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
RTN2_chr19_45480294_45502047	45484974	T T	TAGCTGTG others(16): Show TAGCTGTGATTACAGGCATGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	430	0.0023	23	c.73 others(32): Show c.733_*734insGGTGCATGCCTGTAATCACAGCT	RTN2	ENSG00000125744.12	transcript	ENST00000245923.9	protein_coding		319		chr19	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp2 HG02976.hp2 others(2): Show HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03195.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0137 a0002c0002t0001g0138 others(2): Show a0002c0002t0001g0102 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0150 a0002c0002t0001g0163	5	12	0.4167	23	c.142 others(40): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RUFY1_chr5_179545554_179615012	179579657	C C	CTTTTTCT others(16): Show CTTTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	48	0.0208	23	c.891 others(40): Show c.891-1285_891-1284insCTTTTTTTTTTTTTTTTTTTTTT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY1_chr5_179545554_179615012	179579657	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG03209.hp2 HG02055.hp2 HG02886.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0032 a0001c0001t0004g0140 a0001c0001t0004g0028 a0001c0001t0004g0032 a0001c0001t0004g0140	3	50	0.0600	23	c.891 others(40): Show c.891-1268_891-1267insTTTTTTTTTTTTTTTTTTTTTTT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY2_chr10_68338408_68412277	68403644	A A	ACATTTTA others(16): Show ACATTTTAAGAAATTGCTTTAAGT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0046 a0002c0003t0001g0046	1	274	0.0036	23	c.178 others(40): Show c.178+1004_178+1026dupACTTAAAGCAATTTCTTAAAATG	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	2/17			chr10	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	14	0.0714	23	c.59- others(40): Show c.59-74379_59-74357dupTTTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29018096	C C	CGCAATAA others(16): Show CGCAATAACTAGGGAGAGATGATG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	436	0.0023	23	c.67+ others(38): Show c.67+1092_67+1114dupCATCATCTCTCCCTAGTTATTGC	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RXFP1_chr4_158516882_158658372	158527564	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0005 a0003c0003t0001g0006	2	17	0.1176	23	c.49+ others(38): Show c.49+5540_49+5541insAAAAATATATATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	25	0.0400	23	c.49+ others(40): Show c.49+20085_49+20086insATATATATATATATATATTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542110	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	206	0.0049	23	c.49+ others(40): Show c.49+20085_49+20086insATATATATATATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158562523	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0205	1	16	0.0625	23	c.50- others(40): Show c.50-10169_50-10147dupAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158623502	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	45	0.0222	23	c.756 others(40): Show c.756-3316_756-3294dupAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP2_chr13_31734526_31808389	31776102	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02698.hp2 NA18945.hp1 others(5): Show HG01943.hp2 HG02698.hp2 NA18945.hp1 NA18969.hp2 NA19030.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0168 others(5): Show a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0215 a0001c0001t0008g0204	8	82	0.0976	23	c.641 others(38): Show c.641+715_641+716insCTTTCTTTCTTTCTTTCTTTCTT	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RYR2_chr1_237037184_237838988	237056594	C C	CAGCACTG others(16): Show CAGCACTGCACCTGTGAGGACTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01074.hp2 others(34): Show HG00280.hp1 HG00280.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01928.hp1 HG01981.hp1 HG01981.hp2 HG02257.hp1 HG02293.hp2 HG02572.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0023 a0001c0029 a0001c0032 a0001c0037 a0001c0044 a0001c0049 a0002c0012 a0002c0024 a0002c0038 a0003c0006 a0003c0013 a0003c0021 a0006c0020	a0001c0001t0007 a0001c0001t0035 a0001c0002t0001 others(32): Show a0001c0001t0007 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0002 a0001c0004t0004 a0001c0004t0011 a0001c0005t0006 a0001c0007t0003 a0001c0008t0024 a0001c0008t0025 a0001c0011t0004 a0001c0014t0032 a0001c0015t0006 a0001c0016t0030 a0001c0023t0003 a0001c0029t0008 a0001c0032t0005 a0001c0037t0012 a0001c0044t0002 a0001c0049t0010 a0002c0012t0002 a0002c0012t0020 a0002c0024t0005 a0002c0038t0040 a0003c0006t0001 a0003c0006t0002 a0003c0013t0001 a0003c0021t0001 a0006c0020t0001	a0001c0001t0007g0082 a0001c0001t0035g0026 a0001c0002t0001g0075 others(34): Show a0001c0001t0007g0082 a0001c0001t0035g0026 a0001c0002t0001g0075 a0001c0002t0002g0076 a0001c0002t0010g0021 a0001c0003t0002g0090 a0001c0003t0003g0046 a0001c0003t0004g0016 a0001c0003t0004g0060 a0001c0003t0005g0018 a0001c0004t0002g0092 a0001c0004t0004g0009 a0001c0004t0011g0093 a0001c0005t0006g0029 a0001c0007t0003g0057 a0001c0008t0024g0081 a0001c0008t0025g0039 a0001c0011t0004g0064 a0001c0014t0032g0031 a0001c0015t0006g0034 a0001c0016t0030g0024 a0001c0023t0003g0071 a0001c0029t0008g0089 a0001c0032t0005g0098 a0001c0037t0012g0037 a0001c0044t0002g0014 a0001c0049t0010g0044 a0002c0012t0002g0072 a0002c0012t0020g0074 a0002c0024t0005g0013 a0002c0038t0040g0096 a0003c0006t0001g0083 a0003c0006t0002g0006 a0003c0006t0002g0094 a0003c0013t0001g0091 a0003c0021t0001g0019 a0006c0020t0001g0015	37	89	0.4157	23	c.48+ others(40): Show c.48+14051_48+14073dupCACTGCACCTGTGAGGACTGGAG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237346367	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03831.hp1 NA18962.hp2 others(1): Show HG01928.hp1 HG03831.hp1 NA18962.hp2 NA19066.hp2	a0001 a0007 a0001 a0007	a0001c0003 a0001c0007 a0007c0033 a0001c0003 a0001c0007 a0007c0033	a0001c0003t0002 a0001c0003t0004 a0001c0007t0001 others(1): Show a0001c0003t0002 a0001c0003t0004 a0001c0007t0001 a0007c0033t0008	a0001c0003t0002g0090 a0001c0003t0004g0016 a0001c0007t0001g0020 others(1): Show a0001c0003t0002g0090 a0001c0003t0004g0016 a0001c0007t0001g0020 a0007c0033t0008g0049	4	74	0.0541	23	c.274 others(40): Show c.274-9581_274-9580insAAAAAAAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03471.hp2 NA18747.hp1 HG01074.hp2 HG03471.hp2 NA18747.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0002c0035 a0003c0006 a0001c0007 a0002c0035 a0003c0006	a0001c0007t0021 a0002c0035t0018 a0003c0006t0002 a0001c0007t0021 a0002c0035t0018 a0003c0006t0002	a0001c0007t0021g0048 a0002c0035t0018g0010 a0003c0006t0002g0006 a0001c0007t0021g0048 a0002c0035t0018g0010 a0003c0006t0002g0006	3	26	0.1154	23	c.100 others(42): Show c.1006-4863_1006-4841dupTTTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237623384	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02257.hp2 others(3): Show HG01109.hp2 HG02055.hp1 HG02257.hp2 HG02572.hp2 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0022	a0001c0001t0001 a0001c0001t0038 a0001c0002t0023 others(3): Show a0001c0001t0001 a0001c0001t0038 a0001c0002t0023 a0001c0002t0028 a0001c0005t0031 a0001c0022t0009	a0001c0001t0001g0099 a0001c0001t0038g0001 a0001c0002t0023g0059 others(3): Show a0001c0001t0001g0099 a0001c0001t0038g0001 a0001c0002t0023g0059 a0001c0002t0028g0033 a0001c0005t0031g0028 a0001c0022t0009g0066	6	97	0.0619	23	c.591 others(40): Show c.5917-379_5917-378insCTTTCTTTCTTTCTTTCTTTCTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237631613	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0041 a0001c0011t0041	a0001c0011t0041g0054 a0001c0011t0041g0054	1	6	0.1667	23	c.655 others(39): Show c.6555+82_6555+104dupTTTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	42/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA20300.hp1 HG03098.hp1 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0037 a0007c0026 a0001c0037 a0007c0026	a0001c0037t0003 a0007c0026t0002 a0001c0037t0003 a0007c0026t0002	a0001c0037t0003g0089 a0007c0026t0002g0109 a0001c0037t0003g0089 a0007c0026t0002g0109	2	80	0.0250	23	c.983 others(42): Show c.9830+1201_9830+1202insATATATATATATATATATATTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789659	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0043 a0043	a0043c0024 a0043c0024	a0043c0024t0001 a0043c0024t0001	a0043c0024t0001g0110 a0043c0024t0001g0110	1	130	0.0077	23	c.983 others(42): Show c.9830+1201_9830+1202insATATATATATATATATATATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33789986	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG02615.hp1 others(1): Show HG01243.hp2 HG02451.hp2 HG02615.hp1 HG03453.hp1	a0002 a0003 a0042 a0002 a0003 a0042	a0002c0119 a0003c0035 a0003c0065 others(1): Show a0002c0119 a0003c0035 a0003c0065 a0042c0071	a0002c0119t0001 a0003c0035t0004 a0003c0065t0002 others(1): Show a0002c0119t0001 a0003c0035t0004 a0003c0065t0002 a0042c0071t0003	a0002c0119t0001g0090 a0003c0035t0004g0107 a0003c0065t0002g0150 others(1): Show a0002c0119t0001g0090 a0003c0035t0004g0107 a0003c0065t0002g0150 a0042c0071t0003g0115	4	53	0.0755	23	c.983 others(42): Show c.9830+1529_9830+1551dupTTTTTTTTTTTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAAAAAG others(16): Show AAAAAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03209.hp1 others(3): Show HG02895.hp2 HG02897.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0114 a0003c0003t0001g0013 a0003c0003t0001g0114	6	226	0.0265	23	c.37 others(34): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0070 a0004c0004t0001g0070	1	221	0.0045	23	c.37 others(34): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTCTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00558.hp1 others(35): Show HG00099.hp2 HG00280.hp2 HG00558.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01433.hp2 HG01517.hp2 HG02015.hp2 HG02523.hp2 HG02896.hp1 HG03492.hp1 HG03927.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18944.hp2 NA18954.hp1 NA18960.hp2 NA18971.hp1 NA18998.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19065.hp1 NA19074.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0001 a0007c0007 a0001c0002 a0002c0001 a0007c0007	a0001c0002t0001 a0002c0001t0001 a0007c0007t0001 a0001c0002t0001 a0002c0001t0001 a0007c0007t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0015 others(6): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0002c0001t0001g0001 a0007c0007t0001g0048	38	209	0.1818	23	c.-22 others(34): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0011 a0001c0002t0005g0011	1	53	0.0189	23	c.-28 others(34): Show c.-2803_-2802insTATATATATATATATATATTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	53	0.0189	23	c.-28 others(34): Show c.-2803_-2802insTATATATATATATTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG02486.hp2 others(8): Show HG00408.hp1 HG00621.hp1 HG02486.hp2 HG04115.hp2 NA18947.hp1 NA18986.hp1 NA18995.hp2 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19074.hp2	a0001 a0002 a0013 others(3): Show a0001 a0002 a0013 a0015 a0034 a0040	a0001c0006 a0002c0001 a0013c0025 others(3): Show a0001c0006 a0002c0001 a0013c0025 a0015c0065 a0034c0062 a0040c0045	a0001c0006t0001 a0001c0006t0021 a0002c0001t0001 others(4): Show a0001c0006t0001 a0001c0006t0021 a0002c0001t0001 a0013c0025t0001 a0015c0065t0001 a0034c0062t0001 a0040c0045t0001	a0001c0006t0001g0226 a0001c0006t0001g0256 a0001c0006t0001g0264 others(8): Show a0001c0006t0001g0226 a0001c0006t0001g0256 a0001c0006t0001g0264 a0001c0006t0001g0338 a0001c0006t0021g0209 a0002c0001t0001g0186 a0013c0025t0001g0215 a0013c0025t0001g0216 a0015c0065t0001g0224 a0034c0062t0001g0234 a0040c0045t0001g0305	11	131	0.0840	23	c.20+ others(40): Show c.20+12200_20+12201insTTTTTTTTTTTTTTTTTTTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAE1_chr19_47125835_47215636	47182496	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGCGCTGCGC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	203	0.0049	23	c.733 others(42): Show c.733+12574_733+12575insTGTGTGTGTGTGTGCGCTGCGCG	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47201360	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	33	0.0303	23	c.879 others(40): Show c.879-2304_879-2282dupTTTTTTTTTTTTTTTTTTTTTTT	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SALL3_chr18_78974818_79003969	78980727	G G	GGCCTCGG others(16): Show GGCCTCGGCGACCCCGGGGCGAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(47): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00741.hp1 HG01069.hp1 HG01167.hp2 HG01169.hp1 HG01257.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02738.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03942.hp1 HG04228.hp2 HG06807.hp1 NA18944.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp2 NA19043.hp1 NA19062.hp1 NA19066.hp1 NA19074.hp1 NA19086.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0014	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0005c0007 a0014c0017	a0001c0001t0013 a0002c0002t0003 a0002c0002t0015 others(8): Show a0001c0001t0013 a0002c0002t0003 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0023 a0002c0005t0006 a0002c0005t0011 a0002c0005t0029 a0005c0007t0013 a0014c0017t0003	a0001c0001t0013g0022 a0001c0001t0013g0043 a0001c0001t0013g0044 others(21): Show a0001c0001t0013g0022 a0001c0001t0013g0043 a0001c0001t0013g0044 a0001c0001t0013g0045 a0002c0002t0003g0004 a0002c0002t0003g0005 a0002c0002t0003g0008 a0002c0002t0003g0016 a0002c0002t0003g0036 a0002c0002t0003g0038 a0002c0002t0003g0040 a0002c0002t0003g0046 a0002c0002t0015g0005 a0002c0002t0015g0008 a0002c0002t0017g0008 a0002c0002t0017g0041 a0002c0002t0018g0005 a0002c0002t0018g0039 a0002c0002t0023g0004 a0002c0005t0006g0021 a0002c0005t0011g0021 a0002c0005t0029g0042 a0005c0007t0013g0037 a0014c0017t0003g0004	50	314	0.1592	23	c.82+ others(36): Show c.82+373_82+374insCTCGGCGACCCCGGGGCGAGCGC	SALL3	ENSG00000256463.10	transcript	ENST00000537592.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
SAMD10_chr20_63969116_63984642	63970016	A A	AGGGGGCG others(16): Show AGGGGGCGGGGAGGGGGAGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 NA20905.hp2 HG03195.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0002 a0001c0002t0004g0040 a0001c0002t0003g0002 a0001c0002t0004g0040	2	336	0.0060	23	c.54 others(34): Show c.5493_*5494insGCCCCCTCCCCCTCCCCGCCCCC	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		4099		chr20	TogoVar
SAMD3_chr6_130139315_130227951	130153669	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01243.hp1 others(1): Show HG00642.hp2 HG01070.hp1 HG01243.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0133	4	332	0.0120	23	c.102 others(42): Show c.1023+1155_1023+1156insTATATATATATATATATATATAT	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(16): Show TGGAAGGAAGGAAGGAAGAAGGAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0183 a0001c0001t0074g0183	1	62	0.0161	23	c.716 others(42): Show c.716-13000_716-12999insAAGGAAGGAAGGAAGGAAGGAAG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724010	A A	ATGGAAGG others(16): Show ATGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0196 a0001c0001t0011g0196	1	260	0.0038	23	c.716 others(42): Show c.716-13014_716-13013insTGGAAGGAAGGAAGGAAGGAAGG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12			chr14	TogoVar
SAMD8_chr10_75106656_75187123	75148346	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	64	0.0156	23	c.-15 others(40): Show c.-15-2165_-15-2143dupTTTTTTTTTTTTTTTTTTTTTTT	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMSN1_chr21_14480228_14551315	14481572	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	22	0.0455	23	c.43 others(34): Show c.4339_*4340insTTTTTTTTTTTTTTTTTTTTTTT	SAMSN1	ENSG00000155307.19	transcript	ENST00000400566.6	protein_coding		3655		chr21	TogoVar
SAP130_chr2_127936222_128033059	127947801	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	346	0.0029	23	c.279 others(42): Show c.2797+2067_2797+2068insCACACACACACACACACACACAC	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	18/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	74	0.0135	23	c.870 others(40): Show c.870-3526_870-3504dupAAAAAAAAAAAAAAAAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAP30BP_chr17_75662338_75713059	75709792	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	3	0.3333	23	c.32 others(34): Show c.3271_*3272insAAAAAAAAAAAAAAAAAAAAAAA	SAP30BP	ENSG00000161526.15	transcript	ENST00000584667.6	protein_coding		1734		chr17	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG03579.hp2 HG02055.hp1 HG02965.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019	a0001c0001t0006g0125 a0001c0001t0007g0037 a0001c0001t0019g0130 a0001c0001t0006g0125 a0001c0001t0007g0037 a0001c0001t0019g0130	3	6	0.5000	23	c.-20 others(32): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SAR1A_chr10_70142289_70175514	70149347	A A	ACAGACGT others(16): Show ACAGACGTGAGCCACCGCGCCCGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0198 a0001c0001t0075g0198	1	418	0.0024	23	c.31 others(34): Show c.3106_*3128dupCCGGGCGCGGTGGCTCACGTCTG	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	3128		chr10	TogoVar
SAR1A_chr10_70142289_70175514	70149547	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0232 a0001c0001t0094g0232	1	24	0.0417	23	c.29 others(34): Show c.2928_*2929insAAAAAAAAAAAAAAAAAAAAAAA	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	2928		chr10	TogoVar
SARDH_chr9_133658560_133743352	133668559	C C	CCCCTCGC others(16): Show CCCCTCGCCCTCCCTCTCCCCTCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG03098.hp2 others(3): Show HG02109.hp1 HG02630.hp2 HG03098.hp2 HG03579.hp2 NA18522.hp1 NA20129.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0030 a0001c0051 others(3): Show a0001c0001 a0001c0030 a0001c0051 a0003c0003 a0003c0026 a0007c0036	a0001c0001t0001 a0001c0030t0001 a0001c0051t0001 others(3): Show a0001c0001t0001 a0001c0030t0001 a0001c0051t0001 a0003c0003t0001 a0003c0026t0001 a0007c0036t0001	a0001c0001t0001g0256 a0001c0030t0001g0229 a0001c0051t0001g0033 others(3): Show a0001c0001t0001g0256 a0001c0030t0001g0229 a0001c0051t0001g0033 a0003c0003t0001g0238 a0003c0026t0001g0258 a0007c0036t0001g0058	6	241	0.0249	23	c.249 others(42): Show c.2496-1690_2496-1689insTGAGGGGAGAGGGAGGGCGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669075	C C	CCCCTCGC others(16): Show CCCCTCGCCCTCCCTCTCCCCTCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0009 a0009	a0009c0068 a0009c0068	a0009c0068t0001 a0009c0068t0001	a0009c0068t0001g0059 a0009c0068t0001g0059	1	213	0.0047	23	c.249 others(42): Show c.2495+1508_2495+1509insTGAGGGGAGAGGGAGGGCGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669275	A A	ACCCTCCC others(16): Show ACCCTCCCTCTCCCCTTACCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0038 a0006c0038	a0006c0038t0001 a0006c0038t0001	a0006c0038t0001g0092 a0006c0038t0001g0092	1	259	0.0039	23	c.249 others(42): Show c.2495+1308_2495+1309insGGAGGGTAAGGGGAGAGGGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARNP_chr12_55752270_55822724	55774558	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	164	0.0061	23	c.502 others(42): Show c.502-13919_502-13918insTTTTTTTTTTTTTTTTTTTTTTT	SARNP	ENSG00000205323.9	transcript	ENST00000336133.8	protein_coding	9/10			chr12	TogoVar
SARS2_chr19_38910266_38935763	38927900	G G	GAAACGAG others(16): Show GAAACGAGAGAGATACACACAGAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	418	0.0024	23	c.268 others(40): Show c.268-1601_268-1600insGTCTGTGTGTATCTCTCTCGTTT	SARS2	ENSG00000104835.15	transcript	ENST00000221431.11	protein_coding	1/15			chr19	TogoVar
SASH1_chr6_148337838_148557044	148449074	A A	ATTTCATT others(16): Show ATTTCATTTCTTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0279 a0004c0012t0002g0279	1	319	0.0031	23	c.386 others(40): Show c.386+8671_386+8672insATTTCTTTTTCTTTTTTTTTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0167 a0002c0002t0003g0167	1	118	0.0085	23	c.386 others(40): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	92	0.0109	23	c.300 others(38): Show c.300+534_300+535insGAAAGAAAGAAAGAAAGAAAGAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar

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