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
PUS1_chr12_131924276_131950896	131926422	C C	CCAGACGG others(33): Show CCAGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG02809.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0027 a0001c0001t0006 a0001c0001t0027	a0001c0001t0006g0028 a0001c0001t0027g0028 a0001c0001t0006g0028 a0001c0001t0027g0028	2	382	0.0052	40	c.-33 others(51): Show c.-3301_-3300insCAGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTC ACTTCT	PUS1	ENSG00000177192.14	transcript	ENST00000376649.8	protein_coding		2853		chr12	TogoVar
PUS7_chr7_105451503_105527271	105456102	T T	TATATATA others(33): Show TATATATATATATATATATATATATATAAATATAAATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	350	0.0029	40	c.16 others(51): Show c.1687_*1688insTTATATTTATATTTATATATATATATATATATAT ATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		400		chr7	TogoVar
PVR_chr19_44638910_44671162	44645128	A A	AATATATA others(33): Show AATATATAATAATATATATTATAATATATAATATGTATATT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03130.hp1 HG03195.hp1 others(5): Show HG01123.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0057 a0001c0001t0058 others(5): Show a0001c0001t0008 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0068 a0001c0001t0069 a0001c0001t0076 a0001c0001t0103	a0001c0001t0008g0227 a0001c0001t0057g0228 a0001c0001t0058g0233 others(5): Show a0001c0001t0008g0227 a0001c0001t0057g0228 a0001c0001t0058g0233 a0001c0001t0059g0229 a0001c0001t0068g0231 a0001c0001t0069g0230 a0001c0001t0076g0232 a0001c0001t0103g0223	8	412	0.0194	40	c.79+ others(53): Show c.79+959_79+960insAATAATATATATTATAATATATAATATGTATA TTATATAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44645128	A A	AATATATT others(33): Show AATATATTATATATATTATTATAATATATAATATGTATATT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0027 a0001c0004t0026 a0001c0004t0027	a0001c0004t0026g0172 a0001c0004t0027g0173 a0001c0004t0026g0172 a0001c0004t0027g0173	2	412	0.0049	40	c.79+ others(55): Show c.79+1031_79+1070dupATTATATATTATATATATTATTATAATATA TAATATGTAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44645227	T T	TATAATAT others(33): Show TATAATATATAATATGTATATTATATATTATATATATTATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG03139.hp2 others(2): Show HG02109.hp2 HG02717.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0092 a0001c0001t0093 others(1): Show a0001c0001t0040 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094	a0001c0001t0040g0152 a0001c0001t0040g0153 a0001c0001t0092g0155 others(2): Show a0001c0001t0040g0152 a0001c0001t0040g0153 a0001c0001t0092g0155 a0001c0001t0093g0224 a0001c0001t0094g0154	5	412	0.0121	40	c.79+ others(55): Show c.79+1070_79+1071insATTATATATTATATATATTATAATAATATA TAATATGTAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44645232	T T	TATATAAT others(33): Show TATATAATATGTATATTATATATTATATATATTATAATAAA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA19001.hp2 NA18965.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0016 a0001c0001t0001g0036	2	412	0.0049	40	c.79+ others(55): Show c.79+1070_79+1071insATTATATATTATATATATTATAATAAAATA TAATATGTAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PWWP2A_chr5_160086339_160124450	160109784	T T	TATATATA others(33): Show TATATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03239.hp2 HG02602.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0108 a0001c0001t0001g0109	2	384	0.0052	40	c.584 others(57): Show c.584+9020_584+9021insTATTATATTATTTTATATATATATATAT ATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109786	T T	TATATATA others(33): Show TATATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18951.hp1 NA18612.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0088 a0001c0001t0007g0097 a0001c0001t0007g0088 a0001c0001t0007g0097	2	384	0.0052	40	c.584 others(57): Show c.584+9018_584+9019insTATTATATTATTTTATATATATATATAT ATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109788	T T	TATATATA others(33): Show TATATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	384	0.0026	40	c.584 others(57): Show c.584+9016_584+9017insTATTATATTATTTTATATATATATATAT ATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109790	T T	TATATATA others(33): Show TATATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0054 a0001c0001t0039g0054	1	384	0.0026	40	c.584 others(57): Show c.584+9014_584+9015insTATTATATTATTTTATATATATATATAT ATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PXDNL_chr8_51314577_51814445	51334123	G G	GATTGATA others(33): Show GATTGATATGAAATCAATCATATCAGTTTCAAAACTGAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01109.hp1 others(29): Show HG00438.hp2 HG00673.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01496.hp1 HG01517.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG03098.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 NA18906.hp1 NA18947.hp2 NA18959.hp2 NA18966.hp2 NA18984.hp2 NA19003.hp2 NA19043.hp2 NA19056.hp2 NA19240.hp2 NA20129.hp1	a0002 a0005 a0007 others(9): Show a0002 a0005 a0007 a0008 a0009 a0012 a0017 a0026 a0027 a0031 a0033 a0034	a0002c0002 a0002c0021 a0002c0037 others(12): Show a0002c0002 a0002c0021 a0002c0037 a0005c0018 a0005c0028 a0007c0007 a0008c0008 a0009c0045 a0012c0013 a0017c0016 a0026c0043 a0027c0031 a0031c0020 a0033c0036 a0034c0019	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(15): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0021t0002 a0002c0037t0001 a0005c0018t0001 a0005c0028t0001 a0007c0007t0001 a0007c0007t0002 a0008c0008t0001 a0009c0045t0001 a0012c0013t0001 a0017c0016t0001 a0026c0043t0003 a0027c0031t0002 a0031c0020t0001 a0033c0036t0001 a0034c0019t0001	a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0039 others(29): Show a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0053 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0002g0104 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0117 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0021t0002g0092 a0002c0037t0001g0087 a0005c0018t0001g0024 a0005c0018t0001g0085 a0005c0028t0001g0083 a0007c0007t0001g0029 a0007c0007t0001g0031 a0007c0007t0002g0099 a0008c0008t0001g0059 a0009c0045t0001g0052 a0012c0013t0001g0066 a0017c0016t0001g0062 a0026c0043t0003g0005 a0027c0031t0002g0121 a0031c0020t0001g0084 a0033c0036t0001g0091 a0034c0019t0001g0090	32	122	0.2623	40	c.414 others(59): Show c.4146+5500_4146+5501insATTTCAGTTTTGAAACTGATATGATT GATTTCATATCAAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	21/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1658067	T T	TCCCTCCC others(33): Show TCCCTCCCCCTCTCTCCCTCCCCCTCTCTCTCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0017 a0001c0012t0017	a0001c0012t0017g0167 a0001c0012t0017g0167	1	322	0.0031	40	c.183 others(59): Show c.1837+2813_1837+2814insGGGGAGGGAGAGAGAGAGGGGGAGGG AGAGAGGGGGAGGG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	14/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1658067	T T	TCTCCCCC others(33): Show TCTCCCCCTCTCTCTCCCTCCCCCTCTCTCTCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0025 a0001c0044t0025	a0001c0044t0025g0210 a0001c0044t0025g0210	1	322	0.0031	40	c.183 others(59): Show c.1837+2813_1837+2814insGGGGAGGGAGAGAGAGAGGGGGAGGG AGAGAGAGGGGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	14/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720645	C C	CTCTTTCT others(33): Show CTCTTTCTCTCTCTCTGCATCTCTTTCTCTCTCTCTGCATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02896.hp2 NA18522.hp2 HG01891.hp1 HG02896.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0010 a0001c0012t0017 a0001c0001t0010 a0001c0012t0017	a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0012t0017g0167 a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0012t0017g0167	3	322	0.0093	40	c.200 others(59): Show c.200+23610_200+23611insCATGCAGAGAGAGAGAAAGAGATGCA GAGAGAGAGAAAGA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXYLP1_chr3_141226825_141299924	141263397	G G	GTAAAGAC others(33): Show GTAAAGACAATTAGCATATAGCAAGTCGATTAGCACCATTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0212 a0001c0003t0003g0212	1	384	0.0026	40	c.79+ others(55): Show c.79+3143_79+3144insTAAAGACAATTAGCATATAGCAAGTCGATT AGCACCATTT	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	2/5			chr3	TogoVar
PYGB_chr20_25243085_25303012	25247993	T T	TCCCGAGG others(33): Show TCCCGAGGCCCCGCCCCGCCCCCCGAGGCCCCGCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01361.hp1 others(12): Show HG01109.hp2 HG01167.hp1 HG01361.hp1 HG01891.hp2 HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02976.hp1 HG03209.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0042 a0001c0001t0001g0283 a0001c0001t0001g0284 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0003g0020 a0001c0001t0003g0262	15	372	0.0403	40	c.-18 others(49): Show c.-186_-185insCCCGAGGCCCCGCCCCGCCCCCCGAGGCCCCGCCCC GCCC	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding		91		chr20	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0274 a0001c0001t0036g0274	1	412	0.0024	40	c.49+ others(57): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PZP_chr12_9143840_9213395	9185790	A A	ATTTCTTT others(33): Show ATTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02258.hp2 HG02647.hp1 others(2): Show HG01993.hp1 HG02258.hp2 HG02647.hp1 HG03540.hp1 NA19240.hp2	a0001 a0008 a0024 a0001 a0008 a0024	a0001c0021 a0008c0020 a0024c0036 a0001c0021 a0008c0020 a0024c0036	a0001c0021t0001 a0008c0020t0001 a0024c0036t0001 a0001c0021t0001 a0008c0020t0001 a0024c0036t0001	a0001c0021t0001g0123 a0008c0020t0001g0032 a0008c0020t0001g0270 others(1): Show a0001c0021t0001g0123 a0008c0020t0001g0032 a0008c0020t0001g0270 a0024c0036t0001g0231	5	334	0.0150	40	c.154 others(59): Show c.1547-3674_1547-3673insAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAA	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	13/35			chr12	TogoVar
QPCT_chr2_37339630_37378322	37347231	C C	CATATATA others(33): Show CATATATATAACATATATATATATATATAACATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03834.hp1 HG03942.hp2 HG00642.hp1 HG03834.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103	3	442	0.0068	40	c.120 others(57): Show c.120+2389_120+2390insACATATATATATATATATAACATATATA TATATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QRFPR_chr4_121323642_121386018	121365665	T T	TATATATA others(33): Show TATATATATTATATATATATTTTATATATTATATATTTATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG03209.hp2 HG02622.hp1 HG02630.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0215 a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0003g0215 a0001c0001t0007g0180 a0001c0001t0007g0182	3	384	0.0078	40	c.340 others(59): Show c.340+14642_340+14643insTATAAATATATAATATATAAAATATA TATATAATATATAT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
QRFP_chr9_130887707_130901812	130899032	T T	TCCCCACC others(33): Show TCCCCACCTCTGCCCCTCCCTCCTCTGCCCCCACCTCTACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	40	c.-27 others(51): Show c.-2742_-2741insGGTAGAGGTGGGGGCAGAGGAGGGAGGGGCAGAG GTGGGG	QRFP	ENSG00000188710.3	transcript	ENST00000623824.2	protein_coding		2221		chr9	TogoVar
RAB11FIP3_chr16_420649_528011	522038	C C	CGTGTGTG others(33): Show CGTGTGTGTGCGCGCGCGTGTGTGTGCGCGCATGTGTGCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 NA19043.hp1 NA20300.hp1 HG02257.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0025 a0001c0008t0057 a0001c0001t0025 a0001c0008t0057	a0001c0001t0025g0021 a0001c0001t0025g0109 a0001c0008t0057g0113 a0001c0001t0025g0021 a0001c0001t0025g0109 a0001c0008t0057g0113	3	295	0.0102	40	c.12 others(51): Show c.1200_*1201insTGTGTGTGCGCGCGCGTGTGTGTGCGCGCATGTG TGCGTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	14/14	1201	INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	522044	T T	TGTGCGCG others(33): Show TGTGCGCGCGCGTGTGTGTGCGCGCATGTGTGCGTGCGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0050 a0001c0001t0048g0050	1	295	0.0034	40	c.12 others(51): Show c.1205_*1206insGTGCGCGCGCGTGTGTGTGCGCGCATGTGTGCGT GCGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	14/14	1206		chr16	TogoVar
RAB11FIP4_chr17_31386675_31543211	31450817	T T	TGTGGCGC others(33): Show TGTGGCGCACCCTGTGGCGCACCCTGTGGCGCACCCTGTGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	310	0.0032	40	c.336 others(59): Show c.336+16695_336+16696insGTGGCGCACCCTGTGGCGCACCCTGT GGCGCACCCTGTGG	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14			chr17	TogoVar
RAB11FIP4_chr17_31386675_31543211	31494292	C C	CGAGGATG others(33): Show CGAGGATGAGGCTAGTACCTCCCTCACAGGGTTCGTGGTAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG01346.hp2 others(10): Show HG01070.hp2 HG01109.hp1 HG01346.hp2 HG01884.hp2 HG01978.hp1 HG02055.hp1 HG02257.hp2 HG02280.hp1 HG03471.hp1 HG04199.hp2 NA18966.hp1 NA19003.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0001c0019	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0004t0006 a0001c0004t0043 a0001c0007t0007 a0001c0007t0012 a0001c0019t0002	a0001c0001t0001g0041 a0001c0001t0010g0042 a0001c0001t0010g0161 others(10): Show a0001c0001t0001g0041 a0001c0001t0010g0042 a0001c0001t0010g0161 a0001c0001t0010g0304 a0001c0001t0012g0015 a0001c0004t0006g0064 a0001c0004t0006g0231 a0001c0004t0006g0246 a0001c0004t0006g0247 a0001c0004t0043g0248 a0001c0007t0007g0277 a0001c0007t0012g0264 a0001c0019t0002g0069	13	310	0.0419	40	c.337 others(59): Show c.337-23317_337-23278dupAGGATGAGGCTAGTACCTCCCTCACA GGGTTCGTGGTAAG	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0207 a0001c0001t0004g0207	1	410	0.0024	40	c.84 others(51): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding		4260		chr10	TogoVar
RAB1A_chr2_65081854_65135106	65103310	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	340	0.0029	40	c.96+ others(55): Show c.96+1423_96+1424insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB22A_chr20_58304715_58372507	58309453	G G	GCAGGGGC others(33): Show GCAGGGGCGGGGCCCTGCAGACAGGGGCGGGGCCCTGCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG01081.hp2 others(44): Show HG00408.hp1 HG00621.hp2 HG01081.hp2 HG01109.hp1 HG01891.hp2 HG01928.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp2 HG02886.hp1 HG03139.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18953.hp1 NA18962.hp1 NA18964.hp2 NA18972.hp2 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA19000.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19074.hp2 NA19077.hp2 NA19087.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0034 a0001c0001t0036 a0001c0001t0053 a0001c0001t0056 a0001c0001t0059 a0001c0001t0067 a0001c0001t0072 a0001c0001t0075 a0001c0001t0078 a0001c0001t0082 a0001c0001t0085 a0001c0001t0095 a0001c0001t0098 a0001c0001t0106 a0001c0001t0114 a0001c0001t0118	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0035 others(43): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0254 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0290 a0001c0001t0001g0330 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0003g0238 a0001c0001t0003g0266 a0001c0001t0003g0284 a0001c0001t0003g0303 a0001c0001t0003g0327 a0001c0001t0005g0019 a0001c0001t0005g0057 a0001c0001t0005g0072 a0001c0001t0005g0092 a0001c0001t0005g0157 a0001c0001t0008g0022 a0001c0001t0008g0160 a0001c0001t0010g0227 a0001c0001t0011g0167 a0001c0001t0016g0205 a0001c0001t0017g0001 a0001c0001t0023g0221 a0001c0001t0023g0222 a0001c0001t0023g0223 a0001c0001t0024g0034 a0001c0001t0034g0172 a0001c0001t0036g0244 a0001c0001t0053g0300 a0001c0001t0056g0288 a0001c0001t0059g0245 a0001c0001t0067g0010 a0001c0001t0072g0175 a0001c0001t0075g0215 a0001c0001t0078g0118 a0001c0001t0082g0056 a0001c0001t0085g0062 a0001c0001t0095g0026 a0001c0001t0098g0165 a0001c0001t0106g0107 a0001c0001t0114g0187 a0001c0001t0118g0289	47	394	0.1193	40	c.-52 others(49): Show c.-524_-523insCAGGGGCGGGGCCCTGCAGACAGGGGCGGGGCCCTG CAGA	RAB22A	ENSG00000124209.4	transcript	ENST00000244040.4	protein_coding		261		chr20	TogoVar
RAB27A_chr15_55197966_55294813	55241612	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 NA18522.hp2 HG02486.hp2 HG02647.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0293 a0001c0001t0003g0297 a0001c0001t0012g0302 a0001c0001t0003g0293 a0001c0001t0003g0297 a0001c0001t0012g0302	3	320	0.0094	40	c.-22 others(57): Show c.-22-6657_-22-6656insCACATATATATATATATATATATATATA TATATATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55241612	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG01109.hp1 HG02280.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0003 a0001c0001t0003 a0002c0005t0003	a0001c0001t0003g0291 a0002c0005t0003g0010 a0001c0001t0003g0291 a0002c0005t0003g0010	2	320	0.0063	40	c.-22 others(57): Show c.-22-6657_-22-6656insCACACATATATATATATATATATATATA TATATATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27B_chr18_54823477_54900516	54850333	G G	GACATATA others(33): Show GACATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	334	0.0030	40	c.-20 others(59): Show c.-20+21634_-20+21635insCATATATATATATATATATATATATA TATATATATATATA	RAB27B	ENSG00000041353.10	transcript	ENST00000262094.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB2A_chr8_60511987_60628644	60605832	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0299 a0001c0001t0005g0299	1	358	0.0028	40	c.475 others(59): Show c.475-12741_475-12740insTATATATATATATATATATATATATA TATATATATATATA	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(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp2 HG03516.hp1 others(3): Show HG01256.hp1 HG01261.hp2 HG03516.hp1 HG03654.hp1 NA18951.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0001t0049	a0001c0001t0001g0197 a0001c0001t0002g0162 a0001c0001t0009g0003 others(3): Show a0001c0001t0001g0197 a0001c0001t0002g0162 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0013g0198 a0001c0001t0049g0175	6	322	0.0186	40	c.39+ others(55): Show c.39+8489_39+8490insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB37_chr17_74732256_74752335	74735018	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	1	432	0.0023	40	c.-22 others(51): Show c.-2255_-2254insAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAA GAAAGA	RAB37	ENSG00000172794.20	transcript	ENST00000392613.10	protein_coding		2237		chr17	TogoVar
RAB37_chr17_74732256_74752335	74735018	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	432	0.0023	40	c.-22 others(51): Show c.-2255_-2254insAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAA GAAAGA	RAB37	ENSG00000172794.20	transcript	ENST00000392613.10	protein_coding		2237		chr17	TogoVar
RAB37_chr17_74732256_74752335	74735018	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0002 a0001c0001t0024g0002	1	432	0.0023	40	c.-22 others(51): Show c.-2255_-2254insAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAA GAAAGA	RAB37	ENSG00000172794.20	transcript	ENST00000392613.10	protein_coding		2237		chr17	TogoVar
RAB37_chr17_74732256_74752335	74735018	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0098 a0001c0001t0005g0098	1	432	0.0023	40	c.-22 others(51): Show c.-2255_-2254insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAA GAAAGA	RAB37	ENSG00000172794.20	transcript	ENST00000392613.10	protein_coding		2237		chr17	TogoVar
RAB3C_chr5_58578075_58864394	58729753	A A	ATATATAT others(33): Show ATATATATACACATATACATATACTATATGTATATTTATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18959.hp1 NA18961.hp2 others(2): Show HG00323.hp2 NA18959.hp1 NA18961.hp2 NA18989.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0022 a0001c0001t0077	a0001c0001t0001g0088 a0001c0001t0005g0031 a0001c0001t0005g0148 others(2): Show a0001c0001t0001g0088 a0001c0001t0005g0031 a0001c0001t0005g0148 a0001c0001t0022g0087 a0001c0001t0077g0215	5	220	0.0227	40	c.371 others(57): Show c.371+3762_371+3801dupCACATATACATATACTATATGTATATTT ATATTATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0120 a0001c0001t0023g0120	1	220	0.0046	40	c.497 others(57): Show c.497-5551_497-5550insATATATATATATATATATATATATATAT GTGTGTGTGTGT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3GAP1_chr2_135047292_135175710	135170855	A A	AACCCCAC others(33): Show AACCCCACAAAAACTTATAAAACAAATTACCCCCTCCCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0034	1	280	0.0036	40	c.20 others(51): Show c.2074_*2075insACCCCACAAAAACTTATAAAACAAATTACCCCCT CCCATC	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding		146		chr2	TogoVar
RAB40C_chr16_585066_634268	599653	C C	CGCAAGGT others(33): Show CGCAAGGTTTTGTTACCTCGTGGCATCAGTCAGCGTGGATT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	350	0.0029	40	c.142 others(57): Show c.142+9220_142+9221insGCAAGGTTTTGTTACCTCGTGGCATCAG TCAGCGTGGATT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5			chr16	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(33): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0104 a0001c0001t0084g0104	1	382	0.0026	40	c.37 others(51): Show c.3792_*3793insATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTT	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(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18974.hp2 NA19082.hp1 others(2): Show HG02965.hp2 NA18974.hp2 NA19082.hp1 NA19087.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0246 a0001c0001t0001g0278 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0246 a0001c0001t0001g0278 a0001c0001t0002g0119	5	398	0.0126	40	c.219 others(55): Show c.219-407_219-406insACACACACACACACACACACACACACACAC ACACACACAC	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(33): Show TACATACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	398	0.0025	40	c.219 others(55): Show c.219-442_219-441insTACACACACACACACACACACACACACACA CACACACACA	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(33): Show TACATACATACATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01361.hp1 HG02165.hp1 others(4): Show HG01099.hp2 HG01361.hp1 HG02165.hp1 HG02735.hp1 HG02895.hp1 HG03834.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0035 a0001c0001t0001g0078 a0001c0001t0001g0101 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0078 a0001c0001t0001g0101 a0001c0001t0001g0307 a0001c0001t0003g0196 a0001c0001t0005g0064	7	398	0.0176	40	c.219 others(55): Show c.219-442_219-441insTACATACATATACACACACACACACACACA CACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAA others(33): Show AAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	354	0.0028	40	c.71- others(55): Show c.71-8462_71-8461insATATATATATATATATATATATATATATAT ATATTTTTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	354	0.0028	40	c.71- others(55): Show c.71-8462_71-8461insATATATATATATATATATATATATATATAT ATATATATTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	354	0.0028	40	c.71- others(55): Show c.71-8482_71-8481insTTATATATATATATATATATATATATATAT ATATATATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18967.hp1 NA18747.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0245 a0001c0001t0001g0165 a0001c0001t0001g0245	2	314	0.0064	40	c.53+ others(53): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABGAP1L_chr1_174154520_175000308	174327990	T T	TATATATA others(33): Show TATATATATATATATACATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0186 a0001c0001t0024g0186	1	272	0.0037	40	c.146 others(61): Show c.1465+22878_1465+22879insCATATATATATATATATATATACA CATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 6641 hits)