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
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	216	0.0046	41	c.-51 others(58): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	336	0.0030	41	c.665 others(60): Show c.6651+1236_6651+1237insTATATATATATATATATATATATATA TATATATATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34			chr1	TogoVar
PRRC2C_chr1_171480530_171598511	171569593	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	336	0.0030	41	c.665 others(60): Show c.6651+1254_6651+1255insATATATATATATATATATATATATAT ATATATATATATATG	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34			chr1	TogoVar
PRSS50_chr3_46707117_46722869	46715154	G G	GGCCTTGC others(34): Show GGCCTTGCTCAAAGAAGTGTCAGAGACGGTTGATTGAAGGGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	420	0.0024	41	c.470 others(56): Show c.470+340_470+380dupTCCCTTCAATCAACCGTCTCTGACACTTCT TTGAGCAAGGC	PRSS50	ENSG00000283706.2	transcript	ENST00000315170.13	protein_coding	3/5			chr3	TogoVar
PSIP1_chr9_15459066_15515970	15497325	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	300	0.0033	41	c.150 others(58): Show c.150-7202_150-7201insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSKH2_chr8_86042109_86074668	86074158	C C	CTCTGTTT others(34): Show CTCTGTTTTCTTATCTGTGAATTGAAATATTAATAATACTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0261 a0003c0004t0006g0261	1	420	0.0024	41	c.-45 others(52): Show c.-4537_-4536insTTAGTATTATTAATATTTCAATTCACAGATAAGA AAACAGA	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding		4491		chr8	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(34): Show GTTGTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	268	0.0037	41	c.571 others(58): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTGTTTTT TTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(34): Show GTTGTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02965.hp2 HG00639.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0153 a0001c0001t0002g0159	2	268	0.0075	41	c.571 others(58): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTGTTTT TTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(34): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	268	0.0037	41	c.571 others(58): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	412	0.0024	41	c.174 others(58): Show c.174+1096_174+1097insATATATATATATATATATATATATATAT ATATTTTTTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02145.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	412	0.0049	41	c.174 others(58): Show c.174+1096_174+1097insATATATATATATATATATATATATATAT TTTTTTTTTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSPC1_chr13_19697500_19787945	19779895	G G	GTCTGGGA others(34): Show GTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCAGCCGCCCCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0002 a0001c0004t0003g0002	1	258	0.0039	41	c.372 others(58): Show c.372+2490_372+2491insTGGGGCGGCTGGCCGGGCAGAGGCGCCC CTCACCTCCCAGA	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0284 a0001c0002t0001g0284	1	364	0.0028	41	c.905 others(58): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTK2B_chr8_27320552_27464386	27320980	C C	CACCAGGC others(34): Show CACCAGGCATCTCATTGGCATACAAAAGGCTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	328	0.0031	41	c.-47 others(52): Show c.-4739_-4738insACCAGGCATCTCATTGGCATACAAAAGGCTTTTT TTTTTTT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding		4571		chr8	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02965.hp1 HG01255.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0205 a0001c0001t0001g0025 a0001c0001t0001g0205	2	296	0.0068	41	c.-2+ others(58): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATTT TTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03486.hp2 HG01261.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0134 a0001c0001t0002g0133 a0001c0001t0001g0134 a0001c0001t0002g0133	2	296	0.0068	41	c.-2+ others(58): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATAT ATTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTPN23_chr3_47376021_47418435	47417962	T T	TGGGGGAG others(34): Show TGGGGGAGGTGGGCGGGGGTCGGGGGAGGTGGTCGGGTGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	332	0.0030	41	c.47 others(52): Show c.4777_*4778insGGGGGAGGTGGGCGGGGGTCGGGGGAGGTGGTCG GGTGGTG	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4528		chr3	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	370	0.0027	41	c.859 others(58): Show c.859-5436_859-5435insATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	370	0.0027	41	c.859 others(58): Show c.859-5436_859-5435insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	370	0.0027	41	c.859 others(58): Show c.859-5436_859-5435insATATATATATATATATATATATATATTT TTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19084.hp2 HG03239.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0331 a0001c0001t0001g0222 a0001c0001t0001g0331	2	370	0.0054	41	c.859 others(58): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT TTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12870201	A A	AGATTTAT others(34): Show AGATTTATACTGCAGTTAGGTAGCAGATACAGATAGGAATCC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	370	0.0027	41	c.70- others(58): Show c.70-10988_70-10948dupGGATTCCTATCTGTATCTGCTACCTAAC TGCAGTATAAATC	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPRA_chr20_2868481_3043669	2980417	A A	ACTTAGAA others(34): Show ACTTAGAAGATTAAAAAGTAATAGGAAAAAGTCAATAAAGAG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	356	0.0028	41	c.442 others(58): Show c.442+5181_442+5182insAAGATTAAAAAGTAATAGGAAAAAGTCA ATAAAGAGCTTAG	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRD_chr9_8309246_10618002	10504115	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0005 a0001c0017t0002g0005	1	34	0.0294	41	c.-60 others(64): Show c.-600+108282_-600+108283insTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61676471	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	94	0.0106	41	c.86- others(58): Show c.86-72404_86-72403insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRT_chr20_42067756_43194906	42086749	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0035 a0001c0030t0001g0035	1	62	0.0161	41	c.384 others(58): Show c.3847-897_3847-896insATATATATATATATATATATATATATAT ATATATATATATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42086753	A A	AAAAATAT others(34): Show AAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0005 a0002c0004t0002g0005	1	62	0.0161	41	c.384 others(58): Show c.3847-901_3847-900insATATATATATATATATATATATATATAT ATATATATATTTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42086753	A A	AAATATAT others(34): Show AAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0026 a0002c0001t0026	a0002c0001t0026g0012 a0002c0001t0026g0012	1	62	0.0161	41	c.384 others(58): Show c.3847-901_3847-900insATATATATATATATATATATATATATAT ATATATATATATT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42855599	T T	TTTTTGTA others(34): Show TTTTTGTATTTTTAGTAGAGACATGTATTTTTGTATTTTTGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03209.hp1 HG03471.hp1 others(1): Show HG03195.hp2 HG03209.hp1 HG03471.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0001c0018 others(1): Show a0001c0002 a0001c0008 a0001c0018 a0002c0004	a0001c0002t0003 a0001c0008t0005 a0001c0018t0003 others(1): Show a0001c0002t0003 a0001c0008t0005 a0001c0018t0003 a0002c0004t0002	a0001c0002t0003g0040 a0001c0008t0005g0037 a0001c0018t0003g0030 others(1): Show a0001c0002t0003g0040 a0001c0008t0005g0037 a0001c0018t0003g0030 a0002c0004t0002g0005	4	62	0.0645	41	c.214 others(60): Show c.214+30207_214+30208insTCAAAAATACAAAAATACATGTCTCT ACTAAAAATACAAAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	2/30			chr20	TogoVar
PUS1_chr12_131924276_131950896	131934998	G G	GGAGAACA others(34): Show GGAGAACACAAAGAGGGATCCACAAGTTCACTCCTAGTGGGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG04115.hp2 NA18522.hp2 HG02970.hp2 HG04115.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0012 a0001c0001 a0001c0011 a0001c0012	a0001c0001t0015 a0001c0011t0006 a0001c0012t0006 a0001c0001t0015 a0001c0011t0006 a0001c0012t0006	a0001c0001t0015g0073 a0001c0011t0006g0140 a0001c0012t0006g0139 a0001c0001t0015g0073 a0001c0011t0006g0140 a0001c0012t0006g0139	3	382	0.0079	41	c.441 others(58): Show c.441+2852_441+2892dupAGAACACAAAGAGGGATCCACAAGTTCA CTCCTAGTGGGTG	PUS1	ENSG00000177192.14	transcript	ENST00000376649.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0334 a0001c0001t0004g0334	1	350	0.0029	41	c.-32 others(56): Show c.-32-641_-32-640insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PVR_chr19_44638910_44671162	44667663	A A	AATATAAA others(34): Show AATATAAATATATATTATATATATAAATATATAATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02970.hp2 NA19030.hp1 HG01109.hp2 HG02970.hp2 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0104 a0003c0003t0119 a0003c0003t0007 a0003c0003t0104 a0003c0003t0119	a0003c0003t0007g0014 a0003c0003t0104g0014 a0003c0003t0119g0070 a0003c0003t0007g0014 a0003c0003t0104g0014 a0003c0003t0119g0070	3	412	0.0073	41	c.58 others(52): Show c.5852_*5853insATATAAATATATATTATATATATAAATATATAAT ATATATT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1502		chr19	TogoVar
PYGB_chr20_25243085_25303012	25247993	T T	TCCCGAGG others(34): Show TCCCGAGGCCCCGCCCCGCCCTCCCGAGGCCCCGCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 NA19072.hp2 HG03098.hp1 NA19072.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0004c0010t0008 a0001c0001t0001 a0004c0010t0008	a0001c0001t0001g0177 a0004c0010t0008g0252 a0001c0001t0001g0177 a0004c0010t0008g0252	2	372	0.0054	41	c.-18 others(50): Show c.-186_-185insCCCGAGGCCCCGCCCCGCCCTCCCGAGGCCCCGCCC CGCCC	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding		91		chr20	TogoVar
PYGB_chr20_25243085_25303012	25248020	G G	GCCCCGCC others(34): Show GCCCCGCCCCGCCCCCCGAGGCCCCGCCCCGCCCCCCGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00597.hp2 others(44): Show HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG01256.hp2 HG01496.hp2 HG01943.hp2 HG02004.hp1 HG02071.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp2 HG02300.hp2 HG03490.hp2 HG03834.hp2 HG06807.hp1 NA18612.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA19005.hp1 NA19081.hp2 NA19082.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0001 a0002c0003t0001 a0002c0003t0014 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0014 a0003c0005t0001	a0001c0001t0001g0033 a0001c0001t0001g0144 a0001c0001t0001g0150 others(40): Show a0001c0001t0001g0033 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0002c0003t0001g0015 a0002c0003t0001g0019 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0001g0238 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0245 a0002c0003t0014g0015 a0003c0005t0001g0014	47	372	0.1263	41	c.-15 others(50): Show c.-159_-158insCCCCGCCCCGCCCCCCGAGGCCCCGCCCCGCCCCCC GAGGC	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding		64		chr20	TogoVar
PYM1_chr12_55896413_55932894	55926829	G G	GTGTTGTG others(34): Show GTGTTGTGTTTATGATGGTTGTTTTTGGGTTTTTGGTATGCC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	344	0.0029	41	c.37+ others(54): Show c.37+895_37+896insGGCATACCAAAAACCCAAAAACAACCATCATA AACACAACA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
QPCT_chr2_37339630_37378322	37347231	C C	CATATATA others(34): Show CATATATATAACATATATATATAACATATATATAACATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	442	0.0023	41	c.120 others(58): Show c.120+2389_120+2390insACATATATATATAACATATATATAACAT ATATATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QRFPR_chr4_121323642_121386018	121365613	T T	TATATATA others(34): Show TATATATATAATATATATAATATATAATATATATAATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0260 a0001c0003t0003g0260	1	384	0.0026	41	c.340 others(60): Show c.340+14694_340+14695insTATATATTATATATATTATATATTAT ATATATTATATATAT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
RAB11FIP3_chr16_420649_528011	494799	C C	CTGCAGAG others(34): Show CTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0057 a0001c0008t0057	a0001c0008t0057g0113 a0001c0008t0057g0113	1	295	0.0034	41	c.126 others(60): Show c.1266-1998_1266-1997insGGGGAGGTCGAGGTTGCAGAGGTGGG AGGATCACATGAGCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP4_chr17_31386675_31543211	31505627	T T	TTATTATA others(34): Show TTATTATATATTATATATAATAATAATTATAATATATAATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00642.hp1 others(18): Show HG00099.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01106.hp2 HG01168.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01993.hp1 HG02004.hp2 HG02148.hp1 HG02698.hp2 HG03490.hp1 NA18612.hp2 NA19082.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 a0001c0001t0035 a0001c0001t0051 a0001c0002t0004 a0001c0002t0009 a0001c0003t0006 a0001c0003t0023 a0001c0003t0045 a0001c0003t0061 a0001c0003t0062 a0001c0003t0063	a0001c0001t0001g0107 a0001c0001t0002g0146 a0001c0001t0028g0087 others(18): Show a0001c0001t0001g0107 a0001c0001t0002g0146 a0001c0001t0028g0087 a0001c0001t0035g0244 a0001c0001t0051g0126 a0001c0002t0004g0073 a0001c0002t0009g0115 a0001c0003t0006g0066 a0001c0003t0006g0090 a0001c0003t0006g0128 a0001c0003t0006g0137 a0001c0003t0006g0138 a0001c0003t0006g0145 a0001c0003t0006g0216 a0001c0003t0006g0221 a0001c0003t0023g0140 a0001c0003t0023g0212 a0001c0003t0045g0285 a0001c0003t0061g0150 a0001c0003t0062g0067 a0001c0003t0063g0068	21	310	0.0677	41	c.337 others(60): Show c.337-12021_337-12020insTATATATTATATATAATAATAATTAT AATATATAATAATAT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB1A_chr2_65081854_65135106	65103299	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	340	0.0029	41	c.96+ others(56): Show c.96+1434_96+1435insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65103310	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18973.hp2 NA18747.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0064 a0001c0001t0001g0045 a0001c0001t0001g0064	2	340	0.0059	41	c.96+ others(56): Show c.96+1423_96+1424insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB31_chr18_9703301_9867551	9746469	T T	TAAAGAAC others(34): Show TAAAGAACAAAGTTGCAAGAGGCCCCAAATAGCCAAAACAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG01123.hp2 others(30): Show HG00323.hp2 HG01074.hp2 HG01123.hp2 HG01243.hp1 HG01258.hp2 HG01261.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02080.hp1 HG02135.hp2 HG02300.hp2 HG02523.hp2 HG02683.hp2 NA18612.hp2 NA18945.hp1 NA18949.hp1 NA18952.hp1 NA18963.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18999.hp1 NA19057.hp2 NA19081.hp1 NA19083.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0027	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(30): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0293 a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0282 a0001c0001t0003g0029 a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0217 a0001c0001t0004g0043 a0001c0001t0004g0131 a0001c0001t0004g0208 a0001c0001t0006g0049 a0001c0001t0010g0248 a0001c0001t0027g0209	33	322	0.1025	41	c.40- others(58): Show c.40-28809_40-28808insAAAGAACAAAGTTGCAAGAGGCCCCAAA TAGCCAAAACAAA	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	1/6			chr18	TogoVar
RAB40C_chr16_585066_634268	599612	A A	AGCAAGGT others(34): Show AGCAAGGTTTTGTTCCCTTGTGGCATCAGTCAGCGTGGATTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0159 a0001c0001t0007g0159	1	350	0.0029	41	c.142 others(58): Show c.142+9192_142+9193insCCCTTGTGGCATCAGTCAGCGTGGATTT GCAAGGTTTTGTT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	599654	A A	AGCAAGGT others(34): Show AGCAAGGTTTTGTTCCCTCGTGGCATCAGTCAGCGTGGATTC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19054.hp2 NA19091.hp2 NA18981.hp2 NA19054.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0309 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0309	3	350	0.0086	41	c.142 others(58): Show c.142+9238_142+9239insCGTGGCATCAGTCAGCGTGGATTCGCAA GGTTTTGTTCCCT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	599668	C C	CCCTCGTG others(34): Show CCCTCGTGGCATCAGTCAGCGTGGATTCGCAAGGTTTTGTTA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	350	0.0029	41	c.142 others(58): Show c.142+9238_142+9239insCGTGGCATCAGTCAGCGTGGATTCGCAA GGTTTTGTTACCT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	599672	T T	TGTGGCAT others(34): Show TGTGGCATCAGTCAGCGTGGATTCGCAAGGTTTTGTTACCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00621.hp2 others(44): Show HG00099.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02165.hp1 HG02280.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp1 NA18747.hp1 NA18943.hp1 NA18945.hp2 NA18954.hp2 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18988.hp2 NA18994.hp1 NA18997.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19083.hp1 NA19085.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0002c0002t0024	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0027 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0324 a0001c0001t0002g0069 a0001c0001t0002g0111 a0001c0001t0012g0154 a0001c0001t0014g0076 a0001c0001t0014g0120 a0001c0001t0018g0091 a0002c0002t0024g0234	47	350	0.1343	41	c.142 others(58): Show c.142+9275_142+9276insACCTCGTGGCATCAGTCAGCGTGGATTC GCAAGGTTTTGTT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	599672	T T	TGTGGCAT others(34): Show TGTGGCATCAGTCAGCGTGGATTTGCAAGGTTTTGTTACCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02258.hp1 others(11): Show HG01884.hp2 HG02257.hp2 HG02258.hp1 HG02572.hp2 HG02622.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(6): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0001t0028 a0001c0001t0031 a0001c0001t0034 a0001c0004t0023	a0001c0001t0006g0031 a0001c0001t0007g0037 a0001c0001t0007g0157 others(11): Show a0001c0001t0006g0031 a0001c0001t0007g0037 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0320 a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0010g0035 a0001c0001t0010g0038 a0001c0001t0020g0034 a0001c0001t0028g0033 a0001c0001t0031g0161 a0001c0001t0034g0156 a0001c0004t0023g0041	14	350	0.0400	41	c.142 others(58): Show c.142+9261_142+9262insTGCAAGGTTTTGTTACCTCGTGGCATCA GTCAGCGTGGATT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	599983	G G	GCAAGGTT others(34): Show GCAAGGTTTTGTTCCCTCGTGGCATCAGTCAGCGTGGATTCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp1 NA18906.hp2 HG02622.hp1 HG03130.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0159	3	350	0.0086	41	c.142 others(58): Show c.142+9590_142+9591insACAAGGTTTTGTTCCCTCGTGGCATCAG TCAGCGTGGATTC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	600024	G G	GCAAGGTT others(34): Show GCAAGGTTTTGTTCCCTCGTGGCATCAGTCAGCGTGGATTCA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0020 a0001c0001t0032g0020	1	350	0.0029	41	c.142 others(58): Show c.142+9630_142+9631insCACAAGGTTTTGTTCCCTCGTGGCATCA GTCAGCGTGGATT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(34): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18961.hp2 NA19068.hp2 NA18948.hp1 NA18961.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0303 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0303 a0001c0001t0005g0309 a0001c0001t0005g0310	3	354	0.0085	41	c.496 others(58): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGACTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar

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Search Results (Total: 2600 hits)