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
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0269 a0001c0001t0004g0269	1	128	0.0078	29	c.52 others(40): Show c.5253_*5254insAAAAAAAAAAAAAAAAAAAAAATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0020 a0001c0001t0021g0020	1	128	0.0078	29	c.52 others(40): Show c.5253_*5254insAAAAAAAAAAAAAAAAAATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RTL10_chr22_19841146_19859874	19847803	G G	GAAAAAAA others(22): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0057 a0001c0001t0051g0057	1	368	0.0027	29	c.33 others(40): Show c.3363_*3364insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RTL10	ENSG00000215012.9	transcript	ENST00000328554.9	protein_coding	3/3	3363		chr22	TogoVar
RTL6_chr22_44487583_44503233	44502678	A A	ATAATATT others(22): Show ATAATATTGCATATATGTTTAGTGTATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0019 a0001c0001t0018g0019	1	400	0.0025	29	c.-48 others(40): Show c.-4891_-4890insAATATACACTAAACATATATGCAATATTA	RTL6	ENSG00000188636.4	transcript	ENST00000341255.4	protein_coding		4446		chr22	TogoVar
RTP5_chr2_241864729_241878823	241867196	C C	CACCAGGT others(22): Show CACCAGGTGGGCAGCAGTGCTGAAGGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0024 a0024	a0024c0018 a0024c0018	a0024c0018t0009 a0024c0018t0009	a0024c0018t0009g0001 a0024c0018t0009g0001	1	364	0.0027	29	c.-25 others(40): Show c.-2561_-2560insACCAGGTGGGCAGCAGTGCTGAAGGGGCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		2532		chr2	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(22): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG06807.hp1 HG03098.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0283 a0001c0001t0002g0286	2	220	0.0091	29	c.-58 others(36): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY3_chr4_70716964_70813619	70765204	A A	ATGTGTGT others(22): Show ATGTGTGTGTATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0179 a0001c0001t0006g0179	1	251	0.0040	29	c.572 others(44): Show c.572+628_572+629insTGTGTGTGTATATATATATATACATATAT	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	4/17			chr4	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0031 a0001c0001t0008g0031	1	14	0.0714	29	c.59- others(46): Show c.59-74385_59-74357dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RWDD4_chr4_183634635_183664185	183638510	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0043 a0001c0003t0002g0043	1	467	0.0021	29	c.29 others(40): Show c.2925_*2926insCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding		1124		chr4	TogoVar
RWDD4_chr4_183634635_183664185	183638510	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0053 a0001c0004t0002g0053	1	467	0.0021	29	c.29 others(40): Show c.2925_*2926insCTTTCTTTTTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding		1124		chr4	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01071.hp1 others(12): Show HG00280.hp1 HG01069.hp1 HG01071.hp1 HG01358.hp2 HG02109.hp2 HG04228.hp1 NA18612.hp1 NA18943.hp2 NA18953.hp2 NA18956.hp2 NA18966.hp2 NA18993.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0108 a0001c0001t0001g0115 others(11): Show a0001c0001t0001g0014 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0223 a0001c0001t0001g0246 a0001c0001t0001g0262 a0001c0001t0001g0279 a0001c0001t0001g0294 a0001c0001t0001g0370 a0001c0001t0001g0388 a0001c0001t0001g0414	15	19	0.7895	29	c.535 others(46): Show c.535-1976_535-1948dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP2_chr13_31734526_31808389	31746767	T T	TTATATAC others(22): Show TTATATACAGCAATATATATAATATACAGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	250	0.0040	29	c.94+ others(44): Show c.94+7061_94+7062insTATATACAGCAATATATATAATATACAGC	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	1/17			chr13	TogoVar
RYR1_chr19_38428691_38592564	38520693	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0218 a0001c0019t0002g0218	1	114	0.0088	29	c.102 others(50): Show c.10259+1265_10259+1266insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	67/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38540457	A A	ATAATAAA others(22): Show ATAATAAACCTCCAATCATATACTACAGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02897.hp2 HG02922.hp1 others(5): Show HG02647.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03486.hp1 NA19030.hp2 NA19240.hp1	a0001 a0015 a0018 others(1): Show a0001 a0015 a0018 a0029	a0001c0011 a0001c0055 a0001c0058 others(3): Show a0001c0011 a0001c0055 a0001c0058 a0015c0080 a0018c0073 a0029c0081	a0001c0011t0001 a0001c0055t0001 a0001c0058t0001 others(3): Show a0001c0011t0001 a0001c0055t0001 a0001c0058t0001 a0015c0080t0001 a0018c0073t0001 a0029c0081t0001	a0001c0011t0001g0003 a0001c0011t0001g0004 a0001c0011t0001g0017 others(5): Show a0001c0011t0001g0003 a0001c0011t0001g0004 a0001c0011t0001g0017 a0001c0055t0001g0034 a0001c0058t0001g0002 a0015c0080t0001g0142 a0018c0073t0001g0137 a0029c0081t0001g0143	8	209	0.0383	29	c.116 others(50): Show c.11689+2525_11689+2526insGTAATAAACCTCCAATCATATACT ACAGT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38540486	A A	ATAATAAA others(22): Show ATAATAAACCTCCAATCATATACTACAGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02615.hp1 HG02622.hp1 others(4): Show HG00621.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG03130.hp1 HG03209.hp1 HG03516.hp1	a0001 a0010 a0021 a0001 a0010 a0021	a0001c0003 a0001c0028 a0001c0070 others(3): Show a0001c0003 a0001c0028 a0001c0070 a0001c0071 a0010c0087 a0021c0086	a0001c0003t0002 a0001c0028t0001 a0001c0070t0001 others(3): Show a0001c0003t0002 a0001c0028t0001 a0001c0070t0001 a0001c0071t0001 a0010c0087t0001 a0021c0086t0001	a0001c0003t0002g0213 a0001c0003t0002g0214 a0001c0028t0001g0186 others(4): Show a0001c0003t0002g0213 a0001c0003t0002g0214 a0001c0028t0001g0186 a0001c0070t0001g0001 a0001c0071t0001g0195 a0010c0087t0001g0019 a0021c0086t0001g0015	7	168	0.0417	29	c.116 others(50): Show c.11689+2592_11689+2620dupCCTCCAATCATATACTACAGTGTA ATAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0013 a0004c0034t0013	a0004c0034t0013g0043 a0004c0034t0013g0043	1	52	0.0192	29	c.774 others(46): Show c.774-8657_774-8656insATATATATATATATATATATATATATAT A	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18747.hp2 HG01261.hp1 NA18747.hp2	a0002 a0003 a0002 a0003	a0002c0012 a0003c0013 a0002c0012 a0003c0013	a0002c0012t0020 a0003c0013t0003 a0002c0012t0020 a0003c0013t0003	a0002c0012t0020g0074 a0003c0013t0003g0086 a0002c0012t0020g0074 a0003c0013t0003g0086	2	25	0.0800	29	c.100 others(48): Show c.1006-4841_1006-4840insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33789986	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0037 a0037	a0037c0039 a0037c0039	a0037c0039t0001 a0037c0039t0001	a0037c0039t0001g0053 a0037c0039t0001g0053	1	50	0.0200	29	c.983 others(48): Show c.9830+1551_9830+1552insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A10_chr1_151977915_151998859	151989008	T T	TTACCTAG others(22): Show TTACCTAGTTTACTAGGTAACTAGTTTACC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	388	0.0026	29	c.-21 others(46): Show c.-21-2758_-21-2757insGGTAAACTAGTTACCTAGTAAACTAGGT A	S100A10	ENSG00000197747.9	transcript	ENST00000368811.8	protein_coding	1/2			chr1	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(22): Show AGGGGGTGGGGGGAGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0177	1	41	0.0244	29	c.-1- others(42): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(22): Show AGGGGGTGGGGGGAGGGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00741.hp1 HG01071.hp2 others(83): Show HG00621.hp2 HG00741.hp1 HG01071.hp2 HG01123.hp1 HG01192.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02451.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18950.hp1 NA18951.hp2 NA18962.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0025 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0084 a0001c0001t0001g0137 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0006g0037 a0001c0002t0001g0103 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0197 a0001c0002t0002g0005 a0001c0002t0002g0029 a0001c0002t0002g0081 a0001c0002t0002g0188 a0001c0002t0003g0016	86	126	0.6825	29	c.-1- others(42): Show c.-1-977_-1-976insCCCCCCCGCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(22): Show AGGGGGTGGGGGGAGGGGGGGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp2 HG01175.hp1 others(14): Show HG00544.hp2 HG00741.hp2 HG01175.hp1 HG01255.hp1 HG01515.hp1 HG01517.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG03654.hp1 HG03688.hp1 NA18956.hp1 NA18959.hp2 NA18975.hp1 NA18977.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0056 others(7): Show a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0008g0104 a0001c0002t0001g0198 a0001c0002t0002g0017 a0001c0002t0002g0070 a0001c0002t0002g0140	17	57	0.2982	29	c.-1- others(42): Show c.-1-977_-1-976insCCCCCCGCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(22): Show AGGGGGTGGGGGGAGGGGGGGGGCGGGGGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA21309.hp2 HG03942.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0134 a0001c0002t0003g0203 a0001c0001t0001g0134 a0001c0002t0003g0203	2	42	0.0476	29	c.-1- others(42): Show c.-1-977_-1-976insACCCCCGCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGT others(22): Show TGGGGGGTGGGGGGGGGCGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	411	0.0024	29	c.-1- others(42): Show c.-1-983_-1-982insGCCCCCCCCCCCGCCCCCCCCCACCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAAAGAA others(22): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG06807.hp1 HG02976.hp1 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0017 a0004c0004t0001g0017	2	222	0.0090	29	c.37 others(40): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	53	0.0189	29	c.-28 others(40): Show c.-2803_-2802insTATATATATATATATATATATATTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0143 a0001c0002t0002g0143	1	53	0.0189	29	c.-28 others(40): Show c.-2803_-2802insTATATATATATATATATATATTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0162 a0001c0002t0005g0162	1	53	0.0189	29	c.-28 others(40): Show c.-2803_-2802insTATATATATATATATATTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATTT others(22): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0056 a0002c0001t0001g0056	1	53	0.0189	29	c.-28 others(40): Show c.-2803_-2802insTATATTTTTTTTTTTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAMD11_chr1_918923_949574	934041	A A	AGGCGGCT others(22): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03540.hp1 HG02970.hp1 HG03540.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0006 a0013c0020t0002 a0013c0020t0006	a0013c0020t0002g0314 a0013c0020t0006g0297 a0013c0020t0002g0314 a0013c0020t0006g0297	2	429	0.0047	29	c.843 others(46): Show c.843-1709_843-1708insGGGGGGGGGCGGCTGCGTTACAGGTGGG C	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934377	G G	GAGGCGGC others(22): Show GAGGCGGCTGCGTTACAGGTGGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0318 a0001c0002t0002g0318	1	332	0.0030	29	c.843 others(46): Show c.843-1395_843-1394insAGGCGGCTGCGTTACAGGTGGGCGGGGG A	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar
SAMD11_chr1_918923_949574	934409	G G	GGCTCCGT others(22): Show GGCTCCGTTACAGGTGGGCGGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG04204.hp2 HG00738.hp2 HG01346.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0163 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0163	3	427	0.0070	29	c.843 others(46): Show c.843-1360_843-1359insCCGTTACAGGTGGGCGGGGGGGGGCTGC T	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934511	C C	CAGGGGAG others(22): Show CAGGGGAGGCGGCTGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0015 a0007c0016t0015	a0007c0016t0015g0261 a0007c0016t0015g0261	1	407	0.0025	29	c.843 others(46): Show c.843-1261_843-1260insAGGGGAGGCGGCTGCGTTACAGGTGGGC G	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar
SAMD11_chr1_918923_949574	934545	A A	AGGCGGCT others(22): Show AGGCGGCTCCGTTACAGGTGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	357	0.0028	29	c.843 others(46): Show c.843-1224_843-1223insGGCTCCGTTACAGGTGGGCGGGGGGGGG C	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934623	C C	CGGGGGAG others(22): Show CGGGGGAGGCGGCTGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0008 a0006c0007t0008	a0006c0007t0008g0280 a0006c0007t0008g0280	1	420	0.0024	29	c.843 others(46): Show c.843-1144_843-1143insAGGCGGCTGCGTTACAGGTGGGCGGGGG G	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934629	G G	GGGGCTGC others(22): Show GGGGCTGCTCCGTTACAGGTGGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	340	0.0029	29	c.843 others(46): Show c.843-1141_843-1140insGCTGCTCCGTTACAGGTGGGCGGGGGAG G	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934661	G G	GGCTCCGT others(22): Show GGCTCCGTTACAGGTGGGCGGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	425	0.0024	29	c.843 others(46): Show c.843-1108_843-1107insCCGTTACAGGTGGGCGGGGGGGGGCTGC T	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934665	G G	GCGTTACA others(22): Show GCGTTACAGGTGGGCGGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	410	0.0024	29	c.843 others(46): Show c.843-1088_843-1087insGGGGCTGCTCCGTTACAGGTGGGCGGGG G	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934689	G G	GGCTCCGT others(22): Show GGCTCCGTTACAGGTGGGCGGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	412	0.0024	29	c.843 others(46): Show c.843-1060_843-1059insGGGGCTGCTCCGTTACAGGTGGGCGGGG G	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934689	G G	GGCTGCGT others(22): Show GGCTGCGTTACAGGTGGGCGGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	412	0.0024	29	c.843 others(46): Show c.843-1080_843-1079insGCGTTACAGGTGGGCGGGGGGGGGCTGC T	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934713	A A	AGGCGGCT others(22): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0299 a0004c0008t0006g0299	1	375	0.0027	29	c.843 others(46): Show c.843-1032_843-1031insGGGGCGGCTGCGTTACAGGTGGGCGGGG G	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934825	A A	AGGCGGCT others(22): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG02896.hp1 HG02280.hp1 HG02630.hp1 HG02896.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0013 a0001c0002 a0008c0013	a0001c0002t0011 a0008c0013t0002 a0001c0002t0011 a0008c0013t0002	a0001c0002t0011g0268 a0008c0013t0002g0281 a0008c0013t0002g0282 a0001c0002t0011g0268 a0008c0013t0002g0281 a0008c0013t0002g0282	3	386	0.0078	29	c.843 others(44): Show c.843-940_843-939insGCGTTACAGGTGGGCGGGGGGGGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934909	A A	AGGCGGCT others(22): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0161 a0001c0001t0003g0162	2	350	0.0057	29	c.843 others(44): Show c.843-861_843-833dupGCGGCTGCGTTACAGGTGGGCGGGGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934959	C C	CGGGGGGG others(22): Show CGGGGGGGGCGGCTGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0270 a0001c0002t0011g0270	1	420	0.0024	29	c.843 others(44): Show c.843-810_843-809insGGGGGCGGCTGCGTTACAGGTGGGCGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD5_chr6_147503690_147575021	147514229	G G	GGCGGGGG others(22): Show GGCGGGGGGGGGGGGGGGGGGGTAGGGGGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0164 a0001c0002t0014g0164	1	362	0.0028	29	c.459 others(46): Show c.459+4842_459+4843insGCGGGGGGGGGGGGGGGGGGGTAGGGGG T	SAMD5	ENSG00000203727.4	transcript	ENST00000367474.2	protein_coding	1/1			chr6	TogoVar
SAMD8_chr10_75106656_75187123	75148346	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0126	1	64	0.0156	29	c.-15 others(46): Show c.-15-2143_-15-2142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMHD1_chr20_36885229_36956708	36890398	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp2 HG03831.hp1 HG04199.hp2 others(1): Show HG03704.hp2 HG03831.hp1 HG04199.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0174 a0001c0001t0002g0185 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0174 a0001c0001t0002g0185 a0001c0001t0002g0196	4	338	0.0118	29	c.25 others(40): Show c.2533_*2534insAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2533		chr20	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03710.hp2 HG01934.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0053 a0001c0002t0012g0047 a0001c0002t0001g0053 a0001c0002t0012g0047	2	75	0.0267	29	c.870 others(46): Show c.870-3532_870-3504dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	4	0.2500	29	c.-20 others(38): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02486.hp1 HG01081.hp1 HG02486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0004 a0003c0006t0004 a0001c0001t0004 a0003c0006t0004	a0001c0001t0004g0211 a0003c0006t0004g0206 a0001c0001t0004g0211 a0003c0006t0004g0206	2	14	0.1429	29	c.995 others(44): Show c.995-649_995-648insAAAAAAAAAAAAATATATATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar

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