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
PI4KA_chr22_20702691_20863811	20780775	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	136	0.0074	17	c.232 others(38): Show c.2328+12417_2328+12418insTTTTTTTTTTTTTTTTT	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	19/54			chr22	TogoVar
PI4KA_chr22_20702691_20863811	20780789	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	332	0.0030	17	c.232 others(38): Show c.2328+12403_2328+12404insCTTTTTTTTTTTTTTTT	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	19/54			chr22	TogoVar
PIAS1_chr15_68049315_68198847	68065915	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	95	0.0105	17	c.24+ others(34): Show c.24+11577_24+11593dupTTTTTTTTTTTTTTTTT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68179564	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18943.hp1 NA18974.hp2 HG01167.hp1 NA18943.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0149 a0001c0001t0003g0171 a0001c0001t0003g0126 a0001c0001t0003g0149 a0001c0001t0003g0171	3	32	0.0938	17	c.148 others(36): Show c.1482-1636_1482-1620dupTTTTTTTTTTTTTTTTT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp1 NA18948.hp1 HG01169.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0127 a0001c0001t0002 a0001c0001t0127	a0001c0001t0002g0284 a0001c0001t0127g0042 a0001c0001t0002g0284 a0001c0001t0127g0042	2	42	0.0476	17	c.50 others(28): Show c.5049_*5050insAAAAAAATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807384	T T	TATATATA others(10): Show TATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0239 a0001c0001t0049g0239	1	313	0.0032	17	c.50 others(28): Show c.5048_*5049insTATATATATATATATAT	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5048		chr18	TogoVar
PIAS4_chr19_4002736_4044386	4005666	A A	ATAAAAGA others(10): Show ATAAAAGAGAAAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	332	0.0030	17	c.-20 others(28): Show c.-2095_-2094insTAAAAGAGAAAATGGGC	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding		2069		chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011673	G G	GGGGGTGT others(10): Show GGGGGTGTGGAGGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	160	0.0063	17	c.28- others(32): Show c.28-1079_28-1063dupGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011809	T T	TTTGGTGT others(10): Show TTTGGTGTGGAGGTGTGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0196 a0001c0002t0006g0196	1	327	0.0031	17	c.28- others(32): Show c.28-1114_28-1113insTTGGTGTGGAGGTGTGG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10			chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011872	C C	CTGTGGGG others(10): Show CTGTGGGGTGTGGAGGTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	182	0.0055	17	c.28- others(32): Show c.28-1048_28-1032dupTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011892	G G	GGGGGTGT others(10): Show GGGGGTGTGGAGGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(65): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02630.hp1 HG02683.hp2 HG02738.hp1 HG02818.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp2 NA18944.hp1 NA18970.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18994.hp2 NA19007.hp1 NA19059.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0013	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 others(10): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0002t0018 a0001c0006t0004 a0001c0008t0005 a0002c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0215 a0001c0001t0009g0073 a0001c0001t0009g0076 a0001c0001t0014g0081 a0001c0001t0022g0060 a0001c0002t0001g0117 a0001c0002t0001g0179 a0001c0002t0001g0194 a0001c0002t0002g0131 a0001c0002t0003g0190 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0004g0171 a0001c0002t0004g0203 a0001c0002t0010g0115 a0001c0002t0018g0125 a0001c0006t0004g0031 a0001c0008t0005g0061 a0002c0013t0001g0015	68	116	0.5862	17	c.28- others(30): Show c.28-860_28-844dupGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011895	G G	TGTGTGGA others(10): Show TGTGTGGAGGTGTGTGGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18966.hp1 NA18968.hp2 others(1): Show HG02083.hp1 NA18966.hp1 NA18968.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0133 a0001c0001t0001g0134 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135	4	332	0.0120	17	c.28- others(32): Show c.28-1029_28-1028insTGTGTGGAGGTGTGTGG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10			chr19	TogoVar
PIAS4_chr19_4002736_4044386	4036388	A A	ATCCATAT others(10): Show ATCCATATAGTCCACACG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp2 HG01515.hp1 others(4): Show HG01192.hp2 HG01256.hp2 HG01515.hp1 HG02602.hp2 HG02738.hp1 HG03491.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0001t0001 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0089 a0001c0001t0001g0124 a0001c0003t0001g0205 others(4): Show a0001c0001t0001g0089 a0001c0001t0001g0124 a0001c0003t0001g0205 a0001c0007t0001g0027 a0001c0007t0001g0219 a0001c0007t0001g0221 a0001c0007t0001g0268	7	332	0.0211	17	c.114 others(34): Show c.1143-986_1143-985insTCCATATAGTCCACACG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10			chr19	TogoVar
PIBF1_chr13_72777133_73021461	72858023	T T	TTGCTTTT others(10): Show TTGCTTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG03209.hp1 others(14): Show HG00408.hp1 HG00544.hp1 HG03209.hp1 HG03654.hp2 HG03710.hp1 HG04228.hp1 NA18944.hp1 NA18950.hp2 NA18955.hp2 NA18961.hp1 NA18970.hp2 NA18983.hp2 NA18988.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0196 others(14): Show a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0291 a0001c0001t0001g0300 a0001c0001t0001g0313	17	39	0.4359	17	c.132 others(36): Show c.1322+3870_1322+3871insCTTTTTGTGTGTGTGTG	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03486.hp2 NA19004.hp1 HG00099.hp1 HG03486.hp2 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0020 a0001c0001t0001g0328 a0002c0002t0002g0223 a0001c0001t0001g0020 a0001c0001t0001g0328 a0002c0002t0002g0223	3	18	0.1667	17	c.148 others(36): Show c.1489-4089_1489-4073dupTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	73001582	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG01358.hp1 others(22): Show HG00280.hp1 HG00558.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG03579.hp1 NA18952.hp1 NA18954.hp1 NA18977.hp2 NA18983.hp1 NA18986.hp2 NA19004.hp2 NA19043.hp2 NA19060.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0029 a0001c0001t0001g0056 a0001c0001t0001g0059 others(22): Show a0001c0001t0001g0029 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0092 a0002c0002t0002g0198	25	31	0.8065	17	c.222 others(36): Show c.2223+2589_2223+2605dupTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	73010810	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0001 a0002c0012t0002g0001	1	29	0.0345	17	c.222 others(36): Show c.2224-5045_2224-5029dupTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PICALM_chr11_85952175_86074084	85982423	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0278 a0001c0002t0005g0278	1	73	0.0137	17	c.151 others(34): Show c.1517-421_1517-420insAAAAAAAAAAAAAAAAA	PICALM	ENSG00000073921.18	transcript	ENST00000393346.8	protein_coding	14/19			chr11	TogoVar
PID1_chr2_229018973_229276287	229134231	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	29	0.0345	17	c.177 others(36): Show c.177+21570_177+21586dupAAAAAAAAAAAAAAAAA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229138451	C C	CCCATTTG others(10): Show CCCATTTGACTTGGGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	254	0.0039	17	c.177 others(36): Show c.177+17350_177+17366dupTCACCCAAGTCAAATGG	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10737292	A A	AAAAACAA others(10): Show AAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp2 HG02258.hp1 HG03486.hp2	a0001 a0013 a0001 a0013	a0001c0044 a0013c0036 a0001c0044 a0013c0036	a0001c0044t0002 a0013c0036t0002 a0001c0044t0002 a0013c0036t0002	a0001c0044t0002g0074 a0013c0036t0002g0035 a0001c0044t0002g0074 a0013c0036t0002g0035	2	158	0.0127	17	c.470 others(34): Show c.4709-583_4709-582insGTTTTTTTTTTTGTTTT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	33/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10809260	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG03540.hp2 HG02451.hp1 HG02630.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0002c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0001t0002	a0001c0002t0001g0132 a0001c0002t0002g0092 a0002c0001t0002g0028 a0001c0002t0001g0132 a0001c0002t0002g0092 a0002c0001t0002g0028	3	54	0.0556	17	c.918 others(34): Show c.918-2003_918-1987dupAAAAAAAAAAAAAAAAA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	7/55			chr18	TogoVar
PIF1_chr15_64810632_64830647	64826624	T T	TATATATA others(10): Show TATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0040 a0006c0008t0003g0040	1	290	0.0034	17	c.-10 others(28): Show c.-1076_-1075insTATATATATATATATAT	PIF1	ENSG00000140451.13	transcript	ENST00000559239.2	protein_coding		978		chr15	TogoVar
PIGL_chr17_16212210_16331411	16216786	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG03704.hp1 NA18990.hp1 HG00323.hp1 HG03704.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0018 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0001g0018 a0001c0001t0003g0027 a0001c0001t0003g0028	3	102	0.0294	17	c.-44 others(26): Show c.-441_-440insAAAAAAAAAAAAAAAAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding		423		chr17	TogoVar
PIGL_chr17_16212210_16331411	16246672	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp2 HG03540.hp1 HG02622.hp1 HG02976.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0134 a0001c0001t0003g0124 a0001c0001t0003g0133 a0001c0001t0001g0134 a0001c0001t0003g0124 a0001c0001t0003g0133	3	109	0.0275	17	c.335 others(36): Show c.335+12610_335+12626dupTTTTTTTTTTTTTTTTT	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGL_chr17_16212210_16331411	16311467	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02280.hp2 HG02559.hp2 others(7): Show HG01361.hp1 HG02280.hp2 HG02559.hp2 HG02717.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0100 others(7): Show a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0002g0073	10	12	0.8333	17	c.427 others(34): Show c.427-2066_427-2065insTTTTTTTTTTTTTTTTT	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGN_chr18_62036164_62192056	62062882	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02015.hp1 NA18964.hp1 others(1): Show HG00733.hp2 HG02015.hp1 NA18964.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0080 a0002c0002t0002g0099 a0002c0002t0002g0100 others(1): Show a0002c0002t0002g0080 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0008g0044	4	45	0.0889	17	c.267 others(36): Show c.2672+9774_2672+9790dupAAAAAAAAAAAAAAAAA	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGP_chr21_37060374_37078071	37076694	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	135	0.0074	17	c.-37 others(28): Show c.-3734_-3718dupAAAAAAAAAAAAAAAAA	PIGP	ENSG00000185808.14	transcript	ENST00000360525.9	protein_coding		3624		chr21	TogoVar
PIGQ_chr16_564968_589109	569850	C C	CCGGGCCT others(10): Show CCGGGCCTGGGGACTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA18964.hp2 NA18988.hp1 others(1): Show HG02080.hp2 NA18964.hp2 NA18988.hp1 NA19089.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0024 a0002c0001t0001g0172 a0002c0001t0001g0180 others(1): Show a0002c0001t0001g0024 a0002c0001t0001g0172 a0002c0001t0001g0180 a0002c0001t0001g0193	4	406	0.0099	17	c.-25 others(26): Show c.-256_-255insCGGGCCTGGGGACTGGG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		117		chr16	TogoVar
PIGS_chr17_28548387_28576524	28553975	A A	AAGGAGAC others(10): Show AAGGAGACCCGGATGATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0091 a0001c0001t0016g0091	1	328	0.0030	17	c.22 others(26): Show c.228_*244dupCATCATCCGGGTCTCCT	PIGS	ENSG00000087111.22	transcript	ENST00000308360.8	protein_coding	12/12	244		chr17	TogoVar
PIGX_chr3_196707377_196741007	196717300	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG01256.hp1 others(8): Show HG00408.hp1 HG00673.hp2 HG01256.hp1 HG02071.hp2 HG02129.hp1 HG04115.hp2 NA18747.hp2 NA18965.hp1 NA18968.hp1 NA18979.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025	a0001c0001t0005g0169 a0001c0001t0006g0010 a0001c0001t0006g0172 others(7): Show a0001c0001t0005g0169 a0001c0001t0006g0010 a0001c0001t0006g0172 a0001c0001t0007g0168 a0001c0001t0008g0010 a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0001t0010g0010 a0001c0001t0010g0167 a0001c0001t0025g0010	11	228	0.0482	17	c.176 others(32): Show c.176+386_176+387insAAAAAAAAAAAAAAAAA	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGX_chr3_196707377_196741007	196735294	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02723.hp2 others(8): Show HG01261.hp2 HG01891.hp2 HG02723.hp2 HG04228.hp2 NA18956.hp1 NA18967.hp2 NA18993.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0001t0053 a0001c0003t0011 a0001c0001t0011 a0001c0001t0053 a0001c0003t0011	a0001c0001t0011g0001 a0001c0001t0011g0041 a0001c0001t0011g0124 others(4): Show a0001c0001t0011g0001 a0001c0001t0011g0041 a0001c0001t0011g0124 a0001c0001t0011g0142 a0001c0001t0053g0001 a0001c0003t0011g0145 a0001c0003t0011g0157	11	83	0.1325	17	c.14 others(28): Show c.1406_*1422dupAAAAAAAAAAAAAAAAA	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	6/6	1423	INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGY_chr4_88515998_88528776	88516483	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	37	0.0270	17	c.50 others(28): Show c.5090_*5091insTTTTTTTTTTTTTTTTT	PIGY	ENSG00000255072.2	transcript	ENST00000527353.2	protein_coding		4514		chr4	TogoVar
PIGZ_chr3_196941356_196973833	196960735	A A	AGAGAGAA others(10): Show AGAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0129 a0001c0004t0001g0129	1	421	0.0024	17	c.-1+ others(32): Show c.-1+7951_-1+7952insCTTTCTTTCTTTCTCTC	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	1/2			chr3	TogoVar
PIGZ_chr3_196941356_196973833	196960737	G G	GAAGAAAG others(10): Show GAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0022 a0022	a0022c0036 a0022c0036	a0022c0036t0001 a0022c0036t0001	a0022c0036t0001g0141 a0022c0036t0001g0141	1	77	0.0130	17	c.-1+ others(32): Show c.-1+7949_-1+7950insTTCTTTCTTTCTTTCTT	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	1/2			chr3	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	91	0.0110	17	c.18 others(26): Show c.185_*186insATTTTTTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 NA19010.hp1 HG02145.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0003 a0001c0001t0001g0010	2	92	0.0217	17	c.18 others(26): Show c.185_*186insATATATTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	91	0.0110	17	c.18 others(26): Show c.185_*186insATATATATTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	91	0.0110	17	c.18 others(26): Show c.185_*186insATATATATATATTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIK3AP1_chr10_96588315_96725514	96629930	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA20129.hp2 HG02572.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0013 a0002c0002t0001g0092 a0001c0001t0001g0013 a0002c0002t0001g0092	2	26	0.0769	17	c.137 others(36): Show c.1376-1438_1376-1437insCTTCTTTTTTTTTTTTT	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	8/16			chr10	TogoVar
PIK3AP1_chr10_96588315_96725514	96692575	A A	AAAAAAAA others(10): Show AAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0007 a0001c0009t0003g0007	1	254	0.0039	17	c.430 others(36): Show c.430+16975_430+16991dupCTTTCTTTCTTTTTTTT	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	2/16			chr10	TogoVar
PIK3AP1_chr10_96588315_96725514	96693470	T T	TGGATGGA others(10): Show TGGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0032 a0001c0006t0006g0032	1	254	0.0039	17	c.430 others(36): Show c.430+16096_430+16097insCATCCATCCATCCATCC	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	2/16			chr10	TogoVar
PIK3AP1_chr10_96588315_96725514	96711739	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02818.hp1 HG02486.hp1 HG02559.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0008 a0002c0002 a0002c0005 a0002c0008	a0002c0002t0001 a0002c0005t0005 a0002c0008t0004 a0002c0002t0001 a0002c0005t0005 a0002c0008t0004	a0002c0002t0001g0226 a0002c0005t0005g0093 a0002c0008t0004g0078 a0002c0002t0001g0226 a0002c0005t0005g0093 a0002c0008t0004g0078	3	31	0.0968	17	c.14- others(32): Show c.14-1773_14-1757dupAAAAAAAAAAAAAAAAA	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	1/16			chr10	TogoVar
PIK3C2G_chr12_18256518_18653416	18292227	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0120 a0002c0002t0002g0120	1	59	0.0169	17	c.919 others(34): Show c.919+1216_919+1217insAAAAAAAAATATATATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18292227	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0099 a0002c0026t0001g0099	1	59	0.0169	17	c.919 others(34): Show c.919+1216_919+1217insAAATATATATATATATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18292227	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0141 a0001c0008t0001g0141	1	59	0.0169	17	c.919 others(34): Show c.919+1215_919+1216insTATATATATATATATAT	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	4/32			chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18399194	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG01496.hp1 others(4): Show HG00140.hp1 HG00621.hp2 HG01496.hp1 HG03098.hp2 HG03669.hp1 NA18995.hp2 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0008 a0002c0002 a0002c0024 others(2): Show a0001c0008 a0002c0002 a0002c0024 a0003c0014 a0009c0046	a0001c0008t0001 a0002c0002t0001 a0002c0024t0001 others(2): Show a0001c0008t0001 a0002c0002t0001 a0002c0024t0001 a0003c0014t0001 a0009c0046t0001	a0001c0008t0001g0024 a0001c0008t0001g0141 a0001c0008t0001g0142 others(4): Show a0001c0008t0001g0024 a0001c0008t0001g0141 a0001c0008t0001g0142 a0002c0002t0001g0130 a0002c0024t0001g0128 a0003c0014t0001g0138 a0009c0046t0001g0043	7	125	0.0560	17	c.212 others(34): Show c.2127-449_2127-448insAAAAAAAAAAAAAAAAA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3CA_chr3_179143357_179245093	179231630	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	66	0.0152	17	c.293 others(36): Show c.2936+1266_2936+1282dupTTTTTTTTTTTTTTTTT	PIK3CA	ENSG00000121879.6	transcript	ENST00000263967.4	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIK3CB_chr3_138647698_138839928	138705155	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	166	0.0060	17	c.153 others(34): Show c.1531-679_1531-663dupTTTTTTTTTTTTTTTTT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	11/23			chr3	TogoVar
PIK3CB_chr3_138647698_138839928	138744392	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02922.hp1 HG00323.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0160 a0001c0001t0007g0013 a0001c0001t0001g0160 a0001c0001t0007g0013	2	71	0.0282	17	c.398 others(34): Show c.398-1628_398-1612dupTTTTTTTTTTTTTTTTT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	4/23			chr3	TogoVar

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