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
RIMBP2_chr12_130391133_130721299	130646058	A A	ACCACCTC others(17): Show ACCACCTCCCTCACCACTTCCCTCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0079 a0001c0003t0002g0079	1	180	0.0056	24	c.-35 others(45): Show c.-351-17603_-351-17602insAGAGGGAAGTGGTGAGGGAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646065	G G	GCCTCTCC others(17): Show GCCTCTCCACCTCCCTCACCACTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0070 a0001c0008t0001g0070	1	180	0.0056	24	c.-35 others(45): Show c.-351-17633_-351-17610dupGAAGTGGTGAGGGAGGTGGAGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646346	A A	ACCACTTG others(17): Show ACCACTTGCCTCTCCACCTGCCTCT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	180	0.0056	24	c.-35 others(45): Show c.-351-17891_-351-17890insAGAGGCAGGTGGAGAGGCAAGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713227	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG03516.hp1 others(1): Show HG01891.hp2 HG02280.hp1 HG03516.hp1 NA18522.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0002 a0001c0037 a0004c0012 others(1): Show a0001c0002 a0001c0037 a0004c0012 a0010c0032	a0001c0002t0001 a0001c0037t0001 a0004c0012t0002 others(1): Show a0001c0002t0001 a0001c0037t0001 a0004c0012t0002 a0010c0032t0002	a0001c0002t0001g0095 a0001c0037t0001g0094 a0004c0012t0002g0096 others(1): Show a0001c0002t0001g0095 a0001c0037t0001g0094 a0004c0012t0002g0096 a0010c0032t0002g0097	4	180	0.0222	24	c.-35 others(43): Show c.-352+2994_-352+2995insATCTTCCTTCCTTCCTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713231	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0087 a0001c0002t0001g0088	2	180	0.0111	24	c.-35 others(43): Show c.-352+2990_-352+2991insATCTTCCTTCCTTCCTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP3B_chr22_21378751_21394478	21382945	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02083.hp2 HG03041.hp2 others(3): Show HG01884.hp1 HG02083.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp1 NA18944.hp1	a0003 a0004 a0024 a0003 a0004 a0024	a0003c0051 a0003c0052 a0003c0054 others(3): Show a0003c0051 a0003c0052 a0003c0054 a0003c0055 a0004c0003 a0024c0033	a0003c0051t0005 a0003c0052t0005 a0003c0054t0005 others(3): Show a0003c0051t0005 a0003c0052t0005 a0003c0054t0005 a0003c0055t0005 a0004c0003t0003 a0024c0033t0001	a0003c0051t0005g0000 a0003c0052t0005g0000 a0003c0054t0005g0000 others(3): Show a0003c0051t0005g0000 a0003c0052t0005g0000 a0003c0054t0005g0000 a0003c0055t0005g0000 a0004c0003t0003g0000 a0024c0033t0001g0000	6	118	0.0509	24	c.-91 others(33): Show c.-914_-913insTGTGTGTGTGTGTGTGTGTGTGTG	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		805		chr22	TogoVar
RIMBP3C_chr22_21540666_21556461	21542037	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG01192.hp2 others(6): Show HG00735.hp2 HG01192.hp1 HG01192.hp2 HG02273.hp2 HG02451.hp2 HG02886.hp2 HG04228.hp2 NA19011.hp2 NA20300.hp1	a0003 a0005 a0011 others(5): Show a0003 a0005 a0011 a0019 a0026 a0028 a0055 a0076	a0003c0044 a0003c0058 a0005c0003 others(6): Show a0003c0044 a0003c0058 a0005c0003 a0011c0078 a0019c0018 a0026c0059 a0028c0028 a0055c0035 a0076c0038	a0003c0044t0001 a0003c0058t0001 a0005c0003t0001 others(6): Show a0003c0044t0001 a0003c0058t0001 a0005c0003t0001 a0011c0078t0001 a0019c0018t0001 a0026c0059t0001 a0028c0028t0001 a0055c0035t0001 a0076c0038t0001	a0003c0044t0001g0000 a0003c0058t0001g0000 a0005c0003t0001g0000 others(6): Show a0003c0044t0001g0000 a0003c0058t0001g0000 a0005c0003t0001g0000 a0011c0078t0001g0000 a0019c0018t0001g0000 a0026c0059t0001g0000 a0028c0028t0001g0000 a0055c0035t0001g0000 a0076c0038t0001g0000	9	200	0.0450	24	c.40 others(35): Show c.4019_*4020insGGAAGGAAGGAAGGAAGGAAGGAA	RIMBP3C	ENSG00000183246.8	transcript	ENST00000433039.2	protein_coding		3628		chr22	TogoVar
RIMBP3C_chr22_21540666_21556461	21551866	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01943.hp1 HG01943.hp2 others(7): Show HG00597.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG02300.hp1 HG02723.hp1 HG06807.hp2 NA18977.hp1 NA19083.hp1 NA19088.hp1	a0003 a0004 a0007 others(3): Show a0003 a0004 a0007 a0015 a0023 a0040	a0003c0020 a0004c0005 a0007c0009 others(4): Show a0003c0020 a0004c0005 a0007c0009 a0007c0074 a0015c0017 a0023c0025 a0040c0081	a0003c0020t0001 a0004c0005t0002 a0007c0009t0002 others(4): Show a0003c0020t0001 a0004c0005t0002 a0007c0009t0002 a0007c0074t0002 a0015c0017t0002 a0023c0025t0002 a0040c0081t0002	a0003c0020t0001g0000 a0004c0005t0002g0000 a0007c0009t0002g0000 others(4): Show a0003c0020t0001g0000 a0004c0005t0002g0000 a0007c0009t0002g0000 a0007c0074t0002g0000 a0015c0017t0002g0000 a0023c0025t0002g0000 a0040c0081t0002g0000	10	200	0.0500	24	c.-89 others(33): Show c.-891_-890insGTGTGTGTGTGTGTGTGTGTGTGT	RIMBP3C	ENSG00000183246.8	transcript	ENST00000433039.2	protein_coding		406		chr22	TogoVar
RIMKLA_chr1_42375792_42429232	42385891	T T	TTTCTTTC others(17): Show TTTCTTTCCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG03041.hp1 others(4): Show HG02109.hp2 HG02717.hp1 HG03041.hp1 HG03579.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 others(1): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0097	a0001c0001t0007g0096 a0001c0001t0009g0097 a0001c0001t0009g0098 others(4): Show a0001c0001t0007g0096 a0001c0001t0009g0097 a0001c0001t0009g0098 a0001c0001t0009g0101 a0001c0001t0009g0105 a0001c0001t0015g0102 a0001c0001t0097g0103	7	356	0.0197	24	c.163 others(41): Show c.163+4802_163+4825dupCTTCTTTCCTTCTTTCCTTCTTTC	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMKLA_chr1_42375792_42429232	42385891	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18522.hp2 HG01891.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0093 a0001c0001t0007g0095 a0001c0001t0007g0093 a0001c0001t0007g0095	2	356	0.0056	24	c.163 others(41): Show c.163+4801_163+4802insTTTCTTTCCTTCTTTCCTTCTTTC	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMOC1_chr5_41899344_41926636	41901253	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02135.hp1 HG02630.hp1 others(6): Show HG00140.hp2 HG02135.hp1 HG02630.hp1 NA18952.hp1 NA18974.hp2 NA19011.hp1 NA19066.hp2 NA19068.hp2 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0070 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0070 a0003c0004t0001g0001	9	318	0.0283	24	c.-31 others(35): Show c.-3115_-3114insTTTTTTTTTTTTTTTTTTTTTTTT	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding		3090		chr5	TogoVar
RIMS1_chr6_71881550_72408145	72092287	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp2 HG06807.hp2 HG00738.hp1 HG01243.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0003t0016 a0001c0001t0001 a0001c0003t0004 a0001c0003t0016	a0001c0001t0001g0046 a0001c0003t0004g0127 a0001c0003t0016g0091 a0001c0001t0001g0046 a0001c0003t0004g0127 a0001c0003t0016g0091	3	140	0.0214	24	c.246 others(41): Show c.246-4659_246-4658insTCCTTCCTTCCTTCCTTCCTTCCT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS1_chr6_71881550_72408145	72092291	C C	CCCTCCCT others(17): Show CCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0080 a0001c0005t0010g0080	1	140	0.0071	24	c.246 others(41): Show c.246-4655_246-4654insCCCTTCCTTCCTTCCTTCCTTCCT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS1_chr6_71881550_72408145	72092291	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0073 a0001c0006t0002g0073	1	140	0.0071	24	c.246 others(41): Show c.246-4651_246-4628dupTTCCTTCCTTCCTTCCTTCCTTCC	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS1_chr6_71881550_72408145	72093210	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02145.hp1 HG00738.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0004 a0001c0006t0002 a0001c0003t0004 a0001c0006t0002	a0001c0003t0004g0127 a0001c0006t0002g0073 a0001c0003t0004g0127 a0001c0006t0002g0073	2	140	0.0143	24	c.246 others(41): Show c.246-3721_246-3720insTATATATATATATATATATATATA	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS1_chr6_71881550_72408145	72196373	G G	GTTTGTCT others(17): Show GTTTGTCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0070 a0001c0006t0002g0070	1	140	0.0071	24	c.167 others(45): Show c.1678+13225_1678+13226insTTGTCTATCTATCTATCTATCTAT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	6/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS2_chr8_103495610_104259430	103498697	A A	ACACACAC others(17): Show ACACACACACACACACACACACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01258.hp2 HG00323.hp1 HG01258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0002 a0001c0001t0007 a0002c0002t0002	a0001c0001t0007g0151 a0002c0002t0002g0150 a0001c0001t0007g0151 a0002c0002t0002g0150	2	172	0.0116	24	c.-21 others(35): Show c.-2190_-2189insCACACACACACACACACACACAGG	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding		1912		chr8	TogoVar
RIMS2_chr8_103495610_104259430	103587409	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	172	0.0058	24	c.177 others(43): Show c.177-64757_177-64734dupGAAAGAAAGAAAGAAAGAAAGAAA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	103813389	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp2 NA19056.hp1 others(1): Show HG02647.hp2 HG03130.hp2 NA19056.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0003t0009 a0001c0003t0018 others(1): Show a0001c0003t0001 a0001c0003t0009 a0001c0003t0018 a0001c0007t0001	a0001c0003t0001g0125 a0001c0003t0009g0158 a0001c0003t0018g0065 others(1): Show a0001c0003t0001g0125 a0001c0003t0009g0158 a0001c0003t0018g0065 a0001c0007t0001g0128	4	172	0.0233	24	c.830 others(43): Show c.830+46855_830+46878dupCTTTCTTTCTTTCTTTCTTTCTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	103967170	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0048 a0002c0002t0005g0048	1	172	0.0058	24	c.299 others(43): Show c.2995+6044_2995+6067dupTTTTTTTTTTTTTTTTTTTTTTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	104145671	C C	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	172	0.0058	24	c.386 others(43): Show c.3867-2916_3867-2893dupAAATAAATAAATAAATAAATAAAT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS3_chr1_40615680_40670682	40617242	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02738.hp2 HG03491.hp2 HG00738.hp2 HG02738.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0123 a0001c0001t0021g0151 a0001c0001t0021g0152 a0001c0001t0001g0123 a0001c0001t0021g0151 a0001c0001t0021g0152	3	376	0.0080	24	c.92 others(35): Show c.9274_*9275insAAAAAAAAAAAAAAAAAAAAAAAA	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding		3437		chr1	TogoVar
RIMS3_chr1_40615680_40670682	40670574	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG02965.hp1 others(7): Show HG01074.hp1 HG01167.hp2 HG02965.hp1 HG02976.hp2 HG03710.hp1 NA18522.hp1 NA18952.hp2 NA18979.hp1 NA18999.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0029 a0002c0002t0017	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0087 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0087 a0001c0001t0003g0287 a0001c0001t0005g0290 a0001c0001t0007g0279 a0001c0001t0008g0160 a0001c0001t0013g0052 a0001c0001t0029g0251 a0002c0002t0017g0014	10	376	0.0266	24	c.-53 others(35): Show c.-5388_-5387insTATATATATATATATATATATATA	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding		4893		chr1	TogoVar
RIMS4_chr20_44746808_44815546	44764115	T T	TATCCATC others(17): Show TATCCATCCATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02723.hp2 HG03654.hp1 others(2): Show HG02683.hp1 HG02723.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0041 others(1): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0041 a0001c0001t0052	a0001c0001t0002g0025 a0001c0001t0021g0305 a0001c0001t0041g0040 others(1): Show a0001c0001t0002g0025 a0001c0001t0021g0305 a0001c0001t0041g0040 a0001c0001t0052g0185	5	382	0.0131	24	c.237 others(41): Show c.237-5932_237-5931insGGATGGATGGATGGATGGATGGAT	RIMS4	ENSG00000101098.13	transcript	ENST00000372851.8	protein_coding	2/5			chr20	TogoVar
RIMS4_chr20_44746808_44815546	44810504	C C	CGGCGGCG others(17): Show CGGCGGCGGCGGTGGCGGCGGCGGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0039 a0001c0001t0039g0039	1	382	0.0026	24	c.-25 others(33): Show c.-257_-234dupACCGCCGCCGCCACCGCCGCCGCC	RIMS4	ENSG00000101098.13	transcript	ENST00000372851.8	protein_coding	1/6	234		chr20	TogoVar
RIMS4_chr20_44746808_44815546	44815026	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 NA18984.hp1 HG02965.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0080 a0001c0001t0077 a0001c0001t0080	a0001c0001t0077g0299 a0001c0001t0080g0314 a0001c0001t0077g0299 a0001c0001t0080g0314	2	382	0.0052	24	c.-47 others(35): Show c.-4756_-4755insCACACACACACACACACACACACA	RIMS4	ENSG00000101098.13	transcript	ENST00000372851.8	protein_coding		4481		chr20	TogoVar
RIN2_chr20_19753258_20007456	19764918	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02965.hp2 HG02615.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0025 a0001c0001t0026 a0001c0002t0025	a0001c0001t0026g0260 a0001c0002t0025g0261 a0001c0001t0026g0260 a0001c0002t0025g0261	2	276	0.0073	24	c.-16 others(43): Show c.-163+6593_-163+6616dupTTTTTTTTTTTTTTTTTTTTTTTT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN2_chr20_19753258_20007456	19833283	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp1 HG01192.hp1 others(1): Show HG01099.hp2 HG01167.hp1 HG01192.hp1 HG01978.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0022 a0001c0001t0037 others(1): Show a0001c0001t0004 a0001c0001t0022 a0001c0001t0037 a0002c0003t0001	a0001c0001t0004g0193 a0001c0001t0022g0127 a0001c0001t0037g0092 others(1): Show a0001c0001t0004g0193 a0001c0001t0022g0127 a0001c0001t0037g0092 a0002c0003t0001g0166	4	276	0.0145	24	c.-37 others(43): Show c.-37+33549_-37+33550insATATATATATATATATATATATAT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN2_chr20_19753258_20007456	19904237	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG06807.hp2 HG02486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0157 a0001c0002t0002g0158 a0001c0001t0001g0157 a0001c0002t0002g0158	2	276	0.0073	24	c.57+ others(41): Show c.57+14583_57+14584insATATATATATATATATATATAAAA	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN3_chr14_92508781_92693994	92518789	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0069 a0016c0022t0001g0069	1	334	0.0030	24	c.44+ others(39): Show c.44+4827_44+4850dupGTGTGTGTGTGTGTGTGTGTGTGT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561040	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0270 a0005c0006t0001g0270	1	334	0.0030	24	c.249 others(41): Show c.249+5086_249+5087insTATATATATATATATATATATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561042	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18955.hp2 NA21309.hp2 HG02922.hp1 NA18955.hp2 NA21309.hp2	a0005 a0014 a0032 a0005 a0014 a0032	a0005c0006 a0014c0038 a0032c0047 a0005c0006 a0014c0038 a0032c0047	a0005c0006t0003 a0014c0038t0001 a0032c0047t0001 a0005c0006t0003 a0014c0038t0001 a0032c0047t0001	a0005c0006t0003g0089 a0014c0038t0001g0249 a0032c0047t0001g0332 a0005c0006t0003g0089 a0014c0038t0001g0249 a0032c0047t0001g0332	3	334	0.0090	24	c.249 others(41): Show c.249+5088_249+5089insTATATATATATATATATATATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIOK2_chr5_97155867_97188247	97178324	T T	TCTGTCCT others(17): Show TCTGTCCTCTGCAGTACCTACATGC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0163 a0011c0013t0001g0163	1	410	0.0024	24	c.206 others(39): Show c.206-477_206-476insGCATGTAGGTACTGCAGAGGACAG	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	2/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97179966	T T	TATATATA others(17): Show TATATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0029 a0006c0009t0029	a0006c0009t0029g0255 a0006c0009t0029g0255	1	410	0.0024	24	c.67- others(37): Show c.67-774_67-773insTATATATATATTATATATATATAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97179966	T T	TATATATA others(17): Show TATATATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0011 a0006c0009t0011	a0006c0009t0011g0242 a0006c0009t0011g0242	1	410	0.0024	24	c.67- others(37): Show c.67-774_67-773insTATATATATATAATATATATATAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180027	A A	AATATATA others(17): Show AATATATATATTATATATATATTAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 HG01515.hp1 HG01081.hp1 HG01168.hp2 HG01515.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0025 a0003c0003t0004g0025	3	410	0.0073	24	c.67- others(37): Show c.67-835_67-834insATAATATATATATAATATATATAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK3_chr18_23448287_23488140	23469324	T T	TCCCCCTC others(17): Show TCCCCCTCTCTCCCCCTCTCTCCCC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0012 a0005c0005t0012	a0005c0005t0012g0277 a0005c0005t0012g0277	1	402	0.0025	24	c.815 others(41): Show c.815+1799_815+1800insCCCCTCTCTCCCCCTCTCTCCCCC	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIOX2_chr3_97936818_97977431	97946586	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0169 a0001c0001t0017g0169	1	370	0.0027	24	c.115 others(41): Show c.1150-700_1150-699insTATATATATATATATATATATATA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding	8/9			chr3	TogoVar
RIOX2_chr3_97936818_97977431	97972611	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0195 a0002c0002t0002g0195	1	370	0.0027	24	c.-27 others(33): Show c.-271_-270insAAAAAAAAAAAAAAAAAAAAAAAA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding		181		chr3	TogoVar
RIPK1_chr6_3063494_3120187	3076699	C C	CATACATA others(17): Show CATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0321 a0001c0001t0007g0321	1	340	0.0029	24	c.-60 others(37): Show c.-60-62_-60-61insCATATATATATATATATATATATA	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3076699	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02976.hp2 HG03516.hp1 others(5): Show HG02145.hp2 HG02976.hp2 HG03516.hp1 HG03540.hp1 NA18747.hp2 NA18956.hp1 NA18983.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0025	a0001c0001t0001g0027 a0001c0001t0003g0026 a0001c0002t0001g0015 others(5): Show a0001c0001t0001g0027 a0001c0001t0003g0026 a0001c0002t0001g0015 a0001c0002t0001g0041 a0001c0002t0001g0145 a0001c0002t0001g0210 a0001c0002t0002g0272 a0001c0002t0025g0045	8	340	0.0235	24	c.-60 others(37): Show c.-60-61_-60-38dupTATATATATATATATATATATATA	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(17): Show ACTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03225.hp1 HG02886.hp1 HG03225.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0016 a0001c0002 a0004c0016	a0001c0002t0002 a0004c0016t0002 a0001c0002t0002 a0004c0016t0002	a0001c0002t0002g0188 a0004c0016t0002g0045 a0001c0002t0002g0188 a0004c0016t0002g0045	2	448	0.0045	24	c.48 others(35): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(17): Show CTTCTTCTTCTTCTTCTTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	448	0.0022	24	c.47 others(35): Show c.4781_*4782insTAATAATAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(17): Show CTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA19078.hp2 NA18982.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0067 a0001c0002t0002g0062 a0001c0002t0002g0067	2	448	0.0045	24	c.47 others(35): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPOR3_chr20_50581108_50696542	50615108	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0196 a0001c0007t0002g0196	1	280	0.0036	24	c.348 others(39): Show c.348+870_348+893dupACACACACACACACACACACACAC	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	4/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50679149	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	280	0.0036	24	c.3+1 others(39): Show c.3+11976_3+11977insGTGTGTATATATATATATATATAT	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50679149	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	280	0.0036	24	c.3+1 others(39): Show c.3+11976_3+11977insGTGTATATATATATATATATATAT	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50679149	T T	TATATATA others(17): Show TATATATATATATATATATATGTAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	280	0.0036	24	c.3+1 others(39): Show c.3+11976_3+11977insGTACATATATATATATATATATAT	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50682612	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00639.hp2 others(15): Show HG00423.hp2 HG00558.hp1 HG00639.hp2 HG01070.hp1 HG01256.hp2 HG01257.hp2 HG01358.hp1 HG02129.hp2 HG03453.hp2 HG03834.hp1 NA18941.hp1 NA18945.hp1 NA18954.hp1 NA18954.hp2 NA18969.hp2 NA19005.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0013 a0015	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0018 a0002c0002 a0008c0031 a0013c0032 a0015c0022	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 a0001c0006t0002 a0001c0007t0002 a0001c0011t0002 a0001c0018t0001 a0002c0002t0001 a0002c0002t0002 a0008c0031t0001 a0013c0032t0001 a0015c0022t0001	a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0001g0221 others(15): Show a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0229 a0001c0003t0002g0123 a0001c0003t0002g0225 a0001c0004t0002g0098 a0001c0006t0002g0223 a0001c0007t0002g0196 a0001c0011t0002g0107 a0001c0018t0001g0137 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0002g0230 a0008c0031t0001g0226 a0013c0032t0001g0197 a0015c0022t0001g0192	18	280	0.0643	24	c.3+8 others(37): Show c.3+8513_3+8514insCACACACACACACACACACACACA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIT2_chr18_42738227_43120685	42929034	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01257.hp1 HG01258.hp1 others(8): Show HG01071.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG02647.hp2 HG04199.hp2 NA18974.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0103 a0001c0001t0001g0155 others(8): Show a0001c0001t0001g0035 a0001c0001t0001g0103 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0206 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0090 a0001c0002t0001g0100 a0001c0002t0001g0180	11	240	0.0458	24	c.235 others(41): Show c.235-5295_235-5272dupATATATATATATATATATATATAT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	3/4			chr18	TogoVar

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