JoGo: Joint Open Genome and Omics Platform

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
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	334	0.0030	30	c.313 others(47): Show c.313-2864_313-2863insATATATATATATTTTTTTTTTTTTTTTT TT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATTTTT others(23): Show ATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	334	0.0030	30	c.313 others(47): Show c.313-2864_313-2863insATTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32734011	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0309 a0001c0001t0038g0309	1	334	0.0030	30	c.224 others(49): Show c.2248-1158_2248-1157insCACACACACACACACACACACACACA AACA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG01175.hp1 others(17): Show HG00140.hp1 HG00558.hp1 HG01175.hp1 HG01346.hp2 HG01433.hp2 HG01891.hp1 HG01975.hp1 HG01981.hp1 HG02602.hp2 HG03491.hp2 HG04199.hp1 NA18945.hp2 NA18946.hp2 NA18959.hp2 NA18970.hp1 NA18991.hp2 NA19002.hp2 NA19063.hp1 NA19085.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0002g0118	20	416	0.0481	30	c.-46 others(41): Show c.-4633_-4632insTATATATATATATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	416	0.0024	30	c.163 others(45): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107225153	A A	ATATATTT others(23): Show ATATATTTATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03471.hp2 HG02630.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0238 a0001c0001t0001g0106 a0001c0001t0001g0238	2	260	0.0077	30	c.703 others(49): Show c.703-12872_703-12871insAATATATATATATATATATATATAAA TATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107402466	A A	ATATATAT others(23): Show ATATATATGTATATATGTATACGTATATACG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	260	0.0039	30	c.296 others(49): Show c.296+56523_296+56524insCGTATATACGTATACATATATACATA TATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	260	0.0039	30	c.296 others(49): Show c.296+29088_296+29089insATATATATATATATATATATATATTT TTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984476	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	279	0.0036	30	c.21+ others(45): Show c.21+9276_21+9277insATATATATATATATATATATATATATATAT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	14984495	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	279	0.0036	30	c.21+ others(45): Show c.21+9276_21+9277insATATATATATATATATATATATATATATTT	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(23): Show ATATATATATATATATATATTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0082 a0002c0011t0001g0082	1	216	0.0046	30	c.-36 others(51): Show c.-361+49917_-361+49918insATATATATATATATATATTTTTTT TCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31849903	T T	TACATATA others(23): Show TACATATATATATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0116 a0001c0001t0006g0116	1	216	0.0046	30	c.476 others(49): Show c.476+50196_476+50197insCATATATATATACACATATATATATA TACA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31849903	T T	TACATATA others(23): Show TACATATATATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19057.hp1 HG00673.hp1 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0001c0005 a0003c0004	a0001c0005t0024 a0003c0004t0003 a0001c0005t0024 a0003c0004t0003	a0001c0005t0024g0119 a0003c0004t0003g0022 a0001c0005t0024g0119 a0003c0004t0003g0022	2	216	0.0093	30	c.476 others(49): Show c.476+50257_476+50286dupTATATATATATACACATATATATATA TACA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31850226	G G	GTATATAT others(23): Show GTATATATATATATATATATAAGTATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0183 a0001c0007t0009g0183	1	216	0.0046	30	c.476 others(49): Show c.476+50520_476+50521insTAAGTATATATATATATATATATATA TATA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0018 a0002c0003t0005g0018	1	216	0.0046	30	c.477 others(49): Show c.477-13620_477-13619insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989419	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTATTTA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0085 a0002c0011t0002g0085	1	216	0.0046	30	c.978 others(47): Show c.978+5764_978+5765insTTTTTTTTTTTTTTTTTTTTTTTTATTT AT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989423	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	216	0.0046	30	c.978 others(47): Show c.978+5784_978+5785insTTTTATTTATTTATTTTTTTTTTTTTTT TT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989424	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02683.hp2 HG02886.hp1 HG00621.hp2 HG02683.hp2 HG02886.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0002c0040 a0004c0006 a0002c0003 a0002c0040 a0004c0006	a0002c0003t0002 a0002c0040t0032 a0004c0006t0010 a0002c0003t0002 a0002c0040t0032 a0004c0006t0010	a0002c0003t0002g0164 a0002c0040t0032g0105 a0004c0006t0010g0173 a0002c0003t0002g0164 a0002c0040t0032g0105 a0004c0006t0010g0173	3	216	0.0139	30	c.978 others(47): Show c.978+5784_978+5785insTTTTTATTTATTTATTTTTTTTTTTTTT TT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989424	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTATTTA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	216	0.0046	30	c.978 others(47): Show c.978+5784_978+5785insTTTTTTTTTATTTATTTTTTTTTTTTTT TT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32025591	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0158 a0002c0002t0018g0158	1	216	0.0046	30	c.140 others(51): Show c.1408-11612_1408-11611insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD8_chr10_117272274_117380440	117276089	G G	GAGCAACC others(23): Show GAGCAACCTGGGCAATGTAGTGAGATGTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0214 a0001c0001t0056g0214	1	322	0.0031	30	c.71 others(41): Show c.7149_*7178dupATGACATCTCACTACATTGCCCAGGTTGCT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding		1184		chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	216	0.0046	30	c.918 others(49): Show c.918+39340_918+39341insAAAATATATATATATATATATATATA TATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73573772	C C	CACATATA others(23): Show CACATATACATATACATATACATATACATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0206 a0002c0026t0001g0206	1	216	0.0046	30	c.918 others(49): Show c.918+28581_918+28582insATATGTATATGTATATGTATATGTAT ATGT	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(23): Show GTATACATACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18945.hp1 NA19012.hp1 others(1): Show HG02074.hp1 NA18945.hp1 NA19012.hp1 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0002 a0001c0004t0001 a0003c0005t0001 a0001c0001t0002 a0001c0004t0001 a0003c0005t0001	a0001c0001t0002g0035 a0001c0004t0001g0069 a0003c0005t0001g0070 others(1): Show a0001c0001t0002g0035 a0001c0004t0001g0069 a0003c0005t0001g0070 a0003c0005t0001g0071	4	206	0.0194	30	c.843 others(51): Show c.843+122864_843+122865insCATACATATATATATATATATATA TATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(23): Show GTATACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18942.hp1 NA19010.hp1 others(1): Show HG02683.hp1 NA18942.hp1 NA19010.hp1 NA20905.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0003 a0007c0014 a0001c0001 a0004c0003 a0007c0014	a0001c0001t0002 a0004c0003t0001 a0007c0014t0001 a0001c0001t0002 a0004c0003t0001 a0007c0014t0001	a0001c0001t0002g0110 a0004c0003t0001g0105 a0004c0003t0001g0108 others(1): Show a0001c0001t0002g0110 a0004c0003t0001g0105 a0004c0003t0001g0108 a0007c0014t0001g0127	4	206	0.0194	30	c.843 others(51): Show c.843+122864_843+122865insCATATATATATATATATATATATA TATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77250175	G G	GTATATGT others(23): Show GTATATGTATATATATACATATATATACATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03579.hp2 HG03540.hp2 HG03579.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0010 a0006c0007t0010	a0006c0007t0010g0202 a0006c0007t0010g0253 a0006c0007t0010g0202 a0006c0007t0010g0253	2	326	0.0061	30	c.-11 others(49): Show c.-115+2162_-115+2191dupTATGTATATATATGTATATATATACA TATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77386102	C C	CAGCTAAA others(23): Show CAGCTAAACATATATAGAACTAAAGGCCAGG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0013 a0001c0001t0031g0013	1	326	0.0031	30	c.-66 others(51): Show c.-665-20907_-665-20878dupCCTGGCCTTTAGTTCTATATATGT TTAGCT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	1/9			chr15	TogoVar
PEBP1_chr12_118131124_118150584	118133194	A A	ATTATTTT others(23): Show ATTATTTTATTTTATTTTATTTTATTTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01884.hp1 HG03195.hp2 others(1): Show HG00323.hp1 HG01884.hp1 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0024 a0001c0001t0003g0060 a0001c0001t0003g0061 others(1): Show a0001c0001t0003g0024 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0008g0127	4	426	0.0094	30	c.-30 others(41): Show c.-3016_-3015insTTATTTTATTTTATTTTATTTTATTTTATT	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2929		chr12	TogoVar
PECR_chr2_216033388_216086809	216042979	G G	GTATATAT others(23): Show GTATATATATATACACATACATATATGTGTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG02145.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0089 a0001c0004t0001g0090	2	398	0.0050	30	c.826 others(45): Show c.826+924_826+925insTACACATATATGTATGTGTATATATATATA	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	7/7			chr2	TogoVar
PECR_chr2_216033388_216086809	216043027	A A	ATATGTGT others(23): Show ATATGTGTGTGTATATATATATACACATACG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0313 a0001c0001t0005g0313	1	398	0.0025	30	c.826 others(45): Show c.826+876_826+877insCGTATGTGTATATATATATACACACACATA	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	7/7			chr2	TogoVar
PECR_chr2_216033388_216086809	216043037	G G	GTATATAT others(23): Show GTATATATATATACACATACGTATATATGTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01070.hp1 others(19): Show HG00280.hp2 HG00323.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01175.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG02055.hp2 HG02615.hp1 HG02630.hp2 HG02735.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03471.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 a0001c0001t0001 a0001c0001t0007 a0002c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0033 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0372 a0001c0001t0001g0384 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0007g0079 a0002c0002t0002g0376 a0002c0002t0002g0378 a0002c0002t0002g0379	22	398	0.0553	30	c.826 others(45): Show c.826+866_826+867insTACATATATACGTATGTGTATATATATATA	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	7/7			chr2	TogoVar
PECR_chr2_216033388_216086809	216043037	G G	GTATATAT others(23): Show GTATATATATATACACATACGTATATGTGTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02451.hp1 others(5): Show HG01891.hp2 HG02257.hp2 HG02451.hp1 HG02717.hp1 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0312 a0001c0001t0005g0314 a0001c0001t0005g0316 others(5): Show a0001c0001t0004g0312 a0001c0001t0005g0314 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0324	8	398	0.0201	30	c.826 others(45): Show c.826+866_826+867insTACACATATACGTATGTGTATATATATATA	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	7/7			chr2	TogoVar
PERM1_chr1_970198_987093	976719	C C	CCCCAGGA others(23): Show CCCCAGGAACCGCCTCCCACTCCCCCCACAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	408	0.0025	30	c.215 others(45): Show c.2150-96_2150-95insTTGTGGGGGGAGTGGGAGGCGGTTCCTGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976875	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	408	0.0025	30	c.215 others(47): Show c.2150-252_2150-251insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976907	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG03209.hp2 others(1): Show HG02922.hp1 HG03098.hp1 HG03209.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0013 a0002c0005t0005 a0001c0001t0013 a0002c0005t0005	a0001c0001t0013g0115 a0002c0005t0005g0230 a0002c0005t0005g0231 others(1): Show a0001c0001t0013g0115 a0002c0005t0005g0230 a0002c0005t0005g0231 a0002c0005t0005g0232	4	408	0.0098	30	c.215 others(47): Show c.2150-284_2150-283insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977065	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01943.hp2 HG01975.hp1 others(3): Show HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 NA18945.hp1 NA19075.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0005 a0001c0007t0001g0092 a0001c0007t0001g0005 a0001c0007t0001g0092	6	408	0.0147	30	c.215 others(47): Show c.2150-442_2150-441insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977160	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02015.hp2 HG02040.hp1 others(5): Show HG00558.hp1 HG02015.hp2 HG02040.hp1 HG03834.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp2 NA19078.hp2	a0001 a0007 a0015 a0001 a0007 a0015	a0001c0001 a0007c0010 a0015c0038 a0001c0001 a0007c0010 a0015c0038	a0001c0001t0001 a0001c0001t0006 a0007c0010t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0007c0010t0001 a0015c0038t0001	a0001c0001t0001g0003 a0001c0001t0001g0150 a0001c0001t0001g0154 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0006g0206 a0007c0010t0001g0095 a0015c0038t0001g0203	8	408	0.0196	30	c.215 others(47): Show c.2150-537_2150-536insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977192	C C	CAACCCCG others(23): Show CAACCCCGGGAACCACCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00733.hp2 others(6): Show HG00140.hp1 HG00642.hp1 HG00733.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01993.hp2 HG03688.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0011 others(2): Show a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0240 a0002c0002t0002g0245	9	408	0.0221	30	c.215 others(47): Show c.2150-569_2150-568insCGGGGGGAGTGGGAGGTGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977444	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	408	0.0025	30	c.215 others(47): Show c.2150-821_2150-820insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977444	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCGCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0089 a0006c0008t0001g0089	1	408	0.0025	30	c.215 others(47): Show c.2150-821_2150-820insCGCGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	978047	A A	ACCCCCCC others(23): Show ACCCCCCCAACCCCAGGAACCGCCTCCCAAC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0241 a0002c0002t0002g0241	1	408	0.0025	30	c.214 others(47): Show c.2149+833_2149+834insGTTGGGAGGCGGTTCCTGGGGTTGGGGG GG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01943.hp1 HG02602.hp1 others(6): Show HG01099.hp1 HG01943.hp1 HG02602.hp1 NA18950.hp1 NA18973.hp1 NA18981.hp1 NA18986.hp1 NA19058.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0004 a0001c0001t0093 a0002c0002t0005 others(2): Show a0001c0001t0004 a0001c0001t0093 a0002c0002t0005 a0002c0002t0011 a0002c0008t0011	a0001c0001t0004g0010 a0001c0001t0093g0194 a0002c0002t0005g0006 others(5): Show a0001c0001t0004g0010 a0001c0001t0093g0194 a0002c0002t0005g0006 a0002c0002t0005g0088 a0002c0002t0005g0245 a0002c0002t0011g0009 a0002c0002t0011g0214 a0002c0008t0011g0212	9	430	0.0209	30	c.57 others(41): Show c.5727_*5728insATATATATATATATATATATATATATATAT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PEX11G_chr19_7471875_7494035	7474754	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03209.hp1 NA19077.hp2 HG01891.hp2 HG03209.hp1 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0005 a0001c0004t0001g0003 a0001c0002t0001g0005 a0001c0004t0001g0003	3	416	0.0072	30	c.24 others(41): Show c.2447_*2448insACACACACACACACACACACACACACACAC	PEX11G	ENSG00000104883.8	transcript	ENST00000221480.6	protein_coding		2120		chr19	TogoVar
PEX1_chr7_92482025_92533520	92516008	A A	AAAGAAAA others(23): Show AAAGAAAAGAGAAGAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0045 a0004c0007t0001g0045	1	310	0.0032	30	c.123 others(49): Show c.1239+1267_1239+1268insCTCTTCTCTTCTCTTCTCTTCTCTTT TCTT	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX1_chr7_92482025_92533520	92516055	A A	AGAGAAGA others(23): Show AGAGAAGAGAAGAGAAGAGAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0238 a0001c0002t0002g0238	1	310	0.0032	30	c.123 others(49): Show c.1239+1220_1239+1221insCTTTTCTTTTTTCTCTTCTCTTCTCT TCTC	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX3_chr6_143445805_143495616	143455171	A A	ATTTTCTT others(23): Show ATTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp1 HG06807.hp1 others(3): Show HG02809.hp2 HG03195.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0031 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0242 a0001c0001t0007g0220	6	412	0.0146	30	c.74- others(45): Show c.74-3904_74-3875dupCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	PEX3	ENSG00000034693.15	transcript	ENST00000367591.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
PEX5L_chr3_179789958_180041937	180024347	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02615.hp1 HG02647.hp2 others(5): Show HG00741.hp2 HG02615.hp1 HG02647.hp2 HG03579.hp2 HG03927.hp1 NA18906.hp2 NA18967.hp2 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0022 others(5): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0022 a0001c0001t0060 a0001c0001t0063 a0001c0001t0067 a0001c0001t0095 a0002c0002t0025	a0001c0001t0001g0119 a0001c0001t0011g0093 a0001c0001t0022g0090 others(5): Show a0001c0001t0001g0119 a0001c0001t0011g0093 a0001c0001t0022g0090 a0001c0001t0060g0058 a0001c0001t0063g0081 a0001c0001t0067g0204 a0001c0001t0095g0210 a0002c0002t0025g0207	8	220	0.0364	30	c.21+ others(47): Show c.21+12231_21+12232insATATATATATATATATATATATATATAT AT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	180024373	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0099 a0001c0001t0013g0099	1	220	0.0046	30	c.21+ others(47): Show c.21+12205_21+12206insGTATATATATATATATATATATATATAT AT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PFKP_chr10_3062548_3141802	3098672	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0011 a0001c0017t0011	a0001c0017t0011g0396 a0001c0017t0011g0396	1	402	0.0025	30	c.187 others(45): Show c.187-585_187-584insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106615	G G	GCCCCTCT others(23): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0020 a0001c0047t0020	a0001c0047t0020g0212 a0001c0047t0020g0212	1	402	0.0025	30	c.775 others(45): Show c.775-597_775-596insCCTCTCCTCACCCCTGCCCCTCTCCTCACC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar

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