Joint Open Genome and Omics Platform (JoGo)

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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
RPTOR_chr17_80539838_80971368	80889806	A A	AAGGGAGG others(31): Show AAGGGAGGCCCCCGTACGCAGCAGTATGTGCGGCCTCCG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01261.hp1 others(6): Show HG01167.hp1 HG01169.hp2 HG01261.hp1 HG02559.hp1 HG02630.hp2 HG02723.hp1 HG02895.hp1 HG02970.hp1 HG03130.hp1	a0001 a0001	a0001c0020 a0001c0021 a0001c0050 others(2): Show a0001c0020 a0001c0021 a0001c0050 a0001c0064 a0001c0079	a0001c0020t0048 a0001c0020t0064 a0001c0020t0093 others(6): Show a0001c0020t0048 a0001c0020t0064 a0001c0020t0093 a0001c0021t0018 a0001c0021t0065 a0001c0021t0079 a0001c0050t0006 a0001c0064t0005 a0001c0079t0050	a0001c0020t0048g0097 a0001c0020t0064g0193 a0001c0020t0093g0034 others(6): Show a0001c0020t0048g0097 a0001c0020t0064g0193 a0001c0020t0093g0034 a0001c0021t0018g0014 a0001c0021t0065g0112 a0001c0021t0079g0006 a0001c0050t0006g0147 a0001c0064t0005g0074 a0001c0079t0050g0100	9	101	0.0891	38	c.198 others(57): Show c.1984-1891_1984-1890insTATGTGCGGCCTCCGAGGGAGGCCCC CGTACGCAGCAG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	17/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18949.hp1 NA19060.hp2 others(2): Show HG02451.hp1 NA18949.hp1 NA19060.hp2 NA19064.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0022 a0001c0001t0002 a0001c0001t0016 a0001c0001t0022	a0001c0001t0002g0117 a0001c0001t0002g0130 a0001c0001t0002g0148 others(2): Show a0001c0001t0002g0117 a0001c0001t0002g0130 a0001c0001t0002g0148 a0001c0001t0016g0276 a0001c0001t0022g0311	5	115	0.0435	38	c.445 others(55): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT ATATATATAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RRP12_chr10_97351701_97406340	97398024	T T	TATATATA others(31): Show TATATATACATATATATATATATATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0199 a0001c0011t0001g0199	1	398	0.0025	38	c.370 others(55): Show c.370-1724_370-1723insGTATATGTATATATATATATATATATAT ATGTATATAT	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
RRP7A_chr22_42503344_42524796	42509848	G G	GGTGTGTG others(31): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 NA19075.hp1 HG00544.hp2 NA19075.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0028 a0002c0001t0028	a0002c0001t0028g0086 a0002c0001t0028g0108 a0002c0001t0028g0086 a0002c0001t0028g0108	2	352	0.0057	38	c.30 others(49): Show c.3061_*3062insACACACACACACACACACACACACACACACACAC ACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3061		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGTGTG others(31): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 NA18986.hp2 HG00438.hp2 NA18986.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0087 a0002c0001t0029g0102 a0002c0001t0029g0087 a0002c0001t0029g0102	2	130	0.0154	38	c.30 others(49): Show c.3059_*3060insACACACACACACACACACACACACACACACACAC ACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSPH14_chr22_23054415_23146990	23130496	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG00738.hp1 others(12): Show HG00544.hp1 HG00673.hp1 HG00738.hp1 HG01175.hp1 HG01891.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02293.hp2 HG03209.hp1 HG03453.hp1 NA18947.hp2 NA19002.hp2 NA19056.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0004t0001 a0004c0006t0002	a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0282 others(12): Show a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0002t0001g0071 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0132 a0001c0002t0001g0144 a0002c0003t0001g0116 a0003c0004t0001g0011 a0004c0006t0002g0015	15	26	0.5769	38	c.421 others(55): Show c.421+3529_421+3530insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPH1_chr21_42467486_42501224	42474763	A A	ACAGCGCT others(31): Show ACAGCGCTCAGGGGAATTACCGATCACGAAAGTCTATGC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG06807.hp2 NA19043.hp1 others(2): Show HG02523.hp2 HG06807.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0056 a0001c0001t0001g0255 a0001c0001t0002g0243 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0255 a0001c0001t0002g0243 a0001c0001t0002g0294 a0001c0001t0002g0295	5	395	0.0127	38	c.877 others(55): Show c.877+1097_877+1134dupGCATAGACTTTCGTGATCGGTAATTCCC CTGAGCGCTG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	8/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42474789	C C	CGAAAGTC others(31): Show CGAAAGTCTATGCCAGCGCTCAGGGGAATTACCGATCAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02055.hp1 HG03195.hp2 HG01167.hp1 HG02055.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0004t0001g0356 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0004t0001g0356	3	401	0.0075	38	c.877 others(55): Show c.877+1108_877+1109insATGATCGGTAATTCCCCTGAGCGCTGGC ATAGACTTTC	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	8/8			chr21	TogoVar
RSRC1_chr3_158105089_158550730	158106571	C C	CAGAGAGA others(31): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	43	0.0233	38	c.-36 others(49): Show c.-3655_-3654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3517		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03831.hp1 NA18977.hp2 HG02647.hp1 HG03831.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013	a0001c0001t0007g0203 a0001c0001t0011g0209 a0001c0001t0013g0001 a0001c0001t0007g0203 a0001c0001t0011g0209 a0001c0001t0013g0001	3	80	0.0375	38	c.321 others(53): Show c.321-491_321-490insATATATATATATATATATATATATATATAT ATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18946.hp1 NA18962.hp2 others(3): Show HG02074.hp1 NA18946.hp1 NA18962.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015	a0001c0001t0001g0066 a0001c0001t0001g0177 a0001c0001t0005g0065 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0177 a0001c0001t0005g0065 a0001c0001t0008g0072 a0001c0001t0008g0090 a0001c0001t0015g0088	6	83	0.0723	38	c.321 others(53): Show c.321-509_321-508insTTATATATATATATATATATATATATATAT ATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp1 HG02572.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0007 a0001c0001t0013g0019 a0001c0001t0002g0007 a0001c0001t0013g0019	2	22	0.0909	38	c.652 others(57): Show c.652+16824_652+16825insATATATATATATATATATATATATAT ATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02257.hp2 HG03225.hp1 others(3): Show HG00408.hp2 HG02257.hp2 HG03225.hp1 NA18970.hp1 NA19062.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0248 others(3): Show a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0004g0078 a0001c0001t0004g0199	6	26	0.2308	38	c.652 others(57): Show c.652+16796_652+16797insTTATATATATATATATATATATATAT ATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(31): Show ACATATATATGTGTGTGTATATACATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	161	0.0062	38	c.731 others(57): Show c.731+49076_731+49077insTATATATACATATATGTATATACACA CACATATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RTL8A_chrX_135045932_135057135	135055284	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	177	0.0056	38	c.-31 others(49): Show c.-3177_-3176insATATATATATATATATATATATATATATATATAT TTTT	RTL8A	ENSG00000203950.7	transcript	ENST00000370775.3	protein_coding		3150		chrX	TogoVar
RTN1_chr14_59590983_59875776	59606103	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	103	0.0097	38	c.197 others(55): Show c.1974-598_1974-597insATATATATATATATATATATATATATAT ATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59606125	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	137	0.0073	38	c.197 others(55): Show c.1974-620_1974-619insTTATATATATATATATATATATATATAT ATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTP5_chr2_241864729_241878823	241873420	G G	GCCCCGCC others(31): Show GCCCCGCCCCCCGCCTCCGAGACCCCGCTCACCTCCGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0023 a0023	a0023c0026 a0023c0026	a0023c0026t0025 a0023c0026t0025	a0023c0026t0025g0002 a0023c0026t0025g0002	1	141	0.0071	38	c.14 others(47): Show c.146_*147insCCCCGCCCCCCGCCTCCGAGACCCCGCTCACCTCCG AC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	147		chr2	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(31): Show CCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01099.hp1 others(10): Show HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02886.hp1 HG02976.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp2 HG04204.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0011t0002	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0207 others(10): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0207 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0140 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0002t0002g0027 a0001c0011t0002g0007	13	187	0.0695	38	c.-34 others(45): Show c.-34_-33insCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
RUFY2_chr10_68338408_68412277	68359358	G G	GTATACAT others(31): Show GTATACATATACGTATATATGTGTGTATATATACGTATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00621.hp1 others(33): Show HG00099.hp1 HG00423.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG01243.hp2 HG01361.hp2 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02148.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp1 HG03017.hp1 HG03491.hp1 HG03710.hp2 HG04199.hp2 NA18941.hp2 NA18956.hp1 NA18964.hp1 NA18968.hp1 NA18971.hp2 NA18982.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18999.hp1 NA19009.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0031	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 others(33): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0001t0005g0152 a0001c0001t0009g0159 a0001c0001t0031g0100	36	273	0.1319	38	c.155 others(57): Show c.1551-3995_1551-3958dupTATACGTATATATACACACATATATA CGTATATGTATA	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	15/17			chr10	TogoVar
RUFY2_chr10_68338408_68412277	68359406	A A	ACGTATAT others(31): Show ACGTATATATGTGTGTATATATACGTATATATACATATG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03688.hp1 HG04204.hp2 others(1): Show HG01952.hp2 HG03688.hp1 HG04204.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0131 a0001c0001t0001g0144	4	274	0.0146	38	c.155 others(57): Show c.1551-4006_1551-4005insCATATGTATATATACGTATATATACA CACATATATACG	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	15/17			chr10	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(31): Show ATATATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0027 a0001c0001t0047g0027	1	57	0.0175	38	c.88+ others(55): Show c.88+15411_88+15412insCACACACACACACACATATATATATATA TATATATATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(31): Show ATATATATATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0080 a0001c0002t0080	a0001c0002t0080g0044 a0001c0002t0080g0044	1	57	0.0175	38	c.88+ others(55): Show c.88+15411_88+15412insCACACACACACACACACATATATATATA TATATATATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02559.hp1 HG02027.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0242 a0001c0005t0001g0057 a0001c0001t0001g0242 a0001c0005t0001g0057	2	6	0.3333	38	c.535 others(55): Show c.535-1948_535-1947insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0015 a0006c0020t0001g0015	1	52	0.0192	38	c.774 others(55): Show c.774-8643_774-8642insTATATATATATATATATATATATATATA TATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473446	T T	TTTCTTTC others(31): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0091 a0003c0013t0001g0091	1	98	0.0102	38	c.170 others(57): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTTCTTCTTCT TTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33306076	T T	TGTTAAGC others(31): Show TGTTAAGCAGTTGCGATGTCCGTGGCTTTTATAAACAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0101 a0001c0101	a0001c0101t0001 a0001c0101t0001	a0001c0101t0001g0128 a0001c0101t0001g0128	1	152	0.0066	38	c.-49 others(49): Show c.-4970_-4969insGTTAAGCAGTTGCGATGTCCGTGGCTTTTATAAA CAAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding		4890		chr15	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0121 a0003c0121	a0003c0121t0008 a0003c0121t0008	a0003c0121t0008g0062 a0003c0121t0008g0062	1	68	0.0147	38	c.51+ others(55): Show c.51+68592_51+68593insCTCTCTCTCTCTCTCTCTCTCTATATAT ATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33730113	A A	ATGAATAA others(31): Show ATGAATAATTATTTGTGAATAATTATGAATAATTATTTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 NA20129.hp1 HG02451.hp1 HG02717.hp1 NA20129.hp1	a0028 a0034 a0051 a0028 a0034 a0051	a0028c0114 a0034c0104 a0051c0033 a0028c0114 a0034c0104 a0051c0033	a0028c0114t0003 a0034c0104t0002 a0051c0033t0003 a0028c0114t0003 a0034c0104t0002 a0051c0033t0003	a0028c0114t0003g0011 a0034c0104t0002g0135 a0051c0033t0003g0152 a0028c0114t0003g0011 a0034c0104t0002g0135 a0051c0033t0003g0152	3	55	0.0545	38	c.720 others(57): Show c.7203+1111_7203+1112insTGAATAATTATTTGTGAATAATTATT TGTGAATAATTA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	47/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100Z_chr5_76845014_76926650	76906981	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0137 a0001c0002t0004g0137	1	346	0.0029	38	c.3- others(55): Show c.3-13699_*3-13698insCATATATATATATATATATATATATATA TATATATATA	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76906985	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	345	0.0029	38	c.3- others(55): Show c.3-13695_*3-13694insCATATATATATATATATATATATATATA TATATATATA	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S1PR4_chr19_3173769_3185332	3175440	C C	CCTCATGG others(31): Show CCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	415	0.0024	38	c.-33 others(49): Show c.-3353_-3352insCTCATGGGACGCCTGTGCCCTCATGGGACGCCTG TGTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3328		chr19	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	53	0.0189	38	c.-28 others(49): Show c.-2803_-2802insTATATATATATATATATATATTTTTTTTTTTTTT TTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CTCTTTCT others(31): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	20	0.0500	38	c.25 others(49): Show c.2535_*2536insAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGA AAGA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAPCD1_chr6_31757656_31769850	31765674	C C	CAGCCCTG others(31): Show CAGCCCTGCCTTGAGTCACCAATGTGAAGGGGGAAAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	416	0.0024	38	c.11 others(49): Show c.1143_*1144insAGCCCTGCCTTGAGTCACCAATGTGAAGGGGGAA AAGG	SAPCD1	ENSG00000228727.10	transcript	ENST00000415669.4	protein_coding		825		chr6	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0131 a0001c0001t0006g0131	1	4	0.2500	38	c.-20 others(47): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SARS1_chr1_109208918_109243182	109219262	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	18	0.0556	38	c.137 others(55): Show c.137-4689_137-4688insTATATATATATATATATATATATATATA TATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(31): Show GTGCGCACGCACACACACACATACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0156 a0001c0001t0016g0156	1	241	0.0041	38	c.157 others(57): Show c.157-21366_157-21365insTGCGCACGCACACACACACATACACA CACACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(31): Show GTGCGCACGCGCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0203 a0002c0002t0004g0203	1	241	0.0041	38	c.157 others(57): Show c.157-21366_157-21365insTGCGCACGCGCACACACACACACACA CACACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SATB2_chr2_199264505_199462939	199321507	C C	CACGTATA others(31): Show CACGTATATACACACATATACATATATACATATATGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	252	0.0040	38	c.154 others(57): Show c.1542+2295_1542+2296insACACATATATGTATATATGTATATGT GTGTATATACGT	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	9/10			chr2	TogoVar
SATB2_chr2_199264505_199462939	199355342	G G	GTATCTAT others(31): Show GTATCTATATATATATATATCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0011 a0001c0001t0024g0011	1	111	0.0090	38	c.701 others(55): Show c.701-6170_701-6169insTATATATATATATATATAGATATATATA TATATAGATA	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	6/10			chr2	TogoVar
SAXO1_chr9_18922650_19038209	18938828	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0173 a0003c0003t0009g0173	1	357	0.0028	38	c.421 others(55): Show c.421+2808_421+2809insTACACACACACACACACACACACATACA CACACACACA	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	3/3			chr9	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(31): Show TATATATATATATACACACACACACATATGCATACATAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp1 HG02897.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0010 a0001c0003 a0005c0010	a0001c0003t0002 a0005c0010t0001 a0001c0003t0002 a0005c0010t0001	a0001c0003t0002g0175 a0005c0010t0001g0084 a0005c0010t0001g0174 a0001c0003t0002g0175 a0005c0010t0001g0084 a0005c0010t0001g0174	3	210	0.0143	38	c.139 others(55): Show c.1395+441_1395+442insGTATGTATGCATATGTGTGTGTGTGTAT ATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0163 a0001c0003t0005g0163	1	208	0.0048	38	c.139 others(55): Show c.1395+441_1395+442insGTATATATATATATATATATATATATAT ATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9994577	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0190 a0001c0001t0005g0190	1	139	0.0072	38	c.976 others(53): Show c.976-580_976-579insATATATATATATATATATATATATATATAT ATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	9/39			chr11	TogoVar
SBK2_chr19_55523611_55542133	55536340	A A	AAGGGAGG others(31): Show AAGGGAGGAGGGGACTGGGGGTCTGGACTCCTGGGTCTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03195.hp2 HG03486.hp2 HG01361.hp1 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 a0001c0001t0001 a0001c0001t0002 a0001c0004t0003	a0001c0001t0001g0102 a0001c0001t0002g0226 a0001c0004t0003g0103 a0001c0001t0001g0102 a0001c0001t0002g0226 a0001c0004t0003g0103	3	432	0.0069	38	c.-2- others(49): Show c.-2-82_-2-45dupCAGACCCAGGAGTCCAGACCCCCAGTCCCCTCCT CCCT	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	1/3			chr19	TogoVar
SBK2_chr19_55523611_55542133	55537456	G G	GTCCAGGC others(31): Show GTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	432	0.0023	38	c.-40 others(47): Show c.-406_-405insACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG GA	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		324		chr19	TogoVar
SBK2_chr19_55523611_55542133	55538121	A A	AGGAGGGG others(31): Show AGGAGGGGGTTGAGGACCTGGACTCCTGGGCCTGAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02809.hp1 others(4): Show HG02109.hp1 HG02451.hp1 HG02809.hp1 HG02896.hp1 HG02970.hp1 HG03098.hp2 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0003c0003t0013 a0003c0003t0028	a0001c0001t0003g0215 a0001c0001t0004g0216 a0001c0001t0013g0053 others(3): Show a0001c0001t0003g0215 a0001c0001t0004g0216 a0001c0001t0013g0053 a0001c0001t0013g0081 a0003c0003t0013g0219 a0003c0003t0028g0218	7	432	0.0162	38	c.-10 others(49): Show c.-1071_-1070insACCCTCAGGCCCAGGAGTCCAGGTCCTCAACCCC CTCC	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		989		chr19	TogoVar
SBK3_chr19_55535656_55550543	55536340	A A	AAGGGAGG others(31): Show AAGGGAGGAGGGGACTGGGGGTCTGGACTCCTGGGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG03486.hp1 HG01361.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0005 a0001c0013t0001g0038 a0001c0001t0001g0005 a0001c0013t0001g0038	2	436	0.0046	38	c.44 others(49): Show c.4468_*4505dupCAGACCCAGGAGTCCAGACCCCCAGTCCCCTCCT CCCT	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		4315		chr19	TogoVar
SBK3_chr19_55535656_55550543	55538121	A A	AGGAGGGG others(31): Show AGGAGGGGGTTGAGGACCTGGACTCCTGGGCCTGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02809.hp1 others(4): Show HG02109.hp1 HG02451.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0009 a0001c0001t0001g0045	7	436	0.0161	38	c.27 others(49): Show c.2724_*2725insACCCTCAGGCCCAGGAGTCCAGGTCCTCAACCCC CTCC	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		2534		chr19	TogoVar

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