Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTPRS_chr19_5200508_5345812	5345264	G G	GCGCGGTG others(18): Show GCGCGGTGGCCCACGTCTACCTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01109.hp2 others(25): Show HG00323.hp2 HG00741.hp2 HG01109.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0004 a0001c0006 others(17): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0019 a0001c0027 a0001c0035 a0001c0042 a0001c0054 a0001c0059 a0001c0063 a0001c0066 a0010c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0004t0009 a0001c0006t0008 a0001c0008t0007 a0001c0010t0005 a0001c0010t0008 a0001c0011t0009 a0001c0012t0001 a0001c0013t0011 a0001c0014t0001 a0001c0015t0016 a0001c0016t0013 a0001c0019t0005 a0001c0027t0003 a0001c0035t0033 a0001c0042t0025 a0001c0054t0013 a0001c0059t0001 a0001c0063t0001 a0001c0066t0001 a0010c0036t0006	a0001c0001t0001g0055 a0001c0001t0002g0064 a0001c0001t0020g0048 others(25): Show a0001c0001t0001g0055 a0001c0001t0002g0064 a0001c0001t0020g0048 a0001c0001t0020g0049 a0001c0004t0009g0056 a0001c0006t0008g0059 a0001c0008t0007g0050 a0001c0010t0005g0053 a0001c0010t0008g0065 a0001c0010t0008g0067 a0001c0011t0009g0046 a0001c0012t0001g0072 a0001c0013t0011g0054 a0001c0014t0001g0045 a0001c0015t0016g0051 a0001c0015t0016g0052 a0001c0016t0013g0057 a0001c0016t0013g0062 a0001c0016t0013g0066 a0001c0019t0005g0070 a0001c0027t0003g0036 a0001c0035t0033g0071 a0001c0042t0025g0047 a0001c0054t0013g0068 a0001c0059t0001g0060 a0001c0063t0001g0035 a0001c0066t0001g0063 a0010c0036t0006g0069	28	274	0.1022	25	c.-46 others(36): Show c.-4696_-4695insTGCTAGGTAGACGTGGGCCACCGCG	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding		4453		chr19	TogoVar
PTPRT_chr20_42067756_43194906	42086753	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0047 a0001c0003t0020g0047	1	50	0.0200	25	c.384 others(42): Show c.3847-901_3847-900insATATATATATATATATATATATTTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42624005	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0047 a0001c0003t0020g0047	1	42	0.0238	25	c.115 others(46): Show c.1153+53860_1153+53861insTGTTTTTTTTTTTTTTTTTTTTTT T	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42633784	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0008 a0004c0006t0008	a0004c0006t0008g0054 a0004c0006t0008g0054	1	27	0.0370	25	c.115 others(46): Show c.1153+44081_1153+44082insATATATATATATATATATATATAT A	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42683271	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG01257.hp1 others(7): Show HG00140.hp1 HG00438.hp1 HG01257.hp1 HG02109.hp2 HG03195.hp1 HG03540.hp2 NA19030.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0007 a0001c0021 a0001c0030 others(4): Show a0001c0007 a0001c0021 a0001c0030 a0002c0001 a0002c0009 a0002c0016 a0004c0006	a0001c0007t0004 a0001c0021t0001 a0001c0030t0001 others(6): Show a0001c0007t0004 a0001c0021t0001 a0001c0030t0001 a0002c0001t0002 a0002c0001t0010 a0002c0001t0026 a0002c0009t0001 a0002c0016t0030 a0004c0006t0008	a0001c0007t0004g0062 a0001c0021t0001g0053 a0001c0030t0001g0035 others(7): Show a0001c0007t0004g0062 a0001c0021t0001g0053 a0001c0030t0001g0035 a0002c0001t0002g0011 a0002c0001t0002g0015 a0002c0001t0010g0024 a0002c0001t0026g0012 a0002c0009t0001g0018 a0002c0016t0030g0014 a0004c0006t0008g0054	10	26	0.3846	25	c.860 others(42): Show c.860-5137_860-5113dupCAAAACAAAACAAAACAAAACAAAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	6/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	30972269	A A	AAGGGGAG others(18): Show AAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18943.hp1 NA18979.hp1 others(2): Show HG01256.hp1 NA18943.hp1 NA18979.hp1 NA19074.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0069 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0069 a0001c0001t0001g0140 a0001c0001t0001g0196	5	251	0.0199	25	c.150 others(44): Show c.1506+2381_1506+2382insCCCCTCCCCTCCCCTCCCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972274	A A	AAGGGGAG others(18): Show AAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	160	0.0063	25	c.150 others(44): Show c.1506+2376_1506+2377insCCCCTCCCCTCCCCTCCCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30999606	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0030 a0001c0002t0015g0030	1	5	0.2000	25	c.721 others(42): Show c.721-4411_721-4387dupTTTTTTTTTTTTTTTTTTTTTTTTT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	5/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	94	0.0106	25	c.364 others(44): Show c.364-10121_364-10120insATATATATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	94	0.0106	25	c.364 others(44): Show c.364-10121_364-10120insAAATATATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp2 HG02922.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0182 a0001c0001t0001g0188	2	95	0.0211	25	c.364 others(44): Show c.364-10121_364-10120insAAAAAAAAATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	94	0.0106	25	c.364 others(44): Show c.364-10121_364-10120insAAAAAAAAAAATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	94	0.0106	25	c.364 others(44): Show c.364-10121_364-10120insAAAAAAAAAAAAATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02056.hp1 HG02074.hp2 others(6): Show HG00639.hp1 HG02056.hp1 HG02074.hp2 HG02145.hp1 HG02300.hp2 HG02735.hp2 NA18994.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0140 others(6): Show a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0251 a0001c0001t0003g0183 a0001c0001t0003g0207 a0001c0001t0011g0347	9	14	0.6429	25	c.195 others(44): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20303202	G G	GGCTTCTA others(18): Show GGCTTCTACTGCATCAGGCAGTGAGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01167.hp2 others(10): Show HG00642.hp2 HG00733.hp2 HG01167.hp2 HG01169.hp2 HG01516.hp1 HG01517.hp2 HG02280.hp1 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG04184.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017	13	356	0.0365	25	c.883 others(42): Show c.883+4751_883+4775dupACTCACTGCCTGATGCAGTAGAAGC	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	7/20			chr2	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02683.hp2 HG01099.hp1 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0027 a0002c0002t0005g0027	2	194	0.0103	25	c.11 others(38): Show c.11568_*11569insATATATATATATTTTTTTTTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0160 a0001c0001t0044g0160	1	193	0.0052	25	c.11 others(38): Show c.11568_*11569insATATATATATATATATATTTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03041.hp1 HG02723.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0080 a0001c0001t0001g0031 a0001c0001t0001g0080	2	7	0.2857	25	c.22 others(36): Show c.2213_*2214insATATATATATATATATATATATATA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		926		chr7	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0349 a0001c0001t0004g0349	1	8	0.1250	25	c.-32 others(40): Show c.-32-665_-32-641dupTTTTTTTTTTTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PWWP2B_chr10_132392200_132422859	132419620	G G	GGGGGGGC others(18): Show GGGGGGGCCTGGAGGAGGGGTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG03225.hp2 HG00741.hp2 HG02451.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0105 a0001c0001t0001g0207 a0001c0001t0001g0055 a0001c0001t0001g0105 a0001c0001t0001g0207	3	372	0.0081	25	c.25 others(36): Show c.2576_*2577insGGGGGGCCTGGAGGAGGGGTCTCCT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1762		chr10	TogoVar
PXDNL_chr8_51314577_51814445	51455115	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	55	0.0182	25	c.983 others(42): Show c.983-1331_983-1330insTTTTTTTTTTTTTTTTTTTTTTTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	9/22			chr8	TogoVar
PXMP2_chr12_132682587_132709985	132694095	C C	CAGTTAGT others(18): Show CAGTTAGTGAGCGCCCTTAGCCAGTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp1 HG01071.hp1 others(6): Show HG00544.hp2 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG03490.hp1 HG03492.hp2 NA18977.hp1 NA18986.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0008 a0001c0003t0003 a0001c0003t0008	a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 others(6): Show a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0143 a0001c0003t0003g0159 a0001c0003t0008g0145	9	311	0.0289	25	c.237 others(42): Show c.237-1772_237-1771insAGCCAGTTAGTTAGTGAGCGCCCTT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYDC2_chr3_191456163_191466456	191463108	T T	TCCCTCCC others(18): Show TCCCTCCCTCCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	25	c.16 others(36): Show c.1652_*1653insCCCTCCCTCCCTCCCTCCCTCCCTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1653		chr3	TogoVar
PYGB_chr20_25243085_25303012	25286610	T T	TGCTGGGC others(18): Show TGCTGGGCCAAGGCCATGCTTCCCCA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	370	0.0027	25	c.176 others(44): Show c.1769-1812_1769-1788dupTGGGCCAAGGCCATGCTTCCCCAGC	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
PYY_chr17_43947733_43958940	43958135	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA18906.hp2 HG02280.hp1 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	2	142	0.0141	25	c.-42 others(36): Show c.-4287_-4286insTTTTTTTTTTTTTTTTTTTTTTTTT	PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding		4196		chr17	TogoVar
PZP_chr12_9143840_9213395	9185790	A A	ATTTCTTT others(18): Show ATTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp2 others(57): Show HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02486.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG03017.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18990.hp1 NA19000.hp1 NA19006.hp1 NA19056.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0014 a0016 a0017 a0026 a0031	a0001c0038 a0001c0046 a0002c0002 others(15): Show a0001c0038 a0001c0046 a0002c0002 a0002c0065 a0003c0022 a0004c0004 a0005c0008 a0005c0019 a0006c0007 a0007c0005 a0008c0025 a0010c0009 a0011c0010 a0014c0016 a0016c0017 a0017c0015 a0026c0064 a0031c0060	a0001c0038t0001 a0001c0046t0001 a0002c0002t0001 others(15): Show a0001c0038t0001 a0001c0046t0001 a0002c0002t0001 a0002c0065t0001 a0003c0022t0001 a0004c0004t0001 a0005c0008t0001 a0005c0019t0001 a0006c0007t0001 a0007c0005t0001 a0008c0025t0001 a0010c0009t0001 a0011c0010t0001 a0014c0016t0001 a0016c0017t0001 a0017c0015t0001 a0026c0064t0001 a0031c0060t0001	a0001c0038t0001g0119 a0001c0046t0001g0051 a0002c0002t0001g0145 others(46): Show a0001c0038t0001g0119 a0001c0046t0001g0051 a0002c0002t0001g0145 a0002c0002t0001g0157 a0002c0002t0001g0172 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0065t0001g0138 a0003c0022t0001g0121 a0004c0004t0001g0004 a0004c0004t0001g0030 a0004c0004t0001g0031 a0004c0004t0001g0222 a0004c0004t0001g0273 a0005c0008t0001g0022 a0005c0008t0001g0023 a0005c0008t0001g0132 a0005c0008t0001g0173 a0005c0008t0001g0176 a0005c0008t0001g0177 a0005c0008t0001g0181 a0005c0008t0001g0182 a0005c0008t0001g0191 a0005c0008t0001g0214 a0005c0019t0001g0048 a0005c0019t0001g0174 a0005c0019t0001g0175 a0006c0007t0001g0118 a0007c0005t0001g0069 a0007c0005t0001g0122 a0007c0005t0001g0124 a0007c0005t0001g0248 a0007c0005t0001g0271 a0008c0025t0001g0247 a0010c0009t0001g0012 a0010c0009t0001g0221 a0010c0009t0001g0237 a0010c0009t0001g0242 a0010c0009t0001g0251 a0011c0010t0001g0021 a0014c0016t0001g0140 a0014c0016t0001g0155 a0016c0017t0001g0027 a0017c0015t0001g0133 a0026c0064t0001g0171 a0031c0060t0001g0178	60	212	0.2830	25	c.154 others(44): Show c.1547-3698_1547-3674dupAGAAAAGAAAAGAAAAGAAAAGAAA	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	13/35			chr12	TogoVar
QRICH1_chr3_49024707_49099071	49050248	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01981.hp2 HG01261.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0082 a0001c0001t0001g0090	2	60	0.0333	25	c.133 others(44): Show c.1339-3027_1339-3003dupTTTTTTTTTTTTTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	3/9			chr3	TogoVar
QRICH2_chr17_76269049_76313276	76299134	C C	CCTACCTT others(18): Show CCTACCTTCACCTGAATAAAATCAAG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	362	0.0028	25	c.706 others(42): Show c.706-5138_706-5114dupCTTGATTTTATTCAGGTGAAGGTAG	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	3/18			chr17	TogoVar
R3HDML_chr20_44332043_44356238	44348482	C C	CTCCTTTC others(18): Show CTCCTTTCCTTTCCTTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00733.hp2 others(2): Show HG00099.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0014 a0001c0002t0001g0173 a0001c0001t0001g0014 a0001c0002t0001g0173	5	26	0.1923	25	c.630 others(42): Show c.630-2165_630-2141dupCTTTCCTTTCCTTTCCTTTCCTTTC	R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB10_chr2_26029084_26142454	26114737	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	165	0.0061	25	c.327 others(42): Show c.327+4849_327+4850insAAAAAAAAAAAAAAAAAAAAAAAAA	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP4_chr17_31386675_31543211	31448392	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	96	0.0104	25	c.336 others(44): Show c.336+14289_336+14290insTTTTTTTTTTTTTTTTTTTTTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB11FIP4_chr17_31386675_31543211	31517186	C C	CGGTGCGG others(18): Show CGGTGCGGGGGGGGGGGGCGGTGGGG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0174 a0001c0001t0031g0174	1	307	0.0033	25	c.337 others(40): Show c.337-449_337-448insGCGGTGGGGGGTGCGGGGGGGGGGG	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB15_chr14_64940816_64977336	64973893	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01257.hp1 HG02300.hp1 others(4): Show HG01256.hp2 HG01257.hp1 HG02300.hp1 HG02970.hp1 NA18948.hp1 NA18964.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0021 a0001c0002t0007 a0001c0001t0006 a0001c0001t0021 a0001c0002t0007	a0001c0001t0006g0024 a0001c0001t0006g0047 a0001c0001t0006g0252 others(4): Show a0001c0001t0006g0024 a0001c0001t0006g0047 a0001c0001t0006g0252 a0001c0001t0006g0257 a0001c0001t0021g0187 a0001c0002t0007g0247 a0001c0002t0007g0249	7	139	0.0504	25	c.-18 others(36): Show c.-1818_-1817insTTTTTTTTTTTTTTTTTTTTTTTTT	RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding		1558		chr14	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02258.hp1 NA18961.hp1 others(2): Show HG01975.hp1 HG02258.hp1 NA18961.hp1 NA18963.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0030 a0001c0001t0003 a0001c0001t0004 a0001c0001t0030	a0001c0001t0003g0001 a0001c0001t0003g0233 a0001c0001t0004g0035 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0233 a0001c0001t0004g0035 a0001c0001t0030g0193	5	13	0.3846	25	c.84 others(36): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTTTTTTTT	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding		4260		chr10	TogoVar
RAB1A_chr2_65081854_65135106	65103299	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18990.hp2 HG02970.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0095 a0001c0001t0001g0046 a0001c0001t0001g0095	2	279	0.0072	25	c.96+ others(40): Show c.96+1434_96+1435insTTTTTTTTTTTTTTTTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB2A_chr8_60511987_60628644	60585281	C C	CGTTTTGT others(18): Show CGTTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp1 HG02809.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0330 a0001c0001t0004g0331	2	355	0.0056	25	c.362 others(40): Show c.362+466_362+467insGTTTTGTTTTGTTTTGTTTTGTTTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	5/7			chr8	TogoVar
RAB2A_chr8_60511987_60628644	60585282	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0349 a0001c0001t0004g0349	1	148	0.0068	25	c.362 others(40): Show c.362+491_362+515dupTGTTTTGTTTTGTTTTGTTTTGTTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB2A_chr8_60511987_60628644	60598937	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0327 a0001c0001t0004g0327	1	89	0.0112	25	c.474 others(42): Show c.474+6973_474+6997dupAAAAAAAAAAAAAAAAAAAAAAAAA	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB2B_chr14_21454020_21481959	21454162	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02258.hp2 NA18997.hp2 others(1): Show HG01346.hp2 HG02258.hp2 NA18997.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0026 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0026 a0001c0001t0006g0012	4	85	0.0471	25	c.70 others(36): Show c.7009_*7033dupCTTTTCTTTTCTTTTCTTTTCTTTT	RAB2B	ENSG00000129472.15	transcript	ENST00000397762.6	protein_coding		4857		chr14	TogoVar
RAB31_chr18_9703301_9867551	9719298	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0083 a0001c0001t0026g0083	1	228	0.0044	25	c.39+ others(42): Show c.39+10854_39+10855insTATATATATATATATATATATATAT	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	1/6			chr18	TogoVar
RAB35_chr12_120090099_120121753	120110290	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02109.hp1 HG02145.hp2 others(7): Show HG00642.hp2 HG02109.hp1 HG02145.hp2 HG02886.hp2 HG03453.hp1 HG03579.hp1 HG03710.hp1 HG03927.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0003g0048 others(6): Show a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0156 a0001c0001t0003g0269	10	39	0.2564	25	c.53- others(40): Show c.53-1824_53-1823insAAAAAAAAAAAAAAAAAAAAAAAAA	RAB35	ENSG00000111737.12	transcript	ENST00000229340.10	protein_coding	1/5			chr12	TogoVar
RAB3C_chr5_58578075_58864394	58597079	A A	ATATAATA others(18): Show ATATAATACATTATATTTTATATAAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0134 a0001c0001t0011g0134	1	218	0.0046	25	c.24+ others(42): Show c.24+13847_24+13848insTATAATACATTATATTTTATATAAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58797368	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0212 a0001c0001t0011g0212	1	185	0.0054	25	c.372 others(44): Show c.372-27670_372-27669insTATATATATATATATATATATATAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	3/4			chr5	TogoVar
RAB40B_chr17_82649973_82703698	82678879	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0057 a0001c0001t0044g0057	1	48	0.0208	25	c.143 others(44): Show c.143-14324_143-14323insAAAAAAAAAAAAAAAAAAAAAAAAA	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB40C_chr16_585066_634268	601815	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	140	0.0071	25	c.142 others(44): Show c.142+11388_142+11412dupAAAAAAAAAAAAAAAAAAAAAAAAA	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0102 a0001c0001t0083g0102	1	188	0.0053	25	c.37 others(36): Show c.3792_*3793insATATATATATTTTTTTTTTTTTTTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(18): Show GAAAGTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01361.hp1 NA20905.hp2 HG00140.hp2 HG01361.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0003g0053 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0003g0053	3	26	0.1154	25	c.496 others(42): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAGACTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739280	A A	ATACATAT others(18): Show ATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	303	0.0033	25	c.71- others(40): Show c.71-8458_71-8457insATATATATATATATATATATATGTA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739282	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0301 a0001c0001t0004g0301	1	253	0.0040	25	c.71- others(40): Show c.71-8460_71-8459insATATATATATATATATATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0323 a0001c0001t0005g0323	1	55	0.0182	25	c.71- others(40): Show c.71-8462_71-8461insATATATATATATATTTTTTTTTTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar

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