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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PDLIM5_chr4_94446942_94673223	94494432	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0215 a0001c0001t0030g0215	1	218	0.0046	27	c.97- others(44): Show c.97-29268_97-29267insTTTTTTTTTTTTTTTTTTTTTTTTTTT		PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAGTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0167 a0001c0002t0003g0167	1	356	0.0028	27	c.139 others(44): Show c.139-2083_139-2082insAAAAACTTTTTTTTTTTTTTTTTTTTT		PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32						chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	334	0.0030	27	c.313 others(44): Show c.313-2864_313-2863insATATATATATATATATTTTTTTTTTTT		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0180 a0001c0001t0057g0180	1	334	0.0030	27	c.313 others(44): Show c.313-2864_313-2863insATATATATATATATATATATATATATA		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34						chr13	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01358.hp1 HG01928.hp2 others(16): Show HG01258.hp2 HG01358.hp1 HG01928.hp2 HG02056.hp1 HG02129.hp1 HG02155.hp1 HG02293.hp2 HG02602.hp1 HG03490.hp1 HG04204.hp2 NA18946.hp1 NA18949.hp1 NA18963.hp1 NA18990.hp1 NA19004.hp2 NA19012.hp1 NA19084.hp2 NA19086.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(16): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0260	19	416	0.0457	27	c.163 others(42): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS1_chr10_26692701_26751798	26746438	C C	CGACACCA others(20): Show CGACACCAGAAAGAACTGCCCATCATCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0006 a0005c0004t0006	a0005c0004t0006g0083 a0005c0004t0006g0083	1	416	0.0024	27	c.121 others(36): Show c.1213_1214insGACACCAGAAAGAACTGCCCATCATCA	p.Gln others(39): Show p.Gln405delinsArgHisGlnLysGluLeuProIleIleLys	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	12/12	1225/1584	1214/1248	405/415			chr10	TogoVar
PDSS2_chr6_107147562_107464564	107173572	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02258.hp2 others(6): Show HG01884.hp1 HG01884.hp2 HG02258.hp2 HG02717.hp1 HG03098.hp2 HG03516.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0100 a0001c0001t0001g0239 a0001c0001t0001g0240 others(6): Show a0001c0001t0001g0100 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0003g0122 a0001c0001t0007g0146 a0001c0001t0007g0156 a0001c0001t0007g0230 a0001c0001t0007g0235 a0001c0001t0007g0241	9	260	0.0346	27	c.104 others(48): Show c.1042-18796_1042-18795insTTTTTTTTTTTTTTTTTTTTTTTT TTT		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225162	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	260	0.0039	27	c.703 others(46): Show c.703-12881_703-12880insTATATATATATATATATATATATATA T		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	260	0.0039	27	c.296 others(46): Show c.296+29088_296+29089insATATATATATATATATTTTTTTTTTT T		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	260	0.0039	27	c.296 others(46): Show c.296+29088_296+29089insATATATATATATATATATATATTTTT T		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar
PDX1_chr13_27915000_27931313	27931144	T T	TGATTTCA others(20): Show TGATTTCAGAGTGAAAGTGGCTGGCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	434	0.0023	27	c.64 others(38): Show c.6443_*6444insGATTTCAGAGTGAAAGTGGCTGGCTGA		PDX1	ENSG00000139515.6	transcript	ENST00000381033.5	protein_coding					4832		chr13	TogoVar
PDXDC1_chr16_14970026_15043332	14984495	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	279	0.0036	27	c.21+ others(42): Show c.21+9276_21+9277insATATATATATATATATATATATATATT		PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr16	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0010 a0004c0006t0010	a0004c0006t0010g0206 a0004c0006t0010g0206	1	216	0.0046	27	c.-36 others(48): Show c.-361+49917_-361+49918insATATATATATATATATATATATAT TTT		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0034 a0034	a0034c0033 a0034c0033	a0034c0033t0007 a0034c0033t0007	a0034c0033t0007g0072 a0034c0033t0007g0072	1	216	0.0046	27	c.-36 others(48): Show c.-361+49917_-361+49918insATATATATATATATATATTTTTTT TTT		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689354	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0007 a0001c0024t0007	a0001c0024t0007g0046 a0001c0024t0007g0046	1	216	0.0046	27	c.-36 others(48): Show c.-361+49917_-361+49918insATATATATATATATATATATATAT ATA		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24						chr5	TogoVar
PDZD2_chr5_31634131_32115932	31694792	T T	TTATTTTA others(20): Show TTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18942.hp2 HG01975.hp2 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0003 a0002c0012t0003 a0001c0001t0003 a0002c0012t0003	a0001c0001t0003g0009 a0002c0012t0003g0011 a0001c0001t0003g0009 a0002c0012t0003g0011	2	216	0.0093	27	c.-36 others(48): Show c.-361+55355_-361+55356insTATTTTATTTTATTTTATTTTATT TTA		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24						chr5	TogoVar
PDZD2_chr5_31634131_32115932	31878555	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19000.hp2 NA18973.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0020 a0002c0003t0005 a0001c0001t0020 a0002c0003t0005	a0001c0001t0020g0019 a0002c0003t0005g0028 a0001c0001t0020g0019 a0002c0003t0005g0028	2	216	0.0093	27	c.476 others(46): Show c.476+78855_476+78856insTTTTTTTTTTTTTTTTTTTTTTTTTT T		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101017892	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02109.hp1 HG02965.hp1 others(2): Show HG02015.hp1 HG02109.hp1 HG02965.hp1 HG04199.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0001 a0001c0001t0005 a0002c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0004 a0002c0002t0005 a0002c0010t0004	a0001c0001t0001g0144 a0001c0001t0005g0213 a0002c0002t0004g0154 others(2): Show a0001c0001t0001g0144 a0001c0001t0005g0213 a0002c0002t0004g0154 a0002c0002t0005g0107 a0002c0010t0004g0254	5	432	0.0116	27	c.152 others(44): Show c.1522+206_1522+207insCTTTCTTTCTTTCTTTCTTTCTTTCTT		PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16						chr10	TogoVar
PDZK1_chr1_145665985_145712368	145690421	G G	GAATAGGA others(20): Show GAATAGGATCAAAAAAAAGAAAGTAATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	322	0.0031	27	c.-2- others(42): Show c.-2-2399_-2-2398insTATTACTTTCTTTTTTTTGATCCTATT		PDZK1	ENSG00000174827.14	transcript	ENST00000417171.6	protein_coding	1/8						chr1	TogoVar
PDZRN3_chr3_73377431_73629941	73563014	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	216	0.0046	27	c.918 others(46): Show c.918+39339_918+39340insTATATATATATATATATATATATATA T		PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9						chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41214430	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01256.hp1 others(4): Show HG00544.hp1 HG00544.hp2 HG01256.hp1 HG01258.hp1 HG02074.hp1 NA18964.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0001c0034	a0001c0001t0002 a0001c0004t0001 a0001c0011t0003 others(1): Show a0001c0001t0002 a0001c0004t0001 a0001c0011t0003 a0001c0034t0003	a0001c0001t0002g0035 a0001c0004t0001g0072 a0001c0004t0001g0077 others(4): Show a0001c0001t0002g0035 a0001c0004t0001g0072 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0004t0001g0157 a0001c0011t0003g0038 a0001c0034t0003g0037	7	206	0.0340	27	c.843 others(46): Show c.843+20262_843+20263insAAAAAAAAAAAAAAAAAAAAAAAAAA A		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41266310	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0043 a0003c0043	a0003c0043t0001 a0003c0043t0001	a0003c0043t0001g0117 a0003c0043t0001g0117	1	206	0.0049	27	c.843 others(46): Show c.843+72147_843+72148insAAAAAAAAAAAAAAAAAAAAAAAAAA A		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77151923	A A	ATAGTTTG others(20): Show ATAGTTTGAAGTCAGGTAGCGTGATGCC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0282 a0002c0002t0003g0282	1	326	0.0031	27	c.333 others(46): Show c.3331+6579_3331+6580insGGCATCACGCTACCTGACTTCAAACT A		PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	8/9						chr15	TogoVar
PEBP1_chr12_118131124_118150584	118133224	T T	TTCATTTC others(20): Show TTCATTTCATTTCATTTCATTTATTTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02809.hp2 others(4): Show HG02451.hp2 HG02647.hp1 HG02809.hp2 HG03041.hp2 HG03130.hp1 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0066 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0066 a0001c0001t0005g0002	7	426	0.0164	27	c.-29 others(38): Show c.-2986_-2985insTCATTTCATTTCATTTCATTTATTTCA		PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding					2899		chr12	TogoVar
PEBP1_chr12_118131124_118150584	118145836	T T	TCGAGTCT others(20): Show TCGAGTCTTATTGCCAAAAGCACCTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	426	0.0024	27	c.10 others(38): Show c.1033_*1034insCGAGTCTTATTGCCAAAAGCACCTTGC		PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding					253		chr12	TogoVar
PER2_chr2_238239044_238293610	238290691	T T	TGTACACT others(20): Show TGTACACTCCACAAATACTTGTTGACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	370	0.0027	27	c.-23 others(38): Show c.-2363_-2362insGTGTCAACAAGTATTTGTGGAGTGTAC		PER2	ENSG00000132326.13	transcript	ENST00000254657.8	protein_coding					2082		chr2	TogoVar
PER2_chr2_238239044_238293610	238293483	C C	CCAAGGAC others(20): Show CCAAGGACTTGGGAGGCTGAGGCAGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0005 a0012c0022t0005	a0012c0022t0005g0153 a0012c0022t0005g0153	1	370	0.0027	27	c.-51 others(38): Show c.-5155_-5154insTGCCTGCCTCAGCCTCCCAAGTCCTTG		PER2	ENSG00000132326.13	transcript	ENST00000254657.8	protein_coding					4874		chr2	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0128 a0001c0003t0001g0128	1	410	0.0024	27	c.113 others(46): Show c.1137-2080_1137-2079insAAAAAAAAAAATATATATATATATAT A		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806813	A A	AAAAAAAA others(20): Show AAAAAAAAAAAATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	410	0.0024	27	c.113 others(46): Show c.1137-2080_1137-2079insAAAAAAAAAAATATATATATATATAT G		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21						chr1	TogoVar
PER3_chr1_7779291_7850177	7815991	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0147 a0001c0003t0001g0147	1	410	0.0024	27	c.152 others(46): Show c.1523-3268_1523-3267insAAAAAAAAAAAAAAAAAAAAAAAAAA A		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0061 a0001c0001t0049g0061	1	430	0.0023	27	c.57 others(38): Show c.5727_*5728insATATATATATATATATATATATATATA		PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding					2190		chr6	TogoVar
PEX10_chr1_2398974_2417564	2401253	T T	TCCTCCCT others(20): Show TCCTCCCTCCTCCTCCTCCCTCCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	358	0.0028	27	c.45 others(38): Show c.4512_*4513insGAGGAGGAGGGAGGAGGAGGAGGGAGG		PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding					2720		chr1	TogoVar
PEX14_chr1_10469950_10635758	10577537	T T	TATATATA others(20): Show TATATATATATATATATATATATTATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	258	0.0039	27	c.170 others(46): Show c.170-21679_170-21678insTATACATATATATATATATATATATA T		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX5L_chr3_179789958_180041937	179930233	A A	AATGTTTA others(20): Show AATGTTTAAAAAATGTTTAAAAAAACAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0114 a0001c0001t0025g0114	1	220	0.0046	27	c.94- others(44): Show c.94-31988_94-31987insATGTTTTTTTAAACATTTTTTAAACAT		PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	2/14						chr3	TogoVar
PEX5_chr12_7184686_7216459	7196483	T T	TATATAAT others(20): Show TATATAATGTAATAATTATATATGTCAC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	428	0.0023	27	c.449 others(44): Show c.449-2443_449-2417dupTAATGTAATAATTATATATGTCACATA		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196589	C C	CATACATA others(20): Show CATACATAATGTAATAATTATATGTCAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01243.hp2 others(16): Show HG00438.hp2 HG00642.hp1 HG01243.hp2 HG01256.hp1 HG02132.hp2 HG02148.hp2 HG02602.hp1 HG02602.hp2 HG02976.hp2 HG03017.hp1 NA18952.hp2 NA18968.hp1 NA18989.hp2 NA19005.hp2 NA19064.hp2 NA19074.hp2 NA19076.hp2 NA19078.hp1 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0004c0004t0003 a0001c0001t0003 a0004c0004t0003	a0001c0001t0003g0010 a0001c0001t0003g0016 a0001c0001t0003g0032 others(9): Show a0001c0001t0003g0010 a0001c0001t0003g0016 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0179 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0201 a0004c0004t0003g0309	19	428	0.0444	27	c.449 others(44): Show c.449-2421_449-2420insTACATAATGTAATAATTATATGTCATA		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196805	C C	CATAATGT others(20): Show CATAATGTAATAATTATATATGTCACAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0273 a0001c0001t0004g0273	1	428	0.0023	27	c.449 others(44): Show c.449-2106_449-2080dupATGTCACATATAATGTAATAATTATAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196951	T T	TTATATGT others(20): Show TTATATGTCACATATAATGTAATAATTA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	428	0.0023	27	c.449 others(44): Show c.449-2010_449-1984dupAATTATATATGTCACATATAATGTAAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197314	C C	CATATGTC others(20): Show CATATGTCATATACAATGTAATAATTAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	428	0.0023	27	c.449 others(44): Show c.449-1638_449-1612dupGTCATATACAATGTAATAATTATATAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197440	T T	TTATGTTA others(20): Show TTATGTTATATATAATGTAATAATTATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	428	0.0023	27	c.449 others(44): Show c.449-1555_449-1529dupGTAATAATTATATATGTTATATATAAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PFAS_chr17_8244289_8275486	8270632	G G	GGACTGTG others(20): Show GGACTGTGGATAGAGGTCCCTTCCTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(201): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19067.hp2 NA19085.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(18): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0017 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0028 a0029 a0030	a0001c0001 a0002c0002 a0002c0009 others(21): Show a0001c0001 a0002c0002 a0002c0009 a0002c0035 a0004c0004 a0005c0005 a0006c0008 a0006c0012 a0008c0007 a0009c0014 a0010c0010 a0011c0011 a0012c0013 a0017c0015 a0019c0022 a0020c0030 a0021c0033 a0022c0031 a0023c0032 a0024c0028 a0025c0029 a0028c0023 a0029c0036 a0030c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0010 a0002c0002t0017 a0002c0002t0019 a0002c0009t0002 a0002c0035t0002 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0012 a0004c0004t0018 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0006c0008t0001 a0006c0012t0004 a0008c0007t0003 a0008c0007t0020 a0009c0014t0002 a0010c0010t0003 a0011c0011t0003 a0012c0013t0011 a0017c0015t0001 a0019c0022t0002 a0020c0030t0002 a0021c0033t0002 a0022c0031t0002 a0023c0032t0002 a0024c0028t0016 a0025c0029t0002 a0028c0023t0003 a0029c0036t0002 a0030c0037t0002	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0027 others(108): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0002g0132 a0001c0001t0007g0038 a0001c0001t0007g0159 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0024 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0079 a0002c0002t0003g0017 a0002c0002t0003g0073 a0002c0002t0004g0003 a0002c0002t0005g0014 a0002c0002t0005g0057 a0002c0002t0005g0080 a0002c0002t0010g0003 a0002c0002t0017g0051 a0002c0002t0019g0004 a0002c0009t0002g0004 a0002c0035t0002g0003 a0004c0004t0002g0009 a0004c0004t0002g0010 a0004c0004t0002g0015 a0004c0004t0002g0031 a0004c0004t0002g0041 a0004c0004t0002g0076 a0004c0004t0002g0116 a0004c0004t0002g0118 a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0156 a0004c0004t0002g0157 a0004c0004t0002g0158 a0004c0004t0003g0007 a0004c0004t0003g0025 a0004c0004t0005g0015 a0004c0004t0005g0123 a0004c0004t0012g0015 a0004c0004t0018g0015 a0005c0005t0001g0026 a0005c0005t0002g0090 a0005c0005t0002g0094 a0005c0005t0002g0097 a0005c0005t0002g0146 a0005c0005t0002g0147 a0005c0005t0003g0022 a0005c0005t0003g0037 a0005c0005t0003g0129 a0006c0008t0001g0054 a0006c0012t0004g0003 a0008c0007t0003g0018 a0008c0007t0003g0072 a0008c0007t0003g0075 a0008c0007t0020g0018 a0009c0014t0002g0010 a0010c0010t0003g0007 a0010c0010t0003g0078 a0011c0011t0003g0007 a0011c0011t0003g0074 a0012c0013t0011g0153 a0012c0013t0011g0154 a0017c0015t0001g0028 a0019c0022t0002g0077 a0020c0030t0002g0004 a0021c0033t0002g0067 a0022c0031t0002g0003 a0023c0032t0002g0004 a0024c0028t0016g0047 a0025c0029t0002g0003 a0028c0023t0003g0082 a0029c0036t0002g0012 a0030c0037t0002g0010	204	388	0.5258	27	c.13 others(38): Show c.1368_*1369insGACTGTGGATAGAGGTCCCTTCCTCAT		PFAS	ENSG00000178921.14	transcript	ENST00000314666.11	protein_coding					147		chr17	TogoVar
PFKP_chr10_3062548_3141802	3073674	C C	CTAAACGT others(20): Show CTAAACGTACATATGTAAATGATCTGAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0153 a0001c0004t0006g0153	1	402	0.0025	27	c.112 others(44): Show c.112+5968_112+5994dupTAAACGTACATATGTAAATGATCTGAT		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFN3_chr5_177395109_177405661	177396430	A A	ATCCGCTC others(20): Show ATCCGCTCTCCCAGTGCCCCCGCGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	27	c.37 others(38): Show c.3706_*3732dupCCTCCGCGGGGGCACTGGGAGAGCGGA		PFN3	ENSG00000196570.3	transcript	ENST00000358571.3	protein_coding					3678		chr5	TogoVar
PFN3_chr5_177395109_177405661	177396461	G G	GCTCTCCC others(20): Show GCTCTCCCAGTGCCCCCGCGGAGGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03041.hp1 NA19089.hp1 HG01109.hp1 HG03041.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	416	0.0072	27	c.36 others(38): Show c.3675_*3701dupAGGACCTCCGCGGGGGCACTGGGAGAG		PFN3	ENSG00000196570.3	transcript	ENST00000358571.3	protein_coding					3647		chr5	TogoVar
PFN3_chr5_177395109_177405661	177396515	T T	TCTCTCCC others(20): Show TCTCTCCCAGTGCCCCCGCGGAGGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	27	c.36 others(38): Show c.3621_*3647dupCGGACCTCCGCGGGGGCACTGGGAGAG		PFN3	ENSG00000196570.3	transcript	ENST00000358571.3	protein_coding					3593		chr5	TogoVar
PGAP6_chr16_365788_386978	370302	A A	ACTCTCAC others(20): Show ACTCTCACCCGCTACCCCCGGCCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	27	c.16 others(38): Show c.1684_*1685insCCGGGGGCCGGGGGTAGCGGGTGAGAG		PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding					485		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(20): Show GCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG03486.hp1 NA19062.hp1 HG00639.hp1 HG03486.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0014 a0001c0001t0002 a0002c0005t0014	a0001c0001t0002g0001 a0002c0005t0014g0167 a0001c0001t0002g0001 a0002c0005t0014g0167	3	376	0.0080	27	c.15 others(38): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAG		PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding					397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(20): Show GCTACCCCGGCCCCGGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01891.hp2 others(10): Show HG01069.hp2 HG01071.hp2 HG01891.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02717.hp1 HG02886.hp2 HG02965.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0004c0006 a0010c0015	a0001c0001t0006 a0002c0002t0009 a0002c0005t0006 others(3): Show a0001c0001t0006 a0002c0002t0009 a0002c0005t0006 a0002c0005t0013 a0004c0006t0008 a0010c0015t0014	a0001c0001t0006g0013 a0001c0001t0006g0078 a0002c0002t0009g0011 others(6): Show a0001c0001t0006g0013 a0001c0001t0006g0078 a0002c0002t0009g0011 a0002c0005t0006g0049 a0002c0005t0006g0050 a0002c0005t0006g0052 a0002c0005t0013g0024 a0004c0006t0008g0164 a0010c0015t0014g0149	13	376	0.0346	27	c.15 others(38): Show c.1596_*1597insGGAGTGAGAGCCCCGGGGCCGGGGTAG		PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding					397		chr16	TogoVar
PGGT1B_chr5_115199012_115267877	115238291	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0290 a0001c0001t0026g0290	1	372	0.0027	27	c.328 others(42): Show c.328-309_328-283dupAAAAAAAAAAAAAAAAAAAAAAAAAAA		PGGT1B	ENSG00000164219.10	transcript	ENST00000419445.6	protein_coding	3/8						chr5	TogoVar
PGPEP1_chr19_18335598_18374950	18338732	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02071.hp2 HG02280.hp2 others(3): Show HG01074.hp2 HG02071.hp2 HG02280.hp2 HG02970.hp2 NA18948.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0034 others(3): Show a0001c0001t0013 a0001c0001t0014 a0001c0001t0034 a0001c0001t0211 a0001c0001t0240 a0001c0001t0248	a0001c0001t0013g0305 a0001c0001t0014g0291 a0001c0001t0034g0026 others(3): Show a0001c0001t0013g0305 a0001c0001t0014g0291 a0001c0001t0034g0026 a0001c0001t0211g0292 a0001c0001t0240g0298 a0001c0001t0248g0296	6	412	0.0146	27	c.-19 others(38): Show c.-1950_-1949insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding					1865		chr19	TogoVar

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Search Results (Total: 7463 hits)