Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBFOX1_chr16_6014024_7718340	6487688	AAAAAAAA others(39): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	68	0.0147	-46	c.-63 others(67): Show c.-63-166913_-63-166868delAAAAAAAAAAAATATATATATATA TATATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79582095	CGTGCCTG others(39): Show CGTGCCTGCCCGTGTATGTGCCTGTGCGTGCCTGTGTATGCATGCAT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	154	0.0065	-46	c.-32 others(67): Show c.-320+28685_-320+28730delATGCATGCATACACAGGCACGCAC AGGCACATACACGGGCAGGCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RCN3_chr19_49523003_49548633	49544591	TCAGAGAG others(39): Show TCAGAGAGAGAGGGACAGAGACCCAGAGAGAGAGGGGAACAGAGACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	-46	c.13 others(57): Show c.1379_*1424delCAGAGAGAGAGGGACAGAGACCCAGAGAGAGAGG GGAACAGAGACC	RCN3	ENSG00000142552.8	transcript	ENST00000270645.8	protein_coding		959		chr19	TogoVar
RCVRN_chr17_9891320_9910271	9908028	CAGAGGCC others(39): Show CAGAGGCCTCGGCCCCTTGCTCTGAGCCACTAGTAGGGGGCGACTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	480	0.0021	-46	c.-28 others(57): Show c.-2894_-2849delCCAGTCGCCCCCTACTAGTGGCTCAGAGCAAGGG GCCGAGGCCTCT	RCVRN	ENSG00000109047.8	transcript	ENST00000226193.6	protein_coding		2758		chr17	TogoVar
REG3G_chr2_79020702_79033501	79031050	CTCAGATC others(39): Show CTCAGATCTATTTAAAGAGTGTTTAAAAAAGTCATAAAAAAGTTAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	464	0.0022	-46	c.27 others(57): Show c.2775_*2820delTCAGATCTATTTAAAGAGTGTTTAAAAAAGTCAT AAAAAAGTTAAA	REG3G	ENSG00000143954.13	transcript	ENST00000272324.10	protein_coding		2550		chr2	TogoVar
RELL1_chr4_37605634_37691376	37669188	GGGGGTCA others(39): Show GGGGGTCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02572.hp1 HG02970.hp1 others(2): Show HG01167.hp1 HG02572.hp1 HG02970.hp1 HG03130.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020	a0001c0001t0001g0033 a0001c0001t0008g0016 a0001c0001t0012g0034 others(2): Show a0001c0001t0001g0033 a0001c0001t0008g0016 a0001c0001t0012g0034 a0001c0001t0018g0025 a0001c0001t0020g0019	5	324	0.0154	-46	c.88+ others(63): Show c.88+16966_88+17011delACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCAGGGGGCTGACCCC	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
REM1_chr20_31470288_31489895	31471318	CCCCCCAC others(39): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01361.hp1 HG01891.hp1 others(4): Show HG01167.hp1 HG01361.hp1 HG01891.hp1 HG02486.hp2 HG02970.hp1 HG02970.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0090 a0002c0002t0001g0092 others(2): Show a0002c0002t0001g0021 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0101	7	344	0.0204	-46	c.-42 others(57): Show c.-4267_-4222delCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGCTGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		3969		chr20	TogoVar
RERE_chr1_8347404_8822640	8646055	ACTCAAAT others(39): Show ACTCAAATGTGAAACACCTGAACCTGAGTCTACCTAACAACAAAGCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0013 a0015	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0016 a0001c0019 a0001c0023 a0001c0027 a0002c0006 a0002c0032 a0002c0033 a0003c0008 a0004c0017 a0004c0022 a0005c0012 a0006c0013 a0007c0025 a0008c0020 a0009c0031 a0011c0024 a0013c0021 a0015c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(63): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0013 a0001c0002t0018 a0001c0002t0028 a0001c0002t0032 a0001c0003t0004 a0001c0003t0008 a0001c0003t0011 a0001c0003t0012 a0001c0003t0015 a0001c0003t0017 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0010 a0001c0004t0014 a0001c0004t0022 a0001c0004t0025 a0001c0004t0027 a0001c0004t0040 a0001c0005t0009 a0001c0005t0019 a0001c0005t0026 a0001c0005t0034 a0001c0007t0001 a0001c0007t0003 a0001c0007t0004 a0001c0009t0004 a0001c0009t0041 a0001c0010t0007 a0001c0010t0013 a0001c0011t0007 a0001c0015t0001 a0001c0016t0020 a0001c0019t0001 a0001c0023t0014 a0001c0027t0008 a0002c0006t0003 a0002c0006t0024 a0002c0032t0008 a0002c0033t0003 a0003c0008t0001 a0004c0017t0004 a0004c0022t0003 a0005c0012t0008 a0006c0013t0021 a0006c0013t0029 a0007c0025t0003 a0008c0020t0001 a0009c0031t0007 a0011c0024t0039 a0013c0021t0001 a0015c0018t0003	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(158): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0141 a0001c0001t0006g0184 a0001c0001t0016g0054 a0001c0001t0023g0113 a0001c0001t0030g0143 a0001c0001t0031g0144 a0001c0001t0036g0194 a0001c0001t0037g0196 a0001c0001t0038g0195 a0001c0002t0002g0157 a0001c0002t0005g0110 a0001c0002t0005g0114 a0001c0002t0005g0116 a0001c0002t0005g0125 a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0002t0005g0136 a0001c0002t0006g0145 a0001c0002t0013g0053 a0001c0002t0018g0002 a0001c0002t0028g0133 a0001c0002t0032g0155 a0001c0003t0004g0007 a0001c0003t0004g0010 a0001c0003t0004g0011 a0001c0003t0004g0014 a0001c0003t0004g0017 a0001c0003t0004g0019 a0001c0003t0004g0021 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0068 a0001c0003t0004g0078 a0001c0003t0008g0085 a0001c0003t0008g0105 a0001c0003t0011g0096 a0001c0003t0011g0108 a0001c0003t0011g0112 a0001c0003t0012g0018 a0001c0003t0012g0022 a0001c0003t0015g0147 a0001c0003t0017g0032 a0001c0004t0001g0003 a0001c0004t0001g0049 a0001c0004t0003g0092 a0001c0004t0003g0109 a0001c0004t0005g0079 a0001c0004t0005g0083 a0001c0004t0005g0123 a0001c0004t0006g0146 a0001c0004t0010g0107 a0001c0004t0010g0120 a0001c0004t0010g0142 a0001c0004t0014g0126 a0001c0004t0022g0121 a0001c0004t0025g0080 a0001c0004t0027g0106 a0001c0004t0040g0199 a0001c0005t0009g0200 a0001c0005t0009g0201 a0001c0005t0009g0202 a0001c0005t0009g0203 a0001c0005t0009g0204 a0001c0005t0019g0030 a0001c0005t0026g0127 a0001c0005t0034g0156 a0001c0007t0001g0008 a0001c0007t0003g0084 a0001c0007t0003g0099 a0001c0007t0004g0044 a0001c0007t0004g0047 a0001c0009t0004g0016 a0001c0009t0004g0020 a0001c0009t0041g0198 a0001c0010t0007g0026 a0001c0010t0007g0034 a0001c0010t0013g0024 a0001c0011t0007g0027 a0001c0011t0007g0028 a0001c0011t0007g0029 a0001c0015t0001g0009 a0001c0016t0020g0001 a0001c0019t0001g0005 a0001c0023t0014g0119 a0001c0027t0008g0082 a0002c0006t0003g0089 a0002c0006t0003g0090 a0002c0006t0003g0091 a0002c0006t0003g0094 a0002c0006t0003g0097 a0002c0006t0003g0139 a0002c0006t0024g0081 a0002c0032t0008g0140 a0002c0033t0003g0086 a0003c0008t0001g0006 a0003c0008t0001g0031 a0003c0008t0001g0071 a0003c0008t0001g0072 a0004c0017t0004g0012 a0004c0022t0003g0098 a0005c0012t0008g0137 a0005c0012t0008g0138 a0006c0013t0021g0023 a0006c0013t0029g0111 a0007c0025t0003g0135 a0008c0020t0001g0062 a0009c0031t0007g0025 a0011c0024t0039g0197 a0013c0021t0001g0069 a0015c0018t0003g0101	161	204	0.7892	-46	c.325 others(63): Show c.325+9872_325+9917delAGCTTTGTTGTTAGGTAGACTCAGGTTC AGGTGTTTCACATTTGAG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	2/22			chr1	TogoVar
RFTN1_chr3_16310845_16518699	16403928	TTATATTT others(39): Show TTATATTTATATATAATATATAATATATATTTTATATATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	268	0.0037	-46	c.441 others(63): Show c.441+5401_441+5446delTATAATATATATATAAAATATATATTAT ATATTATATATAAATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RGL3_chr19_11389060_11424314	11424228	TGGCTGTG others(39): Show TGGCTGTGGCTCACGCCTTTAATTCCAGTACTTTAGGAGGCTGAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0076 a0006c0009t0002g0076	1	402	0.0025	-46	c.-49 others(57): Show c.-4996_-4951delGCCTCAGCCTCCTAAAGTACTGGAATTAAAGGCG TGAGCCACAGCC	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding		4915		chr19	TogoVar
RGPD2_chr2_87750960_87830796	87825373	GGCCGCCG others(39): Show GGCCGCCGCCGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCCGAGGCC	G G	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0061 a0001c0006t0001g0061	1	176	0.0057	-46	c.72+ others(59): Show c.72+239_72+284delGGCCTCGGCCTCGGCCTGGCCGGGCGGCGGCG GCGGCGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS13_chr1_192631147_192665311	192641208	GAAAGAAA others(39): Show GAAAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19065.hp2 NA18999.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0202 a0001c0001t0003g0190 a0001c0001t0003g0202	2	420	0.0048	-46	c.-5+ others(61): Show c.-5+3019_-5+3064delGAGAAAGAAAGAAAGAAAGAAAGAAAAGAA AGAAAAGAAAGAAAGA	RGS13	ENSG00000127074.15	transcript	ENST00000391995.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS17_chr6_152999459_153136282	153053922	TATGTATA others(39): Show TATGTATATATATGTATATATAATATATATACATATATATTATATAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0167 a0001c0001t0019g0167	1	338	0.0030	-46	c.-25 others(63): Show c.-25-9925_-25-9880delGTATATAATATATATGTATATATATTAT ATATACATATATATACAT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS22_chr8_99955936_100111049	100051621	ATATAAAT others(39): Show ATATAAATATATATTTATATATGTTTATACATATATAAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01261.hp2 HG02300.hp2 others(11): Show HG01074.hp1 HG01261.hp2 HG02300.hp2 HG02683.hp1 HG02683.hp2 HG03098.hp1 HG03239.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 NA18960.hp1 NA19009.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0135 others(11): Show a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0293 a0001c0001t0001g0301	14	310	0.0452	-46	c.168 others(65): Show c.1689+1135_1689+1180delAATATATATTTATATATGTATAAACA TATATAAATATATATTTATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGS7_chr1_240770514_241362205	241310422	AGTGTATG others(39): Show AGTGTATGTGTGTCTGTGTGTGTGAGTGTGTGTGTGTGAGAGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp1 HG02809.hp1 others(2): Show HG00639.hp1 HG02055.hp1 HG02809.hp1 HG03540.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0066 a0001c0001t0001g0087 a0001c0001t0002g0073 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0087 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0106	5	112	0.0446	-46	c.78+ others(63): Show c.78+45231_78+45276delACACACTCTCACACACACACACTCACAC ACACAGACACACATACAC	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHAG_chr6_49600175_49641839	49636406	ACAAAAGG others(39): Show ACAAAAGGCATCAATTATTTTAATTTTCAGCTTCTTGTTCTGATATT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0216 a0006c0010t0002g0216	1	400	0.0025	-46	c.157 others(61): Show c.157+204_157+249delAATATCAGAACAAGAAGCTGAAAATTAAAA TAATTGATGCCTTTTG	RHAG	ENSG00000112077.18	transcript	ENST00000371175.10	protein_coding	1/9			chr6	TogoVar
RHBDF1_chr16_53059_77631	67987	CCGGCCCC others(39): Show CCGGCCCCAGGAACCTCCCCAGGACTGTCTCAGCCGGGGACCACAGT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	398	0.0025	-46	c.-24 others(63): Show c.-24-2994_-24-2949delACTGTGGTCCCCGGCTGAGACAGTCCTG GGGAGGTTCCTGGGGCCG	RHBDF1	ENSG00000007384.15	transcript	ENST00000262316.10	protein_coding	1/17			chr16	TogoVar
RHOC_chr1_112696131_112712127	112706454	CACACACA others(39): Show CACACACACACCACACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp2 HG03130.hp2 others(6): Show HG01175.hp2 HG01981.hp2 HG03130.hp2 HG03195.hp1 NA18960.hp1 NA18970.hp1 NA19057.hp1 NA19089.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0065 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067	9	428	0.0210	-46	c.-77 others(61): Show c.-77+578_-77+623delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGGTGTGTGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOC_chr1_112696131_112712127	112706456	CACACACA others(39): Show CACACACACCACACACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	428	0.0023	-46	c.-77 others(61): Show c.-77+576_-77+621delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGGTGTGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOQ_chr2_46537490_46589688	46546473	TGTGTATA others(39): Show TGTGTATATATATATATATATATATATATATATATATATGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG01109.hp2 others(28): Show HG00323.hp1 HG00597.hp1 HG01109.hp2 HG01884.hp2 HG02055.hp1 HG02071.hp1 HG02155.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp2 NA18953.hp1 NA18979.hp1 NA18982.hp1 NA18987.hp1 NA18999.hp1 NA19043.hp1 NA19054.hp2 NA19068.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0004t0018	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(27): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0103 a0001c0001t0004g0030 a0001c0001t0005g0080 a0001c0001t0005g0192 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0007g0006 a0001c0001t0007g0196 a0001c0001t0007g0198 a0001c0001t0007g0199 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0001t0007g0209 a0001c0001t0008g0104 a0001c0001t0010g0282 a0001c0001t0010g0283 a0001c0001t0010g0294 a0001c0001t0011g0009 a0001c0004t0018g0281	31	332	0.0934	-46	c.201 others(63): Show c.201+2662_201+2707delGTGTATATATATATATATATATATATAT ATATATATATGTATATAC	RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	2/4			chr2	TogoVar
RHOXF1_chrX_120104051_120120913	120112389	TATATGTA others(39): Show TATATGTATGATATATATACATATATGTATTATATATAATACACATA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02896.hp1 HG02897.hp1 others(3): Show HG01496.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0057 a0001c0001t0001g0058 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0065	6	320	0.0188	-46	c.444 others(61): Show c.444+434_444+479delTATGTGTATTATATATAATACATATATGTA TATATATCATACATAT	RHOXF1	ENSG00000101883.6	transcript	ENST00000217999.3	protein_coding	2/2			chrX	TogoVar
RMDN2_chr2_37920287_38022744	37963980	GGGCGGGG others(39): Show GGGCGGGGGCTGCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18939.hp2 NA19007.hp1 others(2): Show HG02074.hp2 NA18939.hp2 NA19007.hp1 NA19064.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0053 a0001c0001t0010g0054 a0001c0001t0010g0055 others(2): Show a0001c0001t0010g0053 a0001c0001t0010g0054 a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0010g0057	5	328	0.0152	-46	c.453 others(64): Show c.453-10026_453-9981delGGGCGGCTGGCCTGGCGGGGGCTGCCC CCCACCTCCCTCCCGGACG	RMDN2	ENSG00000115841.21	transcript	ENST00000354545.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF115_chr1_145733868_145829095	145764728	GGCCAGCT others(39): Show GGCCAGCTGCCCCATCCAGGAGGGAGGTGGGGGCCAGCCCCCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	272	0.0037	-46	c.428 others(63): Show c.428+6937_428+6982delTGGGCGGGGGCTGGCCCCCACCTCCCTC CTGGATGGGGCAGCTGGC	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	4/8			chr1	TogoVar
RNF126_chr19_642526_668214	650105	AGGCTGGG others(39): Show AGGCTGGGGATGGGGACAGGCACCCCCTCCTACTCACCAGGGACCCT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG01978.hp2 others(4): Show HG01243.hp1 HG01891.hp2 HG01978.hp2 HG02258.hp2 HG03225.hp1 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0065 a0001c0002t0001g0068 a0001c0002t0003g0066 others(4): Show a0001c0001t0001g0065 a0001c0002t0001g0068 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0069 a0001c0002t0003g0380 a0001c0002t0003g0406	7	434	0.0161	-46	c.506 others(60): Show c.506+83_506+128delAGGGTCCCTGGTGAGTAGGAGGGGGTGCCTG TCCCCATCCCCAGCC	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding	5/8			chr19	TogoVar
RNF126_chr19_642526_668214	667393	GCCCAGGT others(39): Show GCCCAGGTGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGACCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	434	0.0023	-46	c.-43 others(57): Show c.-4318_-4273delTTGGTCCGCCTGGGACGTGGTCCGCCTGGGACGT GGTCCACCTGGG	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4180		chr19	TogoVar
RNF13_chr3_149808215_149967139	149835857	CCCCAGTA others(39): Show CCCCAGTACTGGGATTGCTGGATTCCCAGTACTGGGATTGCTGGATT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp1 HG01243.hp1 others(10): Show HG00280.hp2 HG01106.hp1 HG01243.hp1 HG02145.hp1 HG02280.hp1 HG02698.hp2 HG02809.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp2 NA18999.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0239 a0001c0002t0003g0238 a0001c0002t0003g0254 others(10): Show a0001c0001t0001g0239 a0001c0002t0003g0238 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264	13	280	0.0464	-46	c.-16 others(65): Show c.-16-10131_-16-10086delTCCCAGTACTGGGATTGCTGGATTCC CAGTACTGGGATTGCTGGAT	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF212_chr4_1066478_1118564	1079028	AACATGGG others(39): Show AACATGGGACCAACATAGAGTCAACACAGGACCAACATGGGACCAAC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03491.hp1 HG03710.hp2 others(2): Show HG02040.hp1 HG03491.hp1 HG03710.hp2 HG04204.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0044 a0001c0001t0001g0105 a0001c0001t0005g0043 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0105 a0001c0001t0005g0043 a0001c0001t0005g0046 a0001c0001t0005g0047	5	406	0.0123	-46	c.510 others(61): Show c.510+569_510+614delGTTGGTCCCATGTTGGTCCTGTGTTGACTC TATGTTGGTCCCATGT	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	8/9			chr4	TogoVar
RNF213_chr17_80255852_80403794	80313445	GTGGTGGT others(39): Show GTGGTGGTGGTGGTAGAGGTGATGGTGGTGGAGGTGATGGTGATGGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02630.hp2 HG02965.hp1 HG00733.hp2 HG02630.hp2 HG02965.hp1	a0022 a0027 a0040 a0022 a0027 a0040	a0022c0113 a0027c0081 a0040c0094 a0022c0113 a0027c0081 a0040c0094	a0022c0113t0079 a0027c0081t0077 a0040c0094t0001 a0022c0113t0079 a0027c0081t0077 a0040c0094t0001	a0022c0113t0079g0276 a0027c0081t0077g0290 a0040c0094t0001g0101 a0022c0113t0079g0276 a0027c0081t0077g0290 a0040c0094t0001g0101	3	292	0.0103	-46	c.281 others(63): Show c.2811+292_2811+337delAGAGGTGATGGTGGTGGAGGTGATGGTG ATGGTTGGTGGTGGTGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF214_chr11_117227671_117291454	117251373	CGGGGGGC others(39): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCT	C C	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	360	0.0028	-46	c.959 others(63): Show c.959+4428_959+4473delGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCTGG	RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
RORA_chr15_60483284_61234302	60816069	ATAAACAG others(39): Show ATAAACAGTATATGTATACTGTAAACAGTATATGTATTTATATACTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0087 a0001c0001t0043g0087	1	118	0.0085	-46	c.167 others(67): Show c.167-137429_167-137384delCAGTATATAAATACATATACTGTT TACAGTATACATATACTGTTTA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RP2_chrX_46832043_46887358	46847733	TATACACA others(39): Show TATACACACATATGTGTGTGTGTATATACACACATGTGTGTGTGTAC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18957.hp2 NA19011.hp2 others(2): Show NA18945.hp1 NA18957.hp2 NA19011.hp2 NA19066.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0061 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0061	5	274	0.0183	-46	c.103 others(63): Show c.103-5732_103-5687delATGTGTGTGTGTATATACACACATGTGT GTGTGTACATACACACAT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPF2_chr6_110977038_111033263	111017392	CGGAGACG others(39): Show CGGAGACGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGATGGGGGG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	360	0.0028	-46	c.596 others(63): Show c.596+1538_596+1583delGAGACGCTCCTCACTTCCCAGACGGGGC GGCTGCCGGATGGGGGGG	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPS10_chr6_34412454_34431069	34421036	AGTTGAAT others(39): Show AGTTGAATCCTATTATTCCTTTGCAAAAATACTAACAAAAGCTCCAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	390	0.0026	-46	c.400 others(61): Show c.400+648_400+693delGTGGAGCTTTTGTTAGTATTTTTGCAAAGG AATAATAGGATTCAAC	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding	4/5			chr6	TogoVar
RPS6KA5_chr14_90842861_91065641	91044346	AGAAAGAA others(39): Show AGAAAGAAAGAAAGAAAGAGAAAGAAAGAAGGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG01123.hp1 others(26): Show HG00099.hp1 HG00597.hp2 HG01123.hp1 HG01258.hp1 HG01358.hp2 HG01934.hp2 HG02056.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG03239.hp1 HG03453.hp2 HG03704.hp2 NA18942.hp2 NA18952.hp1 NA18957.hp1 NA18990.hp1 NA18992.hp1 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19062.hp2 NA19068.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 others(24): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0052 a0001c0001t0059 a0001c0001t0062 a0001c0001t0065 a0001c0001t0071 a0001c0001t0074 a0001c0001t0093 a0001c0001t0157 a0001c0001t0213 a0001c0001t0214 a0001c0001t0215 a0001c0001t0216 a0001c0001t0232 a0001c0001t0233 a0001c0001t0238 a0001c0001t0246 a0001c0001t0247 a0001c0006t0068	a0001c0001t0006g0091 a0001c0001t0007g0090 a0001c0001t0009g0020 others(26): Show a0001c0001t0006g0091 a0001c0001t0007g0090 a0001c0001t0009g0020 a0001c0001t0009g0066 a0001c0001t0015g0089 a0001c0001t0017g0096 a0001c0001t0022g0030 a0001c0001t0033g0029 a0001c0001t0033g0087 a0001c0001t0034g0001 a0001c0001t0039g0093 a0001c0001t0052g0014 a0001c0001t0059g0092 a0001c0001t0062g0067 a0001c0001t0065g0094 a0001c0001t0071g0085 a0001c0001t0074g0095 a0001c0001t0093g0131 a0001c0001t0157g0195 a0001c0001t0213g0084 a0001c0001t0214g0086 a0001c0001t0215g0088 a0001c0001t0216g0083 a0001c0001t0232g0119 a0001c0001t0233g0212 a0001c0001t0238g0012 a0001c0001t0246g0127 a0001c0001t0247g0126 a0001c0006t0068g0114	29	306	0.0948	-46	c.103 others(65): Show c.103+15940_103+15985delCTTCTTTCTTTCTTTCCTTCTTTCTT TCTCTTTCTTTCTTTCTTTC	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KC1_chr1_213046241_213279774	213119425	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(75): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00741.hp1 HG01070.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01993.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02602.hp1 HG02698.hp1 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03834.hp1 HG04184.hp1 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18978.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19083.hp2 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA20905.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0007 a0008c0009 a0001c0001 a0007c0007 a0008c0009	a0001c0001t0001 a0001c0001t0008 a0007c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0007c0007t0001 a0008c0009t0001	a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0025 others(75): Show a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0008g0034 a0001c0001t0008g0056 a0007c0007t0001g0299 a0008c0009t0001g0049	78	330	0.2364	-46	c.472 others(63): Show c.472+2044_472+2089delATATATATATATATATATATATATATAT ATATATATATATATATAT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTOR_chr17_80539838_80971368	80665484	TTTCCTTT others(39): Show TTTCCTTTCCTTTCCTTTCCATGTCCTTTCCTTTCCTTTCCATGTCC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0073 a0001c0048t0073	a0001c0048t0073g0144 a0001c0048t0073g0144	1	196	0.0051	-46	c.348 others(65): Show c.348+21677_348+21722delCCTTTCCTTTCCTTTCCATGTCCTTT CCTTTCCTTTCCATGTCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963426	CTGCGGCC others(39): Show CTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0063 a0001c0006t0063	a0001c0006t0063g0160 a0001c0006t0063g0160	1	196	0.0051	-46	c.393 others(63): Show c.3939+392_3939+437delCTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963633	CTGCGTCC others(39): Show CTGCGTCCCTCACCCCGTCCCCTCTGCGTCCCTCACCCCGTCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0063 a0001c0006t0063	a0001c0006t0063g0160 a0001c0006t0063g0160	1	196	0.0051	-46	c.393 others(63): Show c.3939+581_3940-579delTCCCTCACCCCGTCCCCTCTGCGTCCCT CACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSF1_chr11_77655009_77825722	77697441	TATATATA others(39): Show TATATATATAAATATATTATATAAAATATATTTATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(265): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0007 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0009 others(10): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0017 a0002c0003 a0002c0004 a0004c0006 a0005c0007 a0007c0012 a0009c0014 a0011c0018 a0012c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0040 a0001c0001t0041 a0001c0001t0052 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0068 a0001c0002t0003 a0001c0002t0010 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0024 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0009t0036 a0001c0010t0001 a0001c0017t0001 a0002c0003t0002 a0002c0003t0008 a0002c0003t0012 a0002c0003t0021 a0002c0003t0050 a0002c0004t0002 a0004c0006t0012 a0005c0007t0001 a0005c0007t0064 a0007c0012t0001 a0009c0014t0005 a0011c0018t0032 a0012c0008t0003	a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0087 others(265): Show a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0306 a0001c0001t0005g0038 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0261 a0001c0001t0005g0263 a0001c0001t0005g0291 a0001c0001t0005g0302 a0001c0001t0006g0118 a0001c0001t0006g0121 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0125 a0001c0001t0006g0127 a0001c0001t0008g0267 a0001c0001t0008g0268 a0001c0001t0008g0269 a0001c0001t0008g0270 a0001c0001t0009g0242 a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0009g0245 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0013g0273 a0001c0001t0023g0251 a0001c0001t0023g0275 a0001c0001t0025g0259 a0001c0001t0026g0256 a0001c0001t0027g0260 a0001c0001t0040g0117 a0001c0001t0041g0249 a0001c0001t0052g0265 a0001c0001t0057g0278 a0001c0001t0058g0331 a0001c0001t0059g0310 a0001c0001t0060g0257 a0001c0001t0061g0304 a0001c0001t0062g0284 a0001c0001t0063g0289 a0001c0001t0068g0352 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0010g0013 a0001c0002t0010g0350 a0001c0002t0010g0351 a0001c0002t0014g0009 a0001c0002t0014g0011 a0001c0002t0015g0051 a0001c0002t0015g0074 a0001c0002t0016g0005 a0001c0002t0016g0008 a0001c0002t0017g0006 a0001c0002t0017g0007 a0001c0002t0018g0046 a0001c0002t0018g0065 a0001c0002t0024g0026 a0001c0002t0024g0031 a0001c0002t0029g0017 a0001c0002t0030g0085 a0001c0002t0031g0075 a0001c0002t0033g0012 a0001c0002t0034g0010 a0001c0002t0035g0057 a0001c0002t0037g0060 a0001c0009t0036g0015 a0001c0010t0001g0337 a0001c0017t0001g0095 a0002c0003t0002g0099 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0227 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0233 a0002c0003t0002g0235 a0002c0003t0002g0236 a0002c0003t0002g0238 a0002c0003t0002g0239 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0301 a0002c0003t0002g0345 a0002c0003t0002g0346 a0002c0003t0002g0347 a0002c0003t0002g0348 a0002c0003t0008g0266 a0002c0003t0012g0222 a0002c0003t0021g0209 a0002c0003t0021g0212 a0002c0003t0050g0213 a0002c0004t0002g0225 a0002c0004t0002g0231 a0002c0004t0002g0232 a0002c0004t0002g0234 a0002c0004t0002g0237 a0004c0006t0012g0001 a0004c0006t0012g0002 a0005c0007t0001g0349 a0005c0007t0064g0321 a0007c0012t0001g0281 a0009c0014t0005g0258 a0011c0018t0032g0014 a0012c0008t0003g0034	268	352	0.7614	-46	c.271 others(65): Show c.2715+1000_2715+1045delTATATATTATATATAAATATATTTTA TATAATATATTTATATATAT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	7/15			chr11	TogoVar
RSPH14_chr22_23054415_23146990	23130115	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	314	0.0032	-46	c.421 others(63): Show c.421+3865_421+3910delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp1 HG03704.hp2 HG01256.hp1 HG01261.hp1 HG03704.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0013 a0001c0001 a0001c0002 a0003c0013	a0001c0001t0007 a0001c0002t0002 a0003c0013t0003 a0001c0001t0007 a0001c0002t0002 a0003c0013t0003	a0001c0001t0007g0082 a0001c0002t0002g0076 a0003c0013t0003g0086 a0001c0001t0007g0082 a0001c0002t0002g0076 a0003c0013t0003g0086	3	100	0.0300	-46	c.576 others(63): Show c.576+2942_576+2987delTATATATATATATATATATATATATATA TATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAGSIN1_chr7_6324411_6353967	6331130	CGAGGGGC others(39): Show CGAGGGGCCCTCTTCTGTCCCTCATGCTTCGTGTTCTTGGATGCGGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0324 a0001c0001t0037g0324	1	420	0.0024	-46	c.39 others(53): Show c.39_*84delACCGCATCCAAGAACACGAAGCATGAGGGACAGAAGAG GGCCCCTC	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	2/2	39		chr7	TogoVar
SALL1_chr16_51130982_51156270	51153338	TTATTTTT others(39): Show TTATTTTTTTTTATTGGTATAACTTCTCCCTTCTCTCTCCCTGCTCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02965.hp1 others(1): Show HG01884.hp2 HG02615.hp2 HG02965.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0010 a0002c0005t0001g0010	4	374	0.0107	-46	c.-21 others(57): Show c.-2143_-2098delCGAGCAGGGAGAGAGAAGGGAGAAGTTATACCAA TAAAAAAAAATA	SALL1	ENSG00000103449.13	transcript	ENST00000251020.9	protein_coding		2069		chr16	TogoVar
SAMD12_chr8_118372984_118626963	118605765	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG01168.hp2 others(40): Show HG00408.hp2 HG00642.hp2 HG01168.hp2 HG01169.hp1 HG01358.hp2 HG01496.hp2 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG04228.hp2 NA18906.hp2 NA18964.hp2 NA19030.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0002t0008 a0001c0003t0002 a0002c0004t0002	a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 others(40): Show a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0003g0008 a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0084 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0006g0043 a0001c0001t0006g0087 a0001c0001t0007g0007 a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0115 a0001c0001t0018g0089 a0001c0001t0019g0044 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0069 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0008g0080 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0060 a0001c0003t0002g0068 a0001c0003t0002g0096 a0002c0004t0002g0047	43	188	0.2287	-46	c.13+ others(63): Show c.13+15993_13+16038delATATATATATATATATATATATATATAT ATATATATATATATATAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	1/3			chr8	TogoVar
SBK2_chr19_55523611_55542133	55527553	ACACATTC others(39): Show ACACATTCACACACATGTGCACACTCACGCACACACACATACTCATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0041 a0003c0003t0041	a0003c0003t0041g0203 a0003c0003t0041g0203	1	434	0.0023	-46	c.21 others(57): Show c.2134_*2179delCATGAGTATGTGTGTGTGCGTGAGTGTGCACATG TGTGTGAATGTG	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		1057		chr19	TogoVar
SBK2_chr19_55523611_55542133	55527568	TGTGCACA others(39): Show TGTGCACACTCACGCACACACACATACTCATGGACACACATGCACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0042 a0007c0009t0042	a0007c0009t0042g0156 a0007c0009t0042g0156	1	434	0.0023	-46	c.21 others(57): Show c.2119_*2164delGTGTGCATGTGTGTCCATGAGTATGTGTGTGTGC GTGAGTGTGCAC	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		1042		chr19	TogoVar
SCAF11_chr12_45914131_45995574	45972883	TATATATA others(39): Show TATATATATAGATATATATATATATAGATATATATATAGATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp2 HG03225.hp1 HG02559.hp2 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0008 a0001c0007t0003 a0001c0007t0008	a0001c0007t0003g0294 a0001c0007t0008g0306 a0001c0007t0008g0307 a0001c0007t0003g0294 a0001c0007t0008g0306 a0001c0007t0008g0307	3	344	0.0087	-46	c.-21 others(63): Show c.-21-8741_-21-8696delCTATATATCTATATATATATCTATATAT ATATATATCTATATATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCFD2_chr4_52867982_53371061	53237496	CGGGCGGC others(39): Show CGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCTCTCTCCCAGAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 NA18970.hp2 others(2): Show HG01243.hp2 HG01884.hp1 NA18970.hp2 NA19060.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0010 a0001c0001 a0001c0003 a0004c0010	a0001c0001t0001 a0001c0003t0003 a0004c0010t0001 a0001c0001t0001 a0001c0003t0003 a0004c0010t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0123 a0001c0003t0003g0062 a0004c0010t0001g0001	5	162	0.0309	-46	c.131 others(67): Show c.1311+36284_1311+36329delATCTGGGAGAGAGGTGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCN11A_chr3_38840764_39056944	38963378	TATATATA others(39): Show TATATATATGATGGAGATATATATATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01361.hp1 others(3): Show HG00140.hp1 HG00639.hp1 HG01361.hp1 NA18959.hp2 NA18993.hp2 NA20752.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0003c0004 a0006c0024 a0001c0002 a0003c0004 a0006c0024	a0001c0002t0001 a0003c0004t0001 a0006c0024t0004 a0001c0002t0001 a0003c0004t0001 a0006c0024t0004	a0001c0002t0001g0150 a0001c0002t0001g0157 a0001c0002t0001g0175 others(3): Show a0001c0002t0001g0150 a0001c0002t0001g0157 a0001c0002t0001g0175 a0001c0002t0001g0190 a0003c0004t0001g0213 a0006c0024t0004g0039	6	314	0.0191	-46	c.-27 others(65): Show c.-279-3001_-279-2956delCTCCATCATATATATATATATATATA TATATCTCCATCATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCNN1A_chr12_6341847_6380563	6369294	TCACCTCC others(39): Show TCACCTCCCTCCTGCCACCCTACGCACCTCCCTCCTGCCACCCTACG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02615.hp1 HG01192.hp2 HG02615.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0006 a0003c0003t0002 a0003c0003t0006	a0003c0003t0002g0036 a0003c0003t0006g0228 a0003c0003t0002g0036 a0003c0003t0006g0228	2	454	0.0044	-46	c.416 others(63): Show c.416+5028_416+5073delCGTAGGGTGGCAGGAGGGAGGTGCGTAG GGTGGCAGGAGGGAGGTG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar

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