Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
RIBC2_chr22_45408693_45437509	45436165	CACTTTGT others(37): Show CACTTTGTCGCCCAAGCTGGCGTGGCACAATCTTGACTTACTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	422	0.0024	-44	c.38 others(55): Show c.3804_*3847delACTTTGTCGCCCAAGCTGGCGTGGCACAATCTTG ACTTACTGCA	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding		3657		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21383034	CTGAGGCC others(37): Show CTGAGGCCTCTACCTAAGATGCCAATGAGTAGCCCAGACACTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	118	0.0085	-44	c.-82 others(53): Show c.-824_-781delTGAGGCCTCTACCTAAGATGCCAATGAGTAGCCCAG ACACTGGG	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		716		chr22	TogoVar
RMND1_chr6_151399762_151457126	151450359	GGGGTCAG others(37): Show GGGGTCAGCCCCCGCCAGGCCAGCCACCCCATCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02965.hp2 others(3): Show HG02109.hp2 HG02717.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0258 a0001c0001t0005g0017 a0001c0001t0005g0259 others(2): Show a0001c0001t0002g0258 a0001c0001t0005g0017 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0261	6	390	0.0154	-44	c.-15 others(61): Show c.-15+1613_-15+1656delACCTCCCTCCCGGATGGGGTGGCTGGCC TGGCGGGGGCTGACCC	RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding	1/11			chr6	TogoVar
RNF126_chr19_642526_668214	644453	AGATCCCC others(37): Show AGATCCCCCGGGGAAGGGCGGAGGCCAACGCCTCGGTGTTCCTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 NA19002.hp1 HG02895.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0002g0023 a0001c0001t0001g0015 a0001c0001t0002g0023	2	432	0.0046	-44	c.36 others(55): Show c.3631_*3674delGGAGGAACACCGAGGCGTTGGCCTCCGCCCTTCC CCGGGGGATC	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		3072		chr19	TogoVar
RNF213_chr17_80255852_80403794	80272840	CCACTGGG others(37): Show CCACTGGGAGAATGCCCACCCTGGGGAAGACAGGAGGAATGTCTA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0017 a0008c0013t0017	a0008c0013t0017g0241 a0008c0013t0017g0241	1	290	0.0034	-44	c.98- others(57): Show c.98-398_98-355delCTGGGAGAATGCCCACCCTGGGGAAGACAGGA GGAATGTCTACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	2/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1075620	GGGGGTTG others(37): Show GGGGGTTGGGGGGACCCCTGCCAGTTCCATGAGGACTCTCAGTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02258.hp2 HG02818.hp2 others(8): Show HG01123.hp1 HG02258.hp2 HG02818.hp2 HG02896.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp1 HG03579.hp1 NA19240.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0009 a0002c0002 a0008c0009	a0002c0002t0004 a0002c0002t0010 a0002c0002t0015 others(1): Show a0002c0002t0004 a0002c0002t0010 a0002c0002t0015 a0008c0009t0001	a0002c0002t0004g0006 a0002c0002t0004g0043 a0002c0002t0010g0018 others(2): Show a0002c0002t0004g0006 a0002c0002t0004g0043 a0002c0002t0010g0018 a0002c0002t0015g0044 a0008c0009t0001g0045	11	322	0.0342	-44	c.-16 others(55): Show c.-1658_-1615delTGACTGAGAGTCCTCATGGAACTGGCAGGGGTCC CCCCAACCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1315		chr1	TogoVar
RNF26_chr11_119329527_119342309	119336835	CATTTGGG others(37): Show CATTTGGGTGTTTTGGCAACTCAGGGGCCTTCGGATGATCTTAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0000 a0001c0001t0013g0000	1	420	0.0024	-44	c.41 others(53): Show c.412_*455delATTTGGGTGTTTTGGCAACTCAGGGGCCTTCGGATG ATCTTAAA	RNF26	ENSG00000173456.5	transcript	ENST00000311413.5	protein_coding	1/1	412		chr11	TogoVar
RNF38_chr9_36331400_36405269	36341793	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02647.hp1 others(3): Show HG02258.hp2 HG02572.hp2 HG02647.hp1 HG02896.hp1 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0005 a0001c0001t0004 a0001c0003t0005	a0001c0001t0004g0031 a0001c0001t0004g0033 a0001c0001t0004g0036 others(3): Show a0001c0001t0004g0031 a0001c0001t0004g0033 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0003t0005g0027	6	377	0.0159	-44	c.148 others(61): Show c.1485+488_1485+531delATATATATATATATATATATATATATAT ATATATATATATATAT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11			chr9	TogoVar
RNF38_chr9_36331400_36405269	36341823	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0077 a0001c0001t0015g0077	1	400	0.0025	-44	c.148 others(61): Show c.1485+458_1485+501delTTATATATATATATATATATATATATAT ATATATATATATATAT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11			chr9	TogoVar
RNGTT_chr6_88604897_88968618	88698125	TACATATA others(37): Show TACATATATATGATATATATATGAAATACATATGATATATATGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01069.hp1 others(30): Show HG00099.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01258.hp2 HG01515.hp1 HG02056.hp1 HG02074.hp1 HG02523.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG03017.hp2 HG03688.hp1 HG03710.hp2 HG04115.hp2 NA18944.hp2 NA18945.hp1 NA18956.hp2 NA18960.hp2 NA18965.hp1 NA18983.hp1 NA19001.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19063.hp2 NA19072.hp2 NA19082.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0156 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0141 a0001c0001t0003g0218	33	167	0.1976	-44	c.144 others(65): Show c.1440-19750_1440-19707delGTCATATATATCATATGTATTTCA TATATATATCATATATATGT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	78711344	CTTCCTCC others(37): Show CTTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0015 a0002c0004t0001g0015	1	43	0.0233	-44	c.104 others(63): Show c.1045+3009_1045+3052delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAGGAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77200263	TATTTTAT others(37): Show TATTTTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02970.hp2 others(5): Show HG02630.hp2 HG02922.hp2 HG02970.hp2 HG03225.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0028 a0001c0001t0037 a0001c0002t0001 a0001c0006t0001 a0007c0013t0003	a0001c0001t0001g0146 a0001c0001t0002g0106 a0001c0001t0021g0016 others(5): Show a0001c0001t0001g0146 a0001c0001t0002g0106 a0001c0001t0021g0016 a0001c0001t0028g0084 a0001c0001t0037g0011 a0001c0002t0001g0138 a0001c0006t0001g0005 a0007c0013t0003g0147	8	160	0.0500	-44	c.388 others(65): Show c.388+101924_388+101967delATTTTATATATATATATATATATA TATATATATATATATATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			chr3	TogoVar
RORB_chr9_74492335_74698177	74549535	GGGAGGGA others(37): Show GGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	181	0.0055	-44	c.7+5 others(59): Show c.7+51556_7+51599delGGGAGGGAGGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGA	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RORB_chr9_74492335_74698177	74549539	GGGAGGGA others(37): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01070.hp1 others(13): Show HG00323.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01261.hp1 HG01517.hp2 HG02080.hp2 HG02258.hp1 HG02572.hp2 HG02647.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0024 a0001c0001t0026 a0001c0001t0054	a0001c0001t0001g0067 a0001c0001t0001g0120 a0001c0001t0001g0134 others(13): Show a0001c0001t0001g0067 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0178 a0001c0001t0003g0152 a0001c0001t0004g0058 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0209 a0001c0001t0010g0160 a0001c0001t0024g0176 a0001c0001t0026g0186 a0001c0001t0054g0163	16	142	0.1127	-44	c.7+5 others(59): Show c.7+51560_7+51603delGGGAGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGA	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
ROS1_chr6_117282353_117430942	117326086	TAAGATTA others(37): Show TAAGATTATATATATATATATATATATATATATATATATATAGTC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02647.hp1 HG02895.hp1 others(8): Show HG02074.hp2 HG02647.hp1 HG02895.hp1 HG03195.hp1 HG03688.hp2 NA18522.hp1 NA18948.hp1 NA18975.hp2 NA19012.hp2 NA19064.hp1 NA19065.hp1	a0011 a0022 a0033 others(4): Show a0011 a0022 a0033 a0034 a0037 a0038 a0040	a0011c0015 a0022c0039 a0033c0053 others(4): Show a0011c0015 a0022c0039 a0033c0053 a0034c0073 a0037c0056 a0038c0049 a0040c0032	a0011c0015t0001 a0011c0015t0002 a0022c0039t0001 others(5): Show a0011c0015t0001 a0011c0015t0002 a0022c0039t0001 a0033c0053t0009 a0034c0073t0006 a0037c0056t0002 a0038c0049t0002 a0040c0032t0005	a0011c0015t0001g0189 a0011c0015t0001g0192 a0011c0015t0002g0165 others(8): Show a0011c0015t0001g0189 a0011c0015t0001g0192 a0011c0015t0002g0165 a0011c0015t0002g0187 a0011c0015t0002g0188 a0022c0039t0001g0228 a0033c0053t0009g0279 a0034c0073t0006g0015 a0037c0056t0002g0096 a0038c0049t0002g0121 a0040c0032t0005g0223	11	320	0.0344	-44	c.553 others(60): Show c.5539+94_5539+137delGACTATATATATATATATATATATATATA TATATATATAATCTT	ROS1	ENSG00000047936.11	transcript	ENST00000368507.8	protein_coding	34/43			chr6	TogoVar
RPH3AL_chr17_207389_357807	300520	CTAGACCT others(37): Show CTAGACCTGCAGAATCTCTCACCCGGTCTAGCAGGGGCTGGCCCA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01361.hp1 HG01496.hp1 others(14): Show HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01978.hp2 HG02055.hp1 HG02559.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG03453.hp1 HG03831.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA19074.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0018 a0001c0003t0028 a0001c0004t0001 a0002c0012t0005	a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0003g0096 others(14): Show a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0003g0096 a0001c0001t0004g0039 a0001c0001t0005g0017 a0001c0001t0010g0015 a0001c0001t0010g0131 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0073 a0001c0002t0003g0090 a0001c0003t0001g0068 a0001c0003t0002g0059 a0001c0003t0018g0019 a0001c0003t0028g0088 a0001c0004t0001g0086 a0002c0012t0005g0020	17	132	0.1288	-44	c.352 others(63): Show c.352-18710_352-18667delTGGGCCAGCCCCTGCTAGACCGGGTG AGAGATTCTGCAGGTCTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS16_chr19_39428137_39440949	39429585	GCAGTGGT others(37): Show GCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCGCTGGAGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02165.hp1 HG03579.hp2 others(3): Show HG02074.hp1 HG02165.hp1 HG03579.hp2 NA18963.hp2 NA19012.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0001	6	408	0.0147	-44	c.36 others(55): Show c.3644_*3687delAACTCCAGCGGCAGAGGTTGCAGTGAGCCAAGAT CGCACCACTG	RPS16	ENSG00000105193.9	transcript	ENST00000251453.8	protein_coding		3551		chr19	TogoVar
RPS6KA2_chr6_166404364_166632251	166467194	ACTCACTC others(37): Show ACTCACTCATTCATTCACTCCCTCACTCATTCACTCCCTCCTTCC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01074.hp1 HG01081.hp1 others(22): Show HG00609.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01192.hp1 HG01358.hp1 HG01361.hp1 HG02257.hp1 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG02970.hp2 HG03195.hp2 HG03492.hp1 HG03834.hp1 NA18522.hp1 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18979.hp1 NA19009.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(13): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0020 a0001c0021 a0001c0024 a0001c0039 a0001c0041 a0001c0046 a0001c0055 a0001c0056 a0001c0061	a0001c0001t0001 a0001c0001t0011 a0001c0001t0035 others(18): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0035 a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0006t0037 a0001c0010t0005 a0001c0011t0003 a0001c0012t0002 a0001c0014t0038 a0001c0020t0001 a0001c0021t0002 a0001c0021t0009 a0001c0024t0001 a0001c0039t0003 a0001c0041t0004 a0001c0046t0004 a0001c0055t0007 a0001c0056t0001 a0001c0061t0015	a0001c0001t0001g0098 a0001c0001t0001g0137 a0001c0001t0011g0011 others(22): Show a0001c0001t0001g0098 a0001c0001t0001g0137 a0001c0001t0011g0011 a0001c0001t0035g0066 a0001c0002t0002g0157 a0001c0002t0007g0129 a0001c0002t0009g0165 a0001c0006t0037g0074 a0001c0010t0005g0199 a0001c0011t0003g0099 a0001c0012t0002g0032 a0001c0014t0038g0069 a0001c0020t0001g0114 a0001c0020t0001g0140 a0001c0020t0001g0230 a0001c0021t0002g0158 a0001c0021t0009g0147 a0001c0021t0009g0148 a0001c0024t0001g0040 a0001c0039t0003g0059 a0001c0041t0004g0056 a0001c0046t0004g0228 a0001c0055t0007g0126 a0001c0056t0001g0155 a0001c0061t0015g0073	25	242	0.1033	-44	c.972 others(61): Show c.972+2603_972+2646delGGAAGGAGGGAGTGAATGAGTGAGGGAG TGAATGAATGAGTGAG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	11/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166510552	CTCATATA others(37): Show CTCATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0014 a0001c0042t0014	a0001c0042t0014g0043 a0001c0042t0014g0043	1	216	0.0046	-44	c.299 others(59): Show c.299-239_299-196delATATATATATATATATATATATATATATAT ATATATATATATGA	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	3/20			chr6	TogoVar
RPS6KA3_chrX_20144911_20271909	20268770	ATGGGGCC others(37): Show ATGGGGCCACTTGGCTCTTGCCTTTGTCACTTCCCTTCACATGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0145 a0001c0001t0024g0145	1	210	0.0048	-44	c.-21 others(55): Show c.-2182_-2139delAGCATGTGAAGGGAAGTGACAAAGGCAAGAGCCA AGTGGCCCCA	RPS6KA3	ENSG00000177189.14	transcript	ENST00000379565.9	protein_coding		1862		chrX	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG01123.hp2 others(1): Show HG00408.hp1 HG00438.hp2 HG01123.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0162 a0001c0001t0001g0189 others(1): Show a0001c0001t0001g0118 a0001c0001t0001g0162 a0001c0001t0001g0189 a0001c0001t0001g0192	4	6	0.6667	-44	c.142 others(61): Show c.142-1320_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KC1_chr1_213046241_213279774	213119425	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp2 HG01070.hp1 others(20): Show HG00558.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG01891.hp2 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02145.hp1 HG02300.hp2 HG02897.hp2 HG03516.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18998.hp2 NA19030.hp2 NA19054.hp2 NA19057.hp2 NA19084.hp2 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0032 others(20): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0292 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0007g0230 a0001c0001t0013g0231	23	101	0.2277	-44	c.472 others(61): Show c.472+2046_472+2089delATATATATATATATATATATATATATAT ATATATATATATATAT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RRAGB_chrX_55712749_55763774	55740338	ATTGTGAT others(37): Show ATTGTGATTTTGAACCATGAATTTTAAATCATTATGACTAGGCTC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	274	0.0036	-44	c.516 others(61): Show c.516+8753_516+8796delTTGTGATTTTGAACCATGAATTTTAAAT CATTATGACTAGGCTC	RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9			chrX	TogoVar
RSPH14_chr22_23054415_23146990	23130059	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp2 HG01516.hp2 others(8): Show HG01081.hp1 HG01175.hp2 HG01516.hp2 HG01517.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02647.hp2 NA18981.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0168 a0001c0001t0001g0212 others(8): Show a0001c0001t0001g0152 a0001c0001t0001g0168 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0304	11	165	0.0667	-44	c.421 others(61): Show c.421+3923_421+3966delCTTTCTTTCTTTCTTTCTTCCTTTCTTT CTTTCTTTCTTTCTTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPO4_chr20_953452_1007311	959083	GAGTGTGG others(37): Show GAGTGTGGTGGTGGGTGTGGGGGAGTGTGGTGGTGGGTGTGGGGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	374	0.0027	-44	c.12 others(55): Show c.1230_*1273delGCCCCACACCCACCACCACACTCCCCCACACCCA CCACCACACT	RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding	5/5	1230		chr20	TogoVar
RSPO4_chr20_953452_1007311	985016	CATCCATC others(37): Show CATCCATCCACCAACCCATCTATCCATCCAATCACCCACCCATCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(193): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0008	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0005c0006 a0006c0008 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0003t0005 a0001c0003t0010 a0001c0003t0017 a0002c0002t0005 a0002c0002t0012 a0002c0002t0018 a0003c0004t0057 a0005c0006t0003 a0006c0008t0005 a0008c0007t0046	a0001c0001t0001g0059 a0001c0001t0001g0142 a0001c0001t0001g0162 others(153): Show a0001c0001t0001g0059 a0001c0001t0001g0142 a0001c0001t0001g0162 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0229 a0001c0001t0002g0262 a0001c0001t0003g0004 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0004g0040 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0231 a0001c0001t0005g0038 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0268 a0001c0001t0005g0289 a0001c0001t0006g0141 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0008g0060 a0001c0001t0009g0011 a0001c0001t0009g0266 a0001c0001t0009g0279 a0001c0001t0009g0281 a0001c0001t0009g0284 a0001c0001t0010g0247 a0001c0001t0010g0270 a0001c0001t0010g0271 a0001c0001t0010g0276 a0001c0001t0010g0277 a0001c0001t0010g0282 a0001c0001t0011g0013 a0001c0001t0011g0194 a0001c0001t0011g0196 a0001c0001t0011g0214 a0001c0001t0011g0221 a0001c0001t0013g0010 a0001c0001t0013g0201 a0001c0001t0013g0254 a0001c0001t0014g0167 a0001c0001t0014g0259 a0001c0001t0014g0267 a0001c0001t0014g0274 a0001c0001t0014g0278 a0001c0001t0014g0287 a0001c0001t0015g0052 a0001c0001t0015g0053 a0001c0001t0015g0135 a0001c0001t0015g0159 a0001c0001t0016g0033 a0001c0001t0016g0170 a0001c0001t0016g0179 a0001c0001t0016g0222 a0001c0001t0017g0054 a0001c0001t0021g0239 a0001c0001t0021g0240 a0001c0001t0021g0245 a0001c0001t0022g0294 a0001c0001t0022g0295 a0001c0001t0022g0296 a0001c0001t0023g0016 a0001c0001t0024g0051 a0001c0001t0024g0055 a0001c0001t0025g0164 a0001c0001t0025g0165 a0001c0001t0026g0041 a0001c0001t0029g0042 a0001c0001t0030g0044 a0001c0001t0032g0058 a0001c0001t0033g0049 a0001c0001t0039g0112 a0001c0001t0040g0285 a0001c0001t0041g0269 a0001c0001t0042g0257 a0001c0001t0043g0264 a0001c0001t0044g0263 a0001c0001t0045g0248 a0001c0001t0047g0286 a0001c0001t0048g0275 a0001c0001t0049g0166 a0001c0001t0050g0232 a0001c0001t0051g0163 a0001c0001t0053g0181 a0001c0001t0055g0226 a0001c0001t0056g0227 a0001c0001t0058g0292 a0001c0003t0005g0039 a0001c0003t0005g0280 a0001c0003t0010g0244 a0001c0003t0017g0048 a0002c0002t0005g0272 a0002c0002t0012g0014 a0002c0002t0012g0015 a0002c0002t0012g0056 a0002c0002t0018g0026 a0002c0002t0018g0133 a0002c0002t0018g0160 a0003c0004t0057g0273 a0005c0006t0003g0171 a0006c0008t0005g0187 a0008c0007t0046g0283	196	374	0.5241	-44	c.80- others(61): Show c.80-16922_80-16879delAGATGGGTGGGTGATTGGATGGATAGAT GGGTTGGTGGATGGAT	RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding	1/4			chr20	TogoVar
RSPRY1_chr16_57181329_57245469	57197923	GCTACATT others(37): Show GCTACATTACCCAAGCTGGTCTCAGCCTCCTGGGCTCAAGCAATC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00621.hp1 others(56): Show HG00280.hp1 HG00558.hp1 HG00621.hp1 HG01070.hp2 HG01255.hp1 HG01515.hp1 HG02015.hp1 HG02145.hp2 HG02165.hp1 HG02523.hp2 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18948.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18981.hp1 NA18985.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19057.hp2 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0011 others(50): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0153 a0001c0001t0006g0135 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0013g0011 a0001c0001t0013g0306 a0001c0001t0014g0003 a0001c0001t0014g0012 a0001c0001t0016g0137 a0001c0001t0021g0152 a0001c0001t0024g0012	59	356	0.1657	-44	c.-15 others(63): Show c.-155-6578_-155-6535delACATTACCCAAGCTGGTCTCAGCCTC CTGGGCTCAAGCAATCCT	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSU1_chr10_16585611_16822424	16645964	GTGTATAT others(37): Show GTGTATATATATGTGTATATACATATATGTGTATATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	185	0.0054	-44	c.731 others(63): Show c.731+49015_731+49058delTACACATATATATACACATATATGTA TATACACATATATATACA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RUNX1_chr21_34782801_35054302	34993634	GACACACA others(37): Show GACACACACAGGCACACACACACAGACACACAGAGACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02615.hp2 others(6): Show HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp2 HG02970.hp1 HG03225.hp2 HG03453.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0025 a0001c0001t0028 others(3): Show a0001c0001t0001 a0001c0001t0025 a0001c0001t0028 a0001c0002t0006 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0072 a0001c0001t0001g0113 a0001c0001t0001g0147 others(6): Show a0001c0001t0001g0072 a0001c0001t0001g0113 a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0025g0116 a0001c0001t0028g0138 a0001c0002t0006g0111 a0001c0003t0001g0011 a0001c0007t0001g0156	9	168	0.0536	-44	c.58+ others(61): Show c.58+55164_58+55207delGTGTGTGTGTCTCTGTGTGTCTGTGTGT GTGTGCCTGTGTGTGT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0029 a0001c0018t0029	a0001c0018t0029g0041 a0001c0018t0029g0041	1	17	0.0588	-44	c.576 others(61): Show c.576+2944_576+2987delTATATATATATATATATATATATATATA TATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(37): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00597.hp2 others(16): Show HG00140.hp1 HG00597.hp1 HG00597.hp2 HG00733.hp1 HG00735.hp1 HG01099.hp1 HG01175.hp2 HG01346.hp1 HG01515.hp1 HG01978.hp2 HG02055.hp2 HG02080.hp1 HG02615.hp2 HG02735.hp2 HG03017.hp1 HG03098.hp1 HG03239.hp2 HG03710.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0036 a0001c0001t0073 a0001c0001t0080 a0001c0002t0003 a0001c0002t0005	a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0002g0150 others(16): Show a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0172 a0001c0001t0002g0190 a0001c0001t0003g0170 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0248 a0001c0001t0006g0221 a0001c0001t0010g0015 a0001c0001t0011g0160 a0001c0001t0015g0195 a0001c0001t0036g0022 a0001c0001t0073g0134 a0001c0001t0080g0165 a0001c0002t0003g0123 a0001c0002t0005g0043	19	56	0.3393	-44	c.197 others(63): Show c.197-23589_197-23546delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SASH1_chr6_148337838_148557044	148387560	TCTTTTCT others(37): Show TCTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0248 a0002c0002t0007g0248	1	320	0.0031	-44	c.157 others(61): Show c.157-2573_157-2530delCTTTTCTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01358.hp2 HG01516.hp1 others(13): Show HG01243.hp2 HG01358.hp2 HG01516.hp1 HG01884.hp2 HG02055.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02976.hp1 HG03139.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0006c0022	a0001c0001t0002 a0001c0001t0009 a0001c0003t0005 others(11): Show a0001c0001t0002 a0001c0001t0009 a0001c0003t0005 a0001c0003t0012 a0001c0003t0026 a0001c0007t0005 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 a0002c0002t0018 a0002c0004t0005 a0002c0004t0011 a0006c0022t0002	a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0009g0166 others(13): Show a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0009g0166 a0001c0001t0009g0173 a0001c0003t0005g0103 a0001c0003t0012g0276 a0001c0003t0026g0284 a0001c0007t0005g0322 a0002c0002t0002g0168 a0002c0002t0003g0227 a0002c0002t0004g0022 a0002c0002t0015g0312 a0002c0002t0018g0126 a0002c0004t0005g0271 a0002c0004t0011g0273 a0006c0022t0002g0028	16	134	0.1194	-44	c.157 others(61): Show c.157-2485_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SATL1_chrX_85087284_85248779	85156813	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	10	0.1000	-44	c.-31 others(65): Show c.-312-47577_-312-47534delTATATATATATATATATATATATA TATATATATATATATATATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBNO2_chr19_1102638_1179268	1146761	TGAGGGTG others(37): Show TGAGGGTGGGGGTGGGGTCCGCCTGATGCCGAAGGGGGAGGCTGG	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0086 a0002c0003t0001g0086	1	202	0.0050	-44	c.279 others(59): Show c.279+504_279+547delCCAGCCTCCCCCTTCGGCATCAGGCGGACC CCACCCCCACCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCARA5_chr8_27864883_27997673	27865577	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG03130.hp1 HG01891.hp1 HG02630.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0024 a0001c0001t0024 a0001c0002t0024	a0001c0001t0024g0131 a0001c0001t0024g0133 a0001c0002t0024g0121 a0001c0001t0024g0131 a0001c0001t0024g0133 a0001c0002t0024g0121	3	12	0.2500	-44	c.63 others(55): Show c.6313_*6356delTATATATATATATATATATATATATATATATATA TATATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4305		chr8	TogoVar
SCCPDH_chr1_246719409_246773137	246764930	GGTATAAT others(37): Show GGTATAATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	408	0.0025	-44	c.110 others(61): Show c.1102+617_1102+660delAGTATAATTACTGTCAGAGACAGACAGG TCCACTTGTGAACTGT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCCPDH_chr1_246719409_246773137	246764974	AGTATAAT others(37): Show AGTATAATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG01433.hp2 others(5): Show HG00735.hp1 HG01175.hp1 HG01433.hp2 HG02559.hp1 HG02572.hp2 HG03195.hp2 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0134 a0001c0001t0006g0028 a0001c0001t0006g0029 others(3): Show a0001c0001t0001g0134 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0059 a0001c0001t0006g0062 a0001c0001t0006g0063	8	115	0.0696	-44	c.110 others(61): Show c.1102+837_1103-821delGGTATAATTACTGTCAGAGACAGACAGG TCCACTTGTGAACTGT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCD5_chr4_82624539_82803796	82712243	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02976.hp1 HG03225.hp2 others(3): Show HG01109.hp2 HG02976.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0030	a0001c0001t0002g0042 a0001c0001t0002g0080 a0001c0001t0005g0077 others(3): Show a0001c0001t0002g0042 a0001c0001t0002g0080 a0001c0001t0005g0077 a0001c0001t0012g0092 a0001c0001t0012g0181 a0001c0001t0030g0203	6	93	0.0645	-44	c.233 others(61): Show c.233-6874_233-6831delATATATATATATATATATATATATATAT ATATATATATATATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77531009	ATATTTGC others(37): Show ATATTTGCAGTGTGGCTCATGATTGTCTCCAGAAAATGTGGACCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	354	0.0028	-44	c.-48 others(55): Show c.-4834_-4791delTATTTGCAGTGTGGCTCATGATTGTCTCCAGAAA ATGTGGACCC	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding		4696		chr13	TogoVar
SCHIP1_chr3_159268244_159902359	159704864	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03579.hp2 HG01243.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0087 a0001c0004t0001g0018 a0001c0001t0001g0087 a0001c0004t0001g0018	2	74	0.0270	-44	c.64- others(61): Show c.64-59546_64-59503delTTTCTTTCTTTATTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159704900	CTTTCTTT others(37): Show CTTTCTTTATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	88	0.0114	-44	c.64- others(61): Show c.64-59542_64-59499delTTTCTTTATTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCCTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159828388	CATATATA others(37): Show CATATATACGTATATATATACGTATATATACGTATATATATACGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp1 HG02922.hp2 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0034 a0002c0003t0001g0091 a0002c0003t0001g0034 a0002c0003t0001g0091	2	51	0.0392	-44	c.760 others(63): Show c.760-37745_760-37702delCGTATATATATACGTATATATACGTA TATATATACGTATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938522	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0053 a0001c0002t0004g0053	1	297	0.0034	-44	c.488 others(61): Show c.488+6845_488+6888delAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963380	TATATATG others(37): Show TATATATGATGGAGATATATATATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	312	0.0032	-44	c.-27 others(63): Show c.-279-3001_-279-2958delCTCCATCATATATATATATATATATA TATATCTCCATCATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCT_chr11_621309_632181	628919	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03453.hp1 HG02896.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	2	406	0.0049	-44	c.-18 others(55): Show c.-1820_-1777delGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1739		chr11	TogoVar
SCT_chr11_621309_632181	628921	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(68): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02109.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18967.hp2 NA19000.hp2 NA19043.hp2 NA19070.hp1 NA19084.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	71	402	0.1766	-44	c.-18 others(55): Show c.-1822_-1779delAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1741		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43280875	TGTCACCT others(37): Show TGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp1 HG02080.hp1 others(7): Show HG00597.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02165.hp1 HG03492.hp1 NA19002.hp1 NA19005.hp1 NA19065.hp2 NA19066.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0012	a0001c0035 a0002c0002 a0002c0005 others(2): Show a0001c0035 a0002c0002 a0002c0005 a0006c0015 a0012c0032	a0001c0035t0005 a0002c0002t0002 a0002c0002t0007 others(3): Show a0001c0035t0005 a0002c0002t0002 a0002c0002t0007 a0002c0005t0001 a0006c0015t0007 a0012c0032t0002	a0001c0035t0005g0208 a0002c0002t0002g0035 a0002c0002t0002g0083 others(7): Show a0001c0035t0005g0208 a0002c0002t0002g0035 a0002c0002t0002g0083 a0002c0002t0002g0103 a0002c0002t0002g0249 a0002c0002t0007g0048 a0002c0005t0001g0059 a0006c0015t0007g0026 a0006c0015t0007g0069 a0012c0032t0002g0019	10	276	0.0362	-44	c.484 others(63): Show c.484+10127_484+10170delGTAGCTGAGGAGGAGATGACAGAAGG GTGGCCAAGGGAGGTGAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280876	GTCACCTC others(37): Show GTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACC	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0115 a0002c0002t0002g0115	1	278	0.0036	-44	c.484 others(63): Show c.484+10126_484+10169delGGTAGCTGAGGAGGAGATGACAGAAG GGTGGCCAAGGGAGGTGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280995	CTGTCACC others(37): Show CTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02109.hp2 HG02559.hp1 others(5): Show HG02074.hp1 HG02109.hp2 HG02559.hp1 HG02559.hp2 HG02886.hp1 HG06807.hp1 NA19002.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0012 a0002c0002 others(2): Show a0001c0004 a0001c0012 a0002c0002 a0002c0009 a0002c0014	a0001c0004t0005 a0001c0012t0090 a0002c0002t0002 others(4): Show a0001c0004t0005 a0001c0012t0090 a0002c0002t0002 a0002c0002t0029 a0002c0009t0024 a0002c0014t0025 a0002c0014t0072	a0001c0004t0005g0232 a0001c0012t0090g0277 a0002c0002t0002g0083 others(5): Show a0001c0004t0005g0232 a0001c0012t0090g0277 a0002c0002t0002g0083 a0002c0002t0002g0223 a0002c0002t0029g0007 a0002c0009t0024g0259 a0002c0014t0025g0129 a0002c0014t0072g0260	8	274	0.0292	-44	c.484 others(63): Show c.484+10007_484+10050delTAGCTGAGGAGGAGATGACAGAAGGG TGGCCAAGGGAGGTGACA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar

Search by Variant

Search

Search Results