 a0001c0002t0004g0020	1	80	0.0125	44	c.313 others(65): Show c.3138+50635_3138+50678dupGATAGTCTAATCAAGTAGATTTGC TATGGAGTTCAGGAATCTGT	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	3/4			chr13	TogoVar
PCGF3_chr4_700832_775089	733049	G G	GGCCCCTG others(37): Show GGCCCCTGCCACGTGCTGCCTCCGCCCCTGCCCCGTGCTGCCTCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0037 a0002c0002t0003g0037	1	362	0.0028	44	c.-9- others(57): Show c.-9-614_-9-613insACGTGCTGCCTCCGCCCCTGCCCCGTGCTGCC TCCGCCCCTGCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	733059	G G	GCGTGCTG others(37): Show GCGTGCTGCCTCCGCCCCTGCCCCGTGCTGCCTCCGCCCCTGCCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0010 a0001c0001t0060g0010	1	117	0.0085	44	c.-9- others(57): Show c.-9-601_-9-558dupCGCCCCTGCCCCGTGCTGCCTCCGCCCCTGCC CCGTGCTGCCTC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCLO_chr7_82749012_83167884	83096860	A A	AATATATT others(37): Show AATATATTATATATTATATAATATAAATATATATATAAATATATT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA21309.hp1 HG03225.hp2 NA21309.hp1	a0042 a0053 a0042 a0053	a0042c0038 a0053c0075 a0042c0038 a0053c0075	a0042c0038t0016 a0053c0075t0003 a0042c0038t0016 a0053c0075t0003	a0042c0038t0016g0051 a0053c0075t0003g0138 a0042c0038t0016g0051 a0053c0075t0003g0138	2	127	0.0157	44	c.330 others(65): Show c.3300+37389_3300+37390insAATATATTTATATATATATTTATA TTATATAATATATAATATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCMT1_chr6_149744741_149816419	149763019	A A	ATATGATA others(37): Show ATATGATATATATATCTATGATATATATGATATATCTATGATATC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	329	0.0030	44	c.56- others(59): Show c.56-8133_56-8132insATATCTATGATATATATGATATATCTATGA TATCTATGATATAT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCNT_chr21_46319156_46450769	46426100	A A	ACAGAGTC others(37): Show ACAGAGTCTCGCTGTCTCTACCAGGCTGGAGTGCAGTGGCACAAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp1 HG01109.hp1 others(44): Show HG01069.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp2 HG03710.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0004 a0006 a0013 others(8): Show a0004 a0006 a0013 a0016 a0020 a0023 a0034 a0040 a0044 a0047 a0066	a0004c0004 a0004c0023 a0004c0071 others(13): Show a0004c0004 a0004c0023 a0004c0071 a0006c0008 a0006c0016 a0006c0024 a0006c0069 a0013c0014 a0016c0025 a0020c0029 a0023c0034 a0034c0074 a0040c0072 a0044c0068 a0047c0070 a0066c0053	a0004c0004t0001 a0004c0004t0006 a0004c0023t0003 others(14): Show a0004c0004t0001 a0004c0004t0006 a0004c0023t0003 a0004c0071t0001 a0006c0008t0001 a0006c0016t0001 a0006c0024t0001 a0006c0069t0001 a0013c0014t0004 a0016c0025t0001 a0020c0029t0001 a0023c0034t0001 a0034c0074t0001 a0040c0072t0001 a0044c0068t0001 a0047c0070t0001 a0066c0053t0001	a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0097 others(44): Show a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0001g0101 a0004c0004t0001g0103 a0004c0004t0001g0104 a0004c0004t0001g0105 a0004c0004t0001g0106 a0004c0004t0001g0111 a0004c0004t0006g0102 a0004c0023t0003g0092 a0004c0023t0003g0093 a0004c0023t0003g0094 a0004c0071t0001g0107 a0006c0008t0001g0084 a0006c0008t0001g0085 a0006c0008t0001g0086 a0006c0008t0001g0087 a0006c0008t0001g0088 a0006c0008t0001g0089 a0006c0016t0001g0113 a0006c0016t0001g0114 a0006c0016t0001g0115 a0006c0016t0001g0117 a0006c0024t0001g0070 a0006c0024t0001g0072 a0006c0024t0001g0073 a0006c0069t0001g0096 a0013c0014t0004g0328 a0013c0014t0004g0329 a0013c0014t0004g0330 a0013c0014t0004g0331 a0016c0025t0001g0095 a0016c0025t0001g0118 a0016c0025t0001g0119 a0020c0029t0001g0110 a0020c0029t0001g0121 a0023c0034t0001g0323 a0023c0034t0001g0324 a0034c0074t0001g0109 a0040c0072t0001g0108 a0044c0068t0001g0071 a0047c0070t0001g0116 a0066c0053t0001g0325	47	329	0.1429	44	c.732 others(61): Show c.7320+130_7320+131insAGAGTCTCGCTGTCTCTACCAGGCTGGA GTGCAGTGGCACAATC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	33/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46426100	A A	ACAGAGTC others(37): Show ACAGAGTCTCTCTGTCTCTACCAGGCTGGAGTGCAGTGGCACAAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0120 a0004c0004t0003g0120	1	283	0.0035	44	c.732 others(61): Show c.7320+130_7320+131insAGAGTCTCTCTGTCTCTACCAGGCTGGA GTGCAGTGGCACAATC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	33/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNX1_chr14_70902459_71120382	70910052	T T	TCCTCCTC others(37): Show TCCTCCTCCCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0010 a0001c0020t0010	a0001c0020t0010g0210 a0001c0020t0010g0210	1	347	0.0029	44	c.153 others(61): Show c.153+2057_153+2058insCCCCCTCCTCCCCCTCCTCCCCCTCCTC CTCCTCCCCCTCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCSK5_chr9_75885673_76367975	76351507	A A	AGAAGGAA others(37): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0022 a0022	a0022c0028 a0022c0028	a0022c0028t0062 a0022c0028t0062	a0022c0028t0062g0074 a0022c0028t0062g0074	1	140	0.0071	44	c.506 others(61): Show c.5067+582_5067+583insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101412691	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG02145.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0002g0293 a0001c0006t0001g0037 a0001c0001t0002g0293 a0001c0006t0001g0037	2	261	0.0077	44	c.824 others(63): Show c.824-14116_824-14115insTATATATATATATATATATATATATA TATATATATATATATATA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21			chr15	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	167	0.0060	44	c.153 others(63): Show c.1534+3085_1534+3086insTATATATATATATATATATATATATA TATATACACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0301 a0001c0001t0003g0301	1	167	0.0060	44	c.153 others(63): Show c.1534+3085_1534+3086insTATATATATATATATATATATATACA CACACACACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(37): Show AAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	119	0.0084	44	c.117 others(61): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATTTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAATA others(37): Show AAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19074.hp1 NA18984.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0026 a0001c0001t0012 a0001c0001t0026	a0001c0001t0012g0088 a0001c0001t0026g0087 a0001c0001t0012g0088 a0001c0001t0026g0087	2	120	0.0167	44	c.117 others(61): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATATTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PC_chr11_66843420_66963383	66903810	C C	CCACACAC others(37): Show CCACACACATATATACATACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02071.hp1 HG02602.hp1 others(2): Show HG01361.hp1 HG02071.hp1 HG02602.hp1 HG02735.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 others(2): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119	5	267	0.0187	44	c.1-3 others(59): Show c.1-31652_1-31651insTGTGTGTGTGTGTGTGTGTGTGTGTGTATG TATATATGTGTGTG	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22			chr11	TogoVar
PDCD6_chr5_266646_319974	318527	G G	GGAGAGGG others(37): Show GGAGAGGGAACCCAGGCGTGACCAGGGAGAAACTGGTGTGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01081.hp2 others(26): Show HG00280.hp2 HG00735.hp1 HG01081.hp2 HG01099.hp2 HG01169.hp1 HG01256.hp2 HG01891.hp2 HG01981.hp1 HG02055.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02818.hp1 HG02886.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03669.hp2 HG03834.hp2 NA18906.hp1 NA19012.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001 a0002c0004t0003 a0003c0005t0004	a0001c0001t0001g0149 a0001c0001t0003g0065 a0001c0001t0003g0071 others(24): Show a0001c0001t0001g0149 a0001c0001t0003g0065 a0001c0001t0003g0071 a0001c0002t0001g0001 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0043 a0001c0002t0001g0214 a0002c0003t0001g0029 a0002c0004t0003g0019 a0002c0004t0003g0265 a0002c0004t0003g0266 a0002c0004t0003g0273 a0002c0004t0003g0276 a0002c0004t0003g0277 a0002c0004t0003g0278 a0002c0004t0003g0279 a0002c0004t0003g0280 a0002c0004t0003g0288 a0002c0004t0003g0294 a0003c0005t0004g0021 a0003c0005t0004g0303 a0003c0005t0004g0304 a0003c0005t0004g0305 a0003c0005t0004g0306 a0003c0005t0004g0307	29	358	0.0810	44	c.40 others(55): Show c.4012_*4013insGAGAGGGAACCCAGGCGTGACCAGGGAGAAACTG GTGTGGGAGA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3554		chr5	TogoVar
PDE1A_chr2_182135041_182432036	182264878	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0157 a0001c0001t0026g0157	1	65	0.0154	44	c.54- others(57): Show c.54-465_54-464insATATATATATATATATATATATATATATATAT ATATATATATAT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE3A_chr12_20363537_20693583	20386049	T T	TATAAATA others(37): Show TATAAATATATATAAAATATATATAAATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp1 others(57): Show HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG01517.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp2 HG02145.hp2 HG02155.hp2 HG02300.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02738.hp1 HG02970.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03710.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19010.hp1 NA19030.hp2 NA19065.hp1 NA19081.hp1 NA19090.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0017 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0033 a0001c0001t0042 a0001c0001t0050 a0001c0001t0055 a0001c0001t0057 a0001c0001t0062 a0001c0001t0066 a0001c0001t0080 a0001c0001t0089 a0001c0001t0093 a0001c0001t0102 a0001c0001t0105 a0001c0001t0144 a0001c0001t0145 a0001c0003t0034 a0001c0003t0036 a0001c0003t0049 a0001c0003t0059 a0001c0006t0007 a0001c0017t0083 a0002c0002t0003 a0002c0002t0010 a0002c0002t0025 a0002c0002t0063 a0002c0002t0109 a0002c0002t0112 a0002c0002t0117 a0002c0002t0118 a0002c0002t0125 a0002c0002t0131 a0002c0002t0139 a0002c0002t0142 a0002c0005t0013	a0001c0001t0001g0146 a0001c0001t0001g0179 a0001c0001t0002g0080 others(57): Show a0001c0001t0001g0146 a0001c0001t0001g0179 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0125 a0001c0001t0002g0152 a0001c0001t0004g0141 a0001c0001t0005g0009 a0001c0001t0006g0042 a0001c0001t0006g0131 a0001c0001t0007g0027 a0001c0001t0012g0043 a0001c0001t0012g0147 a0001c0001t0015g0140 a0001c0001t0016g0151 a0001c0001t0017g0097 a0001c0001t0018g0087 a0001c0001t0018g0149 a0001c0001t0019g0153 a0001c0001t0020g0078 a0001c0001t0020g0110 a0001c0001t0027g0132 a0001c0001t0033g0139 a0001c0001t0042g0186 a0001c0001t0050g0156 a0001c0001t0055g0178 a0001c0001t0057g0130 a0001c0001t0062g0006 a0001c0001t0066g0169 a0001c0001t0080g0135 a0001c0001t0089g0094 a0001c0001t0093g0136 a0001c0001t0102g0012 a0001c0001t0105g0022 a0001c0001t0144g0138 a0001c0001t0145g0079 a0001c0003t0034g0073 a0001c0003t0036g0008 a0001c0003t0049g0142 a0001c0003t0059g0154 a0001c0006t0007g0108 a0001c0017t0083g0086 a0002c0002t0003g0045 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0160 a0002c0002t0010g0159 a0002c0002t0025g0093 a0002c0002t0025g0109 a0002c0002t0063g0111 a0002c0002t0109g0145 a0002c0002t0112g0187 a0002c0002t0117g0195 a0002c0002t0118g0185 a0002c0002t0125g0148 a0002c0002t0131g0137 a0002c0002t0139g0056 a0002c0002t0142g0074 a0002c0005t0013g0143 a0002c0005t0013g0144	60	177	0.3390	44	c.960 others(63): Show c.960+15806_960+15807insTAAATATATATAAAATATATATAAAT ATATATAAATATATATAA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3B_chr11_14638804_14877044	14749899	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02922.hp2 HG03579.hp2 others(2): Show HG01192.hp1 HG02922.hp2 HG03579.hp2 NA19062.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0271 a0001c0001t0001g0315 a0001c0001t0002g0045 others(2): Show a0001c0001t0001g0271 a0001c0001t0001g0315 a0001c0001t0002g0045 a0001c0001t0004g0285 a0001c0001t0004g0286	5	87	0.0575	44	c.979 others(63): Show c.979-22024_979-22023insATATATATATATATATATATATATAT ATATATATATATATATAT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0039 a0002c0011t0039	a0002c0011t0039g0207 a0002c0011t0039g0207	1	69	0.0145	44	c.858 others(61): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE7B_chr6_135846701_136200574	135934825	A A	ATAAATAA others(37): Show ATAAATAAATATATATATTTATTTAAATAAATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0034 a0001c0001t0032 a0001c0001t0034	a0001c0001t0032g0055 a0001c0001t0034g0054 a0001c0001t0032g0055 a0001c0001t0034g0054	2	130	0.0154	44	c.22- others(61): Show c.22-12601_22-12600insTTTATTTAAATAAATATATATATTTATT TAAATAAATATATATA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135934863	A A	ATTTATTT others(37): Show ATTTATTTAAATAAATATATATAAAAATATATATAAATATTTATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18906.hp2 HG03540.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0001c0006 a0002c0004	a0001c0006t0027 a0002c0004t0013 a0001c0006t0027 a0002c0004t0013	a0001c0006t0027g0032 a0002c0004t0013g0108 a0001c0006t0027g0032 a0002c0004t0013g0108	2	140	0.0143	44	c.22- others(61): Show c.22-12601_22-12600insTTTATTTAAATAAATATATATAAAAATA TATATAAATATTTATT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12			chr6	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	81	0.0123	44	c.263 others(61): Show c.263-5145_263-5144insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	511319	G G	GGGCCAGT others(37): Show GGGCCAGTGGCTGGGGGTGGGGAGAGGGGAACTTAGTCCAGGTGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG02922.hp1 HG02622.hp1 HG02717.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0109 a0001c0001t0041 a0001c0001t0109	a0001c0001t0041g0275 a0001c0001t0041g0276 a0001c0001t0109g0274 a0001c0001t0041g0275 a0001c0001t0041g0276 a0001c0001t0109g0274	3	300	0.0100	44	c.266 others(59): Show c.266-324_266-323insGCACCTGGACTAAGTTCCCCTCTCCCCACC CCCAGCCACTGGCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5			chr7	TogoVar
PDGFA_chr7_492258_524846	512266	C C	CACCCGGC others(37): Show CACCCGGCCCTGCCCTGCCCATCGCGGCCTCCTGGACTCACCCCG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0075 a0001c0002t0006g0075	1	299	0.0033	44	c.265 others(57): Show c.265+84_265+85insCGGGGTGAGTCCAGGAGGCCGCGATGGGCAGG GCAGGGCCGGGT	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5			chr7	TogoVar

Search by Variant

Search

Search Results