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
PPP2R2C_chr4_6315581_6477614	6336653	CTCCCTCC others(117): Show CTCCCTCCCTCCCTGCTTCCATCCCTCCCTCCCTCCCTGCTTCCATCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCTTCCCTCCCTCCCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA20300.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0008 a0001c0003t0046 a0001c0002t0008 a0001c0003t0046	a0001c0002t0008g0144 a0001c0003t0046g0264 a0001c0002t0008g0144 a0001c0003t0046g0264	2	288	0.0069	-124	c.791 others(17): Show c.791-3046_791-2923del	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP6R2_chr22_50338327_50450090	50345823	AAGTCAGT others(117): Show AAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCCTCCA GTCAGTTCCCCCCAGTCAGTGCATCCTCTAGTCAGTTCCCCCCAGTCAGT GAACCCTCCAGTCAGTGACCCACCC	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0132 a0001c0003t0027g0132	1	128	0.0078	-124	c.-14 others(19): Show c.-148+2427_-148+2550del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50433425	TGCTGGGC others(117): Show TGCTGGGCAGGGGCCGGGCACTTGCCCTGGAGGTGAACCTGGAGGAGGGC TGGGGGTGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAAC CTGGAGGAGGGCTGGGGGCGCGGAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0021 a0009c0030t0021	a0009c0030t0021g0037 a0009c0030t0021g0037	1	338	0.0030	-124	c.140 others(19): Show c.1400+1116_1400+1239del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50433794	GGATGCTG others(117): Show GGATGCTGGGCAGGGGCCGGGCATTTGCCCTGGAGGTGAACCTGGAGGAG GGCCGGGGGCATGGATGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTG AACCTGGAGGAGGGCCGGGGGCGCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02015.hp1 HG02165.hp1 HG00558.hp2 HG02015.hp1 HG02165.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0022 a0001c0001 a0012c0022	a0001c0001t0001 a0001c0001t0007 a0012c0022t0002 a0001c0001t0001 a0001c0001t0007 a0012c0022t0002	a0001c0001t0001g0035 a0001c0001t0007g0116 a0012c0022t0002g0200 a0001c0001t0001g0035 a0001c0001t0007g0116 a0012c0022t0002g0200	3	338	0.0089	-124	c.140 others(19): Show c.1401-1169_1401-1046del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50434059	CGGGCATT others(117): Show CGGGCATTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGATG CTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCCG GGGGCGCAGACGCTGGGCAGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03453.hp2 HG03491.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0011 a0016 a0017 a0018 a0020	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0014 a0001c0021 a0005c0010 a0006c0011 a0011c0020 a0016c0025 a0017c0024 a0018c0028 a0020c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0022 a0001c0001t0031 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0008 a0001c0003t0015 a0001c0003t0026 a0001c0003t0027 a0001c0003t0028 a0001c0003t0029 a0001c0005t0002 a0001c0014t0001 a0001c0021t0001 a0005c0010t0001 a0006c0011t0008 a0011c0020t0002 a0016c0025t0006 a0017c0024t0007 a0018c0028t0002 a0020c0023t0001	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 others(148): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0304 a0001c0001t0001g0318 a0001c0001t0001g0339 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0002g0145 a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0046 a0001c0001t0006g0209 a0001c0001t0007g0024 a0001c0001t0007g0076 a0001c0001t0007g0080 a0001c0001t0007g0089 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0007g0101 a0001c0001t0007g0109 a0001c0001t0007g0204 a0001c0001t0007g0208 a0001c0001t0009g0242 a0001c0001t0009g0255 a0001c0001t0009g0265 a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0020g0237 a0001c0001t0022g0316 a0001c0001t0031g0021 a0001c0003t0001g0317 a0001c0003t0001g0319 a0001c0003t0002g0036 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0077 a0001c0003t0002g0086 a0001c0003t0002g0100 a0001c0003t0002g0107 a0001c0003t0002g0112 a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0123 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0194 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0203 a0001c0003t0002g0205 a0001c0003t0002g0210 a0001c0003t0003g0178 a0001c0003t0006g0085 a0001c0003t0006g0108 a0001c0003t0006g0152 a0001c0003t0006g0213 a0001c0003t0006g0218 a0001c0003t0008g0246 a0001c0003t0008g0288 a0001c0003t0008g0296 a0001c0003t0008g0303 a0001c0003t0015g0003 a0001c0003t0015g0006 a0001c0003t0015g0007 a0001c0003t0026g0073 a0001c0003t0027g0132 a0001c0003t0028g0211 a0001c0003t0029g0122 a0001c0005t0002g0047 a0001c0005t0002g0057 a0001c0005t0002g0088 a0001c0005t0002g0110 a0001c0005t0002g0111 a0001c0005t0002g0115 a0001c0005t0002g0124 a0001c0005t0002g0125 a0001c0005t0002g0126 a0001c0005t0002g0195 a0001c0005t0002g0212 a0001c0005t0002g0219 a0001c0005t0002g0220 a0001c0005t0002g0225 a0001c0014t0001g0230 a0001c0014t0001g0320 a0001c0021t0001g0273 a0005c0010t0001g0238 a0005c0010t0001g0252 a0005c0010t0001g0259 a0005c0010t0001g0269 a0006c0011t0008g0310 a0006c0011t0008g0311 a0006c0011t0008g0312 a0006c0011t0008g0313 a0011c0020t0002g0067 a0016c0025t0006g0029 a0017c0024t0007g0030 a0018c0028t0002g0095 a0020c0023t0001g0340	151	337	0.4481	-124	c.140 others(17): Show c.1401-896_1401-773del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50434132	TCTGGAGG others(117): Show TCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCGCAGACGCTGGGCAGGGG CTGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCTGGGGGCATGGAT GCTGGGCAGGGGCCGGGCACTTGCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01433.hp1 HG02083.hp2 others(2): Show HG00558.hp1 HG01433.hp1 HG02083.hp2 HG02165.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0035 a0001c0001t0001g0256 a0001c0001t0001g0262 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0289 a0001c0001t0007g0113	5	336	0.0149	-124	c.140 others(17): Show c.1401-802_1401-679del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKN_chr6_161342417_162732766	161552332	ATGACTGT others(117): Show ATGACTGTGAATGATCTCACGGTGATCCTCCAAGCCCCTCTCCCTCAGCT CTGTTCACCTCCACCTATGACTGTGAATGATCTCACGGTGATCCTCCAAG CCTCTCTCCCTCAGCTCTGTTCACC	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA18522.hp2 HG02897.hp1 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0002 a0006c0010t0004 a0001c0001t0002 a0006c0010t0004	a0001c0001t0002g0022 a0006c0010t0004g0013 a0001c0001t0002g0022 a0006c0010t0004g0013	2	32	0.0625	-124	c.934 others(17): Show c.934-3453_934-3330del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	8/11			chr6	TogoVar
PTGES3_chr12_56658349_56693284	56686592	GTCTCGAA others(117): Show GTCTCGAACTCCCGACCTCAGGTGATCCGCCCGCCTCGGCCTCTCAGAGT GCTGGGATCACAGTTGTGAGCCACCGCGCCCAGCCTAATTCAAATTTTTT AAAACCCCGATTACGTATCACTTTC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0350 a0001c0001t0003g0350	1	370	0.0027	-124	c.2+1 others(13): Show c.2+1282_2+1405del	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGR1_chr9_111557567_111604647	111560986	GAGAGAGA others(117): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGTGGCAGTGAGTGGAGA TCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTAAAA TATATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02451.hp2 others(1): Show HG02055.hp1 HG02145.hp1 HG02451.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0224 others(1): Show a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0224 a0002c0002t0002g0227	4	403	0.0099	-124	c.20 others(11): Show c.2011_*2134del	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1580		chr9	TogoVar
PXYLP1_chr3_141226825_141299924	141248627	GTATATAT others(117): Show GTATATATACACACGTGTATATATACACACGTATATATACACACACGTGT ATATATACACACGTATATACACACACGTGTATATATACACACGTATATAC ACACACGTGTATATATACACACGTA	G G	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0209 a0001c0007t0002g0209	1	382	0.0026	-124	c.-53 others(19): Show c.-53-11482_-53-11359del	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PZP_chr12_9143840_9213395	9197715	CATAATAT others(117): Show CATAATATATATAATTATATATTATACAATACATAATATATATAATTATA TATTATACAATACATAATATATATAATTATATATTATACAATACATAATA TATATAATTATATATTATACAATAT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02145.hp1 HG02486.hp2 others(1): Show HG01993.hp1 HG02145.hp1 HG02486.hp2 HG03225.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0021 a0003c0022 a0007c0005 a0001c0021 a0003c0022 a0007c0005	a0001c0021t0001 a0003c0022t0001 a0007c0005t0001 a0001c0021t0001 a0003c0022t0001 a0007c0005t0001	a0001c0021t0001g0119 a0003c0022t0001g0122 a0007c0005t0001g0118 others(1): Show a0001c0021t0001g0119 a0003c0022t0001g0122 a0007c0005t0001g0118 a0007c0005t0001g0120	4	267	0.0150	-124	c.756 others(15): Show c.756-716_756-593del	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	7/35			chr12	TogoVar
RAB11FIP3_chr16_420649_528011	481537	AGCAAGCT others(117): Show AGCAAGCTCCTCCGTCAGTCTCTTGAGTAGCTGGGACCTACAGGCAGGTG CCACCACACCTGGGCAAGCTCCTCCGTCAGTCTCTTGAGTAGCTGGGACC TACAGGCAGGTGCCACCACACCTGG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	290	0.0034	-124	c.904 others(15): Show c.904-763_904-640del	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7186219	TATATAAA others(117): Show TATATAAACATAAACATATTTATATAAACATAAACATATTTATATAAACA TAAACATAAACATATTTATATAAATATAAACATAAACATATTTATATAAA TATAAACATAAACATATTTATATAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19240.hp1 HG03139.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0019 a0001c0001t0010 a0001c0001t0019	a0001c0001t0010g0035 a0001c0001t0019g0047 a0001c0001t0010g0035 a0001c0001t0019g0047	2	41	0.0488	-124	c.27+ others(19): Show c.27+134149_27+134272del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM10_chrX_47140221_47191813	47148585	TATGTATC others(117): Show TATGTATCCTTCTATGATACATATCATAGAAAATGTATCCTTCTATGATA CATATCATAGAAAATGTATCCTTCTATGATACATATCATAGAAAATGTAT CCTTCTATGATACATATCATAGAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp1 others(20): Show HG01167.hp1 HG01169.hp1 HG01884.hp1 HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03130.hp1 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0050 a0001c0001t0001g0101 a0001c0001t0001g0138 others(20): Show a0001c0001t0001g0050 a0001c0001t0001g0101 a0001c0001t0001g0138 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0120 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0002t0002g0088 a0001c0002t0002g0123 a0001c0002t0002g0124	23	99	0.2323	-124	c.17+ others(15): Show c.17+1343_17+1466del	RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBX1_chr22_40946378_40978309	40957334	AAACTCTG others(117): Show AAACTCTGTCTCAAAAAAAAAGACACTCTTGGCCAGGTGAGGTGGGTCAC ACCTGTAAACCCAAGACTTTGGGTGGCTGAGGCGGGCAGATCGCTTGAGC CTAGGAGTTCAAGACCAGCCTGGGC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03041.hp1 HG03471.hp1 others(1): Show HG00639.hp2 HG03041.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045	4	318	0.0126	-124	c.157 others(17): Show c.157+3705_157+3828del	RBX1	ENSG00000100387.9	transcript	ENST00000216225.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
RGS20_chr8_53846795_53964303	53948641	ATATATAA others(117): Show ATATATAAGATACAGTACATATTTACATATGCTATATAAGATACAGTACA TATTTACATATGCTATATAAGATACAGTACATATTTACATATGCTATATA AGATACAGTACATATTTACATATGC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp1 NA18973.hp1 others(1): Show HG02818.hp1 HG02896.hp1 NA18973.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0001t0001 a0001c0001t0002 a0001c0003t0003	a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0002g0131 others(1): Show a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0002g0131 a0001c0003t0003g0025	4	149	0.0268	-124	c.743 others(17): Show c.743+2127_743+2250del	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGSL1_chr1_182445146_182565597	182509314	GGCTGACC others(117): Show GGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCGGGCAGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03927.hp2 HG03098.hp2 HG03927.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0001 a0001c0004t0001 a0003c0003t0001	a0001c0004t0001g0012 a0003c0003t0001g0207 a0001c0004t0001g0012 a0003c0003t0001g0207	2	336	0.0060	-124	c.182 others(21): Show c.1826-12688_1826-12565del	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMBP2_chr12_130391133_130721299	130482970	GACCTCAT others(117): Show GACCTCATCCAATTACACCCATTGTGTGTGTACATGTGTCAGATTCTGCA GGGGAGGGGGCAGACCTCATCCAAATACACCCACTGTGTGTGTACATGTG TCAGATTCTGCAGGGGAGGGGGCAC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0023 a0002c0010t0001g0023	1	122	0.0082	-124	c.-3- others(15): Show c.-3-4078_-3-3955del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIPK1_chr6_3063494_3120187	3090743	TGCACCTA others(117): Show TGCACCTAATAACCGCAGCGCACCTACCTGCCGCACCTAGTAACCGCAGA GCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACCT AGTAACCGCAGAGTACCTACCTGCC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18906.hp1 HG01074.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0220 a0001c0001t0013g0055 a0001c0001t0001g0220 a0001c0001t0013g0055	2	311	0.0064	-124	c.915 others(17): Show c.915+1094_915+1217del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090857	ACCTACCT others(117): Show ACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp1 HG01070.hp1 others(7): Show HG00438.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG01261.hp2 HG01978.hp2 NA18941.hp2 NA19000.hp1 NA19011.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0005 a0004c0006t0001 a0001c0001t0001 a0001c0001t0005 a0004c0006t0001	a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0099 others(7): Show a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0001g0139 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0222 a0001c0001t0001g0270 a0001c0001t0005g0169 a0004c0006t0001g0094	10	240	0.0417	-124	c.915 others(17): Show c.915+1321_915+1444del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090978	CGCGCCTA others(117): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00597.hp2 others(12): Show HG00099.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG01071.hp2 HG01516.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG04199.hp2 HG04204.hp2 NA18955.hp1 NA18983.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0026 a0001c0001t0001 a0001c0001t0024 a0001c0001t0026	a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0035 others(12): Show a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0063 a0001c0001t0001g0084 a0001c0001t0001g0113 a0001c0001t0001g0137 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0195 a0001c0001t0001g0263 a0001c0001t0001g0306 a0001c0001t0001g0315 a0001c0001t0024g0141 a0001c0001t0026g0252	15	208	0.0721	-124	c.915 others(17): Show c.915+1352_915+1475del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091136	GCCTACCT others(117): Show GCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGTA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG01070.hp2 others(13): Show HG00609.hp2 HG00673.hp1 HG01070.hp2 HG01168.hp2 HG01169.hp1 HG01884.hp2 HG02056.hp1 NA18939.hp1 NA18962.hp1 NA18977.hp2 NA18990.hp2 NA19009.hp2 NA19011.hp2 NA19056.hp2 NA19060.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0021	a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0064 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0264 a0001c0001t0016g0006 a0001c0002t0001g0196 a0001c0002t0002g0001 a0001c0002t0002g0072 a0001c0002t0002g0089 a0001c0002t0002g0140 a0001c0002t0002g0147 a0001c0002t0021g0001	16	338	0.0473	-124	c.915 others(17): Show c.915+1507_915+1630del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091167	GCCTACCT others(117): Show GCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACC TGCCGCACCTAGTAACCGCAGCGCG	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02056.hp2 HG01496.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0182 a0001c0001t0001g0045 a0001c0001t0001g0182	2	328	0.0061	-124	c.915 others(17): Show c.915+1538_915+1661del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091198	GCCTACCT others(117): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCG	G G	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	324	0.0031	-124	c.915 others(17): Show c.915+1600_915+1723del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091229	GCCTACCT others(117): Show GCCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCG	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	239	0.0042	-124	c.915 others(17): Show c.915+1600_915+1723del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091536	AGCGCCTA others(117): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	284	0.0035	-124	c.915 others(17): Show c.915+1910_915+2033del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091567	AGCGCCTA others(117): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp2 HG01109.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0019 a0001c0001t0008g0236 a0001c0001t0001g0019 a0001c0001t0008g0236	2	304	0.0066	-124	c.915 others(17): Show c.915+1941_915+2064del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091908	CGCGCCTA others(117): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp1 HG01069.hp1 others(36): Show HG00140.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01516.hp1 HG01934.hp1 HG01978.hp2 HG02040.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG02970.hp1 HG03017.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03654.hp1 NA18990.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19081.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0001t0024 a0001c0002t0001 a0002c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(35): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0247 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0302 a0001c0001t0005g0169 a0001c0001t0005g0175 a0001c0001t0005g0273 a0001c0001t0009g0003 a0001c0001t0009g0126 a0001c0001t0017g0301 a0001c0001t0024g0141 a0001c0002t0001g0135 a0001c0002t0001g0234 a0002c0005t0001g0016	39	237	0.1646	-124	c.915 others(17): Show c.915+2282_915+2405del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091939	AGCGCCTA others(117): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGC	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	266	0.0038	-124	c.915 others(17): Show c.915+2282_915+2405del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10			chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091970	AGCGCCTA others(117): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGC	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19083.hp1 NA18946.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0080 a0001c0001t0005g0061 a0001c0001t0001g0080 a0001c0001t0005g0061	2	275	0.0073	-124	c.915 others(17): Show c.915+2313_915+2436del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10			chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092032	AGCGCCTA others(117): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	212	0.0047	-124	c.915 others(17): Show c.915+2437_915+2560del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092550	GAACCGCA others(117): Show GAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	326	0.0031	-124	c.915 others(17): Show c.915+2902_915+3025del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092621	CGCGCCTA others(117): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03516.hp2 HG01109.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0008 a0001c0001t0008 a0001c0002t0008	a0001c0001t0008g0236 a0001c0002t0008g0237 a0001c0001t0008g0236 a0001c0002t0008g0237	2	290	0.0069	-124	c.915 others(17): Show c.915+3026_915+3149del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093582	AGCGCCTA others(117): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp2 HG02895.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0320 a0001c0001t0001g0048 a0001c0001t0001g0320	2	138	0.0145	-124	c.915 others(17): Show c.915+4199_915+4322del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPS6KA6_chrX_84053350_84193199	84191533	TATATATA others(117): Show TATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG03927.hp2 others(5): Show HG00423.hp2 HG00558.hp1 HG03927.hp2 NA18991.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0097 others(5): Show a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0100 a0001c0001t0004g0131 a0001c0001t0013g0096 a0001c0001t0013g0117	8	258	0.0310	-124	c.-37 others(11): Show c.-3758_-3635del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3335		chrX	TogoVar
RRM2B_chr8_102199502_102243961	102209351	TACTTCTT others(117): Show TACTTCTTTAAAGAAGATATACAAAATGAAAAGATGCTCAGCATCCTTAT CCATTAGAGACATGCAAATCAAGATCACAATGAGATACCACTTCCCACCT ACTCGGATGGCTATAATTTTTTAAA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0222 a0001c0001t0004g0222	1	384	0.0026	-124	c.904 others(17): Show c.904-1190_904-1067del	RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	8/8			chr8	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(117): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0058 a0001c0002t0006g0058	1	194	0.0052	-124	c.-47 others(11): Show c.-4727_-4604del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCGB1C2_chr17_132569_144067	140897	CTGGTGAG others(117): Show CTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGAC ATAGGGGGGCCTTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG03098.hp2 others(1): Show HG02258.hp1 HG02559.hp2 HG03098.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	4	401	0.0100	-124	c.19 others(11): Show c.1956_*2079del	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1831		chr17	TogoVar
SCN11A_chr3_38840764_39056944	38877020	TGTATATA others(117): Show TGTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGGTGTATATACTATATATATG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02809.hp1 HG01074.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0280 a0001c0001t0003g0277 a0001c0001t0003g0280	2	298	0.0067	-124	c.339 others(19): Show c.3393+2806_3393+2929del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SDHA_chr5_213320_262082	259777	AGCTCCGC others(117): Show AGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCG AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 NA19010.hp2 HG01167.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0078 a0001c0001t0004g0001 a0001c0001t0001g0078 a0001c0001t0004g0001	2	263	0.0076	-124	c.33 others(11): Show c.3358_*3481del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2696		chr5	TogoVar
SELENOT_chr3_150598321_150635436	150632164	AGTATAAT others(117): Show AGTATAATATAAAATAACTGGTTTGAATTGCCAGATTTTCTCAGAGCAAA CCAGGCAATAGCATACCTACATTATCCTTAATTTACAGTGACAACTGATT TTGATTTTCACATTAAGCAAAAATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	378	0.0026	-124	c.45 others(11): Show c.4536_*4659del	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		1729		chr3	TogoVar
SGCZ_chr8_14079845_15243431	14551465	TATATATA others(117): Show TATATATATTATATATTATATATATTATATATATTATATATATTATATAT ATTATATATAATATATATAATATATATAATATATATAATATATATTATAT ATATAATATATATATAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02976.hp1 HG01192.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0091 a0001c0001t0037 a0001c0001t0091	a0001c0001t0037g0032 a0001c0001t0091g0102 a0001c0001t0037g0032 a0001c0001t0091g0102	2	101	0.0198	-124	c.234 others(17): Show c.234+3143_234+3266del	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14992316	CCCCTCAC others(117): Show CCCCTCACCCATCCTCCTCATCCAATCTACTCCCAAATCTACTCCCAAAA CCAATGTTACCCTTGCTATTTACCTCTCACCCTCAACTATTCAACTCCAA AACTAATGTTGGCATTGATATTTAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0045 a0001c0001t0050g0045	1	102	0.0098	-124	c.39+ others(19): Show c.39+245145_39+245268del	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14992369	ATGTTACC others(117): Show ATGTTACCCTTGCTATTTACCTCTCACCCTCAACTATTCAACTCCAAAAC TAATGTTGGCATTGATATTTATCCCTCACCCATCCTCCTCATCCAATCTA CTCCCAAATCTACTCCCAAAACCAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp1 HG02055.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0049 a0001c0001t0042 a0001c0001t0049	a0001c0001t0042g0040 a0001c0001t0049g0046 a0001c0001t0042g0040 a0001c0001t0049g0046	2	102	0.0196	-124	c.39+ others(19): Show c.39+245092_39+245215del	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368622	ATATATAT others(117): Show ATATATATAATATATATGTTATATATATAAAATATATATATTATATATAT ATAAAATATATATGTTATATATATAAAATATATATATATTATATATATAT AAAATATATATTTAATATATGTAAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0059 a0001c0003t0059	a0001c0003t0059g0048 a0001c0003t0059g0048	1	278	0.0036	-124	c.427 others(17): Show c.427+5044_427+5167del	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SIGIRR_chr11_400716_419999	401229	GCCCCGCT others(117): Show GCCCCGCTCACACCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTC ACACCCGGCCCCGCTCACACCCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0188 a0001c0006t0001g0188	1	229	0.0044	-124	c.45 others(11): Show c.4543_*4666del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4486		chr11	TogoVar
SIGIRR_chr11_400716_419999	402020	CCCCGGAC others(117): Show CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGG CCCCGCTCACCCCCGGCTCCACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	237	0.0042	-124	c.37 others(11): Show c.3752_*3875del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3695		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1048413	GAATGGGC others(117): Show GAATGGGCTAGTGTGTGTCAGTGGGTTAATGTGTGAATGAGTTGGTGAAT GTGTGAACGAGTGGGCGTTAGTGTGTGAATGAGGGTGTGTGAACGAGTGG GTGGGTTAGTGAATGAGTGTGCGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0093 a0001c0014t0003g0093	1	118	0.0085	-124	c.38 others(11): Show c.3823_*3946del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		1970		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071892	CATCACAC others(117): Show CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCAGTGAGCCCCCAGCACACGGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0009 a0006c0019t0009	a0006c0019t0009g0013 a0006c0019t0009g0013	1	112	0.0089	-124	c.224 others(19): Show c.2241+1617_2241+1740del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC6A12_chr12_185081_219157	192800	GGCATCAT others(117): Show GGCATCATTCACATCACAGACGGAGACAGGAGGCGATACAAAGGAAGGGA GGGGCTCGGAAGAGCATCATTCACATCACAGACGGAGACAGGAGGCGATA CAAAGGAAGGGAGGGGCTCGGAAGA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19005.hp2 NA18951.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0035 a0001c0004t0002g0036 a0001c0004t0002g0035 a0001c0004t0002g0036	2	186	0.0108	-124	c.153 others(17): Show c.1531-276_1531-153del	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	14/15			chr12	TogoVar

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