Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	268	0.0037	35	c.49- others(52): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(28): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19067.hp2 HG03927.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0131 a0001c0001t0002g0075 a0001c0001t0001g0131 a0001c0001t0002g0075	2	268	0.0075	35	c.571 others(52): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSME4_chr2_53859069_53975993	53933375	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0001 a0013c0025t0001	a0013c0025t0001g0259 a0013c0025t0001g0259	1	384	0.0026	35	c.958 others(50): Show c.958-616_958-615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	8/46			chr2	TogoVar
PSTK_chr10_122975401_122995390	122980723	C C	CGCGGGGC others(28): Show CGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02109.hp2 HG02027.hp1 HG02109.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0142 a0003c0003t0001g0143 a0002c0002t0001g0142 a0003c0003t0001g0143	2	416	0.0048	35	c.216 others(48): Show c.216+30_216+64dupCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCG GGG	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19012.hp1 NA19072.hp1 HG03239.hp1 NA19012.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0263 a0001c0002t0001g0327 a0001c0002t0005g0274 a0001c0002t0001g0263 a0001c0002t0001g0327 a0001c0002t0005g0274	3	364	0.0082	35	c.905 others(52): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112232025	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	342	0.0029	35	c.102 others(50): Show c.1020+73_1020+74insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	342	0.0029	35	c.802 others(52): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATGTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 NA19043.hp2 HG02922.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0238 a0001c0003t0003g0008 a0001c0001t0003g0238 a0001c0003t0003g0008	2	380	0.0053	35	c.-20 others(46): Show c.-2010_-2009insAAAAAAAAACATATATATATATATATATATATAT A	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(28): Show ATATATATATATATATATATATATGTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03669.hp1 HG02145.hp2 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0019 a0001c0003t0003g0220 a0001c0003t0001g0019 a0001c0003t0003g0220	2	380	0.0053	35	c.-20 others(46): Show c.-2010_-2009insAAAAAAAAAAACATATATATATATATATATATAT A	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTDSS2_chr11_445279_496399	468909	G G	GGGAGGAG others(28): Show GGGAGGAGGAGGGGAGTCTCTGGGTAATTGGAGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0307 a0004c0007t0012g0307	1	346	0.0029	35	c.285 others(52): Show c.285-4978_285-4977insAGGGGAGTCTCTGGGTAATTGGAGGGAG GAGGAGG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	328	0.0031	35	c.-38 others(54): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAAAATAT ATATATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0063 a0002c0006t0001g0063	1	328	0.0031	35	c.-38 others(54): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAATATATAT ATATATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2_chr8_140652900_141006282	140927973	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0214	1	290	0.0035	35	c.-12 others(54): Show c.-121-2225_-121-2224insATATATACATATATATATATATATAT ATATATATA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	141001250	G G	GGCGGCGG others(28): Show GGCGGCGGCGCGGGCTCGCGCCCTCGAGGCCGTGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	290	0.0035	35	c.-28 others(44): Show c.-282_-248dupAGCACGGCCTCGAGGGCGCGAGCCCGCGCCGCCGC	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/36	110514		chr8	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	272	0.0037	35	c.272 others(54): Show c.2722-1452_2722-1451insATATATATATATATATATATTTTTTT TTTTTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTP4A2_chr1_31901421_31943368	31908135	T T	TTATATAT others(28): Show TTATATATATATATATATATAATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0169 a0001c0001t0169	a0001c0001t0169g0338 a0001c0001t0169g0338	1	354	0.0028	35	c.71 others(44): Show c.716_*717insTATATATATATATATTATATATATATATATATATA	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	716		chr1	TogoVar
PTPN14_chr1_214343700_214556602	214465035	G G	GCCCCCCC others(28): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0113 a0001c0002t0113	a0001c0002t0113g0051 a0001c0002t0113g0051	1	272	0.0037	35	c.-15 others(50): Show c.-154-79_-154-78insGGGGGGGTGGGGGGGGGGGGGGGGGGGGGG GGGGG	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02027.hp2 HG00423.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0106 a0001c0002t0006 a0001c0001t0106 a0001c0002t0006	a0001c0001t0106g0107 a0001c0002t0006g0070 a0001c0001t0106g0107 a0001c0002t0006g0070	2	272	0.0074	35	c.-15 others(56): Show c.-155+31117_-155+31118insATATATATATATATATATATTTTT TTTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	272	0.0037	35	c.-15 others(56): Show c.-155+31117_-155+31118insATATATATATATATATATATATAT TTTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN1_chr20_50505383_50590241	50554380	A A	ATTCTCTC others(28): Show ATTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG03942.hp2 NA19003.hp1 HG01258.hp1 HG03942.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0303 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0001g0303 a0001c0001t0005g0033 a0001c0001t0005g0034	3	336	0.0089	35	c.64- others(50): Show c.64-6982_64-6981insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN22_chr1_113808811_113876712	113826397	G G	GGGGAAGG others(28): Show GGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	358	0.0028	35	c.225 others(54): Show c.2251-1260_2251-1226dupTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCC	PTPN22	ENSG00000134242.16	transcript	ENST00000359785.10	protein_coding	18/20			chr1	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	370	0.0027	35	c.859 others(52): Show c.859-5436_859-5435insATATATATATATATATATTTTTTTTTTT TTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	370	0.0027	35	c.859 others(52): Show c.859-5436_859-5435insATATATATATATATATATATTTTTTTTT TTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN9_chr15_75458251_75584315	75530550	A A	ATATAATA others(28): Show ATATAATATATTATATATTATTATATTATAATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01346.hp1 others(11): Show HG00140.hp2 HG00639.hp1 HG01346.hp1 HG01891.hp2 HG02004.hp2 HG02055.hp2 HG02165.hp2 HG02559.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03540.hp2 HG04115.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 others(3): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0044 a0001c0001t0045	a0001c0001t0006g0313 a0001c0001t0006g0314 a0001c0001t0006g0316 others(11): Show a0001c0001t0006g0313 a0001c0001t0006g0314 a0001c0001t0006g0316 a0001c0001t0006g0318 a0001c0001t0012g0197 a0001c0001t0012g0275 a0001c0001t0012g0276 a0001c0001t0012g0277 a0001c0001t0012g0278 a0001c0001t0020g0317 a0001c0001t0021g0312 a0001c0001t0021g0319 a0001c0001t0044g0321 a0001c0001t0045g0274	14	326	0.0429	35	c.64- others(50): Show c.64-3290_64-3289insGTATATTATAATATAATAATATATAATATA TTATA	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75530723	T T	TATAATAT others(28): Show TATAATATATATTATTATATAATATATATAATATAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	326	0.0031	35	c.64- others(50): Show c.64-3497_64-3463dupTTATATTATATATATTATATAATAATATAT ATTAT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRA_chr20_2868481_3043669	2910389	T T	TATATAAT others(28): Show TATATAATATATAAAATGTATATTATATATTATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0275 a0001c0003t0001g0275	1	356	0.0028	35	c.-12 others(56): Show c.-128-12818_-128-12817insATATAATATATAAAATGTATATTA TATATTATATA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23			chr20	TogoVar
PTPRG_chr3_61556571_62302609	61820603	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	94	0.0106	35	c.190 others(54): Show c.190+71647_190+71648insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	94	0.0106	35	c.376 others(50): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRM_chr18_7562316_8411856	8206268	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0006 a0001c0019t0001g0006	1	80	0.0125	35	c.230 others(56): Show c.2301-37786_2301-37785insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	14/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRQ_chr12_80439235_80685273	80558119	C C	CTTTCTTT others(28): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0003 a0003	a0003c0079 a0003c0079	a0003c0079t0001 a0003c0079t0001	a0003c0079t0001g0111 a0003c0079t0001g0111	1	178	0.0056	35	c.428 others(54): Show c.4285+8403_4285+8437dupTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80608544	G G	GTATAATT others(28): Show GTATAATTTATAAATTATACTTATAAATTATAAATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02698.hp2 others(11): Show HG02258.hp2 HG02559.hp2 HG02698.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18955.hp2 NA18977.hp2 NA19084.hp2	a0001 a0009 a0014 others(8): Show a0001 a0009 a0014 a0026 a0031 a0037 a0052 a0054 a0055 a0063 a0064	a0001c0001 a0009c0069 a0014c0012 others(8): Show a0001c0001 a0009c0069 a0014c0012 a0026c0081 a0031c0072 a0037c0066 a0052c0041 a0054c0046 a0055c0053 a0063c0057 a0064c0056	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0009c0069t0005 a0014c0012t0001 a0026c0081t0001 a0031c0072t0002 a0037c0066t0001 a0052c0041t0007 a0054c0046t0003 a0055c0053t0003 a0063c0057t0005 a0064c0056t0003	a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0002g0058 others(11): Show a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0002g0058 a0001c0001t0007g0068 a0009c0069t0005g0092 a0014c0012t0001g0086 a0026c0081t0001g0108 a0031c0072t0002g0132 a0037c0066t0001g0176 a0052c0041t0007g0055 a0054c0046t0003g0089 a0055c0053t0003g0155 a0063c0057t0005g0134 a0064c0056t0003g0150	14	178	0.0787	35	c.473 others(54): Show c.4732-1876_4732-1842dupCTTATAAATTATAAATTTATAATTTA TAAATTATA	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	27/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRT_chr20_42067756_43194906	42086753	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0025 a0002c0001t0002g0025	1	62	0.0161	35	c.384 others(52): Show c.3847-901_3847-900insATATATATATATATATATATATATATAT ATATATT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	122023531	A A	ATATATAA others(28): Show ATATATAATTTTATATATAATTATATATATTATATG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	312	0.0032	35	c.498 others(54): Show c.4988+4267_4988+4268insTAATTTTATATATAATTATATATATT ATATGTATA	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PUM1_chr1_30926506_31070717	30972269	A A	AAGGGGAG others(28): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01169.hp2 others(1): Show HG00738.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0062 a0001c0001t0002g0068 others(1): Show a0001c0001t0002g0038 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0202	4	334	0.0120	35	c.150 others(54): Show c.1506+2381_1506+2382insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972279	A A	AAGGGGAG others(28): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0216 a0002c0010t0003g0216	1	334	0.0030	35	c.150 others(54): Show c.1506+2371_1506+2372insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18942.hp1 NA19074.hp1 HG01243.hp1 NA18942.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0022 a0001c0001t0002 a0001c0002t0022	a0001c0001t0002g0140 a0001c0001t0002g0195 a0001c0002t0022g0205 a0001c0001t0002g0140 a0001c0001t0002g0195 a0001c0002t0022g0205	3	334	0.0090	35	c.364 others(54): Show c.364-10121_364-10120insAAAAATATATATATATATATATATAT ATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	350	0.0029	35	c.17 others(46): Show c.1713_*1714insATATATATATATATATATATATATTTTTTTTTTT T	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PVR_chr19_44638910_44671162	44645136	A A	ATATATAT others(28): Show ATATATATTATAATATATAATATGTATATTATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp2 HG01496.hp1 others(2): Show HG00741.hp1 HG01192.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0023 a0001c0001t0024	a0001c0001t0023g0115 a0001c0001t0023g0116 a0001c0001t0024g0038 others(1): Show a0001c0001t0023g0115 a0001c0001t0023g0116 a0001c0001t0024g0038 a0001c0001t0024g0114	5	412	0.0121	35	c.79+ others(48): Show c.79+971_79+972insAATATATAATATGTATATTATATATTATATAT TAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44668531	A A	AATATATG others(28): Show AATATATGTATATAATTATATAATTATATACATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA19068.hp1 NA18982.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0005 a0001c0001t0009g0005 a0001c0001t0003g0005 a0001c0001t0009g0005	2	412	0.0049	35	c.67 others(46): Show c.6720_*6721insATATATGTATATAATTATATAATTATATACATAT T	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2370		chr19	TogoVar
PVR_chr19_44638910_44671162	44668591	A A	ATATACAC others(28): Show ATATACACATATTATATATGTATATAATTATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp2 NA20300.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0046 a0003c0003t0046 a0001c0001t0046 a0003c0003t0046	a0001c0001t0046g0095 a0003c0003t0046g0097 a0001c0001t0046g0095 a0003c0003t0046g0097	2	412	0.0049	35	c.67 others(46): Show c.6780_*6781insTATACACATATTATATATGTATATAATTATATAA T	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2430		chr19	TogoVar
PWP1_chr12_107680799_107718162	107698914	G G	GTCTCTAA others(28): Show GTCTCTAACAGGGAGACAAGGTTTTCTTTATTTTAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0108 a0001c0001t0008g0108	1	342	0.0029	35	c.745 others(50): Show c.745-435_745-434insCTTTATTTTATTCTCTAACAGGGAGACAAG GTTTT	PWP1	ENSG00000136045.12	transcript	ENST00000412830.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP4_chr20_33697758_33725310	33710098	G G	GACTCCCA others(28): Show GACTCCCACCTCTATCCAGAACCACGCCCTTCCCCC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0156 a0001c0001t0022g0156	1	388	0.0026	35	c.375 others(50): Show c.375+422_375+456dupGGGGGAAGGGCGTGGTTCTGGATAGAGGTG GGAGT	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	3/3			chr20	TogoVar
PXMP4_chr20_33697758_33725310	33717639	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19043.hp1 HG02615.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0131 a0001c0001t0010g0136 a0001c0001t0007g0131 a0001c0001t0010g0136	2	388	0.0052	35	c.113 others(52): Show c.113+2455_113+2456insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	1/3			chr20	TogoVar
PXN_chr12_120205447_120270730	120207730	T T	TAAATAAT others(28): Show TAAATAATTTGCCCAAGTCTCTCAGCCAGTAAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0060	1	324	0.0031	35	c.45 others(46): Show c.4583_*4584insTCACTTACTGGCTGAGAGACTTGGGCAAATTATT T	PXN	ENSG00000089159.17	transcript	ENST00000637617.2	protein_coding		2716		chr12	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA20129.hp2 HG02970.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0117 a0001c0001t0009g0084 a0001c0001t0002g0117 a0001c0001t0009g0084	2	412	0.0049	35	c.49+ others(52): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PZP_chr12_9143840_9213395	9185790	A A	ATTTCTTT others(28): Show ATTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02074.hp2 HG02155.hp2 others(6): Show HG01074.hp1 HG02074.hp2 HG02155.hp2 HG02273.hp1 HG03654.hp1 NA18940.hp2 NA18961.hp2 NA18977.hp1 NA19030.hp1	a0004 a0006 a0007 others(2): Show a0004 a0006 a0007 a0008 a0030	a0004c0004 a0006c0007 a0007c0005 others(2): Show a0004c0004 a0006c0007 a0007c0005 a0008c0025 a0030c0044	a0004c0004t0001 a0006c0007t0001 a0007c0005t0001 others(2): Show a0004c0004t0001 a0006c0007t0001 a0007c0005t0001 a0008c0025t0001 a0030c0044t0001	a0004c0004t0001g0245 a0006c0007t0001g0036 a0006c0007t0001g0222 others(6): Show a0004c0004t0001g0245 a0006c0007t0001g0036 a0006c0007t0001g0222 a0006c0007t0001g0230 a0006c0007t0001g0241 a0006c0007t0001g0246 a0007c0005t0001g0243 a0008c0025t0001g0235 a0030c0044t0001g0255	9	334	0.0270	35	c.154 others(54): Show c.1547-3674_1547-3673insAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAA	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	13/35			chr12	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATATATA others(28): Show TATATATAACATATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02040.hp1 HG02165.hp1 others(11): Show HG00597.hp2 HG02040.hp1 HG02165.hp1 NA18612.hp1 NA18942.hp1 NA18953.hp2 NA18973.hp1 NA18979.hp2 NA18985.hp1 NA18994.hp2 NA18997.hp1 NA19006.hp1 NA19057.hp1 NA19060.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0075 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0136 a0001c0001t0001g0173 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0005c0007t0001g0008	14	442	0.0317	35	c.120 others(52): Show c.120+2326_120+2327insACATATATATATATAACATATATATAAC ATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM4_chr19_891503_918219	891578	A A	AGCCGAGG others(28): Show AGCCGAGGCGGGGCTGAGTGACAGGGAACACCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	432	0.0023	35	c.58 others(46): Show c.5824_*5858dupCACAGGTGTTCCCTGTCACTCAGCCCCGCCTCGG C	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		4924		chr19	TogoVar
R3HDM4_chr19_891503_918219	892881	A A	AGCCCCGC others(28): Show AGCCCCGCGCCCCGCGCCCCGCGCCCCGCGCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	432	0.0023	35	c.45 others(46): Show c.4521_*4555dupGCGGGGCGCGGGGCGCGGGGCGCGGGGCGCGGGG C	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		3621		chr19	TogoVar
R3HDML_chr20_44332043_44356238	44348482	C C	CTCCTTTC others(28): Show CTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	434	0.0023	35	c.630 others(52): Show c.630-2175_630-2141dupCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTC	R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar

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Search Results (Total: 4618 hits)