Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTPRT_chr20_42067756_43194906	42086749	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0061 a0001c0007t0001g0061	1	62	0.0161	44	c.384 others(61): Show c.3847-897_3847-896insATATATATATATATATATATATATATAT ATATATATATATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PUDP_chrX_7043920_7153153	7044728	G G	GTAGGGCC others(37): Show GTAGGGCCTTGGCGAATTTTGTTATTGCTTCAAATGATCATCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0102 a0002c0003t0013g0102	1	260	0.0039	44	c.55 others(55): Show c.5567_*5568insACTGATGATCATTTGAAGCAATAACAAAATTCGC CAAGGCCCTA	PUDP	ENSG00000130021.15	transcript	ENST00000381077.10	protein_coding		4191		chrX	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	358	0.0028	44	c.195 others(63): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM3_chr9_2799152_2849095	2821443	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0007 a0017c0021t0007	a0017c0021t0007g0312 a0017c0021t0007g0312	1	420	0.0024	44	c.118 others(63): Show c.1189-1346_1189-1345insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	12/17			chr9	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA19084.hp2 HG01069.hp1 HG01071.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0190 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0001g0190 a0001c0001t0002g0300 a0001c0001t0002g0301	3	350	0.0086	44	c.22 others(55): Show c.2213_*2214insATATATATATATATATATATATATATATATATAT ATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		926		chr7	TogoVar
PWWP2A_chr5_160086339_160124450	160109780	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	384	0.0026	44	c.584 others(61): Show c.584+9024_584+9025insTATTATATTATTTTATATATATATATAT ATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109782	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	384	0.0026	44	c.584 others(61): Show c.584+9022_584+9023insTATTATATTATTTTATATATATATATAT ATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109784	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03516.hp2 NA18946.hp2 others(4): Show HG00423.hp1 HG03516.hp2 NA18946.hp2 NA18995.hp1 NA19007.hp1 NA19012.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0153 a0001c0001t0001g0318 a0001c0001t0001g0323 others(4): Show a0001c0001t0001g0153 a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0007g0071 a0001c0001t0007g0087 a0001c0001t0007g0095 a0001c0001t0007g0096	7	384	0.0182	44	c.584 others(61): Show c.584+9020_584+9021insTATTATATTATTTTATATATATATATAT ATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109786	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18971.hp1 NA18989.hp2 HG02155.hp2 NA18971.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0050 a0001c0001t0001 a0001c0001t0027 a0001c0001t0050	a0001c0001t0001g0137 a0001c0001t0027g0073 a0001c0001t0050g0072 a0001c0001t0001g0137 a0001c0001t0027g0073 a0001c0001t0050g0072	3	384	0.0078	44	c.584 others(61): Show c.584+9018_584+9019insTATTATATTATTTTATATATATATATAT ATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP3A_chr19_1349959_1383429	1375566	A A	AATATATA others(37): Show AATATATAATTTTATAATATAAAATAATATAATTTTATATATTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0242 a0001c0001t0006g0253 a0001c0001t0006g0242 a0001c0001t0006g0253	2	412	0.0049	44	c.207 others(61): Show c.2076-947_2076-946insAATTTTATAATATAAAATAATATAATTT TATATATTGTATATAT	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PXDNL_chr8_51314577_51814445	51743908	A A	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0015 a0002c0002t0004g0015	1	122	0.0082	44	c.164 others(63): Show c.164+65272_164+65273insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1658065	T T	TCCCTCCC others(37): Show TCCCTCCCTCCCCCTCTCTCTCCCTCCCCCTCTCTCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0014 a0001c0022t0014	a0001c0022t0014g0047 a0001c0022t0014g0047	1	322	0.0031	44	c.183 others(63): Show c.1837+2815_1837+2816insGGAGGGAGAGAGAGAGGGGGAGGGAG AGAGAGGGGGAGGGAGGG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	14/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1695273	A A	AGGACAGA others(37): Show AGGACAGAGAGGTGCTGTCCCATCCACAGGCCCCTGTGCCCTGCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA20905.hp2 NA18971.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0192 a0001c0002t0003g0004 a0001c0001t0002g0192 a0001c0002t0003g0004	2	322	0.0062	44	c.201 others(61): Show c.201-2183_201-2140dupAGCAGGGCACAGGGGCCTGTGGATGGGA CAGCACCTCTCTGTCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1695398	G G	GAGAGGTG others(37): Show GAGAGGTGCTGTCCCATCCACAGGCCCCTGTGCCCTGCTGGACAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03540.hp2 HG03130.hp2 HG03540.hp2	a0002 a0003 a0002 a0003	a0002c0009 a0003c0042 a0002c0009 a0003c0042	a0002c0009t0011 a0003c0042t0005 a0002c0009t0011 a0003c0042t0005	a0002c0009t0011g0220 a0003c0042t0005g0219 a0002c0009t0011g0220 a0003c0042t0005g0219	2	322	0.0062	44	c.201 others(61): Show c.201-2265_201-2264insGTGTCCAGCAGGGCACAGGGGCCTGTGG ATGGGACAGCACCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1695686	A A	ATGGACAG others(37): Show ATGGACAGAGAGGTGCTGTCCCATCCACAGGCCCCTGTGCCCTGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00609.hp2 others(43): Show HG00438.hp2 HG00544.hp1 HG00609.hp2 HG01109.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02615.hp2 HG02717.hp2 HG02976.hp1 HG03139.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 NA18612.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp2 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19062.hp1 NA19068.hp2 NA19070.hp1 NA19084.hp1 NA19087.hp2 NA19090.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0014 a0001c0039 a0002c0009 a0011c0027 a0012c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0021 a0001c0002t0003 a0001c0003t0002 a0001c0003t0012 a0001c0008t0002 a0001c0014t0013 a0001c0039t0006 a0002c0009t0011 a0011c0027t0002 a0012c0038t0001	a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0226 others(43): Show a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0292 a0001c0001t0002g0018 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0115 a0001c0001t0002g0211 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0266 a0001c0001t0002g0277 a0001c0001t0002g0293 a0001c0001t0003g0241 a0001c0001t0012g0272 a0001c0001t0012g0278 a0001c0001t0021g0160 a0001c0002t0003g0020 a0001c0002t0003g0098 a0001c0002t0003g0100 a0001c0002t0003g0131 a0001c0002t0003g0229 a0001c0002t0003g0239 a0001c0003t0002g0124 a0001c0003t0012g0123 a0001c0008t0002g0202 a0001c0008t0002g0273 a0001c0008t0002g0276 a0001c0008t0002g0297 a0001c0008t0002g0298 a0001c0008t0002g0319 a0001c0014t0013g0145 a0001c0039t0006g0045 a0002c0009t0011g0301 a0011c0027t0002g0129 a0012c0038t0001g0238	46	322	0.1429	44	c.201 others(61): Show c.201-2596_201-2553dupGCAGGGCACAGGGGCCTGTGGATGGGAC AGCACCTCTCTGTCCA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXYLP1_chr3_141226825_141299924	141299553	T T	TTTTATTG others(37): Show TTTTATTGTTTAATGTTTCCTGATTTGTTTGATGTTCTGTATTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	384	0.0026	44	c.63 others(55): Show c.6348_*6349insTTTATTGTTTAATGTTTCCTGATTTGTTTGATGT TCTGTATTTG	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding		4630		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463082	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTCTTTCTTTCTTTTTCTCTCTCCCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	434	0.0023	44	c.16 others(55): Show c.1626_*1627insTTTCTTTCTTTCTTCTTTCTTTCTTTTTCTCTCT CCCTCCCTCC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1627		chr3	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATATATA others(37): Show TATATATAACATATATATAACATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	442	0.0023	44	c.120 others(61): Show c.120+2326_120+2327insACATATATATAACATATATATATAACAT ATATATAACATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATATCAT others(37): Show TATATCATATATATATAACATATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	442	0.0023	44	c.120 others(61): Show c.120+2323_120+2324insCATATATATATAACATATATATATATAA CATATATATAACATAT	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347196	T T	TATATATA others(37): Show TATATATAACATATATATATAACATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0138 a0004c0005t0001g0138	1	442	0.0023	44	c.120 others(61): Show c.120+2352_120+2353insACATATATATATAACATATATATAACAT ATATATAACATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QRICH2_chr17_76269049_76313276	76276942	T T	TGGGAGGC others(37): Show TGGGAGGCCTGGGAGGCCGGAATGCTGCTGGGCAGGCAGGTGGCC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	364	0.0028	44	c.526 others(61): Show c.5265+177_5266-176dupGGCCACCTGCCTGCCCAGCAGCATTCCG GCCTCCCAGGCCTCCC	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	16/18			chr17	TogoVar
RAB11FIP3_chr16_420649_528011	467608	T T	TGGGACGT others(37): Show TGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	295	0.0034	44	c.809 others(61): Show c.809-3684_809-3683insACGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCGGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467696	A A	AGGGGCGT others(37): Show AGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0058 a0001c0006t0058	a0001c0006t0058g0111 a0001c0006t0058g0111	1	295	0.0034	44	c.809 others(61): Show c.809-3572_809-3571insGTCAGGGAGGAGGTCCTGGGGCGTCAGG GAGGAGGTGCTGGGGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467740	A A	AGGGGCGT others(37): Show AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18942.hp1 HG00558.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0048 a0001c0001t0005 a0001c0001t0048	a0001c0001t0005g0066 a0001c0001t0048g0050 a0001c0001t0005g0066 a0001c0001t0048g0050	2	295	0.0068	44	c.809 others(61): Show c.809-3550_809-3549insGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467922	G G	GTCAGGGA others(37): Show GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0109 a0001c0001t0025g0109	1	295	0.0034	44	c.809 others(61): Show c.809-3330_809-3329insCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468030	G G	GTCAGGGA others(37): Show GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02615.hp1 others(4): Show HG02257.hp1 HG02559.hp2 HG02615.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0036 a0001c0001t0013 a0001c0001t0036	a0001c0001t0013g0026 a0001c0001t0013g0027 a0001c0001t0013g0028 others(4): Show a0001c0001t0013g0026 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0013g0029 a0001c0001t0013g0033 a0001c0001t0013g0035 a0001c0001t0036g0034	7	295	0.0237	44	c.809 others(61): Show c.809-3242_809-3241insCAGGGAGGAGGTGCTGGGGCCTCAGGGA GGAGGTGCAGGGGCGT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468176	A A	AGGGAAGT others(37): Show AGGGAAGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02683.hp2 HG03130.hp2 HG00099.hp2 HG02683.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0001t0001 a0001c0001t0010 a0001c0001t0013	a0001c0001t0001g0193 a0001c0001t0010g0194 a0001c0001t0013g0026 a0001c0001t0001g0193 a0001c0001t0010g0194 a0001c0001t0013g0026	3	295	0.0102	44	c.809 others(61): Show c.809-3116_809-3115insAAGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCTGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	522044	T T	TGTGTGCG others(37): Show TGTGTGCGCGCGCGTGTGTGTGCGCGCGCGTGTGTGCGTGCGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0032 a0001c0006t0032	a0001c0006t0032g0270 a0001c0006t0032g0270	1	295	0.0034	44	c.12 others(55): Show c.1205_*1206insGTGTGCGCGCGCGTGTGTGTGCGCGCGCGTGTGT GCGTGCGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	14/14	1206		chr16	TogoVar
RAB27A_chr15_55197966_55294813	55241612	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	320	0.0031	44	c.-22 others(61): Show c.-22-6657_-22-6656insCACATATATATATATATATATATATATA TATATATATATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55241612	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0289 a0001c0001t0003g0290	2	320	0.0063	44	c.-22 others(61): Show c.-22-6657_-22-6656insCACACATATATATATATATATATATATA TATATATATATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55241624	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	320	0.0031	44	c.-22 others(61): Show c.-22-6669_-22-6668insCACACATATATATATATATATATATATA TATATATATATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB2A_chr8_60511987_60628644	60605832	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0288 a0001c0001t0005g0288	1	358	0.0028	44	c.475 others(63): Show c.475-12741_475-12740insTATATATATATATATATATATATATA TATATATATATATATATA	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB31_chr18_9703301_9867551	9716910	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG03471.hp1 others(2): Show HG02145.hp2 HG02257.hp1 HG03471.hp1 NA18982.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0037 a0001c0001t0001 a0001c0001t0018 a0001c0001t0037	a0001c0001t0001g0178 a0001c0001t0001g0189 a0001c0001t0001g0190 others(2): Show a0001c0001t0001g0178 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0018g0191 a0001c0001t0037g0196	5	322	0.0155	44	c.39+ others(59): Show c.39+8489_39+8490insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB40B_chr17_82649973_82703698	82658480	C C	CCTGGGCC others(37): Show CCTGGGCCTACCCTTGCTCGGCCGCCAGAGCCGGTCCATCCCATG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	338	0.0030	44	c.532 others(54): Show c.532_565+10dupCATGGGATGGACCGGCTCTGGCGGCCGAGCAAGGG TAGGCCCAG	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	5/5			chr17	TogoVar
RAB44_chr6_36692826_36738184	36715102	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp1 HG02622.hp2 HG02965.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0006 a0002c0005 a0003c0006	a0002c0005t0002 a0003c0006t0004 a0002c0005t0002 a0003c0006t0004	a0002c0005t0002g0054 a0003c0006t0004g0059 a0002c0005t0002g0054 a0003c0006t0004g0059	2	428	0.0047	44	c.320 others(59): Show c.320-361_320-360insATATATATATATATATATATATATATATAT ATATATATATATAT	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(37): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0010 a0001c0001t0076g0010	1	382	0.0026	44	c.37 others(55): Show c.3792_*3793insATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACACACA others(37): Show TACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	398	0.0025	44	c.219 others(59): Show c.219-407_219-406insACACACACACACACACACACACACACACAC ACACACACACACAC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(37): Show TACATACATACATACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	398	0.0025	44	c.219 others(59): Show c.219-442_219-441insTACATACATACACACACACACACACACACA CACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(37): Show TACATACATACATATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18949.hp1 NA19056.hp2 HG01433.hp1 NA18949.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	3	398	0.0075	44	c.219 others(59): Show c.219-442_219-441insTACATACATATACACACACACACACACACA CACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(37): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01256.hp2 HG02602.hp2 others(10): Show HG00140.hp1 HG01256.hp2 HG02602.hp2 HG02895.hp2 HG02922.hp2 HG03688.hp1 NA18941.hp1 NA18956.hp1 NA18965.hp2 NA18991.hp1 NA19000.hp2 NA19089.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0076 others(10): Show a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0227 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0296	13	354	0.0367	44	c.496 others(61): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGACTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	354	0.0028	44	c.71- others(59): Show c.71-8482_71-8481insTTATATATATATATATATATATATATATAT ATATATATATATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RABEP1_chr17_5277284_5391340	5282090	C C	CCTCCCGC others(37): Show CCTCCCGCCGCGCTCCCGCCGCGCTCCCGCCGCGCTCCCGCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00733.hp2 HG01496.hp1 others(3): Show HG00408.hp1 HG00733.hp2 HG01496.hp1 HG02071.hp1 NA18989.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0028 a0001c0003t0014 a0001c0001t0001 a0001c0001t0028 a0001c0003t0014	a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0063 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0028g0034 a0001c0003t0014g0005	6	352	0.0171	44	c.-39 others(53): Show c.-397_-396insCTCCCGCCGCGCTCCCGCCGCGCTCCCGCCGCGCTC CCGCCGCG	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding		193		chr17	TogoVar
RABEP1_chr17_5277284_5391340	5323839	A A	AATATATA others(37): Show AATATATATATATATCTAGGAATATATATATATATCTAGGAATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02976.hp2 HG03669.hp1 others(1): Show HG00642.hp2 HG02976.hp2 HG03669.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0305 others(1): Show a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0034g0301	4	352	0.0114	44	c.164 others(61): Show c.164-8068_164-8067insATATATATATATATATCTAGGAATATAT ATATATATCTAGGAAT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABGAP1L_chr1_174154520_175000308	174327956	A A	AATATATA others(37): Show AATATATATATATATATATATATATACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	272	0.0037	44	c.146 others(65): Show c.1465+22852_1465+22853insTACACACATATATATATATATATA TATATATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATACACATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	272	0.0037	44	c.171 others(65): Show c.1710+21891_1710+21892insTATATATATATATATATATATATA TATATATATACACATATACA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550983	C C	CATATATA others(37): Show CATATATATATACATATGTATATATACATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0150 a0001c0001t0013g0150	1	272	0.0037	44	c.171 others(65): Show c.1711-86381_1711-86380insCATATGTATATATACATATATATA TACATATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550983	C C	CATATATA others(37): Show CATATATATATACATATGTATATATACATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG06807.hp2 HG03209.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0026 a0001c0001t0005 a0002c0003t0026	a0001c0001t0005g0143 a0002c0003t0026g0076 a0001c0001t0005g0143 a0002c0003t0026g0076	2	272	0.0074	44	c.171 others(65): Show c.1711-86381_1711-86380insCATATGTATATATACATATATATA TATACATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833449	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG03225.hp2 others(2): Show HG02257.hp1 HG02559.hp1 HG03225.hp2 NA18967.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0019 a0001c0001t0002 a0001c0001t0012 a0001c0001t0019	a0001c0001t0002g0099 a0001c0001t0002g0153 a0001c0001t0012g0094 others(2): Show a0001c0001t0002g0099 a0001c0001t0002g0153 a0001c0001t0012g0094 a0001c0001t0012g0101 a0001c0001t0019g0268	5	272	0.0184	44	c.234 others(65): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174937619	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	272	0.0037	44	c.234 others(65): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT ATATATATATATATATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174937626	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0271 a0001c0001t0029g0271	1	272	0.0037	44	c.234 others(65): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT ATATATATATGTATATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar

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