Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

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)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
PITPNM3_chr17_6446263_6561555	6560636	C C	CTCCTCCT others(43): Show CTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCTCATTATCCTCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0067 a0002c0005t0067	a0002c0005t0067g0082 a0002c0005t0067g0082	1	218	0.0046	50	c.-42 others(61): Show c.-4231_-4230insAGGAGGATAATGAGAGGAGGAGGAAGAGGAGGAG GGGAGGAGGAGGAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4082		chr17	TogoVar
PIWIL3_chr22_24714034_24779720	24757637	C C	CACACATA others(43): Show CACACATATATAAAATATGTATATATTACACACACACACACACACACACA T	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	386	0.0026	50	c.355 others(65): Show c.355+270_355+271insATGTGTGTGTGTGTGTGTGTGTGTAATATA TACATATTTTATATATGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757637	C C	CACATATA others(43): Show CACATATATAAAATATGTATATATTACACACACACACACACACACACACA T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0024 a0024	a0024c0029 a0024c0029	a0024c0029t0001 a0024c0029t0001	a0024c0029t0001g0362 a0024c0029t0001g0362	1	386	0.0026	50	c.355 others(65): Show c.355+270_355+271insATGTGTGTGTGTGTGTGTGTGTGTGTAATA TATACATATTTTATATATGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757659	T T	TACACACA others(43): Show TACACACACACACACACACACACATATATATAAAATATGTATATATTACA C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01081.hp1 others(15): Show HG00735.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG02015.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG03669.hp1 NA18747.hp2 NA18939.hp2 NA18961.hp1 NA18966.hp2 NA18971.hp1 NA18980.hp2 NA18995.hp1 NA19002.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0016 a0003c0005 a0001c0001 a0002c0016 a0003c0005	a0001c0001t0001 a0002c0016t0001 a0003c0005t0001 a0001c0001t0001 a0002c0016t0001 a0003c0005t0001	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(15): Show a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0218 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0309 a0002c0016t0001g0237 a0003c0005t0001g0288	18	386	0.0466	50	c.355 others(65): Show c.355+248_355+249insGTGTAATATATACATATTTTATATATATGT GTGTGTGTGTGTGTGTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PKD1L1_chr7_47769614_47953466	47865568	A A	ATTATTTT others(43): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0232 a0016c0022t0001g0232	1	306	0.0033	50	c.409 others(67): Show c.4093-297_4093-296insAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAA	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	25/56			chr7	TogoVar
PKDCC_chr2_42043021_42063517	42044174	G G	GGAAGGAA others(43): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAGAAAGAAAGAAAGAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0014	1	432	0.0023	50	c.-40 others(61): Show c.-4026_-4025insGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAA GAAAGAAAGAAAGAAA	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		3846		chr2	TogoVar
PKIA_chr8_78511340_78610267	78524204	A A	ATATATAA others(43): Show ATATATAAATATATGTATAAACATTTATATTTATATATAAACATTTATAT T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01255.hp1 others(2): Show HG00140.hp1 HG01106.hp2 HG01255.hp1 HG04199.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0023	a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0009g0018 others(2): Show a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0009g0018 a0001c0001t0017g0019 a0001c0001t0023g0022	5	186	0.0269	50	c.-15 others(69): Show c.-157+7742_-157+7743insAATATATGTATAAACATTTATATTTA TATATAAACATTTATATTTATATA	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PLA1A_chr3_119592885_119634811	119608202	A A	AAAAGAAA others(43): Show AAAAGAAAGAAAGAAAGAAAGAGAGAGAAAGAAAGAGAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0325 a0001c0001t0003g0325	1	420	0.0024	50	c.276 others(65): Show c.276-547_276-546insGAGAGAAAGAAAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	PLA1A	ENSG00000144837.9	transcript	ENST00000273371.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLAAT3_chr11_63569462_63619433	63615018	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATGTATATATGTATATATATGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01069.hp1 others(24): Show HG00408.hp1 HG00639.hp2 HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02080.hp1 HG02145.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02809.hp1 HG02965.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG04228.hp1 NA18971.hp1 NA18972.hp1 NA19063.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 a0001c0001t0001 a0001c0001t0007 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0193 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0193 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0304 a0001c0001t0001g0316 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0007g0205 a0001c0001t0007g0279 a0001c0004t0001g0195	27	352	0.0767	50	c.-68 others(59): Show c.-689_-688insCACATATATATACATATATACATATATATATATATA TATATATATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		586		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615018	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATGTCTATATGTATATATATGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01891.hp1 HG02257.hp2 HG00735.hp1 HG01891.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197	3	352	0.0085	50	c.-68 others(59): Show c.-689_-688insCACATATATATACATATAGACATATATATATATATA TATATATATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		586		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615022	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATGTATGTATATAT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01081.hp2 HG01361.hp1 others(13): Show HG00408.hp2 HG01081.hp2 HG01361.hp1 HG01952.hp1 HG02004.hp2 HG02083.hp1 HG03041.hp2 HG03942.hp1 HG03942.hp2 NA18943.hp1 NA18952.hp2 NA18989.hp2 NA19005.hp1 NA19068.hp2 NA19080.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0026 others(13): Show a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0026 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0112 a0001c0001t0002g0131	16	352	0.0455	50	c.-69 others(59): Show c.-693_-692insCATATATACATACATATATATATATATATATATATA TATATATATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		590		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615058	A A	ATGTATAT others(43): Show ATGTATATATATGTGTATATATATGTGTGTGTATATGTGTATATATATGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(23): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00621.hp2 HG02071.hp2 HG02129.hp2 HG02258.hp1 HG02280.hp1 HG03225.hp1 HG04184.hp1 NA18747.hp1 NA18940.hp2 NA18950.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18993.hp2 NA19030.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19080.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0001g0187 a0001c0001t0001g0189 others(22): Show a0001c0001t0001g0011 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0003g0300	26	352	0.0739	50	c.-72 others(59): Show c.-729_-728insCACATATATATACACATATACACACACATATATATA CACATATATATACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		626		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615058	A A	ATGTATAT others(43): Show ATGTATATATATGTGTATATATATGTGTGTGTATGTGTGTATATATATGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02896.hp1 HG06807.hp2 HG02647.hp2 HG02896.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0199 a0001c0001t0003g0209 a0001c0001t0003g0210	3	352	0.0085	50	c.-72 others(59): Show c.-729_-728insCACATATATATACACACATACACACACATATATATA CACATATATATACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		626		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615064	G G	GTATGTAT others(43): Show GTATGTATATATGTATATATGTGTATATATATGTGTGTATATGTGTATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	352	0.0028	50	c.-73 others(59): Show c.-735_-734insTATATACACATATACACACATATATATACACATATA TACATATATACATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		632		chr11	TogoVar
PLCZ1_chr12_18678180_18743012	18698048	T T	TCCTGTCC others(43): Show TCCTGTCCTCATGAACAACATGAGGACCTGTCCTCATGAACAACATGAGG A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	326	0.0031	50	c.117 others(69): Show c.1174+1745_1174+1746insTCCTCATGTTGTTCATGAGGACAGGT CCTCATGTTGTTCATGAGGACAGG	PLCZ1	ENSG00000139151.16	transcript	ENST00000266505.12	protein_coding	10/14			chr12	TogoVar
PLD5_chr1_242077986_242529697	242393478	G G	GTATATAT others(43): Show GTATATATATGAGTATATATATGTGTATATATATGAGTATATATATGTGT A	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19002.hp2 NA18989.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0080 a0001c0001t0004g0093 a0001c0001t0001g0080 a0001c0001t0004g0093	2	188	0.0106	50	c.190 others(69): Show c.190-45237_190-45236insTACACATATATATACTCATATATATA CACATATATATACTCATATATATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394174	G G	GTATATAT others(43): Show GTATATATATGTGTATATATATGAGTATATATATGAGTATATATATGTGT A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp1 HG02145.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0011 a0001c0001t0001g0037	2	188	0.0106	50	c.190 others(69): Show c.190-45933_190-45932insTACACATATATATACTCATATATATA CTCATATATATACACATATATATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEC_chr8_143910153_143978529	143945022	C C	CGGGCTCA others(43): Show CGGGCTCACGTCCCTGCAGGAGGCGGGGGCTCACGTCCCTGCAGGAGGCG G	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp2 HG02976.hp2 NA18522.hp2	a0010 a0071 a0010 a0071	a0010c0169 a0071c0168 a0010c0169 a0071c0168	a0010c0169t0001 a0071c0168t0001 a0010c0169t0001 a0071c0168t0001	a0010c0169t0001g0009 a0071c0168t0001g0011 a0010c0169t0001g0009 a0071c0168t0001g0011	2	302	0.0066	50	c.71- others(65): Show c.71-6331_71-6330insCCGCCTCCTGCAGGGACGTGAGCCCCCGCC TCCTGCAGGGACGTGAGCCC	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	1/31			chr8	TogoVar
PLEKHA5_chr12_19124733_19381400	19308897	G G	GCGCGTGC others(43): Show GCGCGTGCGCGCGCGCGCACACACACACACACACACACACACACACACAC A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01243.hp2 HG03195.hp2 others(4): Show HG00621.hp1 HG01243.hp2 HG03195.hp2 NA18966.hp1 NA18979.hp2 NA18999.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0058 a0001c0001t0003g0038 a0001c0001t0003g0042 others(4): Show a0001c0001t0001g0058 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0001t0003g0195 a0001c0001t0005g0104 a0001c0001t0005g0145	7	316	0.0222	50	c.203 others(69): Show c.2038-5916_2038-5915insGCGTGCGCGCGCGCGCACACACACAC ACACACACACACACACACACACAC	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	15/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19308897	G G	GCGCGTGC others(43): Show GCGCGTGCGCGCGCGCGCGCGCACACACACACACACACACACACACACAC A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0215 a0001c0010t0001g0215	1	316	0.0032	50	c.203 others(69): Show c.2038-5916_2038-5915insGCGTGCGCGCGCGCGCGCGCACACAC ACACACACACACACACACACACAC	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	15/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG4B_chr5_87168_194966	92389	C C	CGGGTGGG others(43): Show CGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGT G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0210 a0002c0003t0011g0210	1	210	0.0048	50	c.45+ others(63): Show c.45+151_45+152insGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4_chr16_67274532_67294480	67275352	T T	TTTGAGAT others(43): Show TTTGAGATATAAGTCACATACCATAAAAATTCACCCATTTTAAGTGTACA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0014 a0002c0008t0001g0014	1	322	0.0031	50	c.-44 others(61): Show c.-4444_-4443insTTGAGATATAAGTCACATACCATAAAAATTCACC CATTTTAAGTGTACAG	PLEKHG4	ENSG00000196155.13	transcript	ENST00000379344.8	protein_coding		4179		chr16	TogoVar
PLGRKT_chr9_5352971_5442925	5423869	A A	ATATATAT others(43): Show ATATATATGTATAATATATATTATATATGTAATATAGTCTATAATATATA T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG02895.hp1 others(3): Show HG01891.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG03098.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 others(3): Show a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349	6	414	0.0145	50	c.81+ others(65): Show c.81+8027_81+8028insATATATATTATAGACTATATTACATATATA ATATATATTATACATATATA	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(43): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAAAGA A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	384	0.0026	50	c.212 others(69): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLK3_chr1_44795377_44810990	44795612	A A	AAATATAT others(43): Show AAATATATATAAATATAAATAAATAATATATAAATAATATAAAATATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	384	0.0026	50	c.-48 others(61): Show c.-4852_-4851insAATATATATAAATATAAATAAATAATATATAAAT AATATAAAATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4764		chr1	TogoVar
PLK3_chr1_44795377_44810990	44796270	A A	AAAATATA others(43): Show AAAATATATAAATATATATAAATATATAAATATAAATATATAAATATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00609.hp2 others(32): Show HG00408.hp1 HG00423.hp1 HG00609.hp2 HG01071.hp1 HG01361.hp1 HG02004.hp1 HG02015.hp2 HG02129.hp2 HG02165.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02922.hp2 HG03239.hp1 HG04204.hp1 NA18747.hp2 NA18942.hp1 NA18948.hp1 NA18949.hp1 NA18956.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18975.hp1 NA18977.hp2 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19054.hp2 NA19074.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0001 a0001c0012t0001 a0001c0002t0001 a0001c0012t0001	a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0012t0001g0002 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0012t0001g0002	35	384	0.0912	50	c.-41 others(61): Show c.-4194_-4193insAAATATATAAATATATATAAATATATAAATATAA ATATATAAATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4106		chr1	TogoVar
PLPP3_chr1_56489761_56584563	56551311	G G	GTTTGCTT others(43): Show GTTTGCTTTGGTTTGCTTTGGTTTGCTTTGGTTTGGTTTGCTTTGGTTTG C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp2 HG00738.hp1 others(22): Show HG00323.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG02004.hp2 HG02040.hp2 HG02273.hp2 HG03654.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18967.hp2 NA18994.hp1 NA19004.hp2 NA19058.hp1 NA19062.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0003t0004 others(2): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0012	a0001c0001t0002g0182 a0001c0003t0001g0285 a0001c0003t0004g0011 others(22): Show a0001c0001t0002g0182 a0001c0003t0001g0285 a0001c0003t0004g0011 a0001c0003t0004g0024 a0001c0003t0004g0030 a0001c0003t0004g0056 a0001c0003t0004g0092 a0001c0003t0004g0094 a0001c0003t0004g0170 a0001c0003t0004g0173 a0001c0003t0004g0190 a0001c0003t0004g0191 a0001c0003t0004g0207 a0001c0003t0004g0212 a0001c0003t0004g0217 a0001c0003t0004g0222 a0001c0003t0004g0235 a0001c0003t0004g0261 a0001c0003t0004g0328 a0001c0003t0005g0061 a0001c0003t0005g0068 a0001c0003t0005g0069 a0001c0003t0005g0070 a0001c0003t0005g0213 a0001c0003t0012g0006	25	336	0.0744	50	c.140 others(69): Show c.140-14200_140-14199insGCAAACCAAAGCAAACCAAACCAAAG CAAACCAAAGCAAACCAAAGCAAA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56551311	G G	GTTTGCTT others(43): Show GTTTGCTTTGGTTTGCTTTGGTTTGGTTTGCTTTGGTTTGCTTTGGTTTG C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01255.hp2 HG01358.hp1 others(7): Show HG00280.hp2 HG01255.hp2 HG01358.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02074.hp1 HG02738.hp2 HG04184.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0003 a0001c0001t0003 a0002c0004t0003	a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 others(7): Show a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0082 a0001c0001t0003g0087 a0001c0001t0003g0155 a0001c0001t0003g0218 a0001c0001t0003g0289 a0001c0001t0003g0326 a0002c0004t0003g0013	10	336	0.0298	50	c.140 others(69): Show c.140-14200_140-14199insGCAAACCAAAGCAAACCAAAGCAAAC CAAACCAAAGCAAACCAAAGCAAA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56551311	G G	GTTTGCTT others(43): Show GTTTGCTTTGGTTTGCTTTGGTTTGGTTTGGTTTGGTTTGCTTTGGTTTG C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01255.hp1 others(6): Show HG00639.hp2 HG01167.hp2 HG01255.hp1 HG02559.hp1 HG02647.hp1 HG02970.hp2 HG03098.hp1 HG03579.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017	a0001c0001t0002g0228 a0001c0001t0003g0022 a0001c0001t0003g0054 others(6): Show a0001c0001t0002g0228 a0001c0001t0003g0022 a0001c0001t0003g0054 a0001c0001t0003g0135 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0274 a0001c0001t0004g0270 a0001c0001t0017g0267	9	336	0.0268	50	c.140 others(69): Show c.140-14200_140-14199insGCAAACCAAAGCAAACCAAACCAAAC CAAACCAAAGCAAACCAAAGCAAA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557052	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	336	0.0030	50	c.140 others(69): Show c.140-19941_140-19940insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557056	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03540.hp1 HG06807.hp2 others(2): Show HG01891.hp2 HG03540.hp1 HG06807.hp2 NA18950.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0007	a0001c0001t0002g0018 a0001c0001t0002g0168 a0001c0001t0007g0138 others(2): Show a0001c0001t0002g0018 a0001c0001t0002g0168 a0001c0001t0007g0138 a0001c0002t0001g0243 a0001c0002t0007g0136	5	336	0.0149	50	c.140 others(69): Show c.140-19945_140-19944insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLVAP_chr19_17346455_17382342	17349162	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCCT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 NA18945.hp1 NA18973.hp1 others(1): Show HG02015.hp1 NA18945.hp1 NA18973.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0308 others(1): Show a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0308 a0001c0001t0001g0309	4	436	0.0092	50	c.31 others(61): Show c.3199_*3200insAAGGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2292		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39128087	C C	CTATGTAT others(43): Show CTATGTATATATATATATATATACATATATATATGTGTATATATATGTAT A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00741.hp2 others(6): Show HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01243.hp1 HG02293.hp1 HG02615.hp2 HG03195.hp1 HG04184.hp2 NA18906.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0004c0014 others(1): Show a0001c0001 a0001c0002 a0004c0014 a0006c0009	a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0032 a0001c0002t0037 a0004c0014t0027 a0006c0009t0002	a0001c0001t0003g0129 a0001c0001t0004g0181 a0001c0001t0004g0240 others(6): Show a0001c0001t0003g0129 a0001c0001t0004g0181 a0001c0001t0004g0240 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0032g0005 a0001c0002t0037g0006 a0004c0014t0027g0159 a0006c0009t0002g0184	9	320	0.0281	50	c.255 others(69): Show c.255+11566_255+11567insTATACATATATATACACATATATATA TGTATATATATATATATATACATA	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39128087	C C	CTATGTAT others(43): Show CTATGTATATATATATATATATACATATATATGTGTGTATATATATGTAT A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02735.hp1 NA20805.hp1 HG00642.hp2 HG02735.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0001t0001 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0160 a0001c0001t0006g0161 a0001c0002t0002g0099 a0001c0001t0001g0160 a0001c0001t0006g0161 a0001c0002t0002g0099	3	320	0.0094	50	c.255 others(69): Show c.255+11566_255+11567insTATACATATATATACACACATATATA TGTATATATATATATATATACATA	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	20126543	C C	CGTTATAT others(43): Show CGTTATATACGTATATAGAACACACGTTATATACGTATATAGAACACACA T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0039 a0004c0004t0039	a0004c0004t0039g0134 a0004c0004t0039g0134	1	180	0.0056	50	c.542 others(69): Show c.542-16744_542-16743insCGTATATAGAACACACGTTATATACG TATATAGAACACACATGTTATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126712	T T	TAACACAC others(43): Show TAACACACGTTATATATGTATATAGAACACACACGTTATATATGTATATA G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0104 a0001c0001t0097g0104	1	180	0.0056	50	c.542 others(69): Show c.542-16576_542-16575insGTTATATATGTATATAGAACACACAC GTTATATATGTATATAGAACACAC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126767	C C	CACACACG others(43): Show CACACACGTTATATATGTATATAGAACACACACGTTATATATGTATATAG A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0024 a0001c0001t0055g0024	1	180	0.0056	50	c.542 others(69): Show c.542-16523_542-16522insCGTTATATATGTATATAGAACACACA CGTTATATATGTATATAGAACACA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20238687	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATACACACATATATGT G	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18965.hp1 NA18982.hp2 HG03669.hp1 NA18965.hp1 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0035 a0002c0002t0093 a0002c0002t0007 a0002c0002t0035 a0002c0002t0093	a0002c0002t0007g0038 a0002c0002t0035g0116 a0002c0002t0093g0119 a0002c0002t0007g0038 a0002c0002t0035g0116 a0002c0002t0093g0119	3	180	0.0167	50	c.131 others(69): Show c.1313-6652_1313-6651insTATATATATATATATATATATATATA TATACACACATATATGTGTATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNB2_chr22_50269979_50312646	50302272	T T	TCAGGGCT others(43): Show TCAGGGCTTTGGGAGGCCAGAGGGACAGGGATTTCCCAGTGAGGAAATGC C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0220 a0001c0002t0002g0220	1	302	0.0033	50	c.-74 others(67): Show c.-74+5231_-74+5280dupGGCATTTCCTCACTGGGAAATCCCTGTC CCTCTGGCCTCCCAAAGCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	1/36			chr22	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(43): Show GGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGAGG C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	330	0.0030	50	c.-45 others(61): Show c.-4531_-4530insGCCTCCCCCACCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PNLDC1_chr6_159795276_159825704	159823254	T T	TGTATTTG others(43): Show TGTATTTGGGGCCCTGCTGTGTCTCTGGTCCCCCACGGGTGTCTGTCCTT G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	400	0.0025	50	c.27 others(61): Show c.2737_*2738insGTATTTGGGGCCCTGCTGTGTCTCTGGTCCCCCA CGGGTGTCTGTCCTTG	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding		2551		chr6	TogoVar
PNLIPRP1_chr10_116585959_116614175	116599256	G G	GAAAATAA others(43): Show GAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0140 a0001c0011t0001g0140	1	420	0.0024	50	c.815 others(65): Show c.815-747_815-746insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAA	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNLIPRP1_chr10_116585959_116614175	116605868	T T	TGAATAGC others(43): Show TGAATAGCTATACTTGAAAGAGGAGAAGACCAATTACATTTCAGGATAAT A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	420	0.0024	50	c.134 others(67): Show c.1340+316_1340+365dupGAATAGCTATACTTGAAAGAGGAGAAGA CCAATTACATTTCAGGATAATA	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNPLA1_chr6_36265060_36318955	36282055	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0021 a0003c0006t0021	a0003c0006t0021g0362 a0003c0006t0021g0362	1	386	0.0026	50	c.206 others(67): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(43): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19062.hp1 HG00140.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	2	340	0.0059	50	c.438 others(65): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLE_chr12_132618762_132692342	132687216	G G	GAGGGCCG others(43): Show GAGGGCCGGCCCGAGAGCCTCAGGAGGGCGCCCCTCACCTGCTGGCCTCG C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	292	0.0034	50	c.50_ others(58): Show c.50_62+37dupGCGAGGCCAGCAGGTGAGGGGCGCCCTCCTGAGGCTC TCGGGCCGGCCCT	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48			chr12	TogoVar
POLR3G_chr5_90469864_90519557	90514755	A A	AACACACA others(43): Show AACACACACACACACACACACACACACACACACACACACACACACACACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	366	0.0027	50	c.26 others(61): Show c.2616_*2617insACACACACACACACACACACACACACACACACAC ACACACACACACACAC	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding		199		chr5	TogoVar
POR_chr7_75910155_75991855	75952094	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01070.hp2 others(15): Show HG00280.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01175.hp1 HG01346.hp2 HG01361.hp1 HG01928.hp1 HG02293.hp2 HG03017.hp1 HG03486.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp1 NA19084.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0002c0001 others(2): Show a0001c0003 a0001c0004 a0002c0001 a0002c0017 a0003c0010	a0001c0003t0001 a0001c0004t0001 a0002c0001t0001 others(3): Show a0001c0003t0001 a0001c0004t0001 a0002c0001t0001 a0002c0001t0002 a0002c0017t0002 a0003c0010t0001	a0001c0003t0001g0216 a0001c0003t0001g0230 a0001c0004t0001g0210 others(15): Show a0001c0003t0001g0216 a0001c0003t0001g0230 a0001c0004t0001g0210 a0001c0004t0001g0213 a0001c0004t0001g0218 a0001c0004t0001g0220 a0001c0004t0001g0221 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0231 a0002c0001t0001g0225 a0002c0001t0002g0212 a0002c0001t0002g0215 a0002c0001t0002g0226 a0002c0001t0002g0228 a0002c0001t0002g0229 a0002c0017t0002g0232 a0003c0010t0001g0227	18	278	0.0648	50	c.-13 others(67): Show c.-13-1868_-13-1867insGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGC	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
POR_chr7_75910155_75991855	75952143	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0199	1	278	0.0036	50	c.-13 others(67): Show c.-13-1819_-13-1818insGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGC	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
POR_chr7_75910155_75991855	75952143	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG03209.hp1 others(1): Show HG02109.hp2 HG02809.hp2 HG03209.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0001 a0001c0007t0001 a0001c0007t0005 a0001c0006t0001 a0001c0007t0001 a0001c0007t0005	a0001c0006t0001g0240 a0001c0007t0001g0242 a0001c0007t0001g0244 others(1): Show a0001c0006t0001g0240 a0001c0007t0001g0242 a0001c0007t0001g0244 a0001c0007t0005g0239	4	278	0.0144	50	c.-13 others(67): Show c.-13-1825_-13-1824insTGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results