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
PCBP3_chr21_45638725_45947450	45746205	T T	TTGACGTA others(38): Show TTGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG02922.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0248 a0001c0001t0003g0230 a0001c0001t0002g0248 a0001c0001t0003g0230	2	292	0.0069	45	c.-16 others(64): Show c.-161-9168_-161-9167insCTGACGTAGCGCACACGGTGTTGTCA GCATCGCCGTGTCAGTCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746250	T T	TTGACGTA others(38): Show TTGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	292	0.0034	45	c.-16 others(64): Show c.-161-9123_-161-9122insCTGACGTAGCGCACACGGTGTTGTCA GCATCGCCGTGTCAGTCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746360	T T	TTGTCAGC others(38): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp1 HG02257.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0019 a0001c0004t0002 a0001c0001t0019 a0001c0004t0002	a0001c0001t0019g0224 a0001c0004t0002g0087 a0001c0001t0019g0224 a0001c0004t0002g0087	2	292	0.0069	45	c.-16 others(64): Show c.-161-8807_-161-8763dupTTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11X_chrX_91774375_92628230	92147809	T T	TTCTTTCT others(38): Show TTCTTTCTTTCTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG02258.hp1 others(5): Show HG01081.hp1 HG01109.hp1 HG02258.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 a0001c0002t0002 a0001c0002t0006	a0001c0001t0002g0076 a0001c0001t0005g0056 a0001c0001t0006g0022 others(5): Show a0001c0001t0002g0076 a0001c0001t0005g0056 a0001c0001t0006g0022 a0001c0001t0012g0052 a0001c0001t0020g0149 a0001c0002t0002g0008 a0001c0002t0002g0011 a0001c0002t0006g0007	8	154	0.0520	45	c.303 others(66): Show c.3034-53566_3034-53565insTCTTTCTTTCTTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10			chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92331279	T T	TTTCTTCT others(38): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03471.hp1 HG03688.hp1 HG00642.hp1 HG03471.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0001 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0107 a0001c0001t0006g0046 a0001c0001t0010g0043 a0001c0001t0001g0107 a0001c0001t0006g0046 a0001c0001t0010g0043	3	154	0.0195	45	c.314 others(66): Show c.3145-56417_3145-56416insTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCCT others(38): Show CCCTCCCTCCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	115	0.0087	45	c.285 others(68): Show c.2854-127930_2854-127929insCTCCCTCCTCTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH17_chr13_57626744_57734311	57720773	T T	TGGGGGGG others(38): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	310	0.0032	45	c.279 others(64): Show c.2798-3837_2798-3836insGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGG	PCDH17	ENSG00000118946.12	transcript	ENST00000377918.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH7_chr4_30715369_31151800	30974246	C C	CTTCCTTT others(38): Show CTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03195.hp1 NA19240.hp1 HG02683.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0002g0199 a0001c0006t0001g0211 a0001c0006t0001g0212 a0001c0001t0002g0199 a0001c0006t0001g0211 a0001c0006t0001g0212	3	214	0.0140	45	c.339 others(66): Show c.3391+53905_3391+53906insCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTC	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	715893	C C	CTGAGTGT others(38): Show CTGAGTGTGAGAACTGGGCGTGGGTGCTGGGACCCTCTAGACACTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0075 a0001c0001t0063g0075	1	366	0.0027	45	c.-19 others(64): Show c.-190+9927_-190+9928insTGTGAGAACTGGGCGTGGGTGCTGGG ACCCTCTAGACACTGTGAG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	715912	G G	GTGGGTGC others(38): Show GTGGGTGCTGGGACCCTCTAGACACTGTGAGTGTGAGAACTGGGCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(62): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG02698.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18948.hp1 NA18962.hp2 NA18970.hp1 NA18971.hp2 NA18982.hp1 NA18990.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0035 a0001c0001t0038 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0001t0059 a0001c0001t0064 a0002c0002t0003 a0002c0002t0007 a0002c0002t0045 a0002c0002t0046 a0002c0002t0048 a0002c0002t0049 a0002c0002t0051 a0002c0002t0053 a0003c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0052 others(62): Show a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0002g0013 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0065 a0001c0001t0004g0015 a0001c0001t0012g0008 a0001c0001t0012g0016 a0001c0001t0013g0012 a0001c0001t0014g0025 a0001c0001t0014g0026 a0001c0001t0014g0027 a0001c0001t0022g0011 a0001c0001t0022g0032 a0001c0001t0027g0009 a0001c0001t0028g0023 a0001c0001t0028g0024 a0001c0001t0033g0067 a0001c0001t0035g0046 a0001c0001t0038g0010 a0001c0001t0047g0022 a0001c0001t0050g0014 a0001c0001t0052g0037 a0001c0001t0059g0018 a0001c0001t0064g0028 a0002c0002t0003g0019 a0002c0002t0003g0021 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0048 a0002c0002t0003g0058 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0066 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0007g0049 a0002c0002t0045g0057 a0002c0002t0046g0005 a0002c0002t0048g0047 a0002c0002t0049g0030 a0002c0002t0051g0031 a0002c0002t0053g0059 a0003c0008t0001g0050	65	366	0.1776	45	c.-19 others(64): Show c.-190+9943_-190+9944insGGGTGCTGGGACCCTCTAGACACTGT GAGTGTGAGAACTGGGCAT	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCLO_chr7_82749012_83167884	83096804	A A	ATATATTA others(38): Show ATATATTATATAATATATAATATAAATATATATAAAAATATATTAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG02630.hp1 HG02922.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0034 a0001c0019t0003 a0001c0019t0034	a0001c0019t0003g0132 a0001c0019t0034g0027 a0001c0019t0003g0132 a0001c0019t0034g0027	2	188	0.0106	45	c.330 others(66): Show c.3300+37445_3300+37446insATAATATATTTTTATATATATTTA TATTATATATTATATAATATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCNP_chr3_101569180_101599465	101586571	T T	TGTGTGTG others(38): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGTTTCTTGTTTCA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	424	0.0024	45	c.354 others(62): Show c.354+1061_354+1062insTGTGTGTGTGTGTGAGAGAGAGAGAGAG AGAGTTTCTTGTTTCAG	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNP_chr3_101569180_101599465	101586571	T T	TGTGTGTG others(38): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGTTTCTTGTTTCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00609.hp1 others(33): Show HG00323.hp2 HG00558.hp2 HG00609.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01261.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02074.hp1 HG02080.hp1 HG02148.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02895.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp1 NA18612.hp1 NA18941.hp1 NA18951.hp2 NA18954.hp1 NA18965.hp1 NA18967.hp1 NA19010.hp1 NA19055.hp2 NA19088.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0028 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0003c0003t0001g0004	36	424	0.0849	45	c.354 others(62): Show c.354+1061_354+1062insTGTGTGTGTGTGTGTGAGAGAGAGAGAG AGAGTTTCTTGTTTCAG	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNP_chr3_101569180_101599465	101586572	G G	GTGTGTGT others(38): Show GTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGTTTCTTGTTTC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	424	0.0024	45	c.354 others(62): Show c.354+1061_354+1062insTGTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAGTTTCTTGTTTC	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4			chr3	TogoVar
PCNX1_chr14_70902459_71120382	70910043	T T	TCCTCCTC others(38): Show TCCTCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0054 a0011c0027t0054	a0011c0027t0054g0146 a0011c0027t0054g0146	1	352	0.0028	45	c.153 others(62): Show c.153+2051_153+2052insCCCTCCTCCCCCTCCTCCCCCTCCTCCT CCTCCCCCTCCTCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910052	T T	TCCTCCTC others(38): Show TCCTCCTCCCCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0207 a0001c0001t0027g0207	1	352	0.0028	45	c.153 others(62): Show c.153+2057_153+2058insCCCCCCTCCTCCCCCTCCTCCCCCTCCT CCTCCTCCCCCTCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910145	C C	CCCTCCCC others(38): Show CCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18906.hp1 HG02486.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0222 a0001c0001t0008g0223 a0001c0001t0001g0222 a0001c0001t0008g0223	2	352	0.0057	45	c.153 others(62): Show c.153+2147_153+2148insCCCTCCTCCCCCTCCTCCCCCTCCTCCC CCTCCTCCCCCTCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910157	T T	TCCCCCTC others(38): Show TCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0004 a0010c0025t0004	a0010c0025t0004g0218 a0010c0025t0004g0218	1	352	0.0028	45	c.153 others(62): Show c.153+2156_153+2157insCCCTCCCCCTCCTCCCCCTCCTCCCCCT CCTCCCCCTCCTCCCCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCSK1N_chrX_48826096_48840610	48837604	T T	TTTGGGGG others(38): Show TTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	314	0.0032	45	c.-20 others(56): Show c.-2073_-2072insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCC CCCCCCCCCAA	PCSK1N	ENSG00000102109.9	transcript	ENST00000218230.6	protein_coding		1995		chrX	TogoVar
PCSK6_chr15_101298933_101494707	101360710	C C	CTCCTGCC others(38): Show CTCCTGCCCGGGGGCCTTAGCATCCCCTGGAACACACCAGGCACAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03516.hp2 NA19030.hp1 HG03225.hp2 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0010 a0001c0001 a0001c0007 a0001c0010	a0001c0001t0002 a0001c0007t0002 a0001c0010t0002 a0001c0001t0002 a0001c0007t0002 a0001c0010t0002	a0001c0001t0002g0296 a0001c0007t0002g0093 a0001c0010t0002g0251 a0001c0001t0002g0296 a0001c0007t0002g0093 a0001c0010t0002g0251	3	336	0.0089	45	c.185 others(64): Show c.1858+5485_1858+5486insCTGTGCCTGGTGTGTTCCAGGGGATG CTAAGGCCCCCGGGCAGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21			chr15	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(38): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG03654.hp2 HG01070.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	372	0.0054	45	c.13 others(56): Show c.1379_*1380insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTC	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding		381		chr5	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(38): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0066 a0001c0002t0066	a0001c0002t0066g0177 a0001c0002t0066g0177	1	260	0.0039	45	c.117 others(62): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATTTTTTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAATAT others(38): Show AAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0039 a0001c0001t0047g0039	1	260	0.0039	45	c.117 others(62): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATATATTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PDE11A_chr2_177618244_178077777	177947137	G G	GGTGGGGG others(38): Show GGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp2 HG02896.hp1 others(2): Show HG02280.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0025 a0001c0001 a0002c0002 a0007c0025	a0001c0001t0017 a0001c0001t0025 a0002c0002t0001 others(1): Show a0001c0001t0017 a0001c0001t0025 a0002c0002t0001 a0007c0025t0048	a0001c0001t0017g0095 a0001c0001t0025g0096 a0001c0001t0025g0103 others(2): Show a0001c0001t0017g0095 a0001c0001t0025g0096 a0001c0001t0025g0103 a0002c0002t0001g0094 a0007c0025t0048g0097	5	170	0.0294	45	c.107 others(66): Show c.1072-41951_1072-41950insTTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCAC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDGFC_chr4_156755454_156976799	156825593	T T	TAAGAAGA others(38): Show TAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	208	0.0048	45	c.315 others(64): Show c.315-14577_315-14576insCTTCTTCTTCTTCTTCTTCTCCTTCT TCTTCTTCTTCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDIA5_chr3_123062025_123167104	123117399	T T	TATATATA others(38): Show TATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	332	0.0030	45	c.609 others(62): Show c.609+1101_609+1102insATATATATATATATATATATATATATAT ATATATATATATATATA	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16			chr3	TogoVar
PDLIM7_chr5_177478394_177502604	177480968	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	440	0.0023	45	c.26 others(56): Show c.2675_*2676insAAAAAAAAAAATATATATATATATATATATATAT ATATATATATA	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding		2425		chr5	TogoVar
PDLIM7_chr5_177478394_177502604	177497008	G G	GGGGGAGG others(38): Show GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	440	0.0023	45	c.-11 others(60): Show c.-11-486_-11-485insTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	1/12			chr5	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(38): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	334	0.0030	45	c.313 others(62): Show c.313-2864_313-2863insATATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TATATATA others(38): Show TATATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	416	0.0024	45	c.-46 others(56): Show c.-4633_-4632insATATATATATATATATATATATATATATATATAT ATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(38): Show GGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	358	0.0028	45	c.143 others(60): Show c.143-497_143-496insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(38): Show GGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0231 a0001c0001t0094g0231	1	358	0.0028	45	c.143 others(60): Show c.143-506_143-505insGGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(38): Show GGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	358	0.0028	45	c.143 others(60): Show c.143-508_143-507insGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741165	G G	GGGGGGGC others(38): Show GGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0047 a0001c0001t0023g0047	1	358	0.0028	45	c.143 others(60): Show c.143-483_143-482insGGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGCT others(38): Show GGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0084 a0001c0002t0041g0084	1	358	0.0028	45	c.143 others(60): Show c.143-474_143-473insCTCGCGGGGGGGCTGGCGGGGGGCTCGCGG GGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741200	G G	GGGGGGCT others(38): Show GGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19079.hp1 NA18983.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0140 a0001c0001t0010g0158 a0001c0001t0010g0140 a0001c0001t0010g0158	2	358	0.0056	45	c.143 others(60): Show c.143-462_143-461insCTGGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741268	G G	GGGGGGCT others(38): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0054 a0001c0001t0015g0054	1	358	0.0028	45	c.143 others(60): Show c.143-394_143-393insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741292	G G	GGGGGGCT others(38): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0203 a0001c0001t0089g0203	1	358	0.0028	45	c.143 others(60): Show c.143-370_143-369insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(38): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	358	0.0028	45	c.143 others(60): Show c.143-267_143-266insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741407	G G	GGGGGGCT others(38): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0103 a0001c0002t0003g0103	1	358	0.0028	45	c.143 others(60): Show c.143-255_143-254insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741419	G G	GGGGGGGC others(38): Show GGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19087.hp1 NA18957.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0018 a0001c0002t0003 a0001c0002t0018	a0001c0002t0003g0108 a0001c0002t0018g0111 a0001c0002t0003g0108 a0001c0002t0018g0111	2	358	0.0056	45	c.143 others(60): Show c.143-229_143-228insGGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGGC others(38): Show GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19081.hp1 HG01943.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0018 a0001c0002t0003 a0001c0002t0018	a0001c0002t0003g0082 a0001c0002t0018g0143 a0001c0002t0003g0082 a0001c0002t0018g0143	2	358	0.0056	45	c.143 others(60): Show c.143-193_143-192insCGGGGGGCTCGCAGGGGGGCTCGCGGGGGG CTCGCGGGGGGCTCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741465	G G	GGGGGGCT others(38): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0255	1	358	0.0028	45	c.143 others(60): Show c.143-193_143-192insCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCAGGGGGCTCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741465	G G	GGGGGGCT others(38): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCAGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0340 a0001c0001t0031g0340	1	358	0.0028	45	c.143 others(60): Show c.143-193_143-192insCGGGGGGGCTCGCGGGGGGCTCGCAGGGGG CTCGCAGGGGGCTCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDYN_chr20_1973759_1999058	1996365	C C	CCCTGGGA others(38): Show CCCTGGGAATCTGGGAGCCCAGGAGTGAGCGTCTACTTCATCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	390	0.0026	45	c.-25 others(56): Show c.-2535_-2534insTGGGGATGAAGTAGACGCTCACTCCTGGGCTCCC AGATTCCCAGG	PDYN	ENSG00000101327.9	transcript	ENST00000217305.3	protein_coding		2308		chr20	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(38): Show CTTTATTTCTTTCTTTCTTTCTTTATTTATTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	408	0.0025	45	c.-26 others(56): Show c.-2692_-2691insATAAATAAATAAATAAATAAATAAAGAAAGAAAG AAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PEX5_chr12_7184686_7216459	7190512	G G	GGCCTCTG others(38): Show GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18952.hp1 NA19064.hp2 HG03654.hp2 NA18952.hp1 NA19064.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0003 a0003c0004t0005 a0003c0004t0001 a0003c0004t0003 a0003c0004t0005	a0003c0004t0001g0161 a0003c0004t0003g0309 a0003c0004t0005g0311 a0003c0004t0001g0161 a0003c0004t0003g0309 a0003c0004t0005g0311	3	428	0.0070	45	c.147 others(59): Show c.147+77_147+121dupCAGCCTCTGAGGCAGTGAGTGTTCTTGAGGT GGAAAGCCCAGGTG	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196615	A A	ATACATAA others(38): Show ATACATAATGTAATAATTATATATGTCATACATAATGTAATAATGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0293 a0001c0003t0004g0293	1	428	0.0023	45	c.449 others(62): Show c.449-2396_449-2395insTACATAATGTAATAATTATATATGTCAT ACATAATGTAATAATGT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15			chr12	TogoVar
PEX5_chr12_7184686_7216459	7196615	A A	ATACATAA others(38): Show ATACATAATGTAATTATATATGTCATACATAATGTAATAATTATGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG01884.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	2	428	0.0047	45	c.449 others(62): Show c.449-2396_449-2395insTACATAATGTAATTATATATGTCATACA TAATGTAATAATTATGT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15			chr12	TogoVar
PEX5_chr12_7184686_7216459	7196642	A A	ATACATAA others(38): Show ATACATAATGTAATTATATATGTCATACATAATGTAATAATTATGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01891.hp1 others(3): Show HG01167.hp1 HG01169.hp2 HG01891.hp1 HG02280.hp2 HG02615.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0215 a0001c0001t0004g0216 others(2): Show a0001c0001t0004g0036 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0218 a0001c0001t0004g0224	6	428	0.0140	45	c.449 others(62): Show c.449-2369_449-2368insTACATAATGTAATTATATATGTCATACA TAATGTAATAATTATGT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15			chr12	TogoVar

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