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
RPSA2_chr19_23758004_23833868	23768175	TTTTATTT others(12): Show TTTTATTTGTTAAATTTATG	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0179 a0003c0003t0008g0179	1	366	0.0027	-19	c.-30 others(38): Show c.-303+5045_-303+5063delATTTGTTAAATTTATGTTT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
RPTOR_chr17_80539838_80971368	80674787	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG00741.hp1 others(29): Show HG00099.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp2 HG01255.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0001c0005 a0001c0006 others(23): Show a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0016 a0001c0020 a0001c0021 a0001c0025 a0001c0029 a0001c0038 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0045 a0001c0047 a0001c0048 a0001c0057 a0001c0064 a0001c0068 a0001c0088 a0001c0089 a0005c0092	a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 others(28): Show a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 a0001c0005t0083 a0001c0006t0063 a0001c0006t0082 a0001c0006t0087 a0001c0007t0030 a0001c0008t0081 a0001c0009t0006 a0001c0011t0029 a0001c0016t0031 a0001c0020t0093 a0001c0021t0065 a0001c0025t0051 a0001c0025t0052 a0001c0029t0085 a0001c0038t0007 a0001c0040t0066 a0001c0041t0004 a0001c0042t0055 a0001c0043t0008 a0001c0045t0091 a0001c0047t0012 a0001c0048t0073 a0001c0057t0077 a0001c0064t0006 a0001c0068t0025 a0001c0088t0007 a0001c0089t0006 a0005c0092t0012	a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 others(29): Show a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 a0001c0005t0083g0017 a0001c0006t0063g0160 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0007t0030g0018 a0001c0008t0081g0019 a0001c0009t0006g0142 a0001c0011t0029g0196 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0020t0093g0034 a0001c0021t0065g0112 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0029t0085g0012 a0001c0038t0007g0178 a0001c0040t0066g0180 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0008g0176 a0001c0045t0091g0036 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0057t0077g0016 a0001c0064t0006g0106 a0001c0068t0025g0104 a0001c0088t0007g0141 a0001c0089t0006g0159 a0005c0092t0012g0163	32	196	0.1633	-19	c.348 others(38): Show c.348+30997_348+31015delAAAAAAAAAAAAAAAAAAA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80896377	ACGCGGCC others(12): Show ACGCGGCCTCGCTGACACCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18963.hp1 NA18963.hp2 NA18980.hp1 NA18980.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(58): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0033 a0001c0034 a0001c0035 a0001c0038 a0001c0042 a0001c0043 a0001c0048 a0001c0049 a0001c0050 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0064 a0001c0067 a0001c0068 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0075 a0001c0078 a0001c0079 a0001c0080 a0001c0081 a0001c0084 a0001c0085 a0001c0087 a0001c0089 a0001c0090 a0001c0091 a0001c0093 a0001c0095 a0001c0096 a0001c0097 a0003c0069 a0005c0092	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(103): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0019 a0001c0001t0092 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0017 a0001c0002t0039 a0001c0002t0040 a0001c0004t0001 a0001c0004t0014 a0001c0004t0023 a0001c0004t0033 a0001c0005t0075 a0001c0006t0013 a0001c0006t0022 a0001c0006t0063 a0001c0006t0076 a0001c0006t0082 a0001c0006t0087 a0001c0008t0027 a0001c0009t0001 a0001c0009t0012 a0001c0009t0028 a0001c0009t0078 a0001c0010t0009 a0001c0010t0032 a0001c0010t0056 a0001c0010t0071 a0001c0010t0094 a0001c0013t0013 a0001c0013t0021 a0001c0013t0089 a0001c0014t0002 a0001c0014t0034 a0001c0016t0029 a0001c0016t0031 a0001c0017t0005 a0001c0017t0015 a0001c0018t0009 a0001c0018t0016 a0001c0018t0017 a0001c0019t0003 a0001c0019t0005 a0001c0019t0042 a0001c0020t0048 a0001c0020t0064 a0001c0020t0093 a0001c0021t0018 a0001c0021t0065 a0001c0021t0079 a0001c0022t0001 a0001c0022t0022 a0001c0024t0002 a0001c0024t0003 a0001c0024t0037 a0001c0025t0051 a0001c0025t0052 a0001c0026t0010 a0001c0026t0043 a0001c0027t0016 a0001c0027t0096 a0001c0028t0006 a0001c0029t0085 a0001c0030t0003 a0001c0033t0023 a0001c0033t0098 a0001c0034t0004 a0001c0035t0010 a0001c0038t0007 a0001c0042t0055 a0001c0043t0008 a0001c0048t0073 a0001c0049t0011 a0001c0050t0007 a0001c0054t0034 a0001c0055t0049 a0001c0056t0001 a0001c0057t0077 a0001c0064t0006 a0001c0067t0068 a0001c0068t0025 a0001c0070t0020 a0001c0071t0088 a0001c0072t0006 a0001c0073t0002 a0001c0075t0012 a0001c0078t0041 a0001c0079t0050 a0001c0080t0011 a0001c0081t0002 a0001c0084t0059 a0001c0085t0003 a0001c0087t0002 a0001c0089t0006 a0001c0090t0001 a0001c0091t0016 a0001c0093t0070 a0001c0095t0003 a0001c0096t0072 a0001c0097t0001 a0003c0069t0044 a0005c0092t0012	a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 others(112): Show a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0015g0085 a0001c0001t0019g0050 a0001c0001t0019g0057 a0001c0001t0092g0029 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0008g0131 a0001c0002t0010g0064 a0001c0002t0015g0086 a0001c0002t0017g0118 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0004t0001g0152 a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0004t0033g0023 a0001c0005t0075g0009 a0001c0006t0013g0068 a0001c0006t0022g0090 a0001c0006t0063g0160 a0001c0006t0076g0192 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0008t0027g0143 a0001c0009t0001g0125 a0001c0009t0012g0103 a0001c0009t0028g0113 a0001c0009t0078g0021 a0001c0010t0009g0058 a0001c0010t0032g0059 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0010t0094g0054 a0001c0013t0013g0062 a0001c0013t0013g0065 a0001c0013t0021g0093 a0001c0013t0089g0047 a0001c0014t0002g0055 a0001c0014t0034g0072 a0001c0016t0029g0193 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0017t0005g0031 a0001c0017t0015g0082 a0001c0018t0009g0066 a0001c0018t0016g0120 a0001c0018t0017g0140 a0001c0019t0003g0135 a0001c0019t0005g0037 a0001c0019t0042g0089 a0001c0020t0048g0094 a0001c0020t0064g0190 a0001c0020t0093g0034 a0001c0021t0018g0014 a0001c0021t0065g0112 a0001c0021t0079g0005 a0001c0022t0001g0132 a0001c0022t0001g0170 a0001c0022t0022g0095 a0001c0024t0002g0048 a0001c0024t0003g0129 a0001c0024t0037g0092 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0026t0010g0045 a0001c0026t0043g0096 a0001c0027t0016g0185 a0001c0027t0096g0060 a0001c0028t0006g0124 a0001c0029t0085g0012 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0033t0023g0075 a0001c0033t0098g0026 a0001c0034t0004g0133 a0001c0035t0010g0063 a0001c0038t0007g0178 a0001c0042t0055g0179 a0001c0043t0008g0176 a0001c0048t0073g0144 a0001c0049t0011g0078 a0001c0050t0007g0148 a0001c0054t0034g0056 a0001c0055t0049g0083 a0001c0056t0001g0107 a0001c0057t0077g0016 a0001c0064t0006g0106 a0001c0067t0068g0110 a0001c0068t0025g0104 a0001c0070t0020g0003 a0001c0071t0088g0035 a0001c0072t0006g0108 a0001c0073t0002g0070 a0001c0075t0012g0127 a0001c0078t0041g0100 a0001c0079t0050g0097 a0001c0080t0011g0077 a0001c0081t0002g0022 a0001c0084t0059g0165 a0001c0085t0003g0162 a0001c0087t0002g0051 a0001c0089t0006g0159 a0001c0090t0001g0161 a0001c0091t0016g0166 a0001c0093t0070g0155 a0001c0095t0003g0137 a0001c0096t0072g0171 a0001c0097t0001g0157 a0003c0069t0044g0099 a0005c0092t0012g0163	115	196	0.5867	-19	c.240 others(38): Show c.2401+2514_2401+2532delGCGGCCTCGCTGACACCCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	20/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD3_chr3_9832849_9849008	9848119	AGGGGACA others(12): Show AGGGGACATTCCATTGCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	-19	c.-41 others(30): Show c.-4148_-4130delCGGGCAATGGAATGTCCCC	RPUSD3	ENSG00000156990.14	transcript	ENST00000383820.10	protein_coding		4112		chr3	TogoVar
RRAGD_chr6_89359616_89417273	89389104	AGGTCTGT others(12): Show AGGTCTGTGGCCCGGGGTTT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18967.hp1 NA18945.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0232 a0001c0001t0001g0214 a0001c0001t0001g0232	2	372	0.0054	-19	c.149 others(36): Show c.149-1533_149-1515delAAACCCCGGGCCACAGACC	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	1/6			chr6	TogoVar
RRAS_chr19_49630292_49645143	49636959	ACCAGGCT others(12): Show ACCAGGCTCCCCGCAGTCAC	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	414	0.0024	-19	c.242 others(32): Show c.242-52_242-34delGTGACTGCGGGGAGCCTGG	RRAS	ENSG00000126458.4	transcript	ENST00000246792.4	protein_coding	2/5			chr19	TogoVar
RRP12_chr10_97351701_97406340	97383474	CGCCTGGG others(12): Show CGCCTGGGTGACAGCAGGCT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0345 a0001c0014t0001g0345	1	400	0.0025	-19	c.120 others(38): Show c.1209-1667_1209-1649delAGCCTGCTGTCACCCAGGC	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	10/33			chr10	TogoVar
RS1_chrX_18634688_18677108	18636363	ATTATTAT others(12): Show ATTATTATTATTATTATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0145	1	308	0.0033	-19	c.56 others(30): Show c.5622_*5640delATAATAATAATAATAATAA	RS1	ENSG00000102104.9	transcript	ENST00000379984.4	protein_coding		3324		chrX	TogoVar
RSBN1L_chr7_77691459_77788022	77742179	AAATACAC others(12): Show AAATACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02486.hp2 HG02630.hp1 others(1): Show HG00639.hp1 HG02486.hp2 HG02630.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0122 a0001c0001t0013g0123 a0001c0001t0013g0124 others(1): Show a0001c0001t0013g0122 a0001c0001t0013g0123 a0001c0001t0013g0124 a0001c0001t0013g0125	4	336	0.0119	-19	c.703 others(36): Show c.703+5655_703+5673delATACACACACACACACACA	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSF1_chr11_77655009_77825722	77671139	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	352	0.0028	-19	c.375 others(36): Show c.3751+884_3751+902delATATATATATATATATATA	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RSF1_chr11_77655009_77825722	77798581	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02602.hp1 NA18962.hp2 others(2): Show HG01975.hp2 HG02602.hp1 NA18962.hp2 NA18977.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0057	a0001c0001t0001g0311 a0001c0001t0004g0135 a0001c0001t0005g0253 others(2): Show a0001c0001t0001g0311 a0001c0001t0004g0135 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0057g0278	5	352	0.0142	-19	c.187 others(38): Show c.187+21928_187+21946delTTTTTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	1/15			chr11	TogoVar
RSPH3_chr6_158967871_159005202	159002656	AGCAGAGT others(12): Show AGCAGAGTGAGCACAAGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	302	0.0033	-19	c.-31 others(30): Show c.-3125_-3107delCTCCTTGTGCTCACTCTGC	RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding		2455		chr6	TogoVar
RSPH4A_chr6_116611479_116637985	116625050	CCTTAAGG others(12): Show CCTTAAGGATAATCAAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(287): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 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.hp1 HG02895.hp2 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 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0011 a0001c0015 others(14): Show a0001c0001 a0001c0011 a0001c0015 a0003c0003 a0003c0008 a0004c0004 a0004c0016 a0004c0017 a0004c0018 a0005c0005 a0006c0007 a0007c0006 a0009c0012 a0010c0010 a0011c0013 a0012c0009 a0013c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(22): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0011t0004 a0001c0015t0009 a0003c0003t0002 a0003c0003t0006 a0003c0008t0002 a0004c0004t0001 a0004c0004t0003 a0004c0004t0005 a0004c0016t0001 a0004c0017t0003 a0004c0018t0005 a0005c0005t0001 a0005c0005t0007 a0006c0007t0001 a0007c0006t0002 a0009c0012t0001 a0010c0010t0003 a0011c0013t0001 a0012c0009t0002 a0013c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(127): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0004g0015 a0001c0001t0004g0035 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0010g0027 a0001c0001t0012g0088 a0001c0001t0013g0036 a0001c0011t0004g0035 a0001c0015t0009g0070 a0003c0003t0002g0002 a0003c0003t0002g0005 a0003c0003t0002g0011 a0003c0003t0002g0018 a0003c0003t0002g0025 a0003c0003t0002g0028 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0044 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0106 a0003c0003t0002g0107 a0003c0003t0002g0108 a0003c0003t0006g0025 a0003c0008t0002g0056 a0004c0004t0001g0019 a0004c0004t0001g0045 a0004c0004t0001g0049 a0004c0004t0001g0110 a0004c0004t0003g0008 a0004c0004t0003g0020 a0004c0004t0003g0021 a0004c0004t0003g0029 a0004c0004t0003g0030 a0004c0004t0003g0031 a0004c0004t0003g0050 a0004c0004t0003g0109 a0004c0004t0003g0111 a0004c0004t0003g0112 a0004c0004t0003g0113 a0004c0004t0003g0114 a0004c0004t0003g0115 a0004c0004t0003g0116 a0004c0004t0003g0117 a0004c0004t0003g0118 a0004c0004t0003g0120 a0004c0004t0003g0121 a0004c0004t0003g0122 a0004c0004t0003g0123 a0004c0004t0003g0124 a0004c0004t0005g0129 a0004c0004t0005g0130 a0004c0016t0001g0019 a0004c0017t0003g0008 a0004c0018t0005g0019 a0005c0005t0001g0022 a0005c0005t0001g0023 a0005c0005t0001g0047 a0005c0005t0001g0127 a0005c0005t0001g0128 a0005c0005t0007g0022 a0006c0007t0001g0013 a0006c0007t0001g0041 a0006c0007t0001g0090 a0007c0006t0002g0024 a0009c0012t0001g0006 a0010c0010t0003g0119 a0011c0013t0001g0019 a0012c0009t0002g0005 a0013c0014t0001g0006	290	398	0.7286	-19	c.921 others(36): Show c.921+2070_921+2088delTAAGGATAATCAAGTGGCT	RSPH4A	ENSG00000111834.13	transcript	ENST00000229554.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
RSPO2_chr8_107894316_108088620	108003301	ATATATAT others(12): Show ATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	240	0.0042	-19	c.95- others(36): Show c.95-14076_95-14058delAAAAAAAAATATATATATA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSPO2_chr8_107894316_108088620	108029054	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03130.hp1 HG03516.hp1 HG01891.hp2 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0228 a0001c0001t0009g0229 a0001c0001t0009g0231 a0001c0001t0009g0228 a0001c0001t0009g0229 a0001c0001t0009g0231	3	240	0.0125	-19	c.95- others(36): Show c.95-39829_95-39811delAAAAAAAAAAAAAAAAAAA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSRC1_chr3_158105089_158550730	158247459	TTTTCAGG others(12): Show TTTTCAGGGTTTTGCACTGA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0049 a0001c0001t0019g0049	1	276	0.0036	-19	c.494 others(38): Show c.494+44237_494+44255delCAGGGTTTTGCACTGATTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158399123	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG02129.hp1 others(4): Show HG00408.hp1 HG00558.hp2 HG02129.hp1 HG02683.hp1 NA18946.hp2 NA19086.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0031 a0001c0001t0001 a0001c0001t0016 a0001c0001t0031	a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0097 others(4): Show a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0016g0098 a0001c0001t0031g0069	7	276	0.0254	-19	c.583 others(38): Show c.583+44246_583+44264delTTTTTTTTTTTTTTTTTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158462740	AATTTCTT others(12): Show AATTTCTTAAGTAACTATAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp1 others(47): Show HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01517.hp1 HG01978.hp2 HG02132.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18952.hp1 NA18961.hp1 NA18962.hp1 NA18968.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19011.hp2 NA19057.hp2 NA19072.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19086.hp1 NA19087.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(10): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0002c0002t0017 a0005c0005t0005	a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0118 others(47): Show a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0146 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0158 a0001c0001t0003g0164 a0001c0001t0005g0045 a0001c0001t0005g0124 a0001c0001t0005g0128 a0001c0001t0005g0131 a0001c0001t0005g0136 a0001c0001t0005g0138 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0008g0112 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0121 a0001c0001t0008g0130 a0001c0001t0008g0133 a0001c0001t0008g0157 a0001c0001t0013g0047 a0001c0001t0014g0015 a0001c0001t0014g0016 a0001c0001t0014g0017 a0001c0001t0014g0018 a0001c0001t0017g0113 a0001c0001t0017g0150 a0001c0001t0018g0139 a0001c0001t0018g0141 a0001c0001t0018g0143 a0001c0001t0018g0145 a0001c0001t0027g0048 a0001c0001t0029g0152 a0001c0001t0030g0155 a0001c0001t0032g0122 a0002c0002t0017g0114 a0002c0002t0017g0115 a0005c0005t0005g0120	50	276	0.1812	-19	c.652 others(36): Show c.652+1740_652+1758delTTCTTAAGTAACTATAGAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTCA_chr1_100261216_100297769	100283931	AAAAGAAA others(12): Show AAAAGAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG03942.hp2 others(8): Show HG02109.hp1 HG02717.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 NA18953.hp2 NA18969.hp1 NA18999.hp2 NA19003.hp2 NA19057.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0158 a0001c0001t0004g0161 others(7): Show a0001c0001t0004g0034 a0001c0001t0004g0158 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0178 a0001c0001t0004g0179	11	296	0.0372	-19	c.800 others(36): Show c.800-1293_800-1275delGAAAAAAAAAAAAAAGAAA	RTCA	ENSG00000137996.13	transcript	ENST00000370128.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RTCB_chr22_32382582_32417247	32416019	ATTGGGCA others(12): Show ATTGGGCACAAGCACAGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 NA18952.hp2 NA18960.hp2 others(3): Show HG01943.hp2 NA18952.hp2 NA18960.hp2 NA18994.hp2 NA19011.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0002t0001g0001 a0001c0002t0001g0015	6	438	0.0137	-19	c.-38 others(30): Show c.-3882_-3864delCCTCTGTGCTTGTGCCCAA	RTCB	ENSG00000100220.12	transcript	ENST00000216038.6	protein_coding		3773		chr22	TogoVar
RTKN_chr2_74420835_74446937	74443647	TATAGATA others(12): Show TATAGATATAGATATAGATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	382	0.0026	-19	c.-18 others(30): Show c.-1850_-1832delTATCTATATCTATATCTAT	RTKN	ENSG00000114993.17	transcript	ENST00000272430.10	protein_coding		1711		chr2	TogoVar
RTL4_chrX_112078016_112462514	112357534	ACAAAACA others(12): Show ACAAAACAAAAAGATCAAAC	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	134	0.0075	-19	c.-28 others(40): Show c.-285+51033_-285+51051delCCAAAACAAAAAGATCAAA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112419337	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18906.hp1 HG02258.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0041 a0003c0004t0001g0116 a0003c0004t0001g0041 a0003c0004t0001g0116	2	134	0.0149	-19	c.-28 others(40): Show c.-284-11754_-284-11736delTTTTTTTTTTTTTTTTTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59819413	CACCCCCC others(12): Show CACCCCCCCCCCACCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02074.hp1 HG02080.hp2 others(8): Show HG00140.hp1 HG02074.hp1 HG02080.hp2 HG02145.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02895.hp2 HG03017.hp1 NA19011.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0074 a0001c0001t0001g0087 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0164	11	172	0.0640	-19	c.241 others(38): Show c.241+50958_241+50976delTGGGGGGTGGGGGGGGGGT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59819414	ACCCCCCC others(12): Show ACCCCCCCCCCACCCCCCAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	172	0.0058	-19	c.241 others(38): Show c.241+50957_241+50975delGTGGGGGGTGGGGGGGGGG	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTP5_chr2_241864729_241878823	241877617	CGGCCACC others(12): Show CGGCCACCGCTCAGCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG01109.hp2 others(52): Show HG00099.hp1 HG00423.hp2 HG01109.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02300.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18954.hp1 NA18971.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp1 NA20300.hp1 NA21309.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0013 a0015 a0019 a0022	a0001c0028 a0004c0004 a0005c0005 others(5): Show a0001c0028 a0004c0004 a0005c0005 a0006c0006 a0013c0013 a0015c0031 a0019c0030 a0022c0029	a0001c0028t0005 a0004c0004t0001 a0004c0004t0010 others(7): Show a0001c0028t0005 a0004c0004t0001 a0004c0004t0010 a0005c0005t0005 a0005c0005t0022 a0006c0006t0007 a0013c0013t0001 a0015c0031t0001 a0019c0030t0001 a0022c0029t0005	a0001c0028t0005g0005 a0004c0004t0001g0003 a0004c0004t0001g0016 others(11): Show a0001c0028t0005g0005 a0004c0004t0001g0003 a0004c0004t0001g0016 a0004c0004t0001g0024 a0004c0004t0001g0028 a0004c0004t0001g0031 a0004c0004t0010g0003 a0005c0005t0005g0005 a0005c0005t0022g0005 a0006c0006t0007g0009 a0013c0013t0001g0003 a0015c0031t0001g0003 a0019c0030t0001g0003 a0022c0029t0005g0022	55	365	0.1507	-19	c.43 others(30): Show c.4344_*4362delGGCCACCGCTCAGCTCCCT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3795		chr2	TogoVar
RUVBL1_chr3_128075810_128128812	128122058	TCTTAGGC others(12): Show TCTTAGGCATAGAGCATGCA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02559.hp2 others(7): Show HG01109.hp1 HG01891.hp2 HG02559.hp2 HG02572.hp1 HG03195.hp1 HG03579.hp2 HG06807.hp1 NA19030.hp1 NA19043.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(6): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0086 a0001c0002t0001g0023	10	360	0.0278	-19	c.141 others(36): Show c.141+1507_141+1525delTGCATGCTCTATGCCTAAG	RUVBL1	ENSG00000175792.12	transcript	ENST00000322623.10	protein_coding	1/10			chr3	TogoVar
RXRG_chr1_165395922_165450126	165440646	AGAGCCAC others(12): Show AGAGCCACCAAAGCCCATGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(242): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0011 a0001c0004t0001 a0001c0006t0001 a0001c0006t0003 a0001c0007t0001 a0001c0010t0001 a0001c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0021 others(184): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0279 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0003g0026 a0001c0001t0003g0066 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0120 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0133 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0155 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0019 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0128 a0001c0002t0002g0131 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0142 a0001c0002t0002g0146 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0156 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0171 a0001c0002t0002g0176 a0001c0002t0003g0020 a0001c0002t0003g0104 a0001c0002t0003g0127 a0001c0002t0003g0129 a0001c0002t0003g0145 a0001c0002t0005g0114 a0001c0002t0005g0121 a0001c0002t0005g0141 a0001c0002t0005g0154 a0001c0002t0006g0130 a0001c0002t0007g0311 a0001c0002t0007g0313 a0001c0002t0007g0314 a0001c0002t0007g0315 a0001c0002t0012g0126 a0001c0002t0013g0316 a0001c0002t0014g0312 a0001c0003t0001g0001 a0001c0003t0001g0024 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0077 a0001c0003t0001g0088 a0001c0003t0001g0090 a0001c0003t0001g0100 a0001c0003t0001g0177 a0001c0003t0001g0181 a0001c0003t0001g0183 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0193 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0002g0074 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0187 a0001c0003t0002g0194 a0001c0003t0002g0207 a0001c0003t0002g0229 a0001c0003t0004g0157 a0001c0003t0005g0192 a0001c0003t0005g0202 a0001c0003t0005g0205 a0001c0003t0011g0164 a0001c0004t0001g0199 a0001c0006t0001g0101 a0001c0006t0001g0122 a0001c0006t0001g0140 a0001c0006t0003g0158 a0001c0006t0003g0159 a0001c0007t0001g0132 a0001c0007t0001g0160 a0001c0010t0001g0091 a0001c0011t0001g0116	245	412	0.5947	-19	c.49+ others(34): Show c.49+4180_49+4198delGCATGGGCTTTGGTGGCTC	RXRG	ENSG00000143171.13	transcript	ENST00000359842.10	protein_coding	1/9			chr1	TogoVar
RYR1_chr19_38428691_38592564	38551025	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01981.hp1 HG02257.hp2 others(7): Show HG01891.hp1 HG01981.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG03098.hp1 HG03453.hp2 HG03516.hp1 NA19030.hp2	a0001 a0006 a0011 others(3): Show a0001 a0006 a0011 a0018 a0023 a0039	a0001c0025 a0001c0056 a0001c0071 others(5): Show a0001c0025 a0001c0056 a0001c0071 a0006c0009 a0011c0092 a0018c0085 a0023c0047 a0039c0086	a0001c0025t0001 a0001c0056t0001 a0001c0071t0001 others(5): Show a0001c0025t0001 a0001c0056t0001 a0001c0071t0001 a0006c0009t0002 a0011c0092t0001 a0018c0085t0001 a0023c0047t0002 a0039c0086t0001	a0001c0025t0001g0059 a0001c0056t0001g0135 a0001c0071t0001g0002 others(7): Show a0001c0025t0001g0059 a0001c0056t0001g0135 a0001c0071t0001g0002 a0006c0009t0002g0203 a0006c0009t0002g0212 a0006c0009t0002g0213 a0011c0092t0001g0023 a0018c0085t0001g0142 a0023c0047t0002g0202 a0039c0086t0001g0143	10	218	0.0459	-19	c.122 others(40): Show c.12282+2626_12282+2644delTTTTTTTTTTTTTTTTTTT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590389	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG03453.hp1 HG02897.hp2 HG03453.hp1	a0001 a0008 a0001 a0008	a0001c0058 a0008c0036 a0001c0058 a0008c0036	a0001c0058t0001 a0008c0036t0002 a0001c0058t0001 a0008c0036t0002	a0001c0058t0001g0001 a0008c0036t0002g0215 a0001c0058t0001g0001 a0008c0036t0002g0215	2	218	0.0092	-19	c.29 others(30): Show c.2970_*2988delAAAAAATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2826		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590395	ATATATAT others(12): Show ATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0203 a0006c0009t0002g0203	1	218	0.0046	-19	c.29 others(30): Show c.2976_*2994delTATATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2832		chr19	TogoVar
RYR2_chr1_237037184_237838988	237350589	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0061 a0001c0005t0011g0061	1	100	0.0100	-19	c.274 others(36): Show c.274-5374_274-5356delAAAAAAAAAAAAATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237550001	AGTCATTT others(12): Show AGTCATTTTAGTGCCCCTGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0035 a0001c0014t0035	a0001c0014t0035g0031 a0001c0014t0035g0031	1	100	0.0100	-19	c.306 others(36): Show c.3067-542_3067-524delGTCATTTTAGTGCCCCTGG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	26/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237594886	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02559.hp2 HG01361.hp1 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0028 a0001c0003 a0001c0028	a0001c0003t0005 a0001c0028t0007 a0001c0003t0005 a0001c0028t0007	a0001c0003t0005g0018 a0001c0028t0007g0062 a0001c0003t0005g0018 a0001c0028t0007g0062	2	100	0.0200	-19	c.443 others(36): Show c.4437-585_4437-567delTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237714991	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG02280.hp2 others(7): Show HG01243.hp1 HG01496.hp1 HG02280.hp2 HG02486.hp1 HG03098.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0014 a0001c0030 a0001c0049 a0002c0024	a0001c0001t0007 a0001c0001t0041 a0001c0002t0003 others(7): Show a0001c0001t0007 a0001c0001t0041 a0001c0002t0003 a0001c0003t0003 a0001c0010t0004 a0001c0010t0029 a0001c0014t0035 a0001c0030t0005 a0001c0049t0009 a0002c0024t0005	a0001c0001t0007g0082 a0001c0001t0041g0001 a0001c0002t0003g0008 others(7): Show a0001c0001t0007g0082 a0001c0001t0041g0001 a0001c0002t0003g0008 a0001c0003t0003g0046 a0001c0010t0004g0097 a0001c0010t0029g0051 a0001c0014t0035g0031 a0001c0030t0005g0053 a0001c0049t0009g0044 a0002c0024t0005g0013	10	100	0.1000	-19	c.103 others(40): Show c.10324-2193_10324-2175delAAAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	71/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237827936	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0040 a0002c0025t0040	a0002c0025t0040g0003 a0002c0025t0040g0003	1	100	0.0100	-19	c.145 others(38): Show c.14591-433_14591-415delAAAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	101/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33669861	TGGGTGTG others(12): Show TGGGTGTGTGGGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0084 a0001c0084	a0001c0084t0003 a0001c0084t0003	a0001c0084t0003g0054 a0001c0084t0003g0054	1	154	0.0065	-19	c.572 others(36): Show c.5722+407_5722+425delGGTGTGTGGGTGTGTGTGG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	37/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A7A_chr1_153411520_153428222	153418252	GGTTGGAC others(12): Show GGTTGGACCCTGGCATGGCT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03239.hp2 HG01167.hp1 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	2	422	0.0047	-19	c.141 others(32): Show c.141+31_141+49delTTGGACCCTGGCATGGCTG	S100A7A	ENSG00000184330.12	transcript	ENST00000368729.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
S1PR4_chr19_3173769_3185332	3174056	CCTCATGG others(12): Show CCTCATGGGACACCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03540.hp1 HG01515.hp2 HG01517.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	418	0.0072	-19	c.-47 others(30): Show c.-4736_-4718delCTCATGGGACACCTGTGTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4712		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3174460	TCTCATGG others(12): Show TCTCATGGGACGCCTGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03540.hp1 others(1): Show HG01515.hp2 HG01517.hp2 HG03540.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	418	0.0096	-19	c.-43 others(30): Show c.-4332_-4314delCTCATGGGACGCCTGTGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4308		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3174652	TCTCATGG others(12): Show TCTCATGGGACGCCTGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-19	c.-41 others(30): Show c.-4140_-4122delCTCATGGGACGCCTGTGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4116		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3174765	CCCTCATG others(12): Show CCCTCATGGGACGCCTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-19	c.-40 others(30): Show c.-4027_-4009delCCTCATGGGACGCCTGTGT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4003		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3174766	CCTCATGG others(12): Show CCTCATGGGACGCCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-19	c.-40 others(30): Show c.-4026_-4008delCTCATGGGACGCCTGTGTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4002		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3174785	TCTCATGG others(12): Show TCTCATGGGACGCCTGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-19	c.-40 others(30): Show c.-4007_-3989delCTCATGGGACGCCTGTGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3983		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175209	CCTCATGG others(12): Show CCTCATGGGACACCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-19	c.-35 others(30): Show c.-3583_-3565delCTCATGGGACACCTGTGTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3559		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175286	CCTCATGG others(12): Show CCTCATGGGACACCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-19	c.-35 others(30): Show c.-3506_-3488delCTCATGGGACACCTGTGTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3482		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175400	CCCCTCAT others(12): Show CCCCTCATGGGACACCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-19	c.-33 others(30): Show c.-3392_-3374delCCCTCATGGGACACCTGTG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3368		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175701	GCCTGCAT others(12): Show GCCTGCATTCTCATGGGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00673.hp2 others(35): Show HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01975.hp2 HG01993.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp2 NA18612.hp1 NA18944.hp2 NA19074.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0019 a0013c0024	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0019t0001 a0013c0024t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 others(2): Show a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0019t0001g0000 a0013c0024t0001g0000	38	418	0.0909	-19	c.-30 others(30): Show c.-3091_-3073delCCTGCATTCTCATGGGACA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3067		chr19	TogoVar
SAA1_chr11_18261264_18274967	18268831	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(160): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0008 a0009	a0001c0002 a0001c0004 a0001c0009 others(6): Show a0001c0002 a0001c0004 a0001c0009 a0001c0019 a0002c0001 a0004c0006 a0006c0008 a0008c0011 a0009c0016	a0001c0002t0001 a0001c0004t0001 a0001c0004t0005 others(7): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0005 a0001c0009t0001 a0001c0019t0001 a0002c0001t0004 a0004c0006t0001 a0006c0008t0001 a0008c0011t0001 a0009c0016t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0011 others(27): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0011 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0059 a0001c0004t0001g0010 a0001c0004t0001g0026 a0001c0004t0001g0038 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0068 a0001c0004t0005g0026 a0001c0009t0001g0004 a0001c0019t0001g0069 a0002c0001t0004g0044 a0004c0006t0001g0008 a0004c0006t0001g0035 a0004c0006t0001g0040 a0004c0006t0001g0065 a0006c0008t0001g0004 a0006c0008t0001g0074 a0008c0011t0001g0001 a0009c0016t0001g0001	163	442	0.3688	-19	c.92- others(32): Show c.92-350_92-332delAAAAAAAAAAAAAAAAAAA	SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
SAA2_chr11_18240240_18253668	18246210	TATCCTAG others(12): Show TATCCTAGTTGGCTTCTTCA	T T	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0045 a0009c0008t0001g0045	1	474	0.0021	-19	c.92- others(32): Show c.92-181_92-163delTGAAGAAGCCAACTAGGAT	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding	2/3			chr11	TogoVar

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