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
PKP3_chr11_389209_409908	401397	C C	CGCCCCGC others(40): Show CGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACACCCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	178	0.0056	47	c.173 others(64): Show c.1737+703_1737+704insCCCCGCCCCGCTCACCCCGGACCCCGCT CACACCCGGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402828	G G	GCCCCGCT others(40): Show GCCCCGCTCACCCCGGGACCCGCTCACCCCGACCCCGCTCACCCCGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG01256.hp1 others(43): Show HG00544.hp1 HG00639.hp1 HG01256.hp1 HG01261.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02683.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03492.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp2 NA18612.hp1 NA18906.hp2 NA18945.hp2 NA18952.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA19004.hp1 NA19065.hp1 NA19065.hp2 NA19079.hp2 NA19085.hp2 NA19087.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0010 a0012 a0019	a0001c0002 a0001c0003 a0001c0010 others(6): Show a0001c0002 a0001c0003 a0001c0010 a0001c0016 a0002c0013 a0009c0033 a0010c0017 a0012c0020 a0019c0032	a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 others(6): Show a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 a0001c0016t0001 a0002c0013t0001 a0009c0033t0001 a0010c0017t0001 a0012c0020t0001 a0019c0032t0001	a0001c0002t0001g0004 a0001c0002t0001g0100 a0001c0002t0001g0104 others(42): Show a0001c0002t0001g0004 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0133 a0001c0002t0001g0138 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0159 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0099 a0001c0003t0001g0105 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0142 a0001c0003t0001g0147 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0158 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0166 a0001c0010t0001g0030 a0001c0016t0001g0200 a0001c0016t0001g0201 a0002c0013t0001g0108 a0002c0013t0001g0109 a0002c0013t0001g0175 a0009c0033t0001g0160 a0010c0017t0001g0106 a0012c0020t0001g0024 a0019c0032t0001g0144	46	179	0.2570	47	c.173 others(64): Show c.1738-237_1738-236insGGGACCCGCTCACCCCGACCCCGCTCAC CCCGGACCCCGCTCACCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	403015	C C	CCCCCGCC others(40): Show CCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCACTCACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00639.hp1 others(37): Show HG00099.hp2 HG00544.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01256.hp1 HG01261.hp1 HG01952.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03453.hp1 HG06807.hp1 NA18906.hp2 NA18945.hp2 NA18952.hp2 NA18970.hp2 NA19004.hp1 NA19065.hp2 NA19079.hp2 NA19085.hp2 NA19087.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0001c0003 a0001c0010 others(4): Show a0001c0002 a0001c0003 a0001c0010 a0001c0016 a0001c0036 a0002c0013 a0012c0020	a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 a0001c0010t0003 a0001c0016t0001 a0001c0036t0001 a0002c0013t0001 a0012c0020t0001	a0001c0002t0001g0004 a0001c0002t0001g0100 a0001c0002t0001g0103 others(36): Show a0001c0002t0001g0004 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0110 a0001c0002t0001g0118 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0138 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0164 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0155 a0001c0010t0001g0030 a0001c0010t0003g0021 a0001c0010t0003g0022 a0001c0016t0001g0200 a0001c0016t0001g0201 a0001c0036t0001g0165 a0002c0013t0001g0108 a0002c0013t0001g0109 a0002c0013t0001g0175 a0012c0020t0001g0024	40	187	0.2139	47	c.173 others(62): Show c.1738-60_1738-59insCGCCCCGCTCACCCCGGACCCCGCTCACCC CCGCCCCACTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615017	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATGTATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	336	0.0030	47	c.-68 others(56): Show c.-688_-687insATACATACATATATATATATATATATATATATATAT ATATATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		585		chr11	TogoVar
PLEKHA5_chr12_19124733_19381400	19372279	T T	TTTTTTGC others(40): Show TTTTTTGCAGAGATGGAGTTTTCACCATGTTGCCCAGGCTGATCTCAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	314	0.0032	47	c.11 others(64): Show c.11+2481_*11+2482insTTTTTGCAGAGATGGAGTTTTCACCATG TTGCCCAGGCTGATCTCAA	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	31/31			chr12	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(40): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0021 a0004c0012t0021	a0004c0012t0021g0305 a0004c0012t0021g0305	1	193	0.0052	47	c.212 others(66): Show c.2126-3738_2126-3737insGAGAGAGAGAGAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(40): Show GAGAAAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	193	0.0052	47	c.212 others(66): Show c.2126-3741_2126-3740insGAGAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLIN4_chr19_4497192_4523486	4509316	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAACAAAAAAAAACAAAAAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01167.hp1 others(22): Show HG00099.hp1 HG00280.hp2 HG01167.hp1 HG01255.hp1 HG01515.hp2 HG02300.hp2 HG02698.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04228.hp1 NA18983.hp2 NA19005.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19088.hp1 NA20752.hp1	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0019 a0039	a0001c0003 a0001c0006 a0001c0007 others(8): Show a0001c0003 a0001c0006 a0001c0007 a0001c0016 a0001c0017 a0001c0078 a0006c0037 a0006c0094 a0007c0036 a0019c0081 a0039c0098	a0001c0003t0003 a0001c0003t0004 a0001c0006t0001 others(10): Show a0001c0003t0003 a0001c0003t0004 a0001c0006t0001 a0001c0007t0003 a0001c0007t0004 a0001c0016t0004 a0001c0017t0001 a0001c0078t0004 a0006c0037t0003 a0006c0094t0004 a0007c0036t0004 a0019c0081t0004 a0039c0098t0003	a0001c0003t0003g0019 a0001c0003t0003g0233 a0001c0003t0004g0018 others(16): Show a0001c0003t0003g0019 a0001c0003t0003g0233 a0001c0003t0004g0018 a0001c0003t0004g0229 a0001c0003t0004g0230 a0001c0006t0001g0099 a0001c0007t0003g0194 a0001c0007t0003g0195 a0001c0007t0003g0196 a0001c0007t0004g0193 a0001c0007t0004g0269 a0001c0016t0004g0139 a0001c0017t0001g0030 a0001c0078t0004g0142 a0006c0037t0003g0053 a0006c0094t0004g0251 a0007c0036t0004g0239 a0019c0081t0004g0272 a0039c0098t0003g0252	25	391	0.0639	47	c.351 others(64): Show c.3515-362_3515-361insGTTTGTTTGTTTGTTTTTTTGTTTTTTT TTGTTTTTTTTTTTTTTTT	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/7			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4509316	A A	AAAAAAAC others(40): Show AAAAAAACAAAAAAAAACAAAAAAAAACAAAAAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0140 a0001c0016t0003g0140	1	367	0.0027	47	c.351 others(64): Show c.3515-362_3515-361insGTTTGTTTGTTTGTTTTTTTGTTTTTTT TTGTTTTTTTTTGTTTTTT	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/7			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4509316	A A	AAAACAAA others(40): Show AAAACAAAAAAAAAAAACAAAAAAAAAAAAAAAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0232 a0001c0003t0004g0232	1	367	0.0027	47	c.351 others(64): Show c.3515-362_3515-361insGTTTGTTTGTTTGTTTTTTTTTTTTTTT TTGTTTTTTTTTTTTGTTT	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/7			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4509320	A A	AAACAAAA others(40): Show AAACAAAAAAAAACAAAAAAAAACAAAAAAACAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0145 a0001c0003t0004g0145	1	410	0.0024	47	c.351 others(64): Show c.3515-366_3515-365insGTTTGTTTGTTTGTTTGTTTTTTTGTTT TTTTTTGTTTTTTTTTGTT	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/7			chr19	TogoVar
PLK3_chr1_44795377_44810990	44795690	T T	TATAAATA others(40): Show TATAAATATATAAATATATATAAATATATATAAATATATAATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0026	47	c.-47 others(58): Show c.-4774_-4773insATAAATATATAAATATATATAAATATATATAAAT ATATAATATATAA	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4686		chr1	TogoVar
PLK3_chr1_44795377_44810990	44796270	A A	AAAATATA others(40): Show AAAATATATAAATATATATAAATATATAAATTAAATATAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	301	0.0033	47	c.-41 others(58): Show c.-4194_-4193insAAATATATAAATATATATAAATATATAAATTAAA TATAAATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4106		chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557000	A A	AAGAAAGA others(40): Show AAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	255	0.0039	47	c.140 others(66): Show c.140-19889_140-19888insCTTTCTTTCTTTTCTTTCTTTCCTTC TTTCTTTCTTTCTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557000	A A	AAGAAAGA others(40): Show AAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00733.hp2 others(17): Show HG00323.hp1 HG00558.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01192.hp1 HG01978.hp2 HG02040.hp1 HG02109.hp1 HG02109.hp2 HG02647.hp1 HG02717.hp1 NA18612.hp1 NA18959.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA19005.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0003t0005 a0001c0003t0012	a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0084 others(17): Show a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0084 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0002g0033 a0001c0001t0002g0071 a0001c0001t0002g0085 a0001c0001t0003g0135 a0001c0001t0003g0335 a0001c0001t0009g0141 a0001c0001t0010g0242 a0001c0002t0001g0083 a0001c0002t0001g0089 a0001c0003t0005g0068 a0001c0003t0005g0069 a0001c0003t0005g0070 a0001c0003t0012g0006	20	274	0.0730	47	c.140 others(66): Show c.140-19889_140-19888insCTTTCTTTCTTTTCTTTCTTTCTTTC CTTCTTTCTTTCTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557004	A A	AAGAAAGA others(40): Show AAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0297 a0001c0002t0001g0297	1	325	0.0031	47	c.140 others(66): Show c.140-19893_140-19892insCTTTCTTTCTTTTCTTTCTTTCTTTC CTTCTTTCTTTCTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50282648	A A	AAGGGCAC others(40): Show AAGGGCACTGAGGAGGCAGCTGGGTGTGGGGAGCAGAGGGGGGCGGGC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01106.hp1 HG01261.hp1 others(35): Show HG00673.hp1 HG01106.hp1 HG01261.hp1 HG01361.hp1 HG01515.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02647.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03130.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG03704.hp2 HG06807.hp1 NA18906.hp2 NA18950.hp1 NA18952.hp1 NA18970.hp2 NA18971.hp1 NA18990.hp2 NA19007.hp2 NA19043.hp2 NA19081.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0007 a0012 a0013 a0014 a0017	a0001c0006 a0001c0050 a0002c0007 others(13): Show a0001c0006 a0001c0050 a0002c0007 a0002c0017 a0002c0065 a0004c0008 a0005c0067 a0005c0068 a0007c0029 a0007c0066 a0007c0076 a0012c0024 a0012c0062 a0013c0030 a0014c0027 a0017c0055	a0001c0006t0001 a0001c0050t0001 a0002c0007t0001 others(14): Show a0001c0006t0001 a0001c0050t0001 a0002c0007t0001 a0002c0017t0004 a0002c0065t0001 a0004c0008t0001 a0004c0008t0005 a0005c0067t0001 a0005c0068t0005 a0007c0029t0001 a0007c0066t0001 a0007c0076t0001 a0012c0024t0001 a0012c0062t0001 a0013c0030t0001 a0014c0027t0001 a0017c0055t0001	a0001c0006t0001g0138 a0001c0006t0001g0148 a0001c0006t0001g0149 others(32): Show a0001c0006t0001g0138 a0001c0006t0001g0148 a0001c0006t0001g0149 a0001c0006t0001g0159 a0001c0006t0001g0190 a0001c0050t0001g0060 a0002c0007t0001g0001 a0002c0007t0001g0012 a0002c0007t0001g0122 a0002c0007t0001g0131 a0002c0007t0001g0251 a0002c0007t0001g0252 a0002c0017t0004g0124 a0002c0017t0004g0125 a0002c0017t0004g0127 a0002c0017t0004g0128 a0002c0065t0001g0289 a0004c0008t0001g0249 a0004c0008t0001g0250 a0004c0008t0001g0253 a0004c0008t0001g0254 a0004c0008t0005g0008 a0005c0067t0001g0045 a0005c0068t0005g0257 a0007c0029t0001g0085 a0007c0029t0001g0089 a0007c0066t0001g0061 a0007c0076t0001g0258 a0012c0024t0001g0002 a0012c0062t0001g0084 a0013c0030t0001g0087 a0013c0030t0001g0220 a0014c0027t0001g0011 a0014c0027t0001g0014 a0017c0055t0001g0217	38	300	0.1267	47	c.298 others(62): Show c.2987+62_2987+63insGCCCGCCCCCCTCTGCTCCCCACACCCAGC TGCCTCCTCAGTGCCCT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	18/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(40): Show GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0001 a0003c0022t0001	a0003c0022t0001g0294 a0003c0022t0001g0294	1	102	0.0098	47	c.-29 others(56): Show c.-295_-294insTTCCCCCTCCCCCCTCTTCCCCCTCCCCTCCCCCTC CCCTCCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(40): Show GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0170 a0001c0003t0001g0170	1	102	0.0098	47	c.-29 others(56): Show c.-295_-294insTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCTCC CCCTCCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(40): Show GGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0017 a0017	a0017c0055 a0017c0055	a0017c0055t0001 a0017c0055t0001	a0017c0055t0001g0217 a0017c0055t0001g0217	1	102	0.0098	47	c.-29 others(56): Show c.-295_-294insTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCTCC CCTCCCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGGAGGGG others(40): Show GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0205 a0001c0003t0001g0205	1	102	0.0098	47	c.-29 others(56): Show c.-295_-294insTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307781	A A	AGGGGAGG others(40): Show AGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 NA19081.hp2 HG04115.hp1 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0145 a0001c0003t0001g0242 a0001c0003t0001g0145 a0001c0003t0001g0242	2	262	0.0076	47	c.-30 others(56): Show c.-303_-302insCTCCCCCTCTTCCCCCTCCCCCTCTTCCCCCTCCCC TCCCCCTCCCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		136		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(40): Show GGGTGGGGGGGTGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00673.hp1 others(12): Show HG00544.hp2 HG00558.hp1 HG00673.hp1 HG01258.hp2 HG01517.hp2 HG02040.hp1 HG02129.hp1 HG02886.hp2 HG04184.hp1 NA18944.hp1 NA18991.hp1 NA18995.hp2 NA19074.hp1 NA19081.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0005g0074	15	214	0.0701	47	c.-45 others(58): Show c.-4531_-4530insGCCTCCCCCACCCCCCCACCGCCCCCCCACCCCC CCACCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594338	T T	TGGGGGGG others(40): Show TGGGGGGGTGGGGGGGGGGGCGGTGGGGGGGGGTGGGGGAGGCGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	243	0.0041	47	c.-45 others(58): Show c.-4534_-4533insCCACCGCCTCCCCCACCCCCCCCCACCGCCCCCC CCCCCACCCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4499		chr22	TogoVar
PNMA5_chrX_152983824_152999116	152998641	T T	TTATATAA others(40): Show TTATATAAATAATATATATTATATAATATATATTATTTATATAACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02630.hp1 others(5): Show HG01891.hp2 HG02280.hp1 HG02630.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0004g0010 a0001c0001t0005g0012 a0001c0001t0001g0006 a0001c0001t0004g0010 a0001c0001t0005g0012	8	272	0.0294	47	c.-49 others(58): Show c.-4939_-4938insTATGTTATATAAATAATATATATTATATAATATA TATTATTTATATA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4526		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137551734	A A	AGCCCCGC others(40): Show AGCCCCGCCCCGCCCCGCGAGCCCCGCACCGCCGACCCCGCACCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0023 a0023	a0023c0028 a0023c0028	a0023c0028t0001 a0023c0028t0001	a0023c0028t0001g0172 a0023c0028t0001g0172	1	99	0.0101	47	c.-15 others(58): Show c.-1538_-1537insCGGCGGTGCGGGGTCGGCGGTGCGGGGCTCGCGG GGCGGGGCGGGGC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1333		chr9	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 NA19240.hp2 HG02723.hp2 NA19240.hp2	a0008 a0008	a0008c0014 a0008c0039 a0008c0014 a0008c0039	a0008c0014t0003 a0008c0039t0004 a0008c0014t0003 a0008c0039t0004	a0008c0014t0003g0039 a0008c0039t0004g0042 a0008c0014t0003g0039 a0008c0039t0004g0042	2	384	0.0052	47	c.-21 others(58): Show c.-2120_-2119insAAAAAAAAATATATATATATATATATATATATAT ATATATATATATA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	72	0.0139	47	c.438 others(62): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLK_chr5_75506891_75614991	75612350	T T	TCCGCCCC others(40): Show TCCGCCCCCGCCCTCCGCCCCCCGCCCCCCGCCCCCGCCCTCCGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG02622.hp2 others(2): Show HG01884.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0104 a0001c0001t0005 a0001c0001t0104	a0001c0001t0005g0200 a0001c0001t0005g0208 a0001c0001t0005g0209 others(2): Show a0001c0001t0005g0200 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0104g0207	5	339	0.0147	47	c.14 others(60): Show c.14332_*14333insCCGCCCCCGCCCTCCGCCCCCCGCCCCCCGCC CCCGCCCTCCGCCCC	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding		2360		chr5	TogoVar
POLR1B_chr2_112537465_112584818	112540873	C C	CAAAACTC others(40): Show CAAAACTCTTAGTAGAAAATATAGGTGAAAATCCCCATGATTGAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	382	0.0026	47	c.-16 others(58): Show c.-1622_-1621insAAAACTCTTAGTAGAAAATATAGGTGAAAATCCC CATGATTGAAAAA	POLR1B	ENSG00000125630.16	transcript	ENST00000263331.10	protein_coding		1591		chr2	TogoVar
POLR3E_chr16_22292409_22340096	22295420	T T	TGGGGGGG others(40): Show TGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	356	0.0028	47	c.-21 others(58): Show c.-2156_-2155insGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGG	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding		1988		chr16	TogoVar
POR_chr7_75910155_75991855	75923082	T T	TCGCCTAA others(40): Show TCGCCTAAAGAAAATTTTTAGTGCTGTCTTTGTAAAAGTCACCCCCCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03540.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0024 a0001c0004 a0001c0024	a0001c0004t0001 a0001c0024t0001 a0001c0004t0001 a0001c0024t0001	a0001c0004t0001g0270 a0001c0024t0001g0234 a0001c0004t0001g0270 a0001c0024t0001g0234	2	276	0.0072	47	c.-14 others(64): Show c.-14+7903_-14+7904insCGCCTAAAGAAAATTTTTAGTGCTGTCT TTGTAAAAGTCACCCCCCA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15			chr7	TogoVar
POR_chr7_75910155_75991855	75970938	T T	TTTTTATT others(40): Show TTTTTATTTTATTTTATTTTATTTTATTTTAAATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03471.hp2 HG03041.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0077 a0001c0005t0001g0150 a0001c0003t0001g0077 a0001c0005t0001g0150	2	43	0.0465	47	c.180 others(64): Show c.180-1445_180-1444insAATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
POR_chr7_75910155_75991855	75988764	A A	AAGGCCGG others(40): Show AAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0269 a0007c0015t0001g0269	1	268	0.0037	47	c.22 others(58): Show c.2283_*2284insAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGT GGGGGGGTGGAGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1910		chr7	TogoVar
POR_chr7_75910155_75991855	75988765	A A	AGGCCGGG others(40): Show AGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02129.hp1 NA18747.hp2 others(1): Show HG00609.hp1 HG02129.hp1 NA18747.hp2 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0123 a0002c0001t0002g0191 a0002c0001t0002g0192 others(1): Show a0002c0001t0002g0123 a0002c0001t0002g0191 a0002c0001t0002g0192 a0002c0001t0002g0193	4	221	0.0181	47	c.22 others(58): Show c.2284_*2285insGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTG GGGGGGTGGAGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1911		chr7	TogoVar
POR_chr7_75910155_75991855	75988765	A A	AGGCGGGG others(40): Show AGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02886.hp1 HG03098.hp1 others(2): Show HG01243.hp2 HG02886.hp1 HG03098.hp1 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0001 a0001c0005t0001 a0001c0006t0001	a0001c0005t0001g0069 a0001c0005t0001g0070 a0001c0005t0001g0072 others(2): Show a0001c0005t0001g0069 a0001c0005t0001g0070 a0001c0005t0001g0072 a0001c0006t0001g0236 a0001c0006t0001g0237	5	222	0.0225	47	c.22 others(58): Show c.2284_*2285insGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGTG GGTGTGTGGAGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1911		chr7	TogoVar
POR_chr7_75910155_75991855	75989077	T T	TGGAGGGG others(40): Show TGGAGGGGGTGGAGGTTGAGGGGGGGGAGGGGTGGAGGTTGAGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	211	0.0047	47	c.25 others(58): Show c.2596_*2597insGGAGGGGGTGGAGGTTGAGGGGGGGGAGGGGTGG AGGTTGAGGGGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2223		chr7	TogoVar
POR_chr7_75910155_75991855	75989094	A A	AGGGGGGG others(40): Show AGGGGGGGGAGGGGTGGAGGTTGAGGGGGGGGAGGGGTGGAGGTTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	259	0.0039	47	c.26 others(58): Show c.2613_*2614insGGGGGGGGAGGGGTGGAGGTTGAGGGGGGGGAGG GGTGGAGGTTGAG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2240		chr7	TogoVar
PPARA_chr22_46145526_46248755	46205554	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0187 a0001c0001t0019g0188 a0001c0001t0019g0187 a0001c0001t0019g0188	2	83	0.0241	47	c.208 others(64): Show c.208+6964_208+6965insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPEF2_chr4_75854867_75907452	75877006	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	11	0.0909	47	c.934 others(62): Show c.934-334_934-333insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPEF2_chr4_75854867_75907452	75877039	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	263	0.0038	47	c.934 others(62): Show c.934-367_934-366insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPHLN1_chr12_42321167_42447181	42360110	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	129	0.0078	47	c.299 others(64): Show c.299+4901_299+4902insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPIAL4H_chr1_146339006_146349765	146345087	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	414	0.0024	47	c.-37 others(56): Show c.-373_-372insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAA	PPIAL4H	ENSG00000270339.4	transcript	ENST00000584068.4	protein_coding		323		chr1	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAGAGAGA others(40): Show GAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG00735.hp2 HG00741.hp2	a0001 a0024 a0001 a0024	a0001c0031 a0024c0068 a0001c0031 a0024c0068	a0001c0031t0001 a0024c0068t0001 a0001c0031t0001 a0024c0068t0001	a0001c0031t0001g0169 a0024c0068t0001g0207 a0001c0031t0001g0169 a0024c0068t0001g0207	2	253	0.0079	47	c.63- others(62): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTCTCTCT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPL_chr16_4877507_4942148	4920371	G G	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01081.hp2 others(32): Show HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG02056.hp2 HG02132.hp2 HG02602.hp2 HG02723.hp1 HG02735.hp1 HG02922.hp2 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp2 HG03927.hp2 NA18939.hp1 NA18944.hp2 NA18951.hp1 NA18963.hp1 NA18977.hp1 NA18980.hp1 NA19009.hp1 NA19055.hp2 NA19064.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0014 a0015 a0016 a0035 a0036 a0046 a0050	a0001c0001 a0001c0031 a0001c0055 others(11): Show a0001c0001 a0001c0031 a0001c0055 a0002c0002 a0002c0007 a0003c0028 a0005c0005 a0014c0020 a0015c0014 a0016c0040 a0035c0042 a0036c0057 a0046c0047 a0050c0053	a0001c0001t0001 a0001c0031t0001 a0001c0055t0001 others(12): Show a0001c0001t0001 a0001c0031t0001 a0001c0055t0001 a0002c0002t0002 a0002c0007t0003 a0003c0028t0002 a0005c0005t0002 a0005c0005t0011 a0014c0020t0001 a0015c0014t0001 a0016c0040t0001 a0035c0042t0001 a0036c0057t0002 a0046c0047t0001 a0050c0053t0014	a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0175 others(32): Show a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0175 a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0326 a0001c0031t0001g0170 a0001c0055t0001g0117 a0002c0002t0002g0008 a0002c0002t0002g0013 a0002c0002t0002g0110 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0251 a0002c0007t0003g0318 a0003c0028t0002g0156 a0005c0005t0002g0176 a0005c0005t0011g0208 a0005c0005t0011g0211 a0014c0020t0001g0196 a0015c0014t0001g0091 a0016c0040t0001g0236 a0035c0042t0001g0210 a0036c0057t0002g0264 a0046c0047t0001g0187 a0050c0053t0014g0135	35	202	0.1733	47	c.63- others(62): Show c.63-9423_63-9422insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPP3CA_chr4_101018418_101352526	101090985	C C	CATATCTG others(40): Show CATATCTGTGTCTATATTATAATATACACACATATCTGTGTCTATATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18522.hp1 HG02886.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0031 a0001c0001t0023 a0001c0001t0031	a0001c0001t0023g0106 a0001c0001t0031g0006 a0001c0001t0023g0106 a0001c0001t0031g0006	2	190	0.0105	47	c.782 others(64): Show c.782+2790_782+2791insAATATAGACACAGATATGTGTGTATATT ATAATATAGACACAGATAT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	6/13			chr4	TogoVar
PPP4R3A_chr14_91452508_91515310	91507340	T T	TAGTATAT others(40): Show TAGTATATATACTATATAGTATATATACTATATAGTATATATACTATA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	306	0.0033	47	c.142 others(64): Show c.142+2165_142+2166insTATAGTATATATACTATATAGTATATAT ACTATATAGTATATATACT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPTC7_chr12_110528245_110588318	110564769	C C	CATATATA others(40): Show CATATATATATACATACACGTTATATATATATACACGTATATGTATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	326	0.0031	47	c.224 others(66): Show c.224-12802_224-12801insATATACATATACGTGTATATATATAT AACGTGTATGTATATATATAT	PPTC7	ENSG00000196850.6	transcript	ENST00000354300.5	protein_coding	1/5			chr12	TogoVar
PPTC7_chr12_110528245_110588318	110564772	A A	ATATATAT others(40): Show ATATATATACATACACGTTATATATATATACACGTATATGTATATGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01884.hp2 others(24): Show HG00423.hp2 HG00558.hp1 HG01884.hp2 HG02071.hp2 HG02572.hp1 HG02698.hp2 HG02886.hp1 HG02970.hp2 HG03098.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18946.hp1 NA18947.hp1 NA18959.hp1 NA18973.hp1 NA18989.hp1 NA19010.hp2 NA19030.hp2 NA19056.hp1 NA19063.hp1 NA19077.hp1 NA19081.hp1 NA19088.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0024 a0001c0001t0029	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(24): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0019g0279 a0001c0001t0024g0056 a0001c0001t0029g0319	27	294	0.0918	47	c.224 others(66): Show c.224-12851_224-12805dupCACATATACATATACGTGTATATATA TATAACGTGTATGTATATATA	PPTC7	ENSG00000196850.6	transcript	ENST00000354300.5	protein_coding	1/5			chr12	TogoVar
PRAME_chr22_22542701_22564265	22559817	G G	GCTGATAA others(40): Show GCTGATAAAACCGTTGTTTCACCTTTGAAACAGAGACTCAGCCTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	398	0.0025	47	c.-96 others(56): Show c.-961_-960insGGGGAGGCTGAGTCTCTGTTTCAAAGGTGAAACAAC GGTTTTATCAG	PRAME	ENSG00000185686.18	transcript	ENST00000405655.8	protein_coding		553		chr22	TogoVar

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