Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01975.hp1 HG03130.hp1 others(3): Show HG00639.hp2 HG01975.hp1 HG03130.hp1 NA18964.hp2 NA19063.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0158 a0001c0001t0001g0159 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0286 a0001c0001t0001g0296	6	10	0.6000	32	c.535 others(49): Show c.535-1979_535-1948dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02896.hp1 HG02523.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0136 a0001c0001t0001g0138	2	26	0.0769	32	c.49+ others(49): Show c.49+20085_49+20086insATATATATATATATATATATATATATTT TTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158650432	A A	AATATATA others(25): Show AATATATATATATATAAATATATATAAATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	123	0.0081	32	c.197 others(51): Show c.1976-1310_1976-1309insAATATATATAAATATATATATATATA TATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RYR1_chr19_38428691_38592564	38484438	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTCTCTCCCTCCCTCACTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01884.hp1 others(24): Show HG01070.hp1 HG01109.hp1 HG01884.hp1 HG02080.hp2 HG02109.hp2 HG02257.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03486.hp1 HG03579.hp2 NA18951.hp2 NA18980.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19067.hp1 NA19068.hp2	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0013 a0015 a0018 a0021 a0022 a0029 a0030	a0001c0011 a0001c0019 a0001c0020 others(19): Show a0001c0011 a0001c0019 a0001c0020 a0001c0049 a0001c0052 a0001c0056 a0001c0058 a0001c0059 a0001c0066 a0001c0069 a0001c0108 a0003c0051 a0004c0015 a0004c0072 a0004c0115 a0013c0048 a0015c0080 a0018c0073 a0021c0086 a0022c0057 a0029c0081 a0030c0041	a0001c0011t0001 a0001c0019t0002 a0001c0020t0001 others(19): Show a0001c0011t0001 a0001c0019t0002 a0001c0020t0001 a0001c0049t0003 a0001c0052t0003 a0001c0056t0001 a0001c0058t0001 a0001c0059t0001 a0001c0066t0001 a0001c0069t0001 a0001c0108t0001 a0003c0051t0003 a0004c0015t0001 a0004c0072t0001 a0004c0115t0004 a0013c0048t0001 a0015c0080t0001 a0018c0073t0001 a0021c0086t0001 a0022c0057t0002 a0029c0081t0001 a0030c0041t0001	a0001c0011t0001g0003 a0001c0011t0001g0004 a0001c0011t0001g0017 others(24): Show a0001c0011t0001g0003 a0001c0011t0001g0004 a0001c0011t0001g0017 a0001c0019t0002g0218 a0001c0020t0001g0191 a0001c0020t0001g0194 a0001c0049t0003g0039 a0001c0052t0003g0040 a0001c0056t0001g0036 a0001c0058t0001g0002 a0001c0059t0001g0193 a0001c0066t0001g0085 a0001c0069t0001g0041 a0001c0108t0001g0035 a0003c0051t0003g0038 a0004c0015t0001g0042 a0004c0015t0001g0196 a0004c0015t0001g0197 a0004c0072t0001g0136 a0004c0115t0004g0216 a0013c0048t0001g0070 a0015c0080t0001g0142 a0018c0073t0001g0137 a0021c0086t0001g0015 a0022c0057t0002g0207 a0029c0081t0001g0143 a0030c0041t0001g0068	27	215	0.1256	32	c.493 others(49): Show c.4934+931_4934+962dupCCTTCCTCTCTCCCTCCCTCACTTCCTT CCTT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	33/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590394	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0114 a0001c0029t0001g0114	1	109	0.0092	32	c.29 others(43): Show c.2974_*2975insAAAAAAAAAAAAATATATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2831		chr19	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(25): Show CCCTTTCCTTTCCCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0082 a0001c0001t0007g0082	1	9	0.1111	32	c.49- others(49): Show c.49-32540_49-32539insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237710699	G G	GTAGATAG others(25): Show GTAGATAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02572.hp1 others(1): Show HG01168.hp1 HG01169.hp2 HG02572.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0009 a0002c0012 others(1): Show a0001c0008 a0002c0009 a0002c0012 a0002c0038	a0001c0008t0024 a0002c0009t0002 a0002c0012t0002 others(1): Show a0001c0008t0024 a0002c0009t0002 a0002c0012t0002 a0002c0038t0040	a0001c0008t0024g0081 a0002c0009t0002g0079 a0002c0012t0002g0072 others(1): Show a0001c0008t0024g0081 a0002c0009t0002g0079 a0002c0012t0002g0072 a0002c0038t0040g0096	4	17	0.2353	32	c.102 others(53): Show c.10231-1028_10231-1027insGATAGATAGATAGATAGATAGATA GATAGATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	70/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33464499	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0149 a0004c0006t0001g0149	1	124	0.0081	32	c.52- others(47): Show c.52-8915_52-8914insTATATATATATATATATATACACATACATA TA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664587	G G	GTATGTAT others(25): Show GTATGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18906.hp2 HG02896.hp1 NA18906.hp2	a0036 a0048 a0036 a0048	a0036c0064 a0048c0118 a0036c0064 a0048c0118	a0036c0064t0003 a0048c0118t0003 a0036c0064t0003 a0048c0118t0003	a0036c0064t0003g0052 a0048c0118t0003g0048 a0036c0064t0003g0052 a0048c0118t0003g0048	2	148	0.0135	32	c.561 others(49): Show c.5619+851_5619+852insATGTATATATATATATATATATATATAT ATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTATGTAT others(25): Show GTATGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0133 a0001c0047t0001g0133	1	30	0.0333	32	c.561 others(49): Show c.5619+855_5619+856insGTATATATATATATATATATATATATAT ATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0001 a0014c0027t0001	a0014c0027t0001g0046 a0014c0027t0001g0046	1	30	0.0333	32	c.561 others(49): Show c.5619+853_5619+854insGTGTATATATATATATATATATATATAT ATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789986	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0011 a0001c0046t0011	a0001c0046t0011g0066 a0001c0046t0011g0066	1	50	0.0200	32	c.983 others(51): Show c.9830+1551_9830+1552insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGGG others(25): Show AGGGGGGGGCGGGGGGGGGTGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	41	0.0244	32	c.-1- others(45): Show c.-1-977_-1-976insCCCCCCCGCCCCCACCCCCCCCCGCCCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGGT others(25): Show AGGGGGGTGGGGGGAGGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	41	0.0244	32	c.-1- others(45): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCCTCCCCCCACCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(25): Show AGGGGGTGGGGGGAGGGGGGGGGCGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01071.hp1 HG03710.hp1 others(4): Show HG00558.hp2 HG01071.hp1 HG03710.hp1 HG03831.hp1 NA18961.hp2 NA19004.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0035 a0001c0001t0006g0090 a0001c0002t0001g0121 others(3): Show a0001c0001t0001g0035 a0001c0001t0006g0090 a0001c0002t0001g0121 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0003g0208	7	47	0.1489	32	c.-1- others(45): Show c.-1-977_-1-976insCCCCCCCCCGCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(25): Show AGGGGGTGGGGGGGAGGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp2 HG01109.hp1 HG00544.hp1 HG01106.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0136 a0001c0001t0001g0169 a0001c0002t0002g0068 a0001c0001t0001g0136 a0001c0001t0001g0169 a0001c0002t0002g0068	3	43	0.0698	32	c.-1- others(45): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCCTCCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(25): Show AGGGGGTGGGGGGTGGGGGGGGGCGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	41	0.0244	32	c.-1- others(45): Show c.-1-977_-1-976insCCCCCCCCCGCCCCCCCCCACCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100PBP_chr1_32812653_32863875	32824827	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02109.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0286 a0001c0001t0003g0287	2	20	0.1000	32	c.-11 others(49): Show c.-119-467_-119-466insTATATATATATATATATATATATATATA TATA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
S1PR4_chr19_3173769_3185332	3176804	C C	CCAGACCC others(25): Show CCAGACCCCAGGGCAAGGCTGAGCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(165): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18983.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0012 a0001c0014 a0002c0004 a0003c0005 a0004c0008 a0005c0015 a0006c0013 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0002c0004t0001 a0003c0005t0001 a0004c0008t0001 a0005c0015t0001 a0006c0013t0001 a0008c0010t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 others(11): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0006t0001g0000 a0001c0011t0001g0000 a0001c0012t0001g0000 a0001c0014t0001g0000 a0002c0004t0001g0000 a0003c0005t0001g0000 a0004c0008t0001g0000 a0005c0015t0001g0000 a0006c0013t0001g0000 a0008c0010t0001g0000	168	328	0.5122	32	c.-19 others(43): Show c.-1989_-1988insCAGACCCCAGGGCAAGGCTGAGCCTCCCTCCT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1964		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3176804	C C	CCAGACCC others(25): Show CCAGACCCCAGGGCCAGGCTGAGCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	161	0.0062	32	c.-19 others(43): Show c.-1989_-1988insCAGACCCCAGGGCCAGGCTGAGCCTCCCTCCT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1964		chr19	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	254	0.0039	32	c.-33 others(43): Show c.-3377_-3376insAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02273.hp2 HG01496.hp1 HG02273.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0032 a0002c0002t0001g0015 a0001c0001t0001g0032 a0002c0002t0001g0015	2	255	0.0078	32	c.-33 others(43): Show c.-3377_-3376insAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	254	0.0039	32	c.-33 others(43): Show c.-3377_-3376insAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	53	0.0189	32	c.-28 others(43): Show c.-2803_-2802insTATATATATATATATATATATATATTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG03017.hp2 HG03209.hp2 HG00735.hp1 HG03017.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0001c0002t0006 a0002c0001t0009 a0001c0002t0003 a0001c0002t0006 a0002c0001t0009	a0001c0002t0003g0139 a0001c0002t0006g0148 a0002c0001t0009g0104 a0001c0002t0003g0139 a0001c0002t0006g0148 a0002c0001t0009g0104	3	55	0.0545	32	c.-28 others(43): Show c.-2803_-2802insTATATATATATATATATATATTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	53	0.0189	32	c.-28 others(43): Show c.-2803_-2802insTATATATATATATATATATTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02056.hp1 HG02155.hp2 others(1): Show HG00733.hp2 HG02056.hp1 HG02155.hp2 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005	a0001c0002t0002g0149 a0001c0002t0003g0155 a0001c0002t0005g0037 others(1): Show a0001c0002t0002g0149 a0001c0002t0003g0155 a0001c0002t0005g0037 a0001c0002t0005g0169	4	56	0.0714	32	c.-28 others(43): Show c.-2803_-2802insTATATATATATATATATTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45748591	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0234 a0002c0001t0001g0234	1	35	0.0286	32	c.49 others(43): Show c.4922_*4923insATATATATATATATATATATATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		3183		chr3	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0340 a0001c0003t0001g0340	1	121	0.0083	32	c.20+ others(49): Show c.20+12200_20+12201insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAMD11_chr1_918923_949574	934875	C C	CGGGGGGG others(25): Show CGGGGGGGAGGCGGCTGCGTTACAGGTGGGCGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0015 a0007c0016t0015	a0007c0016t0015g0261 a0007c0016t0015g0261	1	417	0.0024	32	c.843 others(47): Show c.843-892_843-891insGGAGGCGGCTGCGTTACAGGTGGGCGGGGG GG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54678430	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	260	0.0038	32	c.197 others(51): Show c.197-23632_197-23631insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12			chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724003	T T	TGGAAGGA others(25): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0003 a0001c0001t0039g0003	1	222	0.0045	32	c.716 others(51): Show c.716-13018_716-13017insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(25): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19081.hp1 HG00735.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0155 a0001c0001t0015g0126 a0001c0001t0002g0155 a0001c0001t0015g0126	2	63	0.0317	32	c.716 others(51): Show c.716-13004_716-12973dupGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CCCTTTCT others(25): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG01071.hp1 HG01099.hp1 others(17): Show HG00438.hp2 HG01071.hp1 HG01099.hp1 HG01358.hp2 HG01515.hp1 HG02074.hp2 HG02135.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03927.hp1 HG04199.hp1 NA18951.hp2 NA18957.hp1 NA19010.hp2 NA19056.hp1 NA19068.hp2 NA19074.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0159 a0001c0001t0002g0167 a0001c0001t0002g0169 others(17): Show a0001c0001t0002g0159 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0187 a0001c0001t0002g0201 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0290 a0001c0001t0002g0309 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0145 a0001c0001t0008g0137	20	39	0.5128	32	c.25 others(43): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02970.hp1 others(4): Show HG02622.hp1 HG02818.hp2 HG02970.hp1 HG03041.hp2 HG03453.hp2 HG03831.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 others(4): Show a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0003g0260 a0001c0001t0003g0268 a0001c0001t0005g0281 a0001c0001t0007g0244	7	26	0.2692	32	c.25 others(43): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	74	0.0135	32	c.870 others(49): Show c.870-3535_870-3504dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02258.hp1 HG02027.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0200 a0001c0001t0002g0083 a0001c0001t0002g0200	2	14	0.1429	32	c.995 others(47): Show c.995-649_995-648insAAAAAAAAAAAAAAAATATATATATATATA TA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	13	0.0769	32	c.995 others(47): Show c.995-649_995-648insAAAAAAAAAAAAAAAAAATATATATATATA TA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133669010	C C	CCCCTTAC others(25): Show CCCCTTACCCTCCCTCTCCCTCTCCTTCCCTCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03492.hp1 HG03516.hp1 others(2): Show HG02683.hp2 HG03492.hp1 HG03516.hp1 NA18980.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0020 a0001c0001t0001g0063 a0002c0002t0001g0002 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0063 a0002c0002t0001g0002 a0002c0002t0001g0260	5	251	0.0199	32	c.249 others(51): Show c.2495+1573_2495+1574insAGAGGGAAGGAGAGGGAGAGGGAGGG TAAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669032	A A	ACCCTCCC others(25): Show ACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp2 others(9): Show HG00099.hp1 HG00280.hp1 HG00639.hp2 HG00738.hp1 HG01346.hp2 HG01981.hp2 HG02293.hp2 HG03239.hp2 HG03654.hp1 NA18906.hp2 NA18983.hp1 NA19065.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0011 others(3): Show a0001c0001 a0001c0006 a0001c0011 a0002c0002 a0002c0005 a0003c0003	a0001c0001t0002 a0001c0006t0002 a0001c0011t0002 others(3): Show a0001c0001t0002 a0001c0006t0002 a0001c0011t0002 a0002c0002t0002 a0002c0005t0002 a0003c0003t0002	a0001c0001t0002g0163 a0001c0006t0002g0148 a0001c0006t0002g0152 others(9): Show a0001c0001t0002g0163 a0001c0006t0002g0148 a0001c0006t0002g0152 a0001c0011t0002g0098 a0001c0011t0002g0099 a0002c0002t0002g0129 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0005t0002g0094 a0002c0005t0002g0097 a0002c0005t0002g0130 a0003c0003t0002g0050	12	228	0.0526	32	c.249 others(51): Show c.2495+1551_2495+1552insAGAGAGAGAGGGAGGGTGAGGGAGAG GGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669148	C C	CTCCCTCT others(25): Show CTCCCTCTCCCTCACCTTCCCTCTCCCTCACCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02451.hp2 HG01071.hp1 HG02451.hp2	a0001 a0008 a0001 a0008	a0001c0031 a0008c0039 a0001c0031 a0008c0039	a0001c0031t0001 a0008c0039t0001 a0001c0031t0001 a0008c0039t0001	a0001c0031t0001g0243 a0008c0039t0001g0128 a0001c0031t0001g0243 a0008c0039t0001g0128	2	237	0.0084	32	c.249 others(51): Show c.2495+1404_2495+1435dupAGGTGAGGGAGAGGGAAGGTGAGGGA GAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669252	C C	CCCTCACC others(25): Show CCCTCACCCTCCATCTCCCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0006 a0006	a0006c0062 a0006c0062	a0006c0062t0001 a0006c0062t0001	a0006c0062t0001g0040 a0006c0062t0001g0040	1	256	0.0039	32	c.249 others(51): Show c.2495+1331_2495+1332insAGAGGGAGGGTGAGGGGAGATGGAGG GTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133734428	C C	CTCATTCA others(25): Show CTCATTCATTCATTCACTCATTCATTCACTCAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp2 HG01516.hp1 others(2): Show HG00733.hp2 HG01106.hp2 HG01516.hp1 HG02683.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0002c0010 a0001c0006 a0002c0004 a0002c0010	a0001c0006t0001 a0002c0004t0001 a0002c0010t0001 a0001c0006t0001 a0002c0004t0001 a0002c0010t0001	a0001c0006t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0139 others(2): Show a0001c0006t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0139 a0002c0010t0001g0138 a0002c0010t0001g0140	5	169	0.0296	32	c.-30 others(47): Show c.-30-226_-30-225insATGAGTGAATGAATGAGTGAATGAATGAAT GA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	1/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109219262	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	18	0.0556	32	c.137 others(49): Show c.137-4689_137-4688insTATATATATATATATATATATATATATA TATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SART1_chr11_65956734_65985137	65970845	T T	TGAGCTGC others(25): Show TGAGCTGCTGAGGAGGGGGATGGTGGGATTCAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00544.hp1 others(56): Show HG00099.hp2 HG00140.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01175.hp2 HG01361.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02132.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02809.hp2 HG03098.hp2 NA18939.hp1 NA18945.hp1 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18961.hp2 NA18967.hp2 NA18969.hp1 NA18974.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18992.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0001 a0002c0001t0001 a0001c0006t0001 a0002c0001t0001	a0001c0006t0001g0110 a0001c0006t0001g0112 a0001c0006t0001g0113 others(42): Show a0001c0006t0001g0110 a0001c0006t0001g0112 a0001c0006t0001g0113 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0026 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0089 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0111 a0002c0001t0001g0148 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0154 a0002c0001t0001g0155	59	382	0.1545	32	c.157 others(51): Show c.1572+3030_1572+3031insCTGAGGAGGGGGATGGTGGGATTCAG GAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65970895	G G	GGTGGGAT others(25): Show GGTGGGATTCATGAGCTGCTGAGGAAGGGGATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0069 a0001c0004t0007g0069	1	379	0.0026	32	c.157 others(51): Show c.1572+3084_1572+3085insTGAGCTGCTGAGGAAGGGGATTGTGG GATTCA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65970966	A A	AGCTGAGG others(25): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0170	1	362	0.0028	32	c.157 others(51): Show c.1572+3176_1572+3207dupCTGCTGAGGAGGGGGATGGTGGGATT CATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971068	G G	GGGGGATG others(25): Show GGGGGATGGTGGGATTCATGAGCTGCTGAGGAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02055.hp1 HG02630.hp2 others(9): Show HG01934.hp1 HG02055.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03540.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0007c0014 a0001c0005 a0007c0014	a0001c0005t0001 a0007c0014t0001 a0001c0005t0001 a0007c0014t0001	a0001c0005t0001g0010 a0001c0005t0001g0023 a0001c0005t0001g0031 others(3): Show a0001c0005t0001g0010 a0001c0005t0001g0023 a0001c0005t0001g0031 a0001c0005t0001g0162 a0001c0005t0001g0163 a0007c0014t0001g0161	12	382	0.0314	32	c.157 others(51): Show c.1572+3271_1572+3272insCTGAGGAAGGGGATGGTGGGATTCAT GAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971515	A A	AGCTGAGG others(25): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02015.hp1 HG03491.hp2 others(1): Show HG01123.hp1 HG02015.hp1 HG03491.hp2 NA18950.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0085 a0002c0001t0001g0122 a0002c0001t0001g0141 others(1): Show a0002c0001t0001g0085 a0002c0001t0001g0122 a0002c0001t0001g0141 a0002c0001t0001g0142	4	311	0.0129	32	c.157 others(51): Show c.1572+3696_1572+3727dupCTGAGGAGGGGGATGGTGGGATTCAT GAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971571	T T	TGAGCTGC others(25): Show TGAGCTGCTGAGGAGGGGGATGGTGGGATTCAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA20905.hp2 HG03239.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0039 a0001c0002t0003g0039	2	381	0.0052	32	c.157 others(51): Show c.1572+3760_1572+3761insGGAGGGGGATGGTGGGATTCAGGAGC TGCTGA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar

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