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	6350444	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01099.hp2 others(10): Show HG00140.hp1 HG00741.hp1 HG01099.hp2 HG01175.hp2 HG02451.hp1 HG02559.hp1 HG02735.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0023 a0001c0001t0031 a0001c0001t0032 a0001c0001t0041 a0001c0001t0042 a0001c0004t0001	a0001c0001t0001g0067 a0001c0001t0002g0004 a0001c0001t0002g0015 others(10): Show a0001c0001t0001g0067 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0004g0057 a0001c0001t0008g0034 a0001c0001t0012g0054 a0001c0001t0023g0047 a0001c0001t0031g0056 a0001c0001t0032g0068 a0001c0001t0041g0021 a0001c0001t0042g0022 a0001c0004t0001g0060	13	14	0.9286	-23	c.-64 others(42): Show c.-64+33420_-64+33442delAAAAAAAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6380398	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	2	0.5000	-23	c.-64 others(42): Show c.-64+63367_-64+63389delTTTTTTTTTTTTTTTTTTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6478409	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02148.hp1 HG03831.hp2 HG01261.hp1 HG02148.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0035 a0001c0001t0001 a0001c0001t0005 a0001c0001t0035	a0001c0001t0001g0063 a0001c0001t0005g0058 a0001c0001t0035g0065 a0001c0001t0001g0063 a0001c0001t0005g0058 a0001c0001t0035g0065	3	67	0.0448	-23	c.-64 others(44): Show c.-64+161354_-64+161376delATATATATATATATATATATTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6478411	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	68	0.0147	-23	c.-64 others(44): Show c.-64+161356_-64+161378delATATATATATATATATATTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6562853	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18522.hp1 HG02965.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0018 a0001c0001t0014 a0001c0001t0018	a0001c0001t0014g0046 a0001c0001t0018g0052 a0001c0001t0014g0046 a0001c0001t0018g0052	2	68	0.0294	-23	c.-63 others(42): Show c.-63-91747_-63-91725delCTTTCTTTCTTTCTTTCTTTCTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6562860	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	68	0.0147	-23	c.-63 others(42): Show c.-63-91739_-63-91717delCTTTCTTTCTTTCTTTCTTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6636760	TATATATA others(16): Show TATATATAATATATAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp2 HG03139.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0023 a0001c0001t0022 a0001c0001t0023	a0001c0001t0022g0009 a0001c0001t0023g0047 a0001c0001t0022g0009 a0001c0001t0023g0047	2	31	0.0645	-23	c.-63 others(42): Show c.-63-17829_-63-17807delAATATATATAATATATAATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6641734	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03471.hp2 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0039 a0001c0001t0019 a0001c0001t0039	a0001c0001t0019g0055 a0001c0001t0039g0019 a0001c0001t0019g0055 a0001c0001t0039g0019	2	41	0.0488	-23	c.-63 others(42): Show c.-63-12847_-63-12825delAAAAAAAAAAAAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7008663	CCCTCCCT others(16): Show CCCTCCCTCCCTTCCTCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03579.hp1 HG03195.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0043 a0001c0001t0022 a0001c0001t0043	a0001c0001t0022g0009 a0001c0001t0043g0003 a0001c0001t0022g0009 a0001c0001t0043g0003	2	68	0.0294	-23	c.-15 others(42): Show c.-15-43382_-15-43360delTCCTCCTCCCTTCCTCCCTCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504747	ATATATAT others(16): Show ATATATATTTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp2 NA18962.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0040 a0001c0001t0007g0230 a0001c0001t0005g0040 a0001c0001t0007g0230	2	221	0.0090	-23	c.88- others(40): Show c.88-13398_88-13376delATATATTTATATATATATATATT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79579841	TGCTGTGG others(16): Show TGCTGTGGTGGGGGGGTCACTGGC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18906.hp1 NA19043.hp2 HG03579.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0023 a0001c0001t0004 a0001c0001t0023	a0001c0001t0004g0092 a0001c0001t0004g0122 a0001c0001t0023g0127 a0001c0001t0004g0092 a0001c0001t0004g0122 a0001c0001t0023g0127	3	150	0.0200	-23	c.-32 others(44): Show c.-320+30962_-320+30984delGCCAGTGACCCCCCCACCACAGC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBM26_chr13_79313868_79411255	79400387	GGCAGAAG others(16): Show GGCAGAAGTCAGAGGTCTCCCATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02647.hp2 others(6): Show HG02109.hp2 HG02257.hp1 HG02647.hp2 HG02976.hp2 HG03017.hp2 HG03195.hp2 HG06807.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0012 a0001c0003t0012 a0001c0003t0014 a0001c0002t0012 a0001c0003t0012 a0001c0003t0014	a0001c0002t0012g0177 a0001c0003t0012g0175 a0001c0003t0012g0176 others(6): Show a0001c0002t0012g0177 a0001c0003t0012g0175 a0001c0003t0012g0176 a0001c0003t0012g0178 a0001c0003t0012g0288 a0001c0003t0014g0278 a0001c0003t0014g0279 a0001c0003t0014g0280 a0001c0003t0014g0281	9	326	0.0276	-23	c.71+ others(38): Show c.71+5294_71+5316delTATGGGAGACCTCTGACTTCTGC	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	1/21			chr13	TogoVar
RBM47_chr4_40418280_40634864	40423685	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0042 a0001c0004t0011g0042	1	276	0.0036	-23	c.21 others(34): Show c.2196_*2218delGAAAGAAAGAAAGAAAGAAAGAA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	7/7	2196		chr4	TogoVar
RBM47_chr4_40418280_40634864	40592959	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	250	0.0040	-23	c.-24 others(44): Show c.-240+36414_-240+36436delAAATATATATATATATATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM5_chr3_50083919_50124021	50106118	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02451.hp2 others(14): Show HG01243.hp1 HG01884.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03540.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0052 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0002c0005t0001g0006	17	51	0.3333	-23	c.855 others(38): Show c.855+421_855+443delTTTTTTTTTTTTTTTTTTTTTTT	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29559510	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01934.hp2 HG02055.hp2 others(11): Show HG01928.hp2 HG01934.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02698.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 NA18994.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0016 a0001c0001t0025 others(10): Show a0001c0001t0011 a0001c0001t0016 a0001c0001t0025 a0001c0001t0029 a0001c0001t0040 a0001c0001t0044 a0001c0001t0058 a0001c0001t0062 a0001c0001t0068 a0001c0001t0071 a0001c0001t0074 a0001c0001t0083 a0001c0001t0085	a0001c0001t0011g0033 a0001c0001t0011g0035 a0001c0001t0016g0063 others(11): Show a0001c0001t0011g0033 a0001c0001t0011g0035 a0001c0001t0016g0063 a0001c0001t0025g0009 a0001c0001t0029g0116 a0001c0001t0040g0102 a0001c0001t0044g0061 a0001c0001t0058g0021 a0001c0001t0062g0086 a0001c0001t0068g0109 a0001c0001t0071g0079 a0001c0001t0074g0029 a0001c0001t0083g0017 a0001c0001t0085g0014	14	34	0.4118	-23	c.308 others(42): Show c.308-27583_308-27561delAAAAAAAAAAAAAAAAAAAAAAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29820188	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0096 a0001c0002t0010g0096	1	24	0.0417	-23	c.638 others(42): Show c.638-48638_638-48616delAAAAAAAAAAAAAAAAAAAAAAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBP5_chr12_7118686_7133889	7126513	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0069 a0003c0003t0001g0069	1	103	0.0097	-23	c.252 others(40): Show c.252+1704_252+1726delACACACACACACACACACACACA	RBP5	ENSG00000139194.8	transcript	ENST00000266560.8	protein_coding	2/3			chr12	TogoVar
RBPJL_chr20_45301840_45322824	45316042	TCCAAGCT others(16): Show TCCAAGCTGAGGGGACAAGTGAAC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	444	0.0023	-23	c.102 others(40): Show c.1021-142_1021-120delAAGCTGAGGGGACAAGTGAACCC	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBPMS_chr8_30379541_30577256	30511479	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp1 others(65): Show HG00099.hp2 HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01192.hp2 HG01256.hp2 HG02015.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02572.hp1 HG02630.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02976.hp1 HG03017.hp1 HG03195.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18955.hp1 NA18966.hp2 NA18968.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18984.hp1 NA18992.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19070.hp1 NA19081.hp1 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0022 a0001c0001t0024	a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0029 others(65): Show a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0148 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0212 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0085 a0001c0001t0002g0091 a0001c0001t0002g0097 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0003g0025 a0001c0001t0003g0041 a0001c0001t0003g0055 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0198 a0001c0001t0003g0204 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0249 a0001c0001t0003g0252 a0001c0001t0003g0280 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0004g0023 a0001c0001t0004g0213 a0001c0001t0004g0218 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0239 a0001c0001t0004g0274 a0001c0001t0005g0061 a0001c0001t0005g0077 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0089 a0001c0001t0005g0295 a0001c0001t0006g0068 a0001c0001t0006g0297 a0001c0001t0007g0163 a0001c0001t0022g0038 a0001c0001t0024g0012	68	274	0.2482	-23	c.397 others(40): Show c.397+7045_397+7067delAAAAAAATATATATATATATATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30511481	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01169.hp2 HG01358.hp2 others(16): Show HG00558.hp2 HG01169.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp2 HG02027.hp1 HG02040.hp1 HG02165.hp1 HG02273.hp2 HG02630.hp1 HG02717.hp1 HG03098.hp1 HG03579.hp1 NA18747.hp2 NA18994.hp2 NA19058.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0016 others(16): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0016 a0001c0001t0003g0145 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0196 a0001c0001t0003g0203 a0001c0001t0003g0208 a0001c0001t0003g0277 a0001c0001t0004g0272 a0001c0001t0005g0118 a0001c0001t0005g0143 a0001c0001t0006g0298 a0001c0001t0006g0299 a0001c0001t0007g0160 a0001c0001t0012g0146 a0001c0001t0012g0147 a0001c0001t0012g0179	19	230	0.0826	-23	c.397 others(40): Show c.397+7047_397+7069delAAAAATATATATATATATATATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30511483	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18945.hp2 HG02074.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0158 a0001c0001t0005g0300 a0001c0001t0003g0158 a0001c0001t0005g0300	2	298	0.0067	-23	c.397 others(40): Show c.397+7049_397+7071delAAATATATATATATATATATATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30519458	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03579.hp2 NA19081.hp1 others(1): Show HG01975.hp2 HG03579.hp2 NA19081.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0024 a0001c0001t0001 a0001c0001t0003 a0001c0001t0024	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0003g0138 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0003g0138 a0001c0001t0024g0012	4	11	0.3636	-23	c.397 others(42): Show c.397+15042_397+15064delTTTTTTTTTTTTTTTTTTTTTTT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBSN_chr3_15065073_15104148	15078772	AAAAATAC others(16): Show AAAAATACATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03688.hp1 HG03654.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0058 a0002c0002t0004g0064 a0002c0002t0004g0058 a0002c0002t0004g0064	2	335	0.0060	-23	c.912 others(38): Show c.912-634_912-612delATATATATATATATATGTATTTT	RBSN	ENSG00000131381.12	transcript	ENST00000253699.7	protein_coding	10/13			chr3	TogoVar
RC3H2_chr9_122839556_122910359	122868873	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTATGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(100): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18961.hp2 NA18978.hp1 NA19043.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0009 a0004c0008 a0001c0001 a0003c0009 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0003c0009t0001 a0004c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(93): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0003g0001 a0001c0001t0003g0041 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0218 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0262 a0001c0001t0003g0280 a0001c0001t0003g0287 a0001c0001t0009g0236 a0001c0001t0009g0238 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0231 a0001c0001t0014g0300 a0001c0001t0014g0301 a0001c0001t0020g0255 a0001c0001t0024g0250 a0001c0001t0026g0261 a0001c0001t0028g0291 a0003c0009t0001g0286 a0004c0008t0001g0036	103	318	0.3239	-23	c.132 others(42): Show c.1326-3239_1326-3217delACACATACACACACACACACACA	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RCAN2_chr6_46215736_46496449	46315901	AGTTTGGA others(16): Show AGTTTGGAAGAGACAAGAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00544.hp1 others(110): Show HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA19002.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19070.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021	a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 others(110): Show a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0003g0058 a0001c0001t0003g0069 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0097 a0001c0001t0003g0104 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0127 a0001c0001t0003g0147 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0102 a0001c0001t0004g0105 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0005g0054 a0001c0001t0005g0066 a0001c0001t0005g0068 a0001c0001t0005g0071 a0001c0001t0005g0091 a0001c0001t0005g0094 a0001c0001t0005g0096 a0001c0001t0005g0103 a0001c0001t0005g0106 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0006g0008 a0001c0001t0006g0018 a0001c0001t0006g0040 a0001c0001t0008g0020 a0001c0001t0008g0030 a0001c0001t0009g0090 a0001c0001t0009g0095 a0001c0001t0010g0001 a0001c0001t0011g0005 a0001c0001t0012g0021 a0001c0001t0014g0035 a0001c0001t0015g0101 a0001c0001t0016g0051 a0001c0001t0018g0149 a0001c0001t0020g0156 a0001c0001t0021g0157	113	158	0.7152	-23	c.226 others(42): Show c.226-67028_226-67006delCTCTTTTCTTGTCTCTTCCAAAC	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCC1_chr1_28501043_28543989	28533845	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp2 HG02723.hp2 others(5): Show HG02145.hp2 HG02717.hp2 HG02723.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0002 a0001c0003t0002 a0001c0005t0002	a0001c0003t0002g0221 a0001c0003t0002g0228 a0001c0003t0002g0230 others(5): Show a0001c0003t0002g0221 a0001c0003t0002g0228 a0001c0003t0002g0230 a0001c0003t0002g0245 a0001c0003t0002g0246 a0001c0003t0002g0247 a0001c0003t0002g0248 a0001c0005t0002g0236	8	40	0.2000	-23	c.442 others(40): Show c.442-1177_442-1155delTTTTTTTTTTTTTTTTTTTTTTT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCOR1_chr14_102587649_102735561	102653960	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0055	1	290	0.0034	-23	c.362 others(42): Show c.362-27932_362-27910delCTTTCTTTCTTTCTTTCTTTCTT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RECK_chr9_36031913_36129455	36104306	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	390	0.0026	-23	c.143 others(40): Show c.1436-835_1436-813delATATATATATATATATATATTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36104312	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0253 a0002c0003t0001g0253	1	386	0.0026	-23	c.143 others(40): Show c.1436-829_1436-807delATATATATATATATTTTTTTTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RELL1_chr4_37605634_37691376	37633408	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19003.hp2 NA19009.hp2 HG02970.hp2 NA19003.hp2 NA19009.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0007 a0002c0004t0041 a0003c0005t0002 a0001c0001t0007 a0002c0004t0041 a0003c0005t0002	a0001c0001t0007g0173 a0002c0004t0041g0007 a0003c0005t0002g0185 a0001c0001t0007g0173 a0002c0004t0041g0007 a0003c0005t0002g0185	3	4	0.7500	-23	c.680 others(40): Show c.680+1456_680+1478delTTTTTTTTTTTTTTTTTTTTTTT	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	5/6			chr4	TogoVar
RERE_chr1_8347404_8822640	8386010	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0014 a0001c0019t0014	a0001c0019t0014g0123 a0001c0019t0014g0123	1	202	0.0050	-23	c.128 others(44): Show c.1285-20059_1285-20037delAAAAAAAAAAATATATATATATA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8444772	CTTCTTCC others(16): Show CTTCTTCCACCATGTGATGTGGTG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03471.hp1 HG03041.hp1 HG03471.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0021 a0005c0013t0029 a0005c0013t0021 a0005c0013t0029	a0005c0013t0021g0022 a0005c0013t0029g0111 a0005c0013t0021g0022 a0005c0013t0029g0111	2	202	0.0099	-23	c.120 others(44): Show c.1203+21130_1203+21152delCACCACATCACATGGTGGAAGAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	11/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502086	GCGCCTCT others(16): Show GCGCCTCTGCCCGGCTGCCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0014 a0001c0019t0014	a0001c0019t0014g0123 a0001c0019t0014g0123	1	202	0.0050	-23	c.880 others(40): Show c.880-4580_880-4558delGTAGGGGCAGCCGGGCAGAGGCG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8633364	AGTGAGCT others(16): Show AGTGAGCTATAATAGCACCACTGC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG03130.hp1 others(3): Show HG02622.hp1 HG02886.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0001c0019	a0001c0002t0002 a0001c0002t0032 a0001c0004t0010 others(3): Show a0001c0002t0002 a0001c0002t0032 a0001c0004t0010 a0001c0004t0027 a0001c0005t0034 a0001c0019t0014	a0001c0002t0002g0157 a0001c0002t0032g0155 a0001c0004t0010g0107 others(3): Show a0001c0002t0002g0157 a0001c0002t0032g0155 a0001c0004t0010g0107 a0001c0004t0027g0106 a0001c0005t0034g0156 a0001c0019t0014g0123	6	202	0.0297	-23	c.326 others(40): Show c.326-9007_326-8985delGCAGTGGTGCTATTATAGCTCAC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	2/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8635939	TATTTTAT others(16): Show TATTTTATTTTATCTTATCTTATC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03195.hp2 HG03453.hp2 HG02886.hp2 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0019 a0001c0004 a0001c0019	a0001c0004t0010 a0001c0004t0027 a0001c0019t0014 a0001c0004t0010 a0001c0004t0027 a0001c0019t0014	a0001c0004t0010g0107 a0001c0004t0027g0106 a0001c0019t0014g0123 a0001c0004t0010g0107 a0001c0004t0027g0106 a0001c0019t0014g0123	3	199	0.0151	-23	c.326 others(42): Show c.326-11582_326-11560delGATAAGATAAGATAAAATAAAAT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	2/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15148847	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01934.hp1 others(13): Show HG01109.hp1 HG01884.hp1 HG01934.hp1 HG02055.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02886.hp2 HG02895.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03516.hp1 NA18522.hp1 NA19030.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0001c0001t0003 a0003c0004t0003	a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0094 others(13): Show a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0167 a0001c0001t0003g0279 a0001c0001t0003g0286 a0003c0004t0003g0039	16	58	0.2759	-23	c.62- others(40): Show c.62-27751_62-27729delAAAAAAAAAAAAAAAAAAAAAAA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RETREG1_chr5_16468053_16621997	16601346	CAAAATTT others(16): Show CAAAATTTTTAAAAAAGAGGAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp1 others(52): Show HG00099.hp1 HG00280.hp2 HG00544.hp1 HG00642.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01934.hp1 HG01981.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02523.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18522.hp2 NA18950.hp2 NA18955.hp1 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18979.hp2 NA18986.hp1 NA18986.hp2 NA19056.hp1 NA19067.hp1 NA19083.hp2 NA19086.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0002t0002 a0001c0002t0004 a0001c0002t0013 a0001c0002t0018 a0001c0004t0007 a0001c0004t0009 a0001c0007t0014 a0002c0003t0005 a0005c0009t0002	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 others(52): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0073 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0165 a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0043 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0124 a0001c0001t0003g0139 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0184 a0001c0001t0003g0245 a0001c0001t0006g0277 a0001c0001t0006g0290 a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0015g0041 a0001c0002t0002g0024 a0001c0002t0002g0044 a0001c0002t0002g0077 a0001c0002t0002g0103 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0125 a0001c0002t0002g0177 a0001c0002t0002g0187 a0001c0002t0002g0230 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0004g0275 a0001c0002t0004g0276 a0001c0002t0004g0278 a0001c0002t0004g0279 a0001c0002t0013g0148 a0001c0002t0018g0091 a0001c0004t0007g0013 a0001c0004t0007g0163 a0001c0004t0007g0229 a0001c0004t0009g0247 a0001c0007t0014g0169 a0002c0003t0005g0102 a0002c0003t0005g0243 a0005c0009t0002g0188	55	292	0.1884	-23	c.320 others(42): Show c.320+15283_320+15305delTTTTCCTCTTTTTTAAAAATTTT	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	1/8			chr5	TogoVar
REV1_chr2_99395477_99495017	99454550	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0277 a0002c0002t0001g0277	1	15	0.0667	-23	c.182 others(40): Show c.182-5069_182-5047delTTTTTTTTTTTTTTTTTTTTTTT	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	3/22			chr2	TogoVar
REV1_chr2_99395477_99495017	99486087	TGCATTCC others(16): Show TGCATTCCAGCTTGGGCAACAGAG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0055 a0003c0003t0001g0055	1	322	0.0031	-23	c.-11 others(40): Show c.-11+3707_-11+3729delCTCTGTTGCCCAAGCTGGAATGC	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	1/22			chr2	TogoVar
REXO5_chr16_20801527_20854665	20820524	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	367	0.0027	-23	c.476 others(40): Show c.476-1236_476-1214delATATATATATATATATATATTTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820526	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 NA18950.hp2 others(4): Show HG02109.hp1 HG03209.hp1 NA18950.hp2 NA18988.hp2 NA19002.hp1 NA19030.hp1 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0072 others(3): Show a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0176 a0001c0002t0001g0201	7	347	0.0202	-23	c.476 others(40): Show c.476-1234_476-1212delATATATATATATATATATTTTTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFESD_chr5_95641777_95663082	95644267	AACTAGCA others(16): Show AACTAGCAGCACACAGGTGCCTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG03209.hp2 HG00741.hp1 HG01243.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0032 a0001c0001t0009g0060 a0001c0001t0003g0032 a0001c0001t0009g0060	3	408	0.0074	-23	c.-26 others(34): Show c.-2685_-2663delACTAGCAGCACACAGGTGCCTTC	RFESD	ENSG00000175449.15	transcript	ENST00000380005.9	protein_coding		2509		chr5	TogoVar
RFESD_chr5_95641777_95663082	95662822	AGATGCAA others(16): Show AGATGCAAATTAAAACCACAATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01123.hp1 HG01515.hp1 HG00741.hp2 HG01123.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0093 a0001c0001t0001g0006 a0001c0001t0001g0093	3	408	0.0074	-23	c.65 others(34): Show c.6514_*6536delGATGCAAATTAAAACCACAATGT	RFESD	ENSG00000175449.15	transcript	ENST00000380005.9	protein_coding		4741		chr5	TogoVar
RFFL_chr17_35000990_35068707	35058746	GGGTGACA others(16): Show GGGTGACAGAGCGAGACTCTGTTT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0313 a0001c0001t0019g0313	1	370	0.0027	-23	c.-9+ others(38): Show c.-9+4807_-9+4829delAAACAGAGTCTCGCTCTGTCACC	RFFL	ENSG00000092871.17	transcript	ENST00000394597.7	protein_coding	1/6			chr17	TogoVar
RFLNA_chr12_124290093_124321024	124319774	AAGGATTG others(16): Show AAGGATTGCACTGTGTTATCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0217 a0001c0001t0008g0217	1	386	0.0026	-23	c.52 others(34): Show c.5250_*5272delAGGATTGCACTGTGTTATCAGAG	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		3751		chr12	TogoVar
RFTN1_chr3_16310845_16518699	16357113	TCAAAAAA others(16): Show TCAAAAAAAAAAAAAACAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03540.hp2 HG06807.hp1 HG03098.hp1 HG03540.hp2 HG06807.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0118 a0001c0001t0001g0225 a0007c0008t0001g0026 a0001c0001t0001g0118 a0001c0001t0001g0225 a0007c0008t0001g0026	3	266	0.0113	-23	c.114 others(40): Show c.1146+796_1146+818delTTTTTTTGTTTTTTTTTTTTTTG	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFX1_chr19_13956530_14011320	13976282	CCCAGAAG others(16): Show CCCAGAAGAACAAGTGGCAGGGAT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	278	0.0036	-23	c.929 others(40): Show c.929+1687_929+1709delATCCCTGCCACTTGTTCTTCTGG	RFX1	ENSG00000132005.9	transcript	ENST00000254325.9	protein_coding	8/20			chr19	TogoVar
RFX7_chr15_56082280_56248879	56134596	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTACTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0292 a0001c0003t0042g0292	1	136	0.0074	-23	c.401 others(40): Show c.401+8159_401+8181delAGAAAGTAAAAAAAAAAAAAAAA	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RGL1_chr1_183800120_183933532	183805966	CTTTTCTT others(16): Show CTTTTCTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02559.hp2 others(2): Show HG01891.hp1 HG02109.hp1 HG02559.hp2 HG02630.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003	a0001c0001t0002g0272 a0001c0001t0005g0269 a0001c0001t0005g0270 others(2): Show a0001c0001t0002g0272 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0002t0002g0271 a0001c0002t0003g0273	5	293	0.0171	-23	c.28- others(36): Show c.28-404_28-382delCTTTTTTTTTTTTTTTTTTTTTT	RGL1	ENSG00000143344.16	transcript	ENST00000360851.4	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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