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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0338 a0002c0002t0003g0338	1	366	0.0027	31	c.125 others(48): Show c.125+2929_125+2930insAAAAAAAAATATATATATATATATATAT ATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P3H3_chr12_6823407_6844847	6825960	A A	AGGGACGG others(24): Show AGGGACGGCTCTTGGGGGAGTGCAGGCAATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	452	0.0022	31	c.-24 others(42): Show c.-2481_-2480insGGGACGGCTCTTGGGGGAGTGCAGGCAATTG	P3H3	ENSG00000110811.20	transcript	ENST00000290510.10	protein_coding		2446		chr12	TogoVar
P3H4_chr17_41796953_41816949	41798566	G G	GAAAACAA others(24): Show GAAAACAAATAAAACTTATAACAAAAAAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	404	0.0025	31	c.43 others(42): Show c.4390_*4391insTTGTTTTTTTGTTATAAGTTTTATTTGTTTT	P3H4	ENSG00000141696.13	transcript	ENST00000393928.6	protein_coding		3386		chr17	TogoVar
PABPN1L_chr16_88858333_88871660	88864547	C C	CGTCACGG others(24): Show CGTCACGGCCAGCACCCCTGCAGAGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	452	0.0022	31	c.655 others(46): Show c.655-199_655-169dupCCCCCCCCTCTGCAGGGGTGCTGGCCGTGA C	PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding	5/6			chr16	TogoVar
PACRG_chr6_162722974_163320500	162960891	A A	ACAGCACC others(24): Show ACAGCACCATCAGGAAAACATTTTCTCTTTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00741.hp1 others(42): Show HG00323.hp1 HG00323.hp2 HG00741.hp1 HG00741.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01361.hp2 HG01517.hp2 HG01943.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp2 HG02109.hp2 HG02148.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG04184.hp2 HG06807.hp1 NA18906.hp2 NA18945.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18981.hp2 NA18989.hp2 NA19012.hp1 NA19060.hp1 NA19063.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0018 a0001c0003t0003 a0001c0003t0009 a0001c0004t0011	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 others(42): Show a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0002g0003 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0129 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0102 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0082 a0001c0001t0005g0071 a0001c0001t0005g0078 a0001c0001t0005g0083 a0001c0001t0006g0009 a0001c0001t0007g0125 a0001c0001t0008g0069 a0001c0002t0018g0063 a0001c0003t0003g0065 a0001c0003t0009g0080 a0001c0004t0011g0034	45	130	0.3462	31	c.292 others(52): Show c.292-101256_292-101226dupGCACCATCAGGAAAACATTTTCTC TTTCCCA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66164596	A A	ATATATAA others(24): Show ATATATAATACATATATATATGTATTATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	322	0.0031	31	c.357 others(50): Show c.357-28865_357-28864insATATATTATATAATACATATATATAT GTATT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19012.hp1 NA18992.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0179 a0001c0001t0001g0187	2	312	0.0064	31	c.169 others(48): Show c.169-4941_169-4940insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102899886	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	312	0.0032	31	c.169 others(48): Show c.169-4969_169-4968insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19064.hp1 HG02165.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0226 a0001c0001t0001g0191 a0001c0001t0001g0226	2	350	0.0057	31	c.125 others(50): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATAATTAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18940.hp2 HG01981.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0006 a0001c0001t0008 a0001c0003t0006	a0001c0001t0008g0068 a0001c0003t0006g0067 a0001c0001t0008g0068 a0001c0003t0006g0067	2	178	0.0112	31	c.-22 others(50): Show c.-22+11538_-22+11539insTATATATATATATATATATATATATA ATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196833462	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0109 a0001c0001t0063g0109	1	178	0.0056	31	c.50 others(42): Show c.5057_*5058insTATATATATATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		816		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833468	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0146 a0003c0005t0001g0146	1	178	0.0056	31	c.50 others(42): Show c.5063_*5064insTATATATATATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		822		chr3	TogoVar
PALLD_chr4_168492052_168933441	168709613	A A	AGGGAGGG others(24): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02004.hp1 HG01952.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0110 a0001c0001t0008g0008 a0001c0001t0002g0110 a0001c0001t0008g0008	2	156	0.0128	31	c.162 others(48): Show c.1621+466_1621+467insGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21			chr4	TogoVar
PALLD_chr4_168492052_168933441	168709633	A A	AGGGAGGG others(24): Show AGGGAGGGAGGAAGGGGGAAAAGGAGTGGGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02922.hp2 NA18966.hp1 HG01099.hp2 HG02922.hp2 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0007 a0001c0002 a0002c0003 a0002c0007	a0001c0002t0010 a0002c0003t0005 a0002c0007t0004 a0001c0002t0010 a0002c0003t0005 a0002c0007t0004	a0001c0002t0010g0099 a0002c0003t0005g0133 a0002c0007t0004g0027 a0001c0002t0010g0099 a0002c0003t0005g0133 a0002c0007t0004g0027	3	156	0.0192	31	c.162 others(48): Show c.1621+486_1621+487insGGGAGGGAGGAAGGGGGAAAAGGAGTGG GGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21			chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0027	a0001c0006t0027g0174 a0001c0006t0027g0174	1	222	0.0045	31	c.583 others(46): Show c.583-962_583-961insAAAAAAAAAAAAAAAAAAATATATATATAT A	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0218 a0007c0011t0002g0218	1	222	0.0045	31	c.583 others(46): Show c.583-962_583-961insAAAAAAAAATATATATATATATATATATAT A	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18960.hp2 NA18990.hp1 HG03486.hp2 NA18960.hp2 NA18990.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0002 a0001c0001t0001 a0007c0011t0002	a0001c0001t0001g0005 a0001c0001t0001g0085 a0007c0011t0002g0172 a0001c0001t0001g0005 a0001c0001t0001g0085 a0007c0011t0002g0172	3	222	0.0135	31	c.583 others(46): Show c.583-962_583-961insAAAAAAATATATATATATATATATATATAT A	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99652740	G G	GAAAAGAA others(24): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	380	0.0026	31	c.45+ others(46): Show c.45+6381_45+6382insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA A	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALM_chr19_703935_753329	737621	G G	GCAAGGCA others(24): Show GCAAGGCACGCAGCTATCTGGAGGAAGGTGTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18959.hp1 HG00544.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0001 a0001c0002t0004 a0001c0003t0001	a0001c0002t0004g0251 a0001c0003t0001g0252 a0001c0002t0004g0251 a0001c0003t0001g0252	2	404	0.0050	31	c.502 others(48): Show c.502+1564_502+1594dupAGGAAGGTGTCCAAGGCACGCAGCTATC TGG	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM_chr19_703935_753329	741519	C C	CGGGCTGC others(24): Show CGGGCTGCAGGGGTGAGGGGAGCTGGGCTGCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0371 a0001c0002t0008g0371	1	404	0.0025	31	c.634 others(48): Show c.634+1039_634+1040insCTGCAGGGGTGAGGGGAGCTGGGCTGCA GGG	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALS1_chr14_67236435_67341061	67284429	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0277 a0001c0001t0005g0277	1	290	0.0035	31	c.367 others(48): Show c.367+4907_367+4908insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAN3_chr13_28133545_28300335	28257706	T T	TATTATAT others(24): Show TATTATATATAATTAATATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0207 a0001c0001t0007g0207	1	252	0.0040	31	c.124 others(50): Show c.1248+1180_1248+1210dupTAATATATATTATATATAAATTATAT ATAAT	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAATA others(24): Show AAAAAATATATATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	416	0.0024	31	c.635 others(46): Show c.635+144_635+145insATATATATATTATATATATATATATATTTT T	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	416	0.0024	31	c.635 others(46): Show c.635+144_635+145insATATATATATATATATATATATATATATAT T	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PAPOLG_chr2_60751268_60807086	60783500	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0282 a0001c0001t0028g0282	1	328	0.0031	31	c.116 others(48): Show c.1166+319_1166+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PAPOLG	ENSG00000115421.13	transcript	ENST00000238714.8	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(24): Show ATATATATATATATATATAGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0220 a0001c0001t0009g0220	1	372	0.0027	31	c.28- others(46): Show c.28-3087_28-3086insATATATATATATATATAGTGTGTGTGTGTG T	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG01943.hp1 others(11): Show HG00558.hp1 HG00609.hp2 HG01943.hp1 HG02040.hp2 HG02129.hp1 HG02698.hp1 HG04204.hp2 NA18939.hp2 NA18954.hp2 NA18956.hp2 NA18969.hp1 NA18977.hp1 NA18993.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012	a0001c0001t0003g0024 a0001c0001t0003g0070 a0001c0001t0003g0109 others(11): Show a0001c0001t0003g0024 a0001c0001t0003g0070 a0001c0001t0003g0109 a0001c0001t0003g0147 a0001c0001t0003g0187 a0001c0001t0003g0196 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0250 a0001c0001t0008g0350 a0001c0001t0010g0010 a0001c0001t0010g0026 a0001c0001t0012g0180 a0001c0001t0012g0249	14	372	0.0376	31	c.381 others(44): Show c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69383273	G G	GCGTGCTC others(24): Show GCGTGCTCATGGTGGAGGGTGAGCGGGCCCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(239): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0003t0003 a0001c0003t0020 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0023 a0002c0002t0024	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(239): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0094 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0144 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0158 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0197 a0001c0001t0004g0218 a0001c0001t0004g0231 a0001c0001t0004g0269 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0189 a0001c0001t0005g0226 a0001c0001t0006g0229 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0008g0092 a0001c0001t0008g0095 a0001c0001t0012g0156 a0001c0001t0013g0113 a0001c0001t0014g0006 a0001c0001t0015g0225 a0001c0001t0016g0109 a0001c0001t0017g0053 a0001c0001t0018g0214 a0001c0001t0021g0246 a0001c0001t0022g0049 a0001c0003t0003g0248 a0001c0003t0020g0132 a0001c0004t0001g0029 a0001c0004t0001g0254 a0002c0002t0001g0032 a0002c0002t0001g0044 a0002c0002t0001g0127 a0002c0002t0001g0143 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0180 a0002c0002t0001g0205 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0234 a0002c0002t0002g0004 a0002c0002t0002g0076 a0002c0002t0002g0085 a0002c0002t0002g0097 a0002c0002t0002g0112 a0002c0002t0002g0136 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0155 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0176 a0002c0002t0002g0191 a0002c0002t0002g0194 a0002c0002t0002g0198 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0247 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0266 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0188 a0002c0002t0007g0169 a0002c0002t0007g0200 a0002c0002t0007g0204 a0002c0002t0009g0050 a0002c0002t0009g0227 a0002c0002t0023g0138 a0002c0002t0024g0167	242	284	0.8521	31	c.180 others(48): Show c.180-1350_180-1320dupCGGGCCCTCCGTGCTCATGGTGGAGGGT GAG	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69383296	C C	CGGGCCCT others(24): Show CGGGCCCTCCGTGCTCATGGTGGAGGGTGAGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	284	0.0035	31	c.180 others(48): Show c.180-1351_180-1350insTGGGCCCTCCGTGCTCATGGTGGAGGGT GAG	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69383763	G G	GTTCATCG others(24): Show GTTCATCGTGGAGGGTGAGCGGGCCCTCTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp2 NA19010.hp1 others(2): Show HG00408.hp1 HG02015.hp2 NA19010.hp1 NA19012.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0140 a0001c0001t0004g0137 a0001c0001t0004g0160 others(2): Show a0001c0001t0001g0140 a0001c0001t0004g0137 a0001c0001t0004g0160 a0001c0001t0004g0197 a0001c0001t0004g0231	5	284	0.0176	31	c.180 others(46): Show c.180-914_180-913insTTCATCGTGGAGGGTGAGCGGGCCCTCTGT A	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8			chr15	TogoVar
PAQR5_chr15_69293912_69412780	69384383	T T	TCCTCCGT others(24): Show TCCTCCGTGTTCATGGTGGAGGGTGAGCGGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp1 HG02886.hp2 others(3): Show HG02451.hp2 HG02809.hp1 HG02886.hp2 NA19003.hp1 NA19010.hp2 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0023	a0002c0002t0001g0127 a0002c0002t0002g0147 a0002c0002t0002g0148 others(3): Show a0002c0002t0001g0127 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0009g0050 a0002c0002t0009g0227 a0002c0002t0023g0138	6	284	0.0211	31	c.180 others(46): Show c.180-236_180-206dupCGGGCCCTCCGTGTTCATGGTGGAGGGTGA G	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69384410	C C	CGGGCCCT others(24): Show CGGGCCCTCCGTGTTCATGGTGGAGGGTGAGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp1 HG06807.hp2 others(1): Show HG02630.hp2 HG03130.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0006 a0001c0001t0018	a0001c0001t0006g0229 a0001c0001t0006g0244 a0001c0001t0006g0245 others(1): Show a0001c0001t0006g0229 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0018g0214	4	284	0.0141	31	c.180 others(46): Show c.180-237_180-236insTGGGCCCTCCGTGTTCATGGTGGAGGGTGA G	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69384441	C C	CGGGCCCT others(24): Show CGGGCCCTCCGTGTTCATGGTGGAGGGTGAGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp1 others(56): Show HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp2 HG02738.hp2 HG02818.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18949.hp2 NA18959.hp2 NA18961.hp1 NA18964.hp2 NA18982.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18999.hp1 NA19005.hp1 NA19043.hp2 NA19063.hp2 NA19068.hp1 NA19074.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0024	a0001c0001t0002g0144 a0001c0001t0002g0175 a0001c0001t0002g0177 others(56): Show a0001c0001t0002g0144 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0233 a0001c0001t0002g0236 a0002c0002t0001g0032 a0002c0002t0001g0044 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0180 a0002c0002t0001g0205 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0234 a0002c0002t0002g0004 a0002c0002t0002g0076 a0002c0002t0002g0085 a0002c0002t0002g0097 a0002c0002t0002g0112 a0002c0002t0002g0136 a0002c0002t0002g0146 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0155 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0176 a0002c0002t0002g0191 a0002c0002t0002g0194 a0002c0002t0002g0198 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0247 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0266 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0188 a0002c0002t0007g0169 a0002c0002t0007g0200 a0002c0002t0007g0204 a0002c0002t0024g0167	59	284	0.2078	31	c.180 others(46): Show c.180-156_180-126dupGGTGGAGGGTGAGTGGGCCCTCCGTGTTCA T	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69384507	C C	CCCTCCGT others(24): Show CCCTCCGTGTTCATGGTGGAAGGTGAGCGGGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	284	0.0035	31	c.180 others(46): Show c.180-151_180-150insAGGTGAGCGGGTCCTCCGTGTTCATGGTGG A	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR9_chr3_142949585_142968674	142967469	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0000 a0002c0003t0009g0000	1	446	0.0022	31	c.-41 others(42): Show c.-4134_-4133insATATATTTTTTTTTTTTTTTTTTTTTTTTTT	PAQR9	ENSG00000188582.10	transcript	ENST00000340634.6	protein_coding		3796		chr3	TogoVar
PAQR9_chr3_142949585_142968674	142967469	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0000 a0002c0003t0009g0000	1	446	0.0022	31	c.-41 others(42): Show c.-4134_-4133insATATATATATATTTTTTTTTTTTTTTTTTTT	PAQR9	ENSG00000188582.10	transcript	ENST00000340634.6	protein_coding		3796		chr3	TogoVar
PARD3B_chr2_204540475_205625162	204648652	A A	AATATATT others(24): Show AATATATTTATAATATATATCATATAAATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02723.hp1 others(3): Show HG01109.hp1 HG02257.hp1 HG02723.hp1 HG03041.hp2 HG03486.hp1 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0008 a0002c0001 others(2): Show a0001c0004 a0001c0008 a0002c0001 a0002c0003 a0003c0009	a0001c0004t0014 a0001c0004t0021 a0001c0008t0001 others(3): Show a0001c0004t0014 a0001c0004t0021 a0001c0008t0001 a0002c0001t0001 a0002c0003t0001 a0003c0009t0002	a0001c0004t0014g0016 a0001c0004t0021g0051 a0001c0008t0001g0054 others(3): Show a0001c0004t0014g0016 a0001c0004t0021g0051 a0001c0008t0001g0054 a0002c0001t0001g0053 a0002c0003t0001g0031 a0003c0009t0002g0034	6	54	0.1111	31	c.121 others(50): Show c.121-37483_121-37453dupTATATCATATAAATAATATATATTTA TAATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204648884	T T	TATATCAT others(24): Show TATATCATATAAATAATATATATTTATAATAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0010 a0003c0005t0001g0010	1	54	0.0185	31	c.121 others(50): Show c.121-37267_121-37266insGATATCATATAAATAATATATATTTA TAATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204648946	G G	GATATCAT others(24): Show GATATCATATAAATAATATATATTTATAATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0017 a0002c0001t0004g0017	1	54	0.0185	31	c.121 others(50): Show c.121-37205_121-37204insTATATCATATAAATAATATATATTTA TAATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204648977	G G	GATATCAT others(24): Show GATATCATATAAATAATATATATTTATAATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0034 a0003c0009t0002g0034	1	54	0.0185	31	c.121 others(50): Show c.121-37174_121-37173insTATATCATATAAATAATATATATTTA TAATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204649008	G G	GATATCAT others(24): Show GATATCATATAAATAATATATATTTATAATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02145.hp2 HG02886.hp2 others(6): Show HG00609.hp1 HG02145.hp2 HG02886.hp2 HG02976.hp1 HG03130.hp1 HG03453.hp1 HG03471.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0004 a0001c0006 others(3): Show a0001c0002 a0001c0004 a0001c0006 a0001c0021 a0002c0001 a0004c0020	a0001c0002t0001 a0001c0004t0002 a0001c0006t0007 others(4): Show a0001c0002t0001 a0001c0004t0002 a0001c0006t0007 a0001c0021t0001 a0002c0001t0002 a0002c0001t0010 a0004c0020t0020	a0001c0002t0001g0008 a0001c0004t0002g0035 a0001c0006t0007g0013 others(6): Show a0001c0002t0001g0008 a0001c0004t0002g0035 a0001c0006t0007g0013 a0001c0006t0007g0018 a0001c0021t0001g0012 a0002c0001t0002g0019 a0002c0001t0002g0033 a0002c0001t0010g0050 a0004c0020t0020g0032	9	54	0.1667	31	c.121 others(50): Show c.121-37120_121-37090dupTTTATAATATATATCATATAAATAAT ATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204883455	A A	ATATATAA others(24): Show ATATATAAAATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02257.hp2 HG02723.hp2	a0002 a0009 a0002 a0009	a0002c0015 a0009c0025 a0002c0015 a0009c0025	a0002c0015t0006 a0009c0025t0022 a0002c0015t0006 a0009c0025t0022	a0002c0015t0006g0024 a0009c0025t0022g0009 a0002c0015t0006g0024 a0009c0025t0022g0009	2	54	0.0370	31	c.223 others(50): Show c.223-81696_223-81695insATATAAAATATATATATATATATATT TTTTT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205036367	A A	AAAAATAT others(24): Show AAAAATATATGTATATAGTGGGCTATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03471.hp2 HG01109.hp1 HG03471.hp2	a0003 a0012 a0003 a0012	a0003c0009 a0012c0023 a0003c0009 a0012c0023	a0003c0009t0002 a0012c0023t0001 a0003c0009t0002 a0012c0023t0001	a0003c0009t0002g0034 a0012c0023t0001g0052 a0003c0009t0002g0034 a0012c0023t0001g0052	2	54	0.0370	31	c.395 others(50): Show c.395-11211_395-11210insATATATGTATATAGTGGGCTATATAT ATAAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205054436	A A	ATATATAT others(24): Show ATATATATATATATATATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	54	0.0185	31	c.504 others(48): Show c.504+6747_504+6748insATATATATATATATATATTTATATATAT ATT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(24): Show CATATATAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	382	0.0026	31	c.295 others(48): Show c.295+7161_295+7162insATATATATATATATATATATATATTATA TAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195570	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0330 a0001c0002t0001g0330	1	382	0.0026	31	c.295 others(48): Show c.295+7139_295+7140insTATATATATATATATATATATATATATA TAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02165.hp2 NA19090.hp2 HG02132.hp1 HG02165.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0073 a0001c0001t0005g0012 a0001c0001t0006g0156 a0001c0001t0001g0073 a0001c0001t0005g0012 a0001c0001t0006g0156	3	169	0.0178	31	c.148 others(52): Show c.1481-18609_1481-18608insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	366	0.0027	31	c.-33 others(42): Show c.-3319_-3318insAAAAAAAAAATATATATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0329 a0001c0001t0003g0329	1	366	0.0027	31	c.-33 others(42): Show c.-3319_-3318insAAAAAAAATATATATATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP15_chr3_122572650_122644047	122601036	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG02258.hp2 HG02630.hp2	a0002 a0003 a0002 a0003	a0002c0014 a0003c0003 a0002c0014 a0003c0003	a0002c0014t0014 a0003c0003t0001 a0002c0014t0014 a0003c0003t0001	a0002c0014t0014g0190 a0003c0003t0001g0200 a0002c0014t0014g0190 a0003c0003t0001g0200	2	356	0.0056	31	c.187 others(48): Show c.187-4877_187-4876insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 5228 hits)