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
RUNDC3B_chr7_87623398_87837296	87736876	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0006 a0001c0001t0075g0006	1	202	0.0050	-13	c.459 others(30): Show c.459-2914_459-2902delATATATATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10			chr7	TogoVar
RUNX1_chr21_34782801_35054302	34823430	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0158 a0001c0001t0015g0158	1	170	0.0059	-13	c.805 others(32): Show c.805+10967_805+10979delAAAAAAAAAAAAA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	7/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0116 a0001c0001t0005g0116	1	170	0.0059	-13	c.59- others(30): Show c.59-74369_59-74357delTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34988538	ACAACTGT others(6): Show ACAACTGTCCTTCC	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	170	0.0059	-13	c.58+ others(30): Show c.58+60291_58+60303delGGAAGGACAGTTG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX2_chr6_45323330_45556082	45399349	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	178	0.0056	-13	c.59- others(30): Show c.59-23228_59-23216delTTTTTTTTTTTTT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45554135	GTGTGTGG others(6): Show GTGTGTGGTGTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00609.hp2 others(34): Show HG00323.hp1 HG00438.hp1 HG00609.hp2 HG01069.hp1 HG01243.hp2 HG01346.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp2 NA18964.hp1 NA18965.hp2 NA19030.hp2 NA19063.hp2 NA19064.hp2 NA19082.hp1 NA19084.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0002t0003 a0001c0006t0001	a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 others(34): Show a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0175 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0002g0166 a0001c0001t0003g0009 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0042 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0001t0003g0074 a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0138 a0001c0001t0003g0150 a0001c0001t0003g0154 a0001c0001t0010g0002 a0001c0001t0010g0129 a0001c0001t0016g0153 a0001c0002t0003g0058 a0001c0006t0001g0108	37	178	0.2079	-13	c.68 others(24): Show c.6831_*6843delTGTGTGGTGTGTA	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding		3054		chr6	TogoVar
RUVBL1_chr3_128075810_128128812	128080146	TAGGGACA others(6): Show TAGGGACACTTCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA19240.hp1 HG02258.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0059 a0001c0001t0006g0077 a0001c0001t0002g0059 a0001c0001t0006g0077	2	360	0.0056	-13	c.10 others(24): Show c.1091_*1103delCTGAAGTGTCCCT	RUVBL1	ENSG00000175792.12	transcript	ENST00000322623.10	protein_coding		663		chr3	TogoVar
RUVBL1_chr3_128075810_128128812	128105865	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp2 HG02630.hp1 others(1): Show HG00639.hp1 HG02109.hp2 HG02630.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0024 a0001c0001t0004g0054 a0001c0001t0004g0055	4	360	0.0111	-13	c.362 others(28): Show c.362-954_362-942delAAAAAAAAAAAAA	RUVBL1	ENSG00000175792.12	transcript	ENST00000322623.10	protein_coding	3/10			chr3	TogoVar
RWDD2B_chr21_28999384_29024349	29003605	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01243.hp1 HG01255.hp2 others(11): Show HG00438.hp2 HG01243.hp1 HG01255.hp2 HG02135.hp2 HG02280.hp2 HG02615.hp1 HG02895.hp2 HG02976.hp2 NA18946.hp1 NA18995.hp1 NA19010.hp1 NA19058.hp2 NA19085.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012	a0001c0001t0001g0002 a0001c0001t0002g0161 a0001c0001t0003g0004 others(11): Show a0001c0001t0001g0002 a0001c0001t0002g0161 a0001c0001t0003g0004 a0001c0001t0003g0022 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0167 a0001c0001t0003g0176 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0193 a0001c0001t0006g0061 a0001c0001t0012g0173	14	438	0.0320	-13	c.27 others(24): Show c.2799_*2811delTTTTTTTTTTTTT	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding		778		chr21	TogoVar
RWDD4_chr4_183634635_183664185	183643415	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00621.hp1 others(31): Show HG00408.hp2 HG00609.hp1 HG00621.hp1 HG01516.hp2 HG01928.hp1 HG02015.hp2 HG02071.hp1 HG02129.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp2 HG04204.hp2 NA18943.hp1 NA18960.hp1 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18987.hp1 NA18995.hp1 NA18997.hp1 NA19003.hp1 NA19054.hp2 NA19058.hp2 NA19074.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0084 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0237 a0001c0001t0001g0248 a0001c0001t0001g0294 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0314 a0001c0001t0001g0337 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0384 a0001c0001t0001g0386 a0001c0001t0001g0393 a0001c0001t0001g0403 a0001c0001t0004g0334 a0001c0001t0017g0229 a0001c0009t0001g0184 a0002c0002t0001g0375	34	480	0.0708	-13	c.535 others(30): Show c.535-1960_535-1948delTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542090	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	210	0.0048	-13	c.49+ others(30): Show c.49+20066_49+20078delATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17			chr4	TogoVar
RYR1_chr19_38428691_38592564	38464278	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2	a0008 a0008	a0008c0035 a0008c0036 a0008c0037 a0008c0035 a0008c0036 a0008c0037	a0008c0035t0002 a0008c0036t0002 a0008c0037t0001 a0008c0035t0002 a0008c0036t0002 a0008c0037t0001	a0008c0035t0002g0214 a0008c0036t0002g0215 a0008c0037t0001g0031 a0008c0035t0002g0214 a0008c0036t0002g0215 a0008c0037t0001g0031	3	218	0.0138	-13	c.278 others(30): Show c.2787-342_2787-330delAAAAAAAAAAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	22/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38520693	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG02897.hp2 others(10): Show HG02559.hp2 HG02647.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03486.hp1 HG03516.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp1	a0001 a0007 a0011 others(3): Show a0001 a0007 a0011 a0018 a0022 a0039	a0001c0010 a0001c0055 a0001c0056 others(6): Show a0001c0010 a0001c0055 a0001c0056 a0001c0058 a0007c0008 a0011c0092 a0018c0085 a0022c0074 a0039c0086	a0001c0010t0001 a0001c0055t0001 a0001c0056t0001 others(6): Show a0001c0010t0001 a0001c0055t0001 a0001c0056t0001 a0001c0058t0001 a0007c0008t0001 a0011c0092t0001 a0018c0085t0001 a0022c0074t0001 a0039c0086t0001	a0001c0010t0001g0003 a0001c0010t0001g0005 a0001c0010t0001g0021 others(10): Show a0001c0010t0001g0003 a0001c0010t0001g0005 a0001c0010t0001g0021 a0001c0055t0001g0137 a0001c0056t0001g0135 a0001c0058t0001g0001 a0007c0008t0001g0006 a0007c0008t0001g0007 a0007c0008t0001g0008 a0011c0092t0001g0023 a0018c0085t0001g0142 a0022c0074t0001g0126 a0039c0086t0001g0143	13	218	0.0596	-13	c.102 others(34): Show c.10259+1253_10259+1265delAAAAAAAAAAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	67/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38531907	GAACAAAA others(6): Show GAACAAAATAAACA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0191 a0002c0006t0001g0191	1	218	0.0046	-13	c.111 others(32): Show c.11142-575_11142-563delTAAACAAACAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	76/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38551025	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01943.hp2 HG02015.hp1 others(14): Show HG01243.hp2 HG01943.hp2 HG02015.hp1 HG02074.hp1 HG03017.hp2 HG03710.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18955.hp1 NA18970.hp2 NA19000.hp2 NA19004.hp2 NA19057.hp1 NA19067.hp1 NA19084.hp1	a0001 a0005 a0009 others(4): Show a0001 a0005 a0009 a0010 a0032 a0034 a0037	a0001c0017 a0001c0027 a0001c0029 others(12): Show a0001c0017 a0001c0027 a0001c0029 a0001c0032 a0001c0064 a0001c0099 a0001c0105 a0001c0124 a0005c0014 a0005c0113 a0009c0109 a0010c0019 a0032c0060 a0034c0028 a0037c0061	a0001c0017t0002 a0001c0027t0001 a0001c0029t0001 others(12): Show a0001c0017t0002 a0001c0027t0001 a0001c0029t0001 a0001c0032t0001 a0001c0064t0001 a0001c0099t0001 a0001c0105t0001 a0001c0124t0001 a0005c0014t0001 a0005c0113t0001 a0009c0109t0001 a0010c0019t0001 a0032c0060t0001 a0034c0028t0001 a0037c0061t0001	a0001c0017t0002g0218 a0001c0027t0001g0074 a0001c0027t0001g0083 others(14): Show a0001c0017t0002g0218 a0001c0027t0001g0074 a0001c0027t0001g0083 a0001c0029t0001g0159 a0001c0032t0001g0180 a0001c0064t0001g0052 a0001c0099t0001g0066 a0001c0105t0001g0192 a0001c0124t0001g0121 a0005c0014t0001g0122 a0005c0113t0001g0042 a0009c0109t0001g0146 a0010c0019t0001g0177 a0010c0019t0001g0178 a0032c0060t0001g0112 a0034c0028t0001g0051 a0037c0061t0001g0044	17	218	0.0780	-13	c.122 others(34): Show c.12282+2632_12282+2644delTTTTTTTTTTTTT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237061283	CTATCTAT others(6): Show CTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0017 a0001c0002t0013g0017	1	100	0.0100	-13	c.48+ others(30): Show c.48+18715_48+18727delTATCTATCTATCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237064712	AGTTTTTT others(6): Show AGTTTTTTGTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(78): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA18962.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(39): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0022 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0036 a0001c0040 a0001c0041 a0001c0042 a0001c0044 a0001c0045 a0001c0047 a0001c0048 a0002c0009 a0002c0012 a0002c0024 a0002c0025 a0002c0031 a0002c0035 a0002c0038 a0002c0039 a0003c0006 a0003c0013 a0003c0043 a0004c0034 a0005c0046 a0007c0033	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(69): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0026 a0001c0002t0031 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0018 a0001c0004t0030 a0001c0005t0006 a0001c0005t0011 a0001c0005t0012 a0001c0005t0034 a0001c0007t0001 a0001c0007t0016 a0001c0007t0019 a0001c0007t0024 a0001c0008t0028 a0001c0008t0042 a0001c0010t0029 a0001c0011t0044 a0001c0014t0035 a0001c0016t0033 a0001c0017t0037 a0001c0018t0032 a0001c0019t0022 a0001c0022t0014 a0001c0026t0004 a0001c0027t0002 a0001c0028t0007 a0001c0029t0008 a0001c0030t0005 a0001c0036t0003 a0001c0040t0039 a0001c0041t0006 a0001c0042t0017 a0001c0044t0002 a0001c0045t0001 a0001c0047t0002 a0001c0048t0001 a0002c0009t0002 a0002c0009t0004 a0002c0009t0008 a0002c0012t0023 a0002c0024t0005 a0002c0025t0040 a0002c0031t0025 a0002c0035t0021 a0002c0038t0043 a0002c0039t0036 a0003c0006t0001 a0003c0006t0002 a0003c0006t0004 a0003c0013t0001 a0003c0013t0003 a0003c0043t0002 a0004c0034t0011 a0005c0046t0010 a0007c0033t0008	a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0003g0023 others(78): Show a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0003g0089 a0001c0001t0003g0100 a0001c0001t0004g0036 a0001c0001t0006g0025 a0001c0001t0007g0011 a0001c0001t0015g0069 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0002g0022 a0001c0002t0003g0008 a0001c0002t0003g0052 a0001c0002t0009g0021 a0001c0002t0026g0059 a0001c0002t0031g0033 a0001c0003t0001g0063 a0001c0003t0001g0078 a0001c0003t0002g0065 a0001c0003t0002g0087 a0001c0003t0003g0084 a0001c0003t0004g0016 a0001c0003t0004g0060 a0001c0003t0005g0018 a0001c0004t0001g0058 a0001c0004t0002g0092 a0001c0004t0004g0045 a0001c0004t0018g0047 a0001c0004t0030g0005 a0001c0005t0006g0029 a0001c0005t0011g0061 a0001c0005t0012g0004 a0001c0005t0034g0028 a0001c0007t0001g0020 a0001c0007t0016g0042 a0001c0007t0019g0057 a0001c0007t0024g0048 a0001c0008t0028g0039 a0001c0008t0042g0002 a0001c0010t0029g0051 a0001c0011t0044g0054 a0001c0014t0035g0031 a0001c0016t0033g0024 a0001c0017t0037g0032 a0001c0018t0032g0041 a0001c0019t0022g0035 a0001c0022t0014g0066 a0001c0026t0004g0055 a0001c0027t0002g0085 a0001c0028t0007g0062 a0001c0029t0008g0090 a0001c0030t0005g0053 a0001c0036t0003g0038 a0001c0040t0039g0095 a0001c0041t0006g0027 a0001c0042t0017g0050 a0001c0044t0002g0014 a0001c0045t0001g0073 a0001c0047t0002g0077 a0001c0048t0001g0007 a0002c0009t0002g0079 a0002c0009t0004g0067 a0002c0009t0008g0040 a0002c0012t0023g0074 a0002c0024t0005g0013 a0002c0025t0040g0003 a0002c0031t0025g0056 a0002c0035t0021g0010 a0002c0038t0043g0096 a0002c0039t0036g0030 a0003c0006t0001g0083 a0003c0006t0002g0006 a0003c0006t0002g0094 a0003c0006t0004g0088 a0003c0013t0001g0091 a0003c0013t0003g0086 a0003c0043t0002g0068 a0004c0034t0011g0043 a0005c0046t0010g0080 a0007c0033t0008g0049	81	100	0.8100	-13	c.48+ others(30): Show c.48+22157_48+22169delGTTTTTTGTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237064751	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02486.hp1 HG02559.hp2 others(7): Show HG01099.hp2 HG02486.hp1 HG02559.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0008 others(7): Show a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0001c0018 a0001c0019 a0001c0028 a0001c0048 a0002c0031 a0002c0035	a0001c0002t0026 a0001c0004t0030 a0001c0008t0042 others(7): Show a0001c0002t0026 a0001c0004t0030 a0001c0008t0042 a0001c0010t0029 a0001c0018t0032 a0001c0019t0022 a0001c0028t0007 a0001c0048t0001 a0002c0031t0025 a0002c0035t0021	a0001c0002t0026g0059 a0001c0004t0030g0005 a0001c0008t0042g0002 others(7): Show a0001c0002t0026g0059 a0001c0004t0030g0005 a0001c0008t0042g0002 a0001c0010t0029g0051 a0001c0018t0032g0041 a0001c0019t0022g0035 a0001c0028t0007g0062 a0001c0048t0001g0007 a0002c0031t0025g0056 a0002c0035t0021g0010	10	100	0.1000	-13	c.48+ others(30): Show c.48+22201_48+22213delTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237157295	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	100	0.0100	-13	c.49- others(32): Show c.49-113188_49-113176delAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237383417	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00738.hp2 others(13): Show HG00408.hp2 HG00609.hp2 HG00738.hp2 HG01074.hp1 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG02055.hp2 HG02293.hp1 HG02293.hp2 HG02572.hp1 HG03831.hp1 NA18946.hp2 NA19066.hp1 NA19066.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0047 a0002c0009 a0002c0038 a0003c0006	a0001c0001t0003 a0001c0001t0015 a0001c0003t0001 others(13): Show a0001c0001t0003 a0001c0001t0015 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 a0001c0004t0020 a0001c0005t0011 a0001c0007t0001 a0001c0008t0028 a0001c0047t0002 a0002c0009t0004 a0002c0038t0043 a0003c0006t0004	a0001c0001t0003g0089 a0001c0001t0015g0069 a0001c0003t0001g0078 others(13): Show a0001c0001t0003g0089 a0001c0001t0015g0069 a0001c0003t0001g0078 a0001c0003t0002g0087 a0001c0003t0003g0084 a0001c0003t0004g0016 a0001c0003t0005g0018 a0001c0004t0001g0058 a0001c0004t0020g0093 a0001c0005t0011g0061 a0001c0007t0001g0020 a0001c0008t0028g0039 a0001c0047t0002g0077 a0002c0009t0004g0067 a0002c0038t0043g0096 a0003c0006t0004g0088	16	100	0.1600	-13	c.577 others(30): Show c.577-3846_577-3834delTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237452074	ATTTTGTG others(6): Show ATTTTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp1 HG03471.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0049 a0002c0035 a0001c0049 a0002c0035	a0001c0049t0009 a0002c0035t0021 a0001c0049t0009 a0002c0035t0021	a0001c0049t0009g0044 a0002c0035t0021g0010 a0001c0049t0009g0044 a0002c0035t0021g0010	2	100	0.0200	-13	c.129 others(32): Show c.1293-2315_1293-2303delTTTGTGTGTGTGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	14/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237619654	TCTTTACC others(6): Show TCTTTACCGAGACA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02280.hp2 HG02486.hp1 others(3): Show HG01981.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG03209.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0008 a0001c0010 others(2): Show a0001c0004 a0001c0008 a0001c0010 a0001c0032 a0002c0038	a0001c0004t0004 a0001c0008t0027 a0001c0010t0004 others(3): Show a0001c0004t0004 a0001c0008t0027 a0001c0010t0004 a0001c0010t0029 a0001c0032t0005 a0002c0038t0043	a0001c0004t0004g0009 a0001c0008t0027g0081 a0001c0010t0004g0097 others(3): Show a0001c0004t0004g0009 a0001c0008t0027g0081 a0001c0010t0004g0097 a0001c0010t0029g0051 a0001c0032t0005g0098 a0002c0038t0043g0096	6	100	0.0600	-13	c.591 others(32): Show c.5916+2170_5916+2182delTTTACCGAGACAC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237631613	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02559.hp2 HG03209.hp2 others(3): Show HG01261.hp2 HG02559.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0016 a0001c0017 a0001c0028	a0001c0002t0003 a0001c0003t0002 a0001c0004t0004 others(3): Show a0001c0002t0003 a0001c0003t0002 a0001c0004t0004 a0001c0016t0033 a0001c0017t0037 a0001c0028t0007	a0001c0002t0003g0052 a0001c0003t0002g0065 a0001c0004t0004g0009 others(3): Show a0001c0002t0003g0052 a0001c0003t0002g0065 a0001c0004t0004g0009 a0001c0016t0033g0024 a0001c0017t0037g0032 a0001c0028t0007g0062	6	100	0.0600	-13	c.655 others(29): Show c.6555+92_6555+104delTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	42/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237827936	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0073 a0001c0045t0001g0073	1	100	0.0100	-13	c.145 others(32): Show c.14591-427_14591-415delAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	101/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237838975	CCTGCTTG others(6): Show CCTGCTTGCAGGGC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0033 a0001c0016t0033	a0001c0016t0033g0024 a0001c0016t0033g0024	1	100	0.0100	-13	c.63 others(24): Show c.6329_*6341delCTGCTTGCAGGGC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding		4988		chr1	TogoVar
RYR3_chr15_33305967_33871102	33335920	AAAACCTA others(6): Show AAAACCTAAAGAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0029 a0001c0003t0006g0029	1	154	0.0065	-13	c.51+ others(30): Show c.51+24837_51+24849delTAAACCTAAAGAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33425637	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG00738.hp1 others(14): Show HG00140.hp2 HG00735.hp1 HG00738.hp1 HG01109.hp1 HG01243.hp1 HG01891.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp1 HG03017.hp1 HG03195.hp2 HG04184.hp1 NA18946.hp1 NA19064.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0028 a0029 a0032 a0040 a0051	a0001c0003 a0001c0004 a0001c0005 others(14): Show a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0079 a0001c0096 a0002c0081 a0003c0122 a0004c0068 a0005c0030 a0007c0026 a0010c0113 a0028c0115 a0029c0050 a0032c0076 a0040c0038 a0051c0060	a0001c0003t0006 a0001c0004t0001 a0001c0005t0003 others(14): Show a0001c0003t0006 a0001c0004t0001 a0001c0005t0003 a0001c0009t0002 a0001c0079t0006 a0001c0096t0001 a0002c0081t0002 a0003c0122t0008 a0004c0068t0001 a0005c0030t0001 a0007c0026t0002 a0010c0113t0003 a0028c0115t0003 a0029c0050t0003 a0032c0076t0001 a0040c0038t0008 a0051c0060t0001	a0001c0003t0006g0029 a0001c0004t0001g0005 a0001c0005t0003g0104 others(14): Show a0001c0003t0006g0029 a0001c0004t0001g0005 a0001c0005t0003g0104 a0001c0009t0002g0132 a0001c0079t0006g0038 a0001c0096t0001g0120 a0002c0081t0002g0023 a0003c0122t0008g0062 a0004c0068t0001g0033 a0005c0030t0001g0007 a0007c0026t0002g0108 a0010c0113t0003g0020 a0028c0115t0003g0011 a0029c0050t0003g0131 a0032c0076t0001g0056 a0040c0038t0008g0016 a0051c0060t0001g0125	17	154	0.1104	-13	c.52- others(30): Show c.52-47772_52-47760delTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33477877	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01071.hp2 others(34): Show HG00140.hp2 HG01070.hp1 HG01071.hp2 HG01243.hp2 HG01496.hp1 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0005 a0007 a0009 a0011 a0012 a0014 a0015 a0027 a0029 a0038 a0039 a0043 a0044 a0045 a0048 a0054	a0001c0037 a0001c0047 a0001c0058 others(32): Show a0001c0037 a0001c0047 a0001c0058 a0001c0121 a0002c0044 a0002c0087 a0002c0088 a0002c0089 a0002c0091 a0002c0120 a0003c0012 a0003c0035 a0003c0085 a0003c0122 a0005c0008 a0005c0030 a0005c0032 a0007c0021 a0007c0026 a0007c0072 a0009c0055 a0011c0123 a0012c0011 a0014c0025 a0014c0027 a0015c0104 a0027c0125 a0029c0050 a0038c0020 a0039c0023 a0043c0024 a0044c0074 a0045c0045 a0048c0119 a0054c0067	a0001c0037t0003 a0001c0047t0001 a0001c0058t0002 others(32): Show a0001c0037t0003 a0001c0047t0001 a0001c0058t0002 a0001c0121t0002 a0002c0044t0003 a0002c0087t0001 a0002c0088t0002 a0002c0089t0008 a0002c0091t0003 a0002c0120t0001 a0003c0012t0003 a0003c0035t0004 a0003c0085t0002 a0003c0122t0008 a0005c0008t0001 a0005c0030t0001 a0005c0032t0003 a0007c0021t0001 a0007c0026t0002 a0007c0072t0004 a0009c0055t0005 a0011c0123t0002 a0012c0011t0009 a0014c0025t0001 a0014c0027t0001 a0015c0104t0002 a0027c0125t0001 a0029c0050t0003 a0038c0020t0001 a0039c0023t0004 a0043c0024t0001 a0044c0074t0002 a0045c0045t0002 a0048c0119t0003 a0054c0067t0004	a0001c0037t0003g0089 a0001c0047t0001g0135 a0001c0058t0002g0073 others(34): Show a0001c0037t0003g0089 a0001c0047t0001g0135 a0001c0058t0002g0073 a0001c0121t0002g0121 a0002c0044t0003g0105 a0002c0087t0001g0039 a0002c0088t0002g0072 a0002c0089t0008g0130 a0002c0091t0003g0154 a0002c0120t0001g0090 a0003c0012t0003g0064 a0003c0012t0003g0113 a0003c0035t0004g0111 a0003c0085t0002g0057 a0003c0122t0008g0062 a0005c0008t0001g0124 a0005c0030t0001g0007 a0005c0032t0003g0071 a0007c0021t0001g0153 a0007c0026t0002g0108 a0007c0072t0004g0045 a0009c0055t0005g0061 a0011c0123t0002g0055 a0012c0011t0009g0066 a0012c0011t0009g0067 a0014c0025t0001g0058 a0014c0027t0001g0046 a0015c0104t0002g0129 a0027c0125t0001g0059 a0029c0050t0003g0131 a0038c0020t0001g0074 a0039c0023t0004g0068 a0043c0024t0001g0109 a0044c0074t0002g0148 a0045c0045t0002g0133 a0048c0119t0003g0048 a0054c0067t0004g0069	37	154	0.2403	-13	c.171 others(30): Show c.171+4356_171+4368delAAAAAAAAAAAAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	2/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33602733	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0010 a0010	a0010c0113 a0010c0113	a0010c0113t0003 a0010c0113t0003	a0010c0113t0003g0020 a0010c0113t0003g0020	1	154	0.0065	-13	c.192 others(30): Show c.1923-373_1923-361delTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	17/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33699310	TTCCTCAC others(6): Show TTCCTCACTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03130.hp1 HG01496.hp1 HG03130.hp1	a0002 a0002	a0002c0089 a0002c0092 a0002c0089 a0002c0092	a0002c0089t0008 a0002c0092t0002 a0002c0089t0008 a0002c0092t0002	a0002c0089t0008g0130 a0002c0092t0002g0144 a0002c0089t0008g0130 a0002c0092t0002g0144	2	154	0.0130	-13	c.625 others(30): Show c.6250-375_6250-363delACTTTCTCTCCTC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	40/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33707814	CAGTTGTT others(6): Show CAGTTGTTCTAAGA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0135 a0001c0047t0001g0135	1	154	0.0065	-13	c.661 others(30): Show c.6619+762_6619+774delGTTGTTCTAAGAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	43/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789648	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0044 a0044	a0044c0074 a0044c0074	a0044c0074t0002 a0044c0074t0002	a0044c0074t0002g0148 a0044c0074t0002g0148	1	154	0.0065	-13	c.983 others(32): Show c.9830+1192_9830+1204delATATATATATTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789654	ATATATTT others(6): Show ATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0127 a0001c0005t0001g0127	1	154	0.0065	-13	c.983 others(32): Show c.9830+1198_9830+1210delATATTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A2_chr1_153556108_153570844	153565682	GCCCCCTC others(6): Show GCCCCCTCCCTCCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	370	0.0027	-13	c.-20 others(22): Show c.-200_-188delGGGAGGGAGGGGG	S100A2	ENSG00000196754.13	transcript	ENST00000368708.9	protein_coding	1/3	1806		chr1	TogoVar
S100A4_chr1_153538621_153550806	153539439	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	350	0.0029	-13	c.43 others(24): Show c.4307_*4319delATTTTTTTTTTTT	S100A4	ENSG00000196154.12	transcript	ENST00000368716.9	protein_coding		4181		chr1	TogoVar
S100A4_chr1_153538621_153550806	153539445	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG03139.hp2 HG02258.hp1 HG02486.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	3	350	0.0086	-13	c.43 others(24): Show c.4301_*4313delATATATATTTTTT	S100A4	ENSG00000196154.12	transcript	ENST00000368716.9	protein_coding		4175		chr1	TogoVar
S100A5_chr1_153532147_153545934	153539439	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0113 a0003c0004t0002g0113	1	378	0.0027	-13	c.138 others(28): Show c.138+602_138+614delATTTTTTTTTTTT	S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding	2/2			chr1	TogoVar
S100A5_chr1_153532147_153545934	153539445	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG03139.hp1 HG02258.hp1 HG02486.hp2 HG03139.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0033 a0003c0004t0002g0033	3	378	0.0079	-13	c.138 others(28): Show c.138+596_138+608delATATATATTTTTT	S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding	2/2			chr1	TogoVar
S100A6_chr1_153529599_153540991	153539439	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	380	0.0026	-13	c.-35 others(24): Show c.-3525_-3513delATTTTTTTTTTTT	S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding		3449		chr1	TogoVar
S100A6_chr1_153529599_153540991	153539445	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02486.hp1 HG03139.hp1 HG02258.hp2 HG02486.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	3	380	0.0079	-13	c.-35 others(24): Show c.-3531_-3519delATATATATTTTTT	S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding		3455		chr1	TogoVar
S100PBP_chr1_32812653_32863875	32842180	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01109.hp1 others(18): Show HG00323.hp1 HG00741.hp2 HG01109.hp1 HG01175.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG02145.hp2 HG02300.hp1 HG02886.hp2 HG03130.hp1 HG03195.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 others(17): Show a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289	21	340	0.0618	-13	c.102 others(34): Show c.1025-10888_1025-10876delAAAAAAAAAAAAA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100P_chr4_6688878_6702170	6701032	AATTGCTA others(6): Show AATTGCTAATTCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	482	0.0021	-13	c.39 others(24): Show c.3991_*4003delATTGCTAATTCAT	S100P	ENSG00000163993.7	transcript	ENST00000296370.4	protein_coding		3863		chr4	TogoVar
S100P_chr4_6688878_6702170	6701033	ATTGCTAA others(6): Show ATTGCTAATTCATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(453): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0002g0001 a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0003t0001g0006 a0002c0005t0001g0003	456	482	0.9461	-13	c.39 others(24): Show c.3992_*4004delTTGCTAATTCATC	S100P	ENSG00000163993.7	transcript	ENST00000296370.4	protein_coding		3864		chr4	TogoVar
S100Z_chr5_76845014_76926650	76864386	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03139.hp1 HG03540.hp2 others(1): Show HG02630.hp1 HG03139.hp1 HG03540.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0030 a0002c0002t0003g0046 a0002c0002t0007g0077 others(1): Show a0002c0002t0003g0030 a0002c0002t0003g0046 a0002c0002t0007g0077 a0002c0002t0007g0078	4	348	0.0115	-13	c.-17 others(32): Show c.-175-5759_-175-5747delTTTTTTTTTTTTT	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S1PR2_chr19_10216433_10236331	10221841	TACCGTAA others(6): Show TACCGTAACATCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0062 a0004c0014t0062	a0004c0014t0062g0128 a0004c0014t0062g0128	1	400	0.0025	-13	c.19 others(24): Show c.1990_*2002delGGGATGTTACGGT	S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding	2/2	1990		chr19	TogoVar
S1PR2_chr19_10216433_10236331	10223168	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02258.hp2 others(10): Show HG01891.hp1 HG01891.hp2 HG02258.hp2 HG02486.hp1 HG02895.hp1 HG02896.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0051 a0001c0002t0007 a0001c0002t0051	a0001c0002t0007g0014 a0001c0002t0007g0020 a0001c0002t0007g0033 others(4): Show a0001c0002t0007g0014 a0001c0002t0007g0020 a0001c0002t0007g0033 a0001c0002t0007g0069 a0001c0002t0007g0097 a0001c0002t0007g0145 a0001c0002t0051g0062	13	400	0.0325	-13	c.66 others(22): Show c.663_*675delTTTTTTTTTTTTT	S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding	2/2	663		chr19	TogoVar
SAA4_chr11_18226355_18241802	18230035	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG02074.hp2 HG03704.hp2 others(4): Show HG01169.hp2 HG02074.hp2 HG03704.hp2 NA18943.hp2 NA18957.hp1 NA18975.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015	7	418	0.0168	-13	c.14 others(24): Show c.1454_*1466delTTTTTTTTTTTTT	SAA4	ENSG00000148965.10	transcript	ENST00000278222.7	protein_coding		1319		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65043615	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp2 HG01884.hp2 others(17): Show HG00642.hp1 HG01243.hp2 HG01884.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03486.hp2 HG03704.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp2 NA18992.hp1 NA19091.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0006 a0003c0004t0002g0023 a0003c0004t0002g0006 a0003c0004t0002g0023	20	352	0.0568	-13	c.575 others(28): Show c.575-594_575-582delAAAAAAAAAAAAA	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
SACS_chr13_23323830_23438702	23409040	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02055.hp1 HG01978.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0003 a0001c0008t0018 a0001c0002t0003 a0001c0008t0018	a0001c0002t0003g0047 a0001c0008t0018g0104 a0001c0002t0003g0047 a0001c0008t0018g0104	2	378	0.0053	-13	c.20+ others(28): Show c.20+2167_20+2179delAAAAAAAAAAAAA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAE1_chr19_47125835_47215636	47164637	ACCTTTTT others(6): Show ACCTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	380	0.0026	-13	c.628 others(30): Show c.628-5180_628-5168delCCTTTTTTTTTTT	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	5/8			chr19	TogoVar

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