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
RSF1_chr11_77655009_77825722	77658011	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 NA19004.hp1 HG00140.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0325 a0001c0001t0001g0264 a0001c0001t0001g0325	2	7	0.2857	25	c.89 others(36): Show c.8905_*8906insTTTTTTTTTTTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding		1997		chr11	TogoVar
RSPH3_chr6_158967871_159005202	158984434	T T	TTTATATA others(18): Show TTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18982.hp2 NA18954.hp1 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0154 a0002c0002t0002g0173 a0002c0002t0002g0154 a0002c0002t0002g0173	2	46	0.0435	25	c.347 others(40): Show c.347-628_347-627insTATATATATATATATATATATATAA	RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding	3/7			chr6	TogoVar
RSPH3_chr6_158967871_159005202	158984475	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18943.hp2 HG01934.hp2 NA18943.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0017 a0002c0002 a0010c0017	a0002c0002t0002 a0010c0017t0002 a0002c0002t0002 a0010c0017t0002	a0002c0002t0002g0152 a0010c0017t0002g0175 a0002c0002t0002g0152 a0010c0017t0002g0175	2	295	0.0068	25	c.347 others(40): Show c.347-669_347-668insTATATATATATATATATATATATAT	RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding	3/7			chr6	TogoVar
RSPH4A_chr6_116611479_116637985	116623097	C C	CTTGTTTT others(18): Show CTTGTTTTGTTTTGTTTTGTTTTGTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03831.hp1 HG03017.hp2 HG03831.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0045 a0004c0004t0001g0045	2	183	0.0109	25	c.921 others(40): Show c.921+102_921+126dupTGTTTTGTTTTGTTTTGTTTTGTTT	RSPH4A	ENSG00000111834.13	transcript	ENST00000229554.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
RSPO3_chr6_127113671_127204481	127117836	A A	AGGAAGGA others(18): Show AGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0142 a0001c0001t0022g0142	1	121	0.0083	25	c.-13 others(36): Show c.-1357_-1356insGGAAGGAAGGAAGGAAGGAAGGAAG	RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding		834		chr6	TogoVar
RTL10_chr22_19841146_19859874	19847803	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG04184.hp1 HG02602.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0032 a0001c0001t0029g0032	2	369	0.0054	25	c.33 others(36): Show c.3363_*3364insTTTTTTTTTTTTTTTTTTTTTTTTT	RTL10	ENSG00000215012.9	transcript	ENST00000328554.9	protein_coding	3/3	3363		chr22	TogoVar
RTL10_chr22_19841146_19859874	19847804	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0114 a0001c0001t0096g0114	1	170	0.0059	25	c.33 others(36): Show c.3362_*3363insTTTTTTTTTTTTTTTTTTTTTTTTT	RTL10	ENSG00000215012.9	transcript	ENST00000328554.9	protein_coding	3/3	3362		chr22	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02897.hp1 HG03453.hp2 others(1): Show HG02723.hp2 HG02897.hp1 HG03453.hp2 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0148 a0002c0002t0007g0002 a0002c0002t0007g0004 others(1): Show a0002c0002t0003g0148 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0007g0005	4	11	0.3636	25	c.142 others(42): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN3_chr11_63676500_63764882	63735601	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	160	0.0063	25	c.253 others(46): Show c.2531-14390_2531-14389insCTCTCTCTCTCTCTCTCTCTCTCT C	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	3/8			chr11	TogoVar
RUFY1_chr5_179545554_179615012	179550532	G G	GCGCCCGC others(18): Show GCGCCCGCCCCCACCCCGCGCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0015 a0001c0007t0001g0141 a0001c0007t0001g0142 a0001c0007t0001g0015 a0001c0007t0001g0141 a0001c0007t0001g0142	3	363	0.0083	25	c.-38 others(32): Show c.-38_-37insCGCCCGCCCCCACCCCGCGCCCGCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		21		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(18): Show CCGCCCGCCCGCCCGCCCCCACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 NA19055.hp2 NA20752.hp1 HG04115.hp1 NA19055.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0055 a0001c0001t0001g0080 a0001c0001t0001g0094	3	177	0.0169	25	c.-34 others(32): Show c.-34_-33insCGCCCGCCCGCCCGCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179579657	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02148.hp1 HG03688.hp1 HG02135.hp2 HG02148.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0093	3	50	0.0600	25	c.891 others(42): Show c.891-1268_891-1267insTTTTTTTTTTTTTTTTTTTTTTTTT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY3_chr4_70716964_70813619	70774644	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0240 a0001c0001t0008g0240	1	115	0.0087	25	c.759 others(40): Show c.759-523_759-522insAAAAAAAAAAAAAAATATATATATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87624839	T T	TAATGACA others(18): Show TAATGACACTCCATACATGCAAAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0011 a0001c0001t0010g0011	1	200	0.0050	25	c.-39 others(36): Show c.-3985_-3984insAATGACACTCCATACATGCAAAACA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		3558		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TATATATA others(18): Show TATATATATAGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0102 a0001c0001t0024g0102	1	143	0.0070	25	c.-27 others(36): Show c.-2733_-2732insATATATATAGTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TATATATA others(18): Show TATATATATTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0121 a0001c0001t0008g0121	1	143	0.0070	25	c.-27 others(36): Show c.-2733_-2732insATATATATTGTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626198	A A	ATGTCATA others(18): Show ATGTCATATATATGTGTCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0061 a0001c0001t0029g0061	1	79	0.0127	25	c.-26 others(36): Show c.-2626_-2625insTGTCATATATATGTGTCATATATAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2199		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATTGTCAT others(18): Show ATTGTCATATATATGTGTCATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02895.hp1 HG02897.hp2 HG01069.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0068 a0001c0001t0069 a0001c0001t0062 a0001c0001t0068 a0001c0001t0069	a0001c0001t0062g0145 a0001c0001t0068g0143 a0001c0001t0069g0144 a0001c0001t0062g0145 a0001c0001t0068g0143 a0001c0001t0069g0144	3	60	0.0500	25	c.-25 others(36): Show c.-2578_-2577insTTGTCATATATATGTGTCATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34909588	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18522.hp1 HG02818.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0139 a0001c0001t0027g0103 a0001c0001t0004g0139 a0001c0001t0027g0103	2	105	0.0190	25	c.59- others(42): Show c.59-16626_59-16625insTTTTTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01169.hp2 HG02615.hp1 others(2): Show HG00642.hp1 HG01169.hp2 HG02615.hp1 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0003 a0001c0005t0002	a0001c0001t0001g0123 a0001c0001t0002g0012 a0001c0001t0011g0003 others(2): Show a0001c0001t0001g0123 a0001c0001t0002g0012 a0001c0001t0011g0003 a0001c0002t0003g0142 a0001c0005t0002g0107	5	18	0.2778	25	c.59- others(42): Show c.59-74381_59-74357dupTTTTTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX3_chr1_24894511_24935276	24907897	C C	CTAAACCT others(18): Show CTAAACCTCTACAACACGCGGTGATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0156	1	384	0.0026	25	c.545 others(40): Show c.545-481_545-480insCATCACCGCGTGTTGTAGAGGTTTA	RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding	3/4			chr1	TogoVar
RUNX3_chr1_24894511_24935276	24908158	C C	CGACACGC others(18): Show CGACACGCGGTGATCCGAACCTCTAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0181 a0001c0001t0010g0181	1	384	0.0026	25	c.545 others(40): Show c.545-742_545-741insATAGAGGTTCGGATCACCGCGTGTC	RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding	3/4			chr1	TogoVar
RUNX3_chr1_24894511_24935276	24908183	C C	CGACACGC others(18): Show CGACACGCGGTGATCCGAACCTCTAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	193	0.0052	25	c.545 others(40): Show c.545-767_545-766insATAGAGGTTCGGATCACCGCGTGTC	RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding	3/4			chr1	TogoVar
RWDD2B_chr21_28999384_29024349	29012270	T T	TGTACCCA others(18): Show TGTACCCAACAGCTCACTGAGAACGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	436	0.0023	25	c.68- others(40): Show c.68-3674_68-3650dupCCGTTCTCAGTGAGCTGTTGGGTAC	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	5	0.2000	25	c.535 others(42): Show c.535-1972_535-1948dupTTTTTTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	25	0.0400	25	c.49+ others(42): Show c.49+20085_49+20086insATATATATATATATTTTTTTTTTTT	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(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	206	0.0049	25	c.49+ others(42): Show c.49+20085_49+20086insATATATATATATATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17			chr4	TogoVar
RYK_chr3_134152133_134255859	134199972	C C	CACCAATC others(18): Show CACCAATCAGCACTCTGTAAAAACAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	373	0.0027	25	c.788 others(42): Show c.788+2733_788+2757dupCTGTTTTTACAGAGTGCTGATTGGT	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	6/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38520693	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0203 a0005c0007t0002g0203	1	114	0.0088	25	c.102 others(46): Show c.10259+1241_10259+1265dupAAAAAAAAAAAAAAAAAAAAAAAA A	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	67/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237117671	C C	CCTTCTCT others(18): Show CCTTCTCTTCTCTTCTCTTCTCTTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03831.hp2 HG02572.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0027 a0002c0038 a0001c0027 a0002c0038	a0001c0027t0002 a0002c0038t0040 a0001c0027t0002 a0002c0038t0040	a0001c0027t0002g0085 a0002c0038t0040g0096 a0001c0027t0002g0085 a0002c0038t0040g0096	2	10	0.2000	25	c.48+ others(42): Show c.48+75165_48+75189dupTCTCTTCTCTTCTCTTCTCTTCTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(18): Show CCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp1 NA19066.hp2 HG02055.hp2 HG03471.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0001t0015 a0001c0007t0001 a0001c0001t0004 a0001c0001t0015 a0001c0007t0001	a0001c0001t0004g0036 a0001c0001t0015g0069 a0001c0007t0001g0020 a0001c0001t0004g0036 a0001c0001t0015g0069 a0001c0007t0001g0020	3	11	0.2727	25	c.49- others(42): Show c.49-32534_49-32510dupTTTCCTTTCCTTTCCTTTCCTTTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237262245	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0030 a0001c0016t0030	a0001c0016t0030g0024 a0001c0016t0030g0024	1	6	0.1667	25	c.49- others(40): Show c.49-8249_49-8225dupTTTTTTTTTTTTTTTTTTTTTTTTT	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(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0065 a0001c0003t0002g0065	1	71	0.0141	25	c.274 others(42): Show c.274-9581_274-9580insAAAAAAAAAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237406157	T T	TCCCTTCC others(18): Show TCCCTTCCCTTCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(33): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01496.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG03017.hp2 HG03098.hp1 HG03453.hp1 HG03831.hp1 HG03831.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA18962.hp2 NA19066.hp1 NA19066.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0026 a0001c0027 a0001c0028 a0001c0036 a0001c0040 a0001c0042 a0002c0009 a0002c0012 a0003c0006 a0003c0013 a0003c0043 a0007c0033	a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 others(28): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0011 a0001c0005t0006 a0001c0005t0013 a0001c0007t0001 a0001c0007t0021 a0001c0008t0025 a0001c0011t0041 a0001c0026t0004 a0001c0027t0002 a0001c0028t0007 a0001c0036t0003 a0001c0040t0036 a0001c0042t0017 a0002c0009t0002 a0002c0009t0004 a0002c0009t0008 a0002c0012t0020 a0003c0006t0004 a0003c0013t0003 a0003c0043t0002 a0007c0033t0008	a0001c0001t0007g0011 a0001c0002t0001g0070 a0001c0002t0001g0075 others(33): Show a0001c0001t0007g0011 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0002g0022 a0001c0002t0002g0076 a0001c0002t0010g0021 a0001c0003t0001g0063 a0001c0003t0001g0078 a0001c0003t0003g0084 a0001c0003t0004g0016 a0001c0003t0004g0060 a0001c0004t0001g0058 a0001c0004t0002g0092 a0001c0004t0004g0045 a0001c0004t0011g0047 a0001c0004t0011g0093 a0001c0005t0006g0029 a0001c0005t0013g0061 a0001c0007t0001g0020 a0001c0007t0021g0048 a0001c0008t0025g0039 a0001c0011t0041g0054 a0001c0026t0004g0055 a0001c0027t0002g0085 a0001c0028t0007g0062 a0001c0036t0003g0038 a0001c0040t0036g0095 a0001c0042t0017g0050 a0002c0009t0002g0079 a0002c0009t0004g0067 a0002c0009t0008g0040 a0002c0012t0020g0074 a0003c0006t0004g0087 a0003c0013t0003g0086 a0003c0043t0002g0068 a0007c0033t0008g0049	36	67	0.5373	25	c.774 others(44): Show c.774-10878_774-10877insCCCCTCCCCTCCCCTTCCCTTCCCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01928.hp1 HG02572.hp2 others(1): Show HG01496.hp1 HG01928.hp1 HG02572.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0024 a0001c0002 a0001c0003 a0002c0024	a0001c0002t0002 a0001c0002t0028 a0001c0003t0002 others(1): Show a0001c0002t0002 a0001c0002t0028 a0001c0003t0002 a0002c0024t0005	a0001c0002t0002g0022 a0001c0002t0028g0033 a0001c0003t0002g0090 others(1): Show a0001c0002t0002g0022 a0001c0002t0028g0033 a0001c0003t0002g0090 a0002c0024t0005g0013	4	27	0.1481	25	c.100 others(44): Show c.1006-4841_1006-4840insTTTTTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237623386	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0004 a0001c0005t0014g0004	1	76	0.0132	25	c.591 others(42): Show c.5917-379_5917-378insCTTTCTTTCTTTCTTTCTTTCTTTC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237631613	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0001 a0001c0001t0038g0001	1	6	0.1667	25	c.655 others(41): Show c.6555+80_6555+104dupTTTTTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	42/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33325616	T T	TTCTTTCC others(18): Show TTCTTTCCTTTTCTTTTCTTTTCCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02738.hp2 HG01261.hp1 HG02738.hp2	a0001 a0001	a0001c0004 a0001c0101 a0001c0004 a0001c0101	a0001c0004t0001 a0001c0101t0001 a0001c0004t0001 a0001c0101t0001	a0001c0004t0001g0127 a0001c0101t0001g0128 a0001c0004t0001g0127 a0001c0101t0001g0128	2	152	0.0132	25	c.51+ others(42): Show c.51+14545_51+14569dupCTCTTTCCTTTTCTTTTCTTTTCCT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0095 a0001c0095	a0001c0095t0001 a0001c0095t0001	a0001c0095t0001g0041 a0001c0095t0001g0041	1	79	0.0127	25	c.983 others(44): Show c.9830+1201_9830+1202insATATATATATATATATATATATTTT	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(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18959.hp1 HG01261.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0096 a0001c0015t0001g0118 a0001c0001t0001g0096 a0001c0015t0001g0118	2	131	0.0153	25	c.983 others(44): Show c.9830+1201_9830+1202insATATATATATATATATATATATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103			chr15	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGACG others(18): Show AGGGGACGGCGGGAGGGGGGGGCGGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	41	0.0244	25	c.-1- others(38): Show c.-1-977_-1-976insCCCGCCCCCCCCTCCCGCCGTCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(18): Show AGGGGGTGGGGGGAGGGGGGGGCGGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0192 a0001c0002t0004g0192	1	41	0.0244	25	c.-1- others(38): Show c.-1-977_-1-976insCCCGCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100Z_chr5_76845014_76926650	76914379	C C	CACCAATC others(18): Show CACCAATCAGCACTCTGTAAAAACGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(220): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(19): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0003t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0006 a0002c0001t0007 a0002c0001t0012 a0002c0001t0014 a0002c0001t0019	a0001c0002t0001g0017 a0001c0002t0001g0043 a0001c0002t0001g0044 others(216): Show a0001c0002t0001g0017 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0055 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0077 a0001c0002t0001g0087 a0001c0002t0001g0150 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0184 a0001c0002t0001g0193 a0001c0002t0001g0217 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0285 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0303 a0001c0002t0001g0329 a0001c0002t0002g0020 a0001c0002t0003g0019 a0001c0002t0003g0023 a0001c0002t0003g0046 a0001c0002t0003g0048 a0001c0002t0003g0069 a0001c0002t0003g0114 a0001c0002t0003g0119 a0001c0002t0003g0123 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0247 a0001c0002t0003g0253 a0001c0002t0003g0264 a0001c0002t0003g0283 a0001c0002t0003g0297 a0001c0002t0003g0299 a0001c0002t0005g0010 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0168 a0001c0002t0005g0169 a0001c0002t0005g0170 a0001c0002t0005g0171 a0001c0002t0005g0174 a0001c0002t0006g0070 a0001c0002t0006g0104 a0001c0002t0006g0216 a0001c0002t0007g0052 a0001c0002t0007g0053 a0001c0002t0007g0317 a0001c0002t0008g0180 a0001c0002t0008g0181 a0001c0002t0008g0182 a0001c0002t0008g0183 a0001c0002t0009g0138 a0001c0002t0009g0139 a0001c0002t0009g0261 a0001c0002t0013g0134 a0001c0002t0013g0258 a0001c0002t0015g0143 a0001c0002t0016g0145 a0001c0002t0018g0338 a0001c0003t0003g0298 a0002c0001t0001g0002 a0002c0001t0001g0004 a0002c0001t0001g0005 a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0025 a0002c0001t0001g0026 a0002c0001t0001g0033 a0002c0001t0001g0045 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0064 a0002c0001t0001g0072 a0002c0001t0001g0074 a0002c0001t0001g0078 a0002c0001t0001g0079 a0002c0001t0001g0080 a0002c0001t0001g0090 a0002c0001t0001g0095 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0120 a0002c0001t0001g0122 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0154 a0002c0001t0001g0160 a0002c0001t0001g0175 a0002c0001t0001g0185 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0190 a0002c0001t0001g0191 a0002c0001t0001g0194 a0002c0001t0001g0196 a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0200 a0002c0001t0001g0201 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0001g0215 a0002c0001t0001g0218 a0002c0001t0001g0227 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0273 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0001g0276 a0002c0001t0001g0277 a0002c0001t0001g0278 a0002c0001t0001g0280 a0002c0001t0001g0281 a0002c0001t0001g0284 a0002c0001t0001g0288 a0002c0001t0001g0292 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0295 a0002c0001t0001g0302 a0002c0001t0001g0313 a0002c0001t0001g0316 a0002c0001t0001g0318 a0002c0001t0001g0320 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0002g0249 a0002c0001t0003g0016 a0002c0001t0003g0035 a0002c0001t0003g0040 a0002c0001t0003g0047 a0002c0001t0003g0059 a0002c0001t0003g0071 a0002c0001t0003g0073 a0002c0001t0003g0076 a0002c0001t0003g0089 a0002c0001t0003g0118 a0002c0001t0003g0125 a0002c0001t0003g0126 a0002c0001t0003g0127 a0002c0001t0003g0128 a0002c0001t0003g0129 a0002c0001t0003g0130 a0002c0001t0003g0131 a0002c0001t0003g0132 a0002c0001t0003g0133 a0002c0001t0003g0153 a0002c0001t0003g0162 a0002c0001t0003g0163 a0002c0001t0003g0167 a0002c0001t0003g0172 a0002c0001t0003g0176 a0002c0001t0003g0207 a0002c0001t0003g0208 a0002c0001t0003g0209 a0002c0001t0003g0210 a0002c0001t0003g0211 a0002c0001t0003g0212 a0002c0001t0003g0214 a0002c0001t0003g0248 a0002c0001t0003g0255 a0002c0001t0003g0263 a0002c0001t0003g0266 a0002c0001t0003g0269 a0002c0001t0003g0311 a0002c0001t0003g0321 a0002c0001t0003g0327 a0002c0001t0003g0333 a0002c0001t0005g0144 a0002c0001t0006g0051 a0002c0001t0006g0088 a0002c0001t0006g0140 a0002c0001t0006g0222 a0002c0001t0006g0223 a0002c0001t0006g0265 a0002c0001t0007g0065 a0002c0001t0007g0262 a0002c0001t0012g0014 a0002c0001t0012g0189 a0002c0001t0014g0179 a0002c0001t0019g0268	223	339	0.6578	25	c.3- others(40): Show c.3-6317_*3-6316insACGGACCAATCAGCACTCTGTAAAA	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76914379	C C	CACCAATC others(18): Show CACCAATCAGCACTCTGTAAAAATGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02559.hp1 HG02895.hp1 others(4): Show HG01496.hp2 HG02559.hp1 HG02895.hp1 HG02897.hp2 HG03579.hp1 NA18522.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0003 a0001c0002t0001 a0002c0001t0001 a0002c0001t0003	a0001c0002t0001g0056 a0002c0001t0001g0049 a0002c0001t0001g0050 others(4): Show a0001c0002t0001g0056 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0124 a0002c0001t0003g0024 a0002c0001t0003g0030 a0002c0001t0003g0032	7	123	0.0569	25	c.3- others(40): Show c.3-6317_*3-6316insATGGACCAATCAGCACTCTGTAAAA	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SAA1_chr11_18261264_18274967	18264773	A A	AGAGGGGA others(18): Show AGAGGGGAGGGGAGGGGAGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 NA18999.hp2 HG03831.hp1 NA18999.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0007 a0003c0003 a0005c0007	a0003c0003t0001 a0005c0007t0001 a0003c0003t0001 a0005c0007t0001	a0003c0003t0001g0003 a0005c0007t0001g0012 a0003c0003t0001g0003 a0005c0007t0001g0012	2	308	0.0065	25	c.-15 others(36): Show c.-1528_-1527insGAGGGGAGGGGAGGGGAGGGGAGGG	SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding		1490		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0037 a0003c0003t0001g0037	1	221	0.0045	25	c.37 others(36): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTCTTTC	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18096096	A A	AGGGGGGG others(18): Show AGGGGGGGGGGGAGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0115 a0003c0003t0001g0115	1	282	0.0035	25	c.333 others(40): Show c.333+674_333+675insCCCCCCCCCCCCCTCCCCCCCCCCC	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding	3/11			chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG03130.hp2 HG03688.hp2 others(1): Show HG01515.hp2 HG03130.hp2 HG03688.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0044 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0044	4	175	0.0229	25	c.-22 others(36): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG02145.hp1 HG01258.hp2 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	2	54	0.0370	25	c.-28 others(36): Show c.-2803_-2802insTATATATATATATATATATATTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02257.hp2 NA19070.hp1 HG00323.hp1 HG02257.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0010 a0001c0002t0002g0128 a0001c0002t0005g0011 a0001c0002t0002g0010 a0001c0002t0002g0128 a0001c0002t0005g0011	3	55	0.0545	25	c.-28 others(36): Show c.-2803_-2802insTATATATATATATATATATTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar

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