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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
OTOGL_chr12_80094537_80385880	80180105	ATTGCTAC others(73): Show ATTGCTACTTTCATATTCCAAGGCATAATGGCCATCTGGATATGGAGGGT CATAGGCTCTGGGCCTAGATGAATCTGCAGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02572.hp1 others(8): Show HG02145.hp2 HG02257.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03540.hp2	a0001 a0003 a0008 others(4): Show a0001 a0003 a0008 a0009 a0012 a0019 a0023	a0001c0001 a0003c0002 a0008c0007 others(4): Show a0001c0001 a0003c0002 a0008c0007 a0009c0021 a0012c0014 a0019c0027 a0023c0037	a0001c0001t0001 a0003c0002t0005 a0003c0002t0009 others(6): Show a0001c0001t0001 a0003c0002t0005 a0003c0002t0009 a0008c0007t0002 a0008c0007t0018 a0009c0021t0001 a0012c0014t0003 a0019c0027t0020 a0023c0037t0002	a0001c0001t0001g0055 a0003c0002t0005g0054 a0003c0002t0009g0006 others(8): Show a0001c0001t0001g0055 a0003c0002t0005g0054 a0003c0002t0009g0006 a0008c0007t0002g0009 a0008c0007t0002g0134 a0008c0007t0018g0150 a0009c0021t0001g0003 a0009c0021t0001g0004 a0012c0014t0003g0153 a0019c0027t0020g0008 a0023c0037t0002g0059	11	168	0.0655	-80	c.-19 others(99): Show c.-19-29180_-19-29101delGTCATAGGCTCTGGGCCTAGATGAAT CTGCAGGTTGCTACTTTCATATTCCAAGGCATAATGGCCATCTGGATATG GAGG	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOG_chr11_17542259_17651044	17639840	ATGGTGGT others(73): Show ATGGTGGTGGTGATGGTGATAATGCAATGGTGATGGTGGTGGTGATGGTG AGGATGATGGTGGTGGTGATGGTGAGGATGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0059 a0105 a0059 a0105	a0059c0157 a0105c0081 a0059c0157 a0105c0081	a0059c0157t0001 a0105c0081t0001 a0059c0157t0001 a0105c0081t0001	a0059c0157t0001g0147 a0105c0081t0001g0010 a0059c0157t0001g0147 a0105c0081t0001g0010	2	268	0.0075	-80	c.793 others(97): Show c.7935+406_7935+485delGTGATGGTGGTGGTGATGGTGAGGATGA TGGTGGTGGTGATGGTGAGGATGGTGGTGGTGGTGATGGTGATAATGCAA TG	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	49/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RY10_chrX_78940391_78968727	78965753	TCTTTCTT others(73): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TCTTTCTTTTTTCTTTCTTTTCTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	322	0.0031	-80	c.42 others(91): Show c.4214_*4293delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTCTTTCTTTTTTCTTTCTTTTCTTTCTTTTC	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding		2027		chrX	TogoVar
P2RY12_chr3_151331843_151389753	151368619	TATTTTAT others(73): Show TATTTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATGTCATTTCATTTTATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0263 a0001c0002t0002g0263	1	396	0.0025	-80	c.-18 others(101): Show c.-180+15993_-180+16072delGAAATGAAATAAAATGAAATGACA TGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAATAAAA TAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368624	TATTTTAT others(73): Show TATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT CATGTCATTTCATTTTATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	396	0.0025	-80	c.-18 others(101): Show c.-180+15988_-180+16067delGAAATGAAATGAAATAAAATGAAA TGACATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAA TAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
PAPPA_chr9_116148791_116407321	116289141	TATATATA others(73): Show TATATATATATATATATATAGCATATATATATAGCATATATGTAGCATAT ATATAGCATATATATATAGCATATATGTAGC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0185 a0001c0002t0014g0185	1	234	0.0043	-80	c.295 others(101): Show c.2954-13604_2954-13525delTATATATAGCATATATATATAGCA TATATGTAGCATATATATAGCATATATATATAGCATATATGTAGCATATA TATATA	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PARD6G_chr18_80152232_80252514	80167272	TTGCAGGA others(73): Show TTGCAGGATAACACATGGGCAGTGTTGTGTGTGGACCCGTGTGCAGGATA ACACATGGGCAGTGTTGCGTGTGGATGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01081.hp2 others(1): Show HG00140.hp1 HG00738.hp2 HG01081.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0108 a0001c0001t0002g0109 others(1): Show a0001c0001t0002g0100 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111	4	382	0.0105	-80	c.296 others(97): Show c.296-6746_296-6667delCACACATCCACACGCAACACTGCCCATG TGTTATCCTGCACACGGGTCCACACACAACACTGCCCATGTGTTATCCTG CA	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PAXBP1_chr21_32728899_32776755	32771893	AGAGAGAG others(73): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGCGAGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG02976.hp1 others(2): Show HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03654.hp2 NA19001.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0008 a0005c0007 a0001c0001 a0002c0008 a0005c0007	a0001c0001t0001 a0002c0008t0001 a0005c0007t0001 a0001c0001t0001 a0002c0008t0001 a0005c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0047 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0047 a0002c0008t0001g0039 a0005c0007t0001g0036	5	360	0.0139	-80	c.-30 others(89): Show c.-305_-226delGCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		139		chr21	TogoVar
PCCB_chr3_136245340_136335169	136299478	GTGTATGT others(73): Show GTGTATGTATGTATATGCATGTGTATGTATAGGTATGCATGTGTATGTAT GTATATGCATGTGTATAGGTATGCATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG06807.hp1 HG02055.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0138 a0001c0001t0001g0139	2	300	0.0067	-80	c.884 others(97): Show c.884+1416_885-1463delGTATATGCATGTGTATGTATAGGTATGC ATGTGTATGTATGTATATGCATGTGTATAGGTATGCATGTGTATGTATGT AT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH15_chr10_53797771_54806231	54307018	ATATATAT others(73): Show ATATATATATATGTGTGTGTGTGTATATATATATATATATATATATATAT ATATATATATATACATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03225.hp2 NA19043.hp2 HG03041.hp2 HG03225.hp2 NA19043.hp2	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0002c0002 a0021c0026 a0001c0001 a0002c0002 a0021c0026	a0001c0001t0003 a0002c0002t0023 a0021c0026t0008 a0001c0001t0003 a0002c0002t0023 a0021c0026t0008	a0001c0001t0003g0098 a0002c0002t0023g0034 a0021c0026t0008g0081 a0001c0001t0003g0098 a0002c0002t0023g0034 a0021c0026t0008g0081	3	102	0.0294	-80	c.876 others(99): Show c.876+10173_876+10252delCACACATATATATATATGTATATATA TATATATATATATATATATATATATATATATACACACACACACATATATA TATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307018	ATATATAT others(73): Show ATATATATATATGTGTGTGTGTGTATATATATATATATATATATATATAT ATATATATATATACATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp2 NA19043.hp1 HG03041.hp1 HG03225.hp2 NA19043.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0007 a0002c0002 a0017c0033 a0001c0007 a0002c0002 a0017c0033	a0001c0007t0001 a0002c0002t0009 a0017c0033t0001 a0001c0007t0001 a0002c0002t0009 a0017c0033t0001	a0001c0007t0001g0090 a0002c0002t0009g0031 a0017c0033t0001g0073 a0001c0007t0001g0090 a0002c0002t0009g0031 a0017c0033t0001g0073	3	94	0.0319	-80	c.876 others(99): Show c.876+10173_876+10252delCACACATATATATATATGTATATATA TATATATATATATATATATATATATATATATACACACACACACATATATA TATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PDGFD_chr11_103902189_104169147	104119021	TAATATAT others(73): Show TAATATATCGATATAATATATAATATATTGATATATTAATATAATATATT GGTATAATATATAATATATTGATATAATATA	T T	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	200	0.0050	-80	c.124 others(99): Show c.124+44703_124+44782delTATATTATATCAATATATTATATATT ATACCAATATATTATATTAATATATCAATATATTATATATTATATCGATA TATT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDXK_chr21_43714129_43767299	43741223	GGGGGGCT others(73): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0313 a0001c0001t0096g0313	1	358	0.0028	-80	c.143 others(95): Show c.143-438_143-359delCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31849958	ATATACAC others(73): Show ATATACACATATATATATATACATATATATATATACACATATATATATAT ACACACACACGTATATACTCATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01069.hp2 others(61): Show HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG04184.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0018 a0020 a0022 a0026 a0028 a0029 a0034 a0036	a0001c0001 a0001c0005 a0001c0007 others(25): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0001c0017 a0001c0050 a0001c0053 a0002c0002 a0002c0003 a0003c0004 a0003c0038 a0004c0006 a0004c0041 a0005c0009 a0005c0045 a0006c0016 a0007c0013 a0008c0014 a0009c0018 a0010c0039 a0018c0047 a0020c0059 a0022c0057 a0026c0052 a0028c0051 a0029c0055 a0034c0033 a0036c0060	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0034 a0001c0005t0001 a0001c0005t0048 a0001c0007t0009 a0001c0007t0047 a0001c0010t0015 a0001c0010t0043 a0001c0017t0023 a0001c0050t0036 a0001c0053t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0003t0002 a0002c0003t0011 a0003c0004t0011 a0003c0038t0001 a0004c0006t0007 a0004c0006t0010 a0004c0041t0031 a0005c0009t0009 a0005c0009t0013 a0005c0045t0038 a0006c0016t0002 a0007c0013t0001 a0007c0013t0004 a0008c0014t0001 a0008c0014t0004 a0009c0018t0006 a0010c0039t0030 a0018c0047t0001 a0020c0059t0001 a0022c0057t0001 a0026c0052t0003 a0028c0051t0008 a0029c0055t0028 a0034c0033t0007 a0036c0060t0014	a0001c0001t0001g0052 a0001c0001t0001g0083 a0001c0001t0001g0094 others(61): Show a0001c0001t0001g0052 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0140 a0001c0001t0001g0186 a0001c0001t0002g0036 a0001c0001t0002g0056 a0001c0001t0008g0161 a0001c0001t0010g0040 a0001c0001t0017g0184 a0001c0001t0017g0185 a0001c0001t0034g0139 a0001c0005t0001g0091 a0001c0005t0001g0182 a0001c0005t0048g0002 a0001c0007t0009g0058 a0001c0007t0009g0142 a0001c0007t0047g0035 a0001c0010t0015g0196 a0001c0010t0015g0199 a0001c0010t0043g0034 a0001c0017t0023g0071 a0001c0050t0036g0148 a0001c0053t0001g0215 a0002c0002t0001g0104 a0002c0002t0002g0106 a0002c0002t0002g0214 a0002c0002t0005g0004 a0002c0002t0008g0175 a0002c0003t0002g0093 a0002c0003t0002g0103 a0002c0003t0002g0192 a0002c0003t0002g0197 a0002c0003t0011g0067 a0002c0003t0011g0110 a0003c0004t0011g0051 a0003c0038t0001g0055 a0004c0006t0007g0179 a0004c0006t0007g0190 a0004c0006t0007g0202 a0004c0006t0010g0166 a0004c0006t0010g0173 a0004c0006t0010g0206 a0004c0041t0031g0114 a0005c0009t0009g0063 a0005c0009t0013g0167 a0005c0009t0013g0174 a0005c0009t0013g0203 a0005c0045t0038g0176 a0006c0016t0002g0043 a0007c0013t0001g0200 a0007c0013t0004g0198 a0008c0014t0001g0159 a0008c0014t0004g0178 a0009c0018t0006g0177 a0010c0039t0030g0216 a0018c0047t0001g0189 a0020c0059t0001g0060 a0022c0057t0001g0137 a0026c0052t0003g0003 a0028c0051t0008g0169 a0029c0055t0028g0054 a0034c0033t0007g0072 a0036c0060t0014g0204	64	216	0.2963	-80	c.476 others(99): Show c.476+50239_476+50318delCACATATATATATATACATATATATA TATACACATATATATATATACACACACACGTATATACTCATATATACACG TATA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PEX5_chr12_7184686_7216459	7196871	ATTATATA others(73): Show ATTATATATGTCACATATAATGTAATAATTATATATGTCACATATAATGT AATAATTATATGTCACATATAATGTAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	428	0.0023	-80	c.449 others(97): Show c.449-2138_449-2059delTATATATGTCACATATAATGTAATAATT ATATATGTCACATATAATGTAATAATTATATGTCACATATAATGTAATAA TT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196892	GTAATAAT others(73): Show GTAATAATTATATATGTCACATATAATGTAATAATTATATGTCACATATA ATGTAATAATTATATGTCACATATAATGTAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01496.hp1 HG01928.hp1 others(4): Show HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01952.hp1 HG02293.hp1 NA18963.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0143 others(4): Show a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0155	7	428	0.0164	-80	c.449 others(97): Show c.449-2114_449-2035delAATTATATATGTCACATATAATGTAATA ATTATATGTCACATATAATGTAATAATTATATGTCACATATAATGTAATA AT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196919	GTAATAAT others(73): Show GTAATAATTATATGTCACATATAATGTAATAATTATATGTCACATATAAT GTAATAATTATATATGTCACATATAATGTAA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	428	0.0023	-80	c.449 others(97): Show c.449-2087_449-2008delAATTATATGTCACATATAATGTAATAAT TATATGTCACATATAATGTAATAATTATATATGTCACATATAATGTAATA AT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGBD5_chr1_230309490_230431332	230315917	TGTATATG others(73): Show TGTATATGTGTACACATATATGTATGTGTATACATACATAAGTATATGTG TACACATATATGTATGTGTATACATACATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG02615.hp2 HG02818.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0114 a0001c0008t0115 a0001c0008t0114 a0001c0008t0115	a0001c0008t0114g0115 a0001c0008t0115g0016 a0001c0008t0114g0115 a0001c0008t0115g0016	2	288	0.0069	-80	c.74 others(91): Show c.7428_*7507delTTATGTATGTATACACATACATATATGTGTACAC ATATACTTATGTATGTATACACATACATATATGTGTACACATATAC	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	7/7	7428		chr1	TogoVar
PHRF1_chr11_571470_617222	609760	AGTGAGTA others(73): Show AGTGAGTAAGGCCCTGGCCCCCGCCGAGGACAGAGCCCCCCGTGAGTAAG GCCCCGGCCTCCACCGAGGACAGAGCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0003 a0009c0012t0003	a0009c0012t0003g0067 a0009c0012t0003g0067	1	279	0.0036	-80	c.426 others(96): Show c.4264+48_4264+127delAGGCCCTGGCCCCCGCCGAGGACAGAGCC CCCCGTGAGTAAGGCCCCGGCCTCCACCGAGGACAGAGCCCCCCGTGAGT A	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIEZO1_chr16_88710338_88790220	88771714	GATGCCCG others(73): Show GATGCCCGTCCACCCGCGGCCCCAGGCCCTCCTGAGACTCTATGCCCGTC CACCCGCGGCCCCAGGCCCTCCTGAGACTCT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0004 a0004	a0004c0053 a0004c0053	a0004c0053t0001 a0004c0053t0001	a0004c0053t0001g0096 a0004c0053t0001g0096	1	282	0.0036	-80	c.64+ others(97): Show c.64+13107_64+13186delAGAGTCTCAGGAGGGCCTGGGGCCGCGG GTGGACGGGCATAGAGTCTCAGGAGGGCCTGGGGCCGCGGGTGGACGGGC AT	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	1/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88772001	ATCCACCC others(73): Show ATCCACCCGCGGCCCCAGGCCCTCCTGAGACTCTATGCCCGTCCACCCGC GGCCCCAGGCCCACCTGAGACTCTATGCCTG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0015 a0015	a0015c0130 a0015c0130	a0015c0130t0001 a0015c0130t0001	a0015c0130t0001g0251 a0015c0130t0001g0251	1	282	0.0036	-80	c.64+ others(97): Show c.64+12820_64+12899delCAGGCATAGAGTCTCAGGTGGGCCTGGG GCCGCGGGTGGACGGGCATAGAGTCTCAGGAGGGCCTGGGGCCGCGGGTG GA	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	1/50			chr16	TogoVar
PIGN_chr18_62036164_62192056	62125069	AATATACA others(73): Show AATATACATGTTTGTACATACATGTATATATACACGTTTGTACATATGTG TATATAAATATACACGTTTGTACATATGTGT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0328 a0001c0001t0024g0328	1	342	0.0029	-80	c.117 others(101): Show c.1173-10510_1173-10431delACACATATGTACAAACGTGTATAT TTATATACACATATGTACAAACGTGTATATATACATGTATGTACAAACAT GTATAT	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	14/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62125089	CATGTATA others(73): Show CATGTATATATACACGTTTGTACATATGTGTATATAAATATACACGTTTG TACATATGTGTATATACATGTTTGTACATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00673.hp2 others(12): Show HG00408.hp2 HG00438.hp1 HG00673.hp2 HG01496.hp2 HG02040.hp1 HG02056.hp2 HG03831.hp2 HG06807.hp2 NA18955.hp1 NA18990.hp2 NA18999.hp2 NA19043.hp1 NA19084.hp2 NA19085.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0024 a0001c0001t0034 a0001c0001t0062 others(6): Show a0001c0001t0024 a0001c0001t0034 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0021t0063	a0001c0001t0024g0327 a0001c0001t0024g0336 a0001c0001t0024g0337 others(12): Show a0001c0001t0024g0327 a0001c0001t0024g0336 a0001c0001t0024g0337 a0001c0001t0034g0325 a0001c0001t0034g0331 a0001c0001t0034g0335 a0001c0001t0062g0334 a0001c0001t0062g0339 a0001c0001t0063g0330 a0001c0001t0064g0326 a0001c0001t0064g0329 a0001c0001t0150g0324 a0001c0001t0151g0333 a0001c0001t0152g0323 a0001c0021t0063g0332	15	342	0.0439	-80	c.117 others(101): Show c.1173-10530_1173-10451delATATGTACAAACATGTATATACAC ATATGTACAAACGTGTATATTTATATACACATATGTACAAACGTGTATAT ATACAT	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	14/30			chr18	TogoVar
PINX1_chr8_10759961_10844875	10805905	AGAGCACA others(73): Show AGAGCACAGGAAGGGGCCACACTAGTGCTGAGGGGGTGACGGAGCACAGG AAGGGGCCACACTAGTGCTGAGTGGGTGACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(90): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02273.hp1 HG02280.hp2 HG02818.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18941.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19030.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19089.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0001c0006 a0006c0011 others(2): Show a0001c0001 a0001c0006 a0006c0011 a0007c0020 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0006t0001 a0006c0011t0001 a0007c0020t0001 a0008c0013t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 others(86): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0326 a0001c0001t0002g0327 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0009g0329 a0001c0006t0001g0001 a0001c0006t0001g0086 a0006c0011t0001g0200 a0007c0020t0001g0275 a0008c0013t0001g0183	93	352	0.2642	-80	c.471 others(99): Show c.471+14208_471+14287delCGTCACCCACTCAGCACTAGTGTGGC CCCTTCCTGTGCTCCGTCACCCCCTCAGCACTAGTGTGGCCCCTTCCTGT GCTC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PJA2_chr5_109329722_109414974	109340331	TTTGAGAA others(73): Show TTTGAGAAGAACAAAGTGGCAAATAGAAATAGAGGAACAGCAAAGAAAGG AAAAGGAAAGACGGAAGGAAGGAAAGGAATG	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	346	0.0029	-80	c.200 others(99): Show c.2002-3055_2002-2976delCATTCCTTTCCTTCCTTCCGTCTTTC CTTTTCCTTTCTTTGCTGTTCCTCTATTTCTATTTGCCACTTTGTTCTTC TCAA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PLA2G5_chr1_20065194_20096911	20070848	GAGAATTC others(73): Show GAGAATTCGCCGACATCTATTTAACATCCCTTAATTGTTGAGAGCATCCA CTGTGTGCCAGACACTTCGGTACACACAGAA	G G	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18997.hp2 NA19010.hp2 others(2): Show NA18974.hp2 NA18997.hp2 NA19010.hp2 NA19062.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0024 a0001c0001t0001g0153 a0001c0001t0001g0154	5	430	0.0116	-80	c.-11 others(95): Show c.-11+388_-11+467delTTCGCCGACATCTATTTAACATCCCTTAAT TGTTGAGAGCATCCACTGTGTGCCAGACACTTCGGTACACACAGAAAGAA	PLA2G5	ENSG00000127472.11	transcript	ENST00000375108.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLAUR_chr19_43643579_43675169	43643681	TGAATAGT others(73): Show TGAATAGTGTCCTCCAAGTAAAATATATGTTGAAGTTCTAGCCCCTGGTA TCTGTACATGTGACCTTATTTGGAAATAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02083.hp1 HG02257.hp2 others(6): Show HG02040.hp1 HG02083.hp1 HG02257.hp2 HG02809.hp1 HG03139.hp2 HG03516.hp1 HG03579.hp1 NA18989.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0158 a0001c0001t0001g0252 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0158 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0309 a0001c0001t0001g0387 a0001c0001t0001g0401	9	442	0.0204	-80	c.51 others(91): Show c.5129_*5208delTTTTATTTCCAAATAAGGTCACATGTACAGATAC CAGGGGCTAGAACTTCAACATATATTTTACTTGGAGGACACTATTC	PLAUR	ENSG00000011422.12	transcript	ENST00000340093.8	protein_coding		4897		chr19	TogoVar
PLEKHG4B_chr5_87168_194966	165223	CGGGGCGG others(73): Show CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACTAATGCT CTGACGGGGCGGGGCTCACACTAACGCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0047 a0004c0006t0003g0047	1	210	0.0048	-80	c.347 others(99): Show c.3476+1676_3476+1755delGGGGCGGAGCTCACACTAATGCTCTG ACGGGGCGGGGCTCACTAATGCTCTGACGGGGCGGGGCTCACACTAACGC TCTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PLIN1_chr15_89659367_89684367	89663551	GCCAGGGC others(73): Show GCCAGGGCCACAGAGTCAGTGCCAGGGCCACAGAGTCAGTTCCAGGGCCA CAGAGTCAGTGCCAGGGCCACAGAGTCAGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02273.hp1 HG02451.hp2 others(9): Show HG02080.hp2 HG02273.hp1 HG02451.hp2 HG02818.hp1 HG03209.hp1 HG03710.hp2 NA18954.hp1 NA18969.hp1 NA18988.hp2 NA19005.hp1 NA19057.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0022	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0183 a0001c0002t0001g0289 a0001c0004t0001g0042 a0001c0022t0001g0231	12	460	0.0261	-80	c.19 others(91): Show c.1952_*2031delAACTGACTCTGTGGCCCTGGCACTGACTCTGTGG CCCTGGAACTGACTCTGTGGCCCTGGCACTGACTCTGTGGCCCTGG	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		815		chr15	TogoVar
PLIN1_chr15_89659367_89684367	89663630	TTCCAGGG others(73): Show TTCCAGGGCCACAGAGTCAGTGCCAGGGCCACAGAGTCAGTTCCAGGGCC ACAGAGTCAGTGCCAGGGCCACAGAGTCAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	460	0.0022	-80	c.18 others(91): Show c.1873_*1952delGCTGACTCTGTGGCCCTGGCACTGACTCTGTGGC CCTGGAACTGACTCTGTGGCCCTGGCACTGACTCTGTGGCCCTGGA	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		736		chr15	TogoVar
POTEM_chr14_18962434_19008752	18969277	ATATATAC others(73): Show ATATATACACATGTATATATATGTATATACGTATATATATGTATATATAT ATATATACGTATATACATATATATACATGTG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0021 a0021	a0021c0018 a0021c0018	a0021c0018t0010 a0021c0018t0010	a0021c0018t0010g0001 a0021c0018t0010g0001	1	67	0.0149	-80	c.521 others(97): Show c.521+1278_521+1357delCACATGTATATATATGTATATACGTATA TATATGTATATATATATATATACGTATATACATATATATACATGTGTATA TA	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP1R16B_chr20_38800697_38928024	38895793	CCTTCCTT others(73): Show CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTTCCCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp2 others(12): Show HG00099.hp2 HG00423.hp2 HG00558.hp2 HG03834.hp1 HG03942.hp2 NA18953.hp2 NA18969.hp1 NA18970.hp1 NA18974.hp2 NA18981.hp2 NA18995.hp1 NA19062.hp1 NA19065.hp1 NA19085.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0009 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0019	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0230 others(12): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0230 a0001c0002t0003g0018 a0001c0002t0003g0059 a0001c0002t0003g0075 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0092 a0001c0002t0003g0106 a0001c0002t0003g0111 a0001c0002t0003g0115 a0001c0002t0003g0164 a0001c0002t0009g0151 a0001c0002t0019g0203	15	244	0.0615	-80	c.467 others(94): Show c.467+85_467+164delTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCC TTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTC	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R9A_chr7_94902594_95301400	95181420	AATATAGA others(73): Show AATATAGAGAATATATATATTCCATCATATATATAGAATATATATAGAGA ATATATATATTCCATCATATATATAGAATAT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0018 a0008c0011t0001g0018	1	290	0.0035	-80	c.175 others(101): Show c.1755-16894_1755-16815delGAATATATATAGAGAATATATATA TTCCATCATATATATAGAATATATATAGAGAATATATATATTCCATCATA TATATA	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2R3B_chrX_328933_391907	351500	GCAGGCTG others(73): Show GCAGGCTGGAGTGCAGTGTGTGATCACAGCGTGATCCATTTTTATTCTAC TTGTTTTTCGAGACACGGTCTTGCTGTTGCC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	25	0.0400	-80	c.511 others(97): Show c.511-3887_511-3808delGGCAACAGCAAGACCGTGTCTCGAAAAA CAAGTAGAATAAAAATGGATCACGCTGTGATCACACACTGCACTCCAGCC TG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	2/12			chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101782502	CTCTTTCC others(73): Show CTCTTTCCTCTTTCTCTCTCCCCCTCCCCCTCCCTCTCTCCTCCCTCTCT CTTTCTCCCCTTCCCTCTCTCTCCCCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG02886.hp1 others(1): Show HG01884.hp2 HG02717.hp1 HG02886.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 a0001c0001t0002 a0001c0001t0007 a0001c0003t0002	a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0007g0126 others(1): Show a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0007g0126 a0001c0003t0002g0128	4	138	0.0290	-80	c.94- others(95): Show c.94-3512_94-3433delTTCCTCTTTCTCTCTCCCCCTCCCCCTCCC TCTCTCCTCCCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTTTCT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCA_chr17_66297613_66815743	66749004	GGGCGGGT others(73): Show GGGCGGGTATTAGGTATCTTGGCTCTGAATTGGAACCCCCTCCCTGGCCA GTCTGCATCTTCAGAGGGTGACACCAGGACA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02683.hp1 HG02698.hp2 others(2): Show HG02258.hp2 HG02683.hp1 HG02698.hp2 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0056 a0001c0001t0095 others(2): Show a0001c0001t0005 a0001c0001t0056 a0001c0001t0095 a0001c0001t0100 a0001c0003t0009	a0001c0001t0005g0161 a0001c0001t0056g0062 a0001c0001t0095g0037 others(2): Show a0001c0001t0005g0161 a0001c0001t0056g0062 a0001c0001t0095g0037 a0001c0001t0100g0147 a0001c0003t0009g0058	5	178	0.0281	-80	c.152 others(99): Show c.1524+6324_1524+6403delAGGCGGGTATTAGGTATCTTGGCTCT GAATTGGAACCCCCTCCCTGGCCAGTCTGCATCTTCAGAGGGTGACACCA GGAC	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2122401	GGTGGTGG others(73): Show GGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGC GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01975.hp2 others(6): Show HG00140.hp1 HG00738.hp1 HG01975.hp2 HG03654.hp1 NA19011.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003	a0001c0002t0001g0087 a0001c0002t0001g0197 a0001c0002t0001g0229 others(6): Show a0001c0002t0001g0087 a0001c0002t0001g0197 a0001c0002t0001g0229 a0001c0003t0001g0111 a0001c0003t0001g0259 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0003g0200	9	286	0.0315	-80	c.335 others(99): Show c.335-12835_335-12756delGGTCGTGGTGGTTAGGGTCGTGGCGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTG GTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123188	CACGGTGG others(73): Show CACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGT GGCGGTGGTTAGGTTCATGGTGGTGGTTAGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01256.hp2 HG04184.hp1 others(1): Show HG00408.hp2 HG01256.hp2 HG04184.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0217 a0001c0002t0001g0284 others(1): Show a0001c0002t0001g0206 a0001c0002t0001g0217 a0001c0002t0001g0284 a0001c0002t0001g0285	4	286	0.0140	-80	c.335 others(99): Show c.335-12073_335-11994delACGGTGGTGGTTAGGGTCACGGTGGT AGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGT TAGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123191	GGTGGTGG others(73): Show GGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGC GGTGGTTAGGTTCATGGTGGTGGTTAGGGTC	G G	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0116 a0001c0007t0001g0116	1	286	0.0035	-80	c.335 others(99): Show c.335-12045_335-11966delGGTCGTGGTGGTTAGGGTCGTGGCGG TGGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTG GTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRMT3_chr11_20382716_20514338	20415506	CAGGCAGA others(73): Show CAGGCAGACTTCCAAGGTATCTCTCTCACTTTTTCCACTAGTTATACAAG ACTTTCTTTCCTCCCCAGCTTCATACCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp2 HG01123.hp1 others(45): Show HG00544.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01255.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG02300.hp1 HG02523.hp1 HG03834.hp2 HG03942.hp2 NA18612.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp1 NA18952.hp1 NA18956.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18972.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp2 NA19086.hp1 NA19087.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0008c0010 a0001c0001 a0001c0004 a0008c0010	a0001c0001t0002 a0001c0001t0006 a0001c0004t0001 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0004t0001 a0008c0010t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 others(45): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0168 a0001c0001t0006g0019 a0001c0004t0001g0034 a0008c0010t0002g0014	48	380	0.1263	-80	c.893 others(97): Show c.893+7480_893+7559delGACTTCCAAGGTATCTCTCTCACTTTTT CCACTAGTTATACAAGACTTTCTTTCCTCCCCAGCTTCATACCTCAGAGG CA	PRMT3	ENSG00000185238.13	transcript	ENST00000331079.11	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRTN3_chr19_835999_853175	848143	CCCCACCG others(73): Show CCCCACCGTGACCTCAATAAACGTTGAAACTCCCCCTGGCTCCTGTCTGT CCTTCCCATATAGGGAGGGGAGGGGGAACTG	C C	splice_region_variant splice_region_variant	LOW	HG00099.hp2 HG01496.hp2 HG04184.hp1 others(1): Show HG00099.hp2 HG01496.hp2 HG04184.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0262 a0001c0001t0003g0290 a0001c0001t0003g0030 a0001c0001t0003g0262 a0001c0001t0003g0290	4	415	0.0096	-80	c.17 others(89): Show c.175_*254delCCCACCGTGACCTCAATAAACGTTGAAACTCCCCCT GGCTCCTGTCTGTCCTTCCCATATAGGGAGGGGAGGGGGAACTG	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	5/5			chr19	TogoVar
PSD3_chr8_18522303_19018703	18594167	CATATTAT others(73): Show CATATTATATAATATATATTATTATATACATATTATATAATATATATTAT TATATATATTATATAATATATATTATTATAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp1 HG02965.hp1 others(5): Show HG02818.hp2 HG02922.hp1 HG02965.hp1 HG03486.hp1 HG06807.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0023 a0006c0019 others(1): Show a0001c0001 a0001c0023 a0006c0019 a0009c0024	a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 others(3): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0023t0015 a0006c0019t0068 a0009c0024t0062	a0001c0001t0006g0173 a0001c0001t0012g0202 a0001c0001t0015g0169 others(5): Show a0001c0001t0006g0173 a0001c0001t0012g0202 a0001c0001t0015g0169 a0001c0001t0015g0174 a0001c0001t0015g0190 a0001c0023t0015g0189 a0006c0019t0068g0109 a0009c0024t0062g0185	8	228	0.0351	-80	c.248 others(99): Show c.2481+6117_2481+6196delATATAATAATATATATTATATAATAT ATATAATAATATATATTATATAATATGTATATAATAATATATATTATATA ATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PTDSS2_chr11_445279_496399	459314	CGGACCTG others(73): Show CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGGACCTGGG TTAGACGTGAGGACACACTCTGGTGGATGTA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	346	0.0029	-80	c.183 others(95): Show c.183-857_183-778delGTGAGGACACACTCCGGTGGATGTAGGACC TGGGTTAGACGTGAGGACACACTCTGGTGGATGTAGGACCTGGGTTAGAC	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTTG1IP_chr21_44844598_44878690	44866537	CTACTCCC others(73): Show CTACTCCCCCAATCCCGTAACACACACACAGACTGCCTACTCCCCCAATC CCATAACACACATACACACACACAGACTGCG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0196 a0001c0001t0006g0196	1	444	0.0023	-80	c.116 others(97): Show c.116-1170_116-1091delCGCAGTCTGTGTGTGTGTATGTGTGTTA TGGGATTGGGGGAGTAGGCAGTCTGTGTGTGTGTTACGGGATTGGGGGAG TA	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	1/5			chr21	TogoVar
PUM1_chr1_30926506_31070717	30972274	AAGGGAAG others(73): Show AAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00099.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0324 a0001c0001t0006g0326 a0001c0001t0006g0324 a0001c0001t0006g0326	2	334	0.0060	-80	c.150 others(99): Show c.1506+2297_1506+2376delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTT CCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972387	GGGAGGGG others(73): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18970.hp1 NA18993.hp1 others(1): Show HG04199.hp2 NA18970.hp1 NA18993.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0121 a0001c0001t0005g0123 a0001c0001t0005g0127 others(1): Show a0001c0001t0005g0121 a0001c0001t0005g0123 a0001c0001t0005g0127 a0001c0001t0007g0201	4	334	0.0120	-80	c.150 others(99): Show c.1506+2184_1506+2263delTCTTCTCTTCTCTTCTCTTCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972389	GAGGGGAG others(73): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19240.hp2 HG02486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0187 a0001c0002t0001g0023 a0001c0001t0001g0187 a0001c0002t0001g0023	2	334	0.0060	-80	c.150 others(99): Show c.1506+2182_1506+2261delTCTCTTCTCTTCTCTTCTCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30997886	CTGCTAAG others(73): Show CTGCTAAGTTACACTTTCAGCCACTAATTTACATTCTCAGTTATACTGCC ACGGGCCAGATTTTCAAATATTTCCCTGCAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp1 HG02027.hp2 others(2): Show HG00544.hp2 HG01243.hp1 HG02027.hp2 NA18962.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0015 a0001c0002t0022 a0001c0002t0001 a0001c0002t0015 a0001c0002t0022	a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 others(2): Show a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0015g0269 a0001c0002t0022g0205	5	334	0.0150	-80	c.721 others(97): Show c.721-2746_721-2667delTTGCAGGGAAATATTTGAAAATCTGGCC CGTGGCAGTATAACTGAGAATGTAAATTAGTGGCTGAAAGTGTAACTTAG CA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	5/21			chr1	TogoVar
RAB40B_chr17_82649973_82703698	82690523	AGAAGATC others(73): Show AGAAGATCTGCAGAATTGGAGGGAGCATGGAGTGTGCACGTGTGTTGCCG GGGAGCAGAGAGTGTGCACGTGTGTCCAGGG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG02647.hp2 others(2): Show HG01255.hp1 HG01884.hp2 HG02647.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0042 a0001c0001t0001 a0001c0001t0007 a0001c0001t0042	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0007g0010 a0001c0001t0042g0012	5	338	0.0148	-80	c.142 others(97): Show c.142+7852_142+7931delCCCTGGACACACGTGCACACTCTCTGCT CCCCGGCAACACACGTGCACACTCCATGCTCCCTCCAATTCTGCAGATCT TC	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB40B_chr17_82649973_82703698	82690562	GTGTGTTG others(73): Show GTGTGTTGCCGGGGAGCAGAGAGTGTGCACGTGTGTCCAGGGGAAGATCT GCAGAATTGGAGGGAGCATGGAGTGTGCACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG01243.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0020 a0001c0001t0012g0256 a0001c0001t0002g0020 a0001c0001t0012g0256	2	338	0.0059	-80	c.142 others(97): Show c.142+7813_142+7892delTGTGCACACTCCATGCTCCCTCCAATTC TGCAGATCTTCCCCTGGACACACGTGCACACTCTCTGCTCCCCGGCAACA CA	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar

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Search Results (Total: 10000 hits)