Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PHF2_chr9_93571584_93684587	93587521	A A	AGTCCCAG others(40): Show AGTCCCAGATGGTGGATGGAGGAGCCCCGGGTGAGGGATGATGGAGGC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03927.hp1 HG01993.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0225 a0002c0002t0001g0226 a0001c0001t0002g0225 a0002c0002t0001g0226	2	350	0.0057	47	c.98+ others(64): Show c.98+10659_98+10660insGGTGGATGGAGGAGCCCCGGGTGAGGGA TGATGGAGGCGTCCCAGAT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHKA1_chrX_72573814_72719306	72681897	G G	GGGGGGTC others(40): Show GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	237	0.0042	47	c.537 others(64): Show c.537+2600_537+2601insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(40): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0210 a0001c0005t0001g0210	1	286	0.0035	47	c.-15 others(64): Show c.-15+6462_-15+6463insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PHRF1_chr11_571470_617222	589968	A A	AATGTCTG others(40): Show AATGTCTGCAAACGGGCATGGAGCGTGCAGGGTTCAGCCTGAGAGGGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0009 a0016c0020t0009	a0016c0020t0009g0249 a0016c0020t0009g0249	1	279	0.0036	47	c.421 others(64): Show c.421-1416_421-1415insATGTCTGCAAACGGGCATGGAGCGTGCA GGGTTCAGCCTGAGAGGGT	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	4/17			chr11	TogoVar
PHTF2_chr7_77793773_77962225	77938557	C C	CGTCTCTA others(40): Show CGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGAAACCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	314	0.0032	47	c.136 others(64): Show c.1365+743_1365+789dupATTAGCCAGGCGTGGTGAAACCCTGTCT CTACTAAAAATACAAAAAA	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PIAS4_chr19_4002736_4044386	4012007	T T	TGTGGGGT others(40): Show TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02280.hp2 others(18): Show HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 others(2): Show a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 a0001c0004t0011 a0001c0004t0012	a0001c0004t0003g0005 a0001c0004t0003g0246 a0001c0004t0003g0250 others(15): Show a0001c0004t0003g0005 a0001c0004t0003g0246 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0003g0252 a0001c0004t0003g0253 a0001c0004t0003g0254 a0001c0004t0003g0255 a0001c0004t0003g0256 a0001c0004t0003g0257 a0001c0004t0003g0258 a0001c0004t0003g0259 a0001c0004t0003g0301 a0001c0004t0004g0248 a0001c0004t0004g0249 a0001c0004t0008g0300 a0001c0004t0011g0004 a0001c0004t0012g0004	21	334	0.0629	47	c.28- others(60): Show c.28-913_28-912insGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PID1_chr2_229018973_229276287	229184803	G G	GTATATAT others(40): Show GTATATATATCCCGTATATATATATATCCCGTATATATATATCCCGTA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02965.hp2 HG03579.hp1 others(1): Show HG01192.hp1 HG02965.hp2 HG03579.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0002g0100 a0001c0001t0002g0174 others(1): Show a0001c0001t0001g0010 a0001c0001t0002g0100 a0001c0001t0002g0174 a0001c0001t0002g0184	4	256	0.0156	47	c.31- others(64): Show c.31-28840_31-28839insTACGGGATATATATATACGGGATATATA TATATACGGGATATATATA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(40): Show CATATATATATATAATGTGTGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA20805.hp1 HG03017.hp2 NA20805.hp1	a0001 a0012 a0001 a0012	a0001c0088 a0012c0079 a0001c0088 a0012c0079	a0001c0088t0001 a0012c0079t0002 a0001c0088t0001 a0012c0079t0002	a0001c0088t0001g0130 a0012c0079t0002g0122 a0001c0088t0001g0130 a0012c0079t0002g0122	2	158	0.0127	47	c.330 others(66): Show c.330-15073_330-15072insATATATATATATATATATATATATAT ACACACATTATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGU_chr20_34555542_34682092	34623256	A A	AACAAGTG others(40): Show AACAAGTGAGACTGCCCAGGAGGAGGAGGAGATCCTGGGGGCAGGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19240.hp1 HG02615.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0282 a0001c0001t0001g0262 a0001c0001t0001g0282	2	320	0.0063	47	c.530 others(64): Show c.530-7164_530-7118dupGGCCCTGCCCCCAGGATCTCCTCCTCCT CCTGGGCAGTCTCACTTGT	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(40): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	384	0.0026	47	c.18 others(56): Show c.185_*186insATATATATATATATATATATATATATATATATATAT ATTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIWIL2_chr8_22270316_22362568	22290974	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	296	0.0034	47	c.118 others(64): Show c.1181+629_1181+630insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTT	PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKD1_chr16_2083708_2140898	2104211	A A	AAGGGGGA others(40): Show AAGGGGGATAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0017 a0005c0032t0017	a0005c0032t0017g0085 a0005c0032t0017g0085	1	216	0.0046	47	c.816 others(64): Show c.8161+286_8161+287insCATCCCCCTTCCCCTCCCTTATCCCCCT TCCCCTCCCTTATCCCCCT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314991	G G	GGAAGGGA others(40): Show GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	306	0.0033	47	c.349 others(66): Show c.349+14219_349+14220insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1L1_chr8_109357461_109542207	109380202	A A	ATCTCAGC others(40): Show ATCTCAGCTGGCTACCTCTAACACTCTTGTATTAAATCTTAGTAGAGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0051 a0051	a0051c0060 a0051c0060	a0051c0060t0005 a0051c0060t0005	a0051c0060t0005g0035 a0051c0060t0005g0035	1	282	0.0036	47	c.164 others(64): Show c.164-1152_164-1106dupTCTAACACTCTTGTATTAAATCTTAGTA GAGCTCTCAGCTGGCTACC	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	2/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
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	a0001c0001t0001g0077 a0001c0001t0001g0077	1	216	0.0046	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 a0010 others(3): Show a0001 a0002 a0010 a0015 a0016 a0019	a0001c0002 a0001c0003 a0001c0010 others(6): Show a0001c0002 a0001c0003 a0001c0010 a0001c0016 a0002c0013 a0010c0033 a0015c0032 a0016c0020 a0019c0017	a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 others(6): Show a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 a0001c0016t0001 a0002c0013t0001 a0010c0033t0001 a0015c0032t0001 a0016c0020t0001 a0019c0017t0001	a0001c0002t0001g0100 a0001c0002t0001g0106 a0001c0002t0001g0125 others(43): Show a0001c0002t0001g0100 a0001c0002t0001g0106 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0099 a0001c0003t0001g0108 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0122 a0001c0003t0001g0149 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0169 a0001c0010t0001g0023 a0001c0016t0001g0208 a0001c0016t0001g0214 a0002c0013t0001g0110 a0002c0013t0001g0111 a0002c0013t0001g0179 a0010c0033t0001g0124 a0015c0032t0001g0157 a0016c0020t0001g0020 a0019c0017t0001g0109	46	216	0.2130	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 a0016 a0001 a0002 a0016	a0001c0002 a0001c0003 a0001c0010 others(4): Show a0001c0002 a0001c0003 a0001c0010 a0001c0016 a0001c0036 a0002c0013 a0016c0020	a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 a0001c0010t0003 a0001c0016t0001 a0001c0036t0001 a0002c0013t0001 a0016c0020t0001	a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 others(37): Show a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0112 a0001c0002t0001g0120 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0003t0001g0122 a0001c0003t0001g0150 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0160 a0001c0003t0001g0162 a0001c0010t0001g0023 a0001c0010t0003g0017 a0001c0010t0003g0018 a0001c0016t0001g0208 a0001c0016t0001g0214 a0001c0036t0001g0168 a0002c0013t0001g0110 a0002c0013t0001g0111 a0002c0013t0001g0179 a0016c0020t0001g0020	40	216	0.1852	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	352	0.0028	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	316	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	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0021 a0003c0012t0021	a0003c0012t0021g0315 a0003c0012t0021g0315	1	384	0.0026	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	a0001c0002t0001g0128 a0001c0002t0001g0128	1	384	0.0026	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	a0005 a0008 a0018 others(9): Show a0005 a0008 a0018 a0020 a0023 a0027 a0028 a0030 a0058 a0082 a0115 a0119	a0005c0007 a0005c0025 a0008c0127 others(13): Show a0005c0007 a0005c0025 a0008c0127 a0008c0131 a0018c0022 a0020c0023 a0020c0129 a0023c0041 a0023c0142 a0027c0044 a0028c0042 a0030c0128 a0058c0125 a0082c0133 a0115c0159 a0119c0157	a0005c0007t0003 a0005c0007t0004 a0005c0025t0004 others(15): Show a0005c0007t0003 a0005c0007t0004 a0005c0025t0004 a0008c0127t0004 a0008c0131t0004 a0018c0022t0003 a0018c0022t0004 a0020c0023t0004 a0020c0129t0004 a0023c0041t0001 a0023c0142t0001 a0027c0044t0003 a0028c0042t0004 a0030c0128t0004 a0058c0125t0004 a0082c0133t0003 a0115c0159t0003 a0119c0157t0004	a0005c0007t0003g0014 a0005c0007t0003g0197 a0005c0007t0004g0132 others(17): Show a0005c0007t0003g0014 a0005c0007t0003g0197 a0005c0007t0004g0132 a0005c0025t0004g0034 a0008c0127t0004g0153 a0008c0131t0004g0257 a0018c0022t0003g0234 a0018c0022t0003g0235 a0018c0022t0004g0297 a0020c0023t0004g0253 a0020c0129t0004g0256 a0023c0041t0001g0028 a0023c0142t0001g0108 a0027c0044t0003g0047 a0028c0042t0004g0265 a0030c0128t0004g0156 a0058c0125t0004g0300 a0082c0133t0003g0260 a0115c0159t0003g0278 a0119c0157t0004g0277	25	412	0.0607	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	a0077 a0077	a0077c0126 a0077c0126	a0077c0126t0003 a0077c0126t0003	a0077c0126t0003g0151 a0077c0126t0003g0151	1	412	0.0024	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	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0004 a0020c0023t0004	a0020c0023t0004g0254 a0020c0023t0004g0254	1	412	0.0024	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	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0004 a0005c0025t0004	a0005c0025t0004g0152 a0005c0025t0004g0152	1	412	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	384	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	384	0.0026	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	336	0.0030	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 a0001c0001t0002g0035 a0001c0001t0002g0071 a0001c0001t0002g0085 a0001c0001t0003g0135 a0001c0001t0003g0335 a0001c0001t0009g0141 a0001c0001t0010g0242 a0001c0002t0001g0083 a0001c0002t0001g0089 a0001c0003t0005g0068 a0001c0003t0005g0069 a0001c0003t0005g0070 a0001c0003t0012g0006	20	336	0.0595	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	336	0.0030	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 a0011 a0013 a0014 a0024	a0001c0006 a0001c0050 a0002c0007 others(13): Show a0001c0006 a0001c0050 a0002c0007 a0002c0017 a0002c0065 a0004c0008 a0005c0067 a0005c0068 a0007c0029 a0007c0066 a0007c0076 a0011c0024 a0011c0062 a0013c0030 a0014c0027 a0024c0055	a0001c0006t0001 a0001c0050t0001 a0002c0007t0001 others(14): Show a0001c0006t0001 a0001c0050t0001 a0002c0007t0001 a0002c0017t0004 a0002c0065t0001 a0004c0008t0001 a0004c0008t0005 a0005c0067t0001 a0005c0068t0005 a0007c0029t0001 a0007c0066t0001 a0007c0076t0001 a0011c0024t0001 a0011c0062t0001 a0013c0030t0001 a0014c0027t0001 a0024c0055t0001	a0001c0006t0001g0137 a0001c0006t0001g0148 a0001c0006t0001g0149 others(32): Show a0001c0006t0001g0137 a0001c0006t0001g0148 a0001c0006t0001g0149 a0001c0006t0001g0159 a0001c0006t0001g0189 a0001c0050t0001g0060 a0002c0007t0001g0001 a0002c0007t0001g0013 a0002c0007t0001g0122 a0002c0007t0001g0130 a0002c0007t0001g0251 a0002c0007t0001g0252 a0002c0017t0004g0124 a0002c0017t0004g0125 a0002c0017t0004g0126 a0002c0017t0004g0127 a0002c0065t0001g0289 a0004c0008t0001g0249 a0004c0008t0001g0250 a0004c0008t0001g0253 a0004c0008t0001g0254 a0004c0008t0005g0008 a0005c0067t0001g0045 a0005c0068t0005g0257 a0007c0029t0001g0084 a0007c0029t0001g0088 a0007c0066t0001g0061 a0007c0076t0001g0258 a0011c0024t0001g0002 a0011c0062t0001g0083 a0013c0030t0001g0085 a0013c0030t0001g0219 a0014c0027t0001g0012 a0014c0027t0001g0015 a0024c0055t0001g0216	38	302	0.1258	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	302	0.0033	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	a0001c0003t0001g0169 a0001c0003t0001g0169	1	302	0.0033	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	a0024 a0024	a0024c0055 a0024c0055	a0024c0055t0001 a0024c0055t0001	a0024c0055t0001g0216 a0024c0055t0001g0216	1	302	0.0033	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	a0001c0003t0001g0204 a0001c0003t0001g0204	1	302	0.0033	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	302	0.0066	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	330	0.0455	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	330	0.0030	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	286	0.0280	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	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0172 a0017c0029t0001g0172	1	188	0.0053	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	a0009 a0028 a0009 a0028	a0009c0014 a0028c0039 a0009c0014 a0028c0039	a0009c0014t0003 a0028c0039t0004 a0009c0014t0003 a0028c0039t0004	a0009c0014t0003g0037 a0028c0039t0004g0040 a0009c0014t0003g0037 a0028c0039t0004g0040	2	440	0.0046	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	a0001c0001t0002g0176 a0001c0001t0002g0176	1	340	0.0029	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	a0001c0001t0005g0199 a0001c0001t0005g0207 a0001c0001t0005g0208 others(2): Show a0001c0001t0005g0199 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0104g0206	5	356	0.0140	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	384	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	358	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	278	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	a0001c0003t0001g0035 a0001c0005t0001g0132 a0001c0003t0001g0035 a0001c0005t0001g0132	2	278	0.0072	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	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0269 a0008c0015t0001g0269	1	278	0.0036	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	a0002c0001t0002g0105 a0002c0001t0002g0173 a0002c0001t0002g0174 others(1): Show a0002c0001t0002g0105 a0002c0001t0002g0173 a0002c0001t0002g0174 a0002c0001t0002g0175	4	278	0.0144	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	a0001c0005t0001g0032 a0001c0005t0001g0033 a0001c0005t0001g0034 others(2): Show a0001c0005t0001g0032 a0001c0005t0001g0033 a0001c0005t0001g0034 a0001c0006t0001g0235 a0001c0006t0001g0236	5	278	0.0180	47	c.22 others(58): Show c.2284_*2285insGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGTG GGTGTGTGGAGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1911		chr7	TogoVar

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