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
POLH_chr6_43571185_43625523	43598201	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	242	0.0041	19	c.660 others(34): Show c.660+353_660+354insAAAAAAAAAAAAAAAAAAA	POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLK_chr5_75506891_75614991	75595248	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0144 a0001c0002t0002g0144	1	130	0.0077	19	c.152 others(36): Show c.1529-967_1529-949dupAAAAAAAAAAAAAAAAAAA	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLK_chr5_75506891_75614991	75612322	C C	CCCCCCCG others(12): Show CCCCCCCGCCCTCCGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 NA18962.hp1 HG02135.hp1 NA18962.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0005 a0002c0004 a0004c0005	a0002c0004t0012 a0004c0005t0012 a0002c0004t0012 a0004c0005t0012	a0002c0004t0012g0346 a0004c0005t0012g0344 a0002c0004t0012g0346 a0004c0005t0012g0344	2	318	0.0063	19	c.14 others(32): Show c.14304_*14305insCCCCCCGCCCTCCGCCCCG	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding		2332		chr5	TogoVar
POLQ_chr3_121426431_121550988	121522284	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19000.hp2 HG00621.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0001t0001g0213 a0001c0001t0001g0233	2	38	0.0526	19	c.110 others(36): Show c.1109-154_1109-136dupAAAAAAAAAAAAAAAAAAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29			chr3	TogoVar
POLR1E_chr9_37480948_37508697	37490619	G G	GTGCTCAA others(12): Show GTGCTCAATACGCACACTAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	406	0.0025	19	c.343 others(36): Show c.343+1221_343+1239dupGCTCAATACGCACACTAAT	POLR1E	ENSG00000137054.16	transcript	ENST00000377798.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
POLR1G_chr19_45401644_45415737	45410565	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0060 a0003c0003t0060	a0003c0003t0060g0001 a0003c0003t0060g0001	1	113	0.0088	19	c.10 others(30): Show c.1064_*1065insGTGTGTGTGTGTGTGTGTG	POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3	1065		chr19	TogoVar
POLR2B_chr4_56973896_57036158	57002584	A A	ATATCACT others(12): Show ATATCACTTTGATTTACTGT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	380	0.0026	19	c.901 others(36): Show c.901-2661_901-2643dupTATCACTTTGATTTACTGT	POLR2B	ENSG00000047315.17	transcript	ENST00000314595.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr4	TogoVar
POLR2D_chr2_127838553_127863155	127844107	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 NA19030.hp1 HG01175.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0059 a0001c0001t0042 a0001c0001t0059	a0001c0001t0042g0192 a0001c0001t0059g0193 a0001c0001t0042g0192 a0001c0001t0059g0193	2	133	0.0150	19	c.39 others(30): Show c.3981_*3999dupTTTTTTTTTTTTTTTTTTT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	4/4	3999		chr2	TogoVar
POLR2D_chr2_127838553_127863155	127850440	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0076 a0001c0001t0066g0076	1	119	0.0084	19	c.350 others(34): Show c.350+131_350+149dupTTTTTTTTTTTTTTTTTTT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	3/3			chr2	TogoVar
POLR2D_chr2_127838553_127863155	127856290	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01175.hp2 HG02083.hp1 others(13): Show HG00408.hp2 HG01175.hp2 HG02083.hp1 HG02083.hp2 HG02257.hp2 HG02818.hp2 HG03139.hp1 NA18957.hp2 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18983.hp1 NA19030.hp1 NA19072.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0030 a0001c0001t0042 a0001c0001t0043 a0001c0001t0059 a0001c0001t0077	a0001c0001t0001g0033 a0001c0001t0001g0183 a0001c0001t0001g0185 others(12): Show a0001c0001t0001g0033 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0004g0184 a0001c0001t0004g0189 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0019g0191 a0001c0001t0030g0187 a0001c0001t0042g0192 a0001c0001t0043g0194 a0001c0001t0059g0193 a0001c0001t0077g0186	16	20	0.8000	19	c.73+ others(34): Show c.73+1719_73+1737dupTTTTTTTTTTTTTTTTTTT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	1/3			chr2	TogoVar
POLR2E_chr19_1081574_1100375	1085510	T T	TCCATCTC others(12): Show TCCATCTCTCCTGTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(95): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG03017.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18946.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18990.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19081.hp1 NA19087.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(13): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0032 a0001c0001t0046 a0001c0001t0067 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0107 a0001c0001t0108	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0029 others(39): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0121 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0145 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0169 a0001c0001t0002g0178 a0001c0001t0002g0203 a0001c0001t0002g0222 a0001c0001t0002g0241 a0001c0001t0006g0010 a0001c0001t0006g0012 a0001c0001t0006g0041 a0001c0001t0006g0091 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0008g0006 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0011g0074 a0001c0001t0013g0014 a0001c0001t0014g0013 a0001c0001t0014g0030 a0001c0001t0014g0143 a0001c0001t0019g0017 a0001c0001t0032g0140 a0001c0001t0032g0142 a0001c0001t0032g0208 a0001c0001t0046g0051 a0001c0001t0067g0111 a0001c0001t0102g0188 a0001c0001t0103g0240 a0001c0001t0104g0141 a0001c0001t0105g0146 a0001c0001t0107g0166 a0001c0001t0108g0167	98	434	0.2258	19	c.32 others(30): Show c.3206_*3224dupGGAGAGACAGGAGAGATGG	POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding		1063		chr19	TogoVar
POLR2M_chr15_57701714_57722557	57713820	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	42	0.0238	19	c.964 others(34): Show c.964-695_964-677dupTTTTTTTTTTTTTTTTTTT	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
POLR3C_chr1_145819200_145849402	145821457	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	61	0.0164	19	c.-29 others(30): Show c.-2933_-2932insTTTTTTTTTTTTTTTTTTT	POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding		2742		chr1	TogoVar
POLR3C_chr1_145819200_145849402	145842809	A A	AGATAGAT others(12): Show AGATAGATAGATAGATAGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0016 a0001c0001t0036g0016	1	347	0.0029	19	c.39 others(28): Show c.397_*398insGATAGATAGATGATAGATA	POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding	15/15	398	INFO_REALIGN_3_PRIME	chr1	TogoVar
POLR3GL_chr1_145959690_145983848	145981608	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02717.hp1 HG02486.hp2 HG02559.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0076 a0001c0001t0001g0022 a0001c0001t0001g0076	3	343	0.0087	19	c.31 others(30): Show c.3161_*3162insAAAAAAAAAAAAAAAAAAA	POLR3GL	ENSG00000121851.13	transcript	ENST00000369314.2	protein_coding		2761		chr1	TogoVar
POLR3G_chr5_90469864_90519557	90475486	A A	ATTATTAT others(12): Show ATTATTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02622.hp2 HG03041.hp1 HG01496.hp2 HG02622.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029	a0001c0001t0027g0041 a0001c0001t0028g0039 a0001c0001t0029g0040 a0001c0001t0027g0041 a0001c0001t0028g0039 a0001c0001t0029g0040	3	358	0.0084	19	c.-44 others(34): Show c.-44+471_-44+472insATTTATTTATTTATTTATT	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3G_chr5_90469864_90519557	90478569	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0238	1	101	0.0099	19	c.-44 others(36): Show c.-44+3566_-44+3567insTTTTTTTTTTTTTTTTTTT	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3K_chr16_41407_58608	44314	A A	ACACACAC others(12): Show ACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	7	0.1429	19	c.31 others(30): Show c.3115_*3116insGTGTGTGTGTGTGTGTGTG	POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding		2092		chr16	TogoVar
POLR3K_chr16_41407_58608	44341	A A	ACACACAC others(12): Show ACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18994.hp2 NA18964.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0002g0125 a0001c0001t0001g0103 a0001c0001t0002g0125	2	430	0.0047	19	c.30 others(30): Show c.3088_*3089insGTGTGTGTGTGTGTGTGTG	POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding		2065		chr16	TogoVar
POLRMT_chr19_612221_638537	626696	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0002 a0002c0030t0002	a0002c0030t0002g0190 a0002c0030t0002g0190	1	167	0.0060	19	c.823 others(36): Show c.823-1443_823-1442insTTTTTTTTTTTTTTTTTTT	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20			chr19	TogoVar
POLRMT_chr19_612221_638537	626696	C C	CAAATAAA others(12): Show CAAATAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03225.hp2 HG03041.hp2 HG03225.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0010 a0002c0013t0002 a0002c0013t0010	a0002c0013t0002g0259 a0002c0013t0010g0262 a0002c0013t0002g0259 a0002c0013t0010g0262	2	168	0.0119	19	c.823 others(36): Show c.823-1443_823-1442insTTTTTTTTTTTTTTTATTT	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20			chr19	TogoVar
POMGNT1_chr1_46183683_46203434	46202920	G G	GGGGGGTG others(12): Show GGGGGGTGGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	237	0.0042	19	c.-46 others(30): Show c.-4636_-4635insACACACACACACCACCCCC	POMGNT1	ENSG00000085998.15	transcript	ENST00000371984.8	protein_coding		4487		chr1	TogoVar
POMGNT1_chr1_46183683_46203434	46202920	G G	GGTGGTGT others(12): Show GGTGGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	237	0.0042	19	c.-46 others(30): Show c.-4636_-4635insACACACACACACACACCAC	POMGNT1	ENSG00000085998.15	transcript	ENST00000371984.8	protein_coding		4487		chr1	TogoVar
POMT1_chr9_131497918_131528799	131515847	G G	GCACTTCC others(12): Show GCACTTCCTCTAACACAGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01123.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01192.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0003g0059 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0003g0059	6	319	0.0188	19	c.127 others(36): Show c.1272+334_1272+335insTAACACAGGACACTTCCTC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131515900	G G	GCACTTCC others(12): Show GCACTTCCTCTAACACAGGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02895.hp2 HG02897.hp2 HG01361.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0058 a0001c0001t0003g0023 a0001c0001t0003g0058	3	332	0.0090	19	c.127 others(36): Show c.1272+387_1272+388insTAACACAGGACACTTCCTC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516040	C C	CACACGGA others(12): Show CACACGGAGCACTTCCTCTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG01192.hp1 others(66): Show HG00558.hp2 HG01106.hp1 HG01192.hp1 HG01257.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18967.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18997.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19067.hp2 NA19074.hp2 NA19078.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0015 a0002c0002 a0003c0005 a0003c0018 a0006c0016	a0001c0001t0003 a0001c0003t0002 a0001c0003t0005 others(11): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0012 a0001c0006t0007 a0001c0007t0002 a0001c0010t0013 a0001c0010t0014 a0001c0015t0003 a0002c0002t0002 a0003c0005t0003 a0003c0018t0003 a0006c0016t0003	a0001c0001t0003g0023 a0001c0001t0003g0058 a0001c0001t0003g0059 others(40): Show a0001c0001t0003g0023 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0165 a0001c0003t0002g0047 a0001c0003t0002g0168 a0001c0003t0005g0167 a0001c0003t0006g0050 a0001c0003t0006g0172 a0001c0003t0006g0179 a0001c0003t0006g0181 a0001c0003t0012g0182 a0001c0006t0007g0011 a0001c0007t0002g0051 a0001c0007t0002g0052 a0001c0010t0013g0056 a0001c0010t0014g0055 a0001c0015t0003g0054 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0021 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0169 a0002c0002t0002g0173 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0003c0005t0003g0024 a0003c0005t0003g0025 a0003c0005t0003g0063 a0003c0005t0003g0075 a0003c0005t0003g0091 a0003c0005t0003g0170 a0003c0018t0003g0064 a0006c0016t0003g0164	69	105	0.6571	19	c.127 others(36): Show c.1272+523_1272+541dupGGAGCACTTCCTCTAACAC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516045	G G	GGAGCACT others(12): Show GGAGCACTTCCTCTAACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp1 HG02145.hp1 others(15): Show HG00099.hp1 HG01167.hp1 HG02145.hp1 HG02155.hp1 HG02300.hp1 HG02451.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 NA18966.hp2 NA18972.hp2 NA18984.hp1 NA19007.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0077 a0001c0001t0001g0109 a0001c0001t0001g0138 others(13): Show a0001c0001t0001g0077 a0001c0001t0001g0109 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0062 a0001c0001t0003g0079 a0001c0001t0003g0088 a0001c0001t0003g0101 a0001c0001t0003g0113 a0001c0001t0003g0134	18	105	0.1714	19	c.127 others(36): Show c.1272+525_1272+543dupAGCACTTCCTCTAACACAG	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMZP3_chr7_76604986_76632279	76615973	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0028 a0002c0002t0007g0028	2	166	0.0120	19	c.345 others(36): Show c.345+2209_345+2210insTTTTTTTTTTTTTTTTTTT	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	4/6			chr7	TogoVar
PON1_chr7_95292676_95329532	95302096	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18999.hp1 NA19056.hp2 NA18988.hp1 NA18999.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0276 a0001c0001t0002g0294 a0001c0001t0002g0253 a0001c0001t0002g0276 a0001c0001t0002g0294	3	153	0.0196	19	c.909 others(33): Show c.909+90_909+108dupTTTTTTTTTTTTTTTTTTT	PON1	ENSG00000005421.9	transcript	ENST00000222381.8	protein_coding	8/8			chr7	TogoVar
POPDC2_chr3_119637056_119665589	119640962	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01081.hp1 others(17): Show HG00639.hp2 HG01069.hp1 HG01081.hp1 HG01496.hp2 HG01516.hp2 HG01943.hp1 HG02004.hp1 HG02135.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG03491.hp1 HG06807.hp2 NA18939.hp1 NA18948.hp2 NA18950.hp2 NA18959.hp1 NA18971.hp1 NA19067.hp1 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0006 others(3): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0017 a0002c0002t0002g0066 a0002c0002t0002g0067	20	86	0.2326	19	c.16 others(30): Show c.1624_*1642dupTTTTTTTTTTTTTTTTTTT	POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding		1093		chr3	TogoVar
POPDC2_chr3_119637056_119665589	119662209	G G	GGAAGGAA others(12): Show GGAAGGAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	203	0.0049	19	c.-17 others(30): Show c.-1787_-1786insTTTCTTTCTTTCTTCCTTC	POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding		1621		chr3	TogoVar
POSTN_chr13_37557585_37603768	37567235	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0343 a0001c0001t0010g0343	1	74	0.0135	19	c.243 others(38): Show c.2431+2064_2431+2065insTTTTTTTTTTTTTTTTTTT	POSTN	ENSG00000133110.15	transcript	ENST00000379747.9	protein_coding	21/22			chr13	TogoVar
POT1_chr7_124817386_124934825	124817689	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01070.hp1 others(17): Show HG00099.hp2 HG00323.hp2 HG01070.hp1 HG01099.hp1 HG01175.hp2 HG01884.hp2 HG02074.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02818.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp2 HG03471.hp1 HG03492.hp2 NA18747.hp2 NA18939.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0209 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0008g0261	20	71	0.2817	19	c.62 others(30): Show c.6272_*6273insAAAAAAAAAAAAAAAAAAA	POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding		4696		chr7	TogoVar
POTEC_chr18_14502339_14548600	14516296	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0015 a0008c0010t0015	a0008c0010t0015g0197 a0008c0010t0015g0197	1	275	0.0036	19	c.141 others(38): Show c.1410-2512_1410-2511insTATATATATATATATATAT	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	9/10			chr18	TogoVar
POTED_chr21_13604777_13650823	13637004	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	386	0.0026	19	c.141 others(38): Show c.1410-2510_1410-2509insATATATATATATATATATT	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02572.hp2 others(5): Show HG02145.hp1 HG02145.hp2 HG02572.hp2 HG03486.hp1 NA18985.hp1 NA18986.hp2 NA19030.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0003 a0001c0003t0017 a0001c0001t0007 a0001c0003t0003 a0001c0003t0017	a0001c0001t0007g0016 a0001c0001t0007g0150 a0001c0003t0003g0008 others(1): Show a0001c0001t0007g0016 a0001c0001t0007g0150 a0001c0003t0003g0008 a0001c0003t0017g0034	8	139	0.0576	19	c.47 others(30): Show c.4721_*4722insAAAAAAAAAAAAAACACAC	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		465		chr21	TogoVar
POTEE_chr2_131204536_131270278	131255565	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0028 a0028	a0028c0046 a0028c0046	a0028c0046t0014 a0028c0046t0014	a0028c0046t0014g0092 a0028c0046t0014g0092	1	251	0.0040	19	c.177 others(38): Show c.1778+2470_1778+2488dupTTTTTTTTTTTTTTTTTTT	POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
POU2AF2_chr11_111240725_111291401	111276439	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	360	0.0028	19	c.121 others(36): Show c.121-4944_121-4943insAAAAAAAAAAAAAAAAAAA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03669.hp2 HG00544.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0204 a0001c0001t0002g0239 a0001c0001t0001g0204 a0001c0001t0002g0239	2	126	0.0159	19	c.121 others(36): Show c.121-4944_121-4943insAAAAAAATATATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	125	0.0080	19	c.121 others(36): Show c.121-4944_121-4943insAAAAATATATATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	125	0.0080	19	c.121 others(36): Show c.121-4944_121-4943insAAATATATATATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	116	0.0086	19	c.121 others(36): Show c.121-1340_121-1339insAAAAATATATATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19057.hp1 NA19056.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0049 a0001c0001t0001g0050	2	117	0.0171	19	c.121 others(36): Show c.121-1340_121-1339insAAATATATATATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	116	0.0086	19	c.121 others(36): Show c.121-1340_121-1339insATATATATATATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU6F2_chr7_38972909_39473601	39246905	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02896.hp2 HG00741.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0019 a0001c0005t0013 a0001c0002t0019 a0001c0005t0013	a0001c0002t0019g0052 a0001c0005t0013g0081 a0001c0002t0019g0052 a0001c0005t0013g0081	2	46	0.0435	19	c.598 others(38): Show c.598+39290_598+39308dupTTTTTTTTTTTTTTTTTTT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPA1_chr10_70197835_70238429	70221055	A A	ATTTTTAT others(12): Show ATTTTTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	372	0.0027	19	c.124 others(36): Show c.124-2239_124-2238insATATATATATATATAAAAA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPA1_chr10_70197835_70238429	70221076	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	100	0.0100	19	c.124 others(36): Show c.124-2260_124-2259insAAAAAAAAATATATATATA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPA1_chr10_70197835_70238429	70221076	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	100	0.0100	19	c.124 others(36): Show c.124-2260_124-2259insAAAAAAAAAAATATATATA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPA1_chr10_70197835_70238429	70221076	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG00733.hp2 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0080 a0001c0001t0001g0004 a0001c0001t0001g0080	2	101	0.0198	19	c.124 others(36): Show c.124-2260_124-2259insAAAAAAAAAAAAATATATA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPA2_chr4_105364077_105479062	105450601	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01192.hp2 HG02056.hp2 others(5): Show HG00408.hp1 HG01192.hp2 HG02056.hp2 HG03225.hp2 NA18952.hp2 NA18977.hp1 NA19082.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0002g0020 others(5): Show a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0026 a0002c0002t0002g0033 a0002c0002t0002g0086 a0002c0002t0002g0167	8	70	0.1143	19	c.268 others(36): Show c.268-1217_268-1199dupAAAAAAAAAAAAAAAAAAA	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	3/11			chr4	TogoVar

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