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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RBM33_chr7_155639661_155786480	155786122	ATTTCCCT others(14): Show ATTTCCCTAATGGTTAGTGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0241 a0001c0002t0011g0241	1	306	0.0033	-21	c.11 others(34): Show c.11082_*11102delTTTCCCTAATGGTTAGTGAGG		RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding					4643		chr7	TogoVar
RBM47_chr4_40418280_40634864	40423692	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00621.hp1 others(14): Show HG00408.hp1 HG00597.hp2 HG00621.hp1 HG02083.hp1 HG02129.hp2 HG02572.hp2 HG03139.hp1 HG03516.hp2 HG06807.hp1 NA18747.hp2 NA18944.hp2 NA18964.hp2 NA18982.hp2 NA19011.hp2 NA19068.hp1 NA19070.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0002c0002 a0002c0018	a0001c0001t0003 a0001c0001t0014 a0001c0001t0028 others(7): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0028 a0001c0003t0014 a0001c0003t0028 a0001c0004t0003 a0001c0011t0003 a0002c0002t0014 a0002c0002t0094 a0002c0018t0134	a0001c0001t0003g0066 a0001c0001t0003g0177 a0001c0001t0003g0194 others(14): Show a0001c0001t0003g0066 a0001c0001t0003g0177 a0001c0001t0003g0194 a0001c0001t0003g0210 a0001c0001t0014g0214 a0001c0001t0028g0243 a0001c0001t0028g0265 a0001c0003t0014g0018 a0001c0003t0014g0164 a0001c0003t0028g0268 a0001c0004t0003g0027 a0001c0004t0003g0031 a0001c0004t0003g0086 a0001c0011t0003g0126 a0002c0002t0014g0168 a0002c0002t0094g0003 a0002c0018t0134g0224	17	278	0.0612	-21	c.21 others(32): Show c.2191_*2211delAGAAAGAAAGAAAGAAAGAAA		RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	7/7				2191		chr4	TogoVar
RBM47_chr4_40418280_40634864	40423704	CTTTCTTT others(14): Show CTTTCTTTCTTTTCTTTCTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0088 a0002c0007t0088	a0002c0007t0088g0217 a0002c0007t0088g0217	1	278	0.0036	-21	c.21 others(32): Show c.2179_*2199delAAAAGAAAGAAAAGAAAGAAA		RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	7/7				2179		chr4	TogoVar
RBM47_chr4_40418280_40634864	40432687	AGCGGCTG others(14): Show AGCGGCTGCGGCGGCTGCGGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0075 a0003c0020t0075	a0003c0020t0075g0135 a0003c0020t0075g0135	1	278	0.0036	-21	c.148 others(30): Show c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	p.Ala others(13): Show p.Ala496_Ala502del	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	6/7	2213/5114	1485/1782	495/593			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437138	CATATATA others(14): Show CATATATATATATAAAATACAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02486.hp2 HG02647.hp1 others(3): Show HG00735.hp1 HG02486.hp2 HG02647.hp1 HG03130.hp1 HG03486.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0080 a0002c0007t0025 a0002c0007t0071 others(3): Show a0001c0004t0080 a0002c0007t0025 a0002c0007t0071 a0002c0007t0072 a0002c0007t0073 a0002c0007t0122	a0001c0004t0080g0137 a0002c0007t0025g0130 a0002c0007t0071g0075 others(3): Show a0001c0004t0080g0137 a0002c0007t0025g0130 a0002c0007t0071g0075 a0002c0007t0072g0074 a0002c0007t0073g0072 a0002c0007t0122g0232	6	278	0.0216	-21	c.112 others(38): Show c.1124-512_1124-492delATGTATTTTATATATATATAT		RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6						chr4	TogoVar
RBM47_chr4_40418280_40634864	40592959	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0015 a0001c0001t0086g0015	1	278	0.0036	-21	c.-24 others(42): Show c.-240+36416_-240+36436delATATATATATATATATATATA		RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6						chr4	TogoVar
RBMS1_chr2_160267151_160498807	160493444	CCGGCGGC others(14): Show CCGGCGGCGGCGGCAGCGGCGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0283 a0001c0001t0029g0283	1	328	0.0031	-21	c.-10 others(29): Show c.-102_-82delCCGCCGCTGCCGCCGCCGCCG		RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/14				82		chr2	TogoVar
RBMS2_chr12_56516820_56601193	56597616	CACACAGC others(14): Show CACACAGCGCGCTCTGAGGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0204 a0001c0002t0011g0204	1	280	0.0036	-21	c.84 others(32): Show c.8484_*8504delACACAGCGCGCTCTGAGGCCG		RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding					1424		chr12	TogoVar
RBMS3_chr3_29276071_30015386	29820188	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp2 HG01981.hp1 others(3): Show HG01928.hp1 HG01928.hp2 HG01981.hp1 HG02630.hp1 HG03831.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 others(3): Show a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0035 a0001c0001t0072 a0001c0001t0079	a0001c0001t0016g0064 a0001c0001t0018g0061 a0001c0001t0020g0112 others(3): Show a0001c0001t0016g0064 a0001c0001t0018g0061 a0001c0001t0020g0112 a0001c0001t0035g0105 a0001c0001t0072g0073 a0001c0001t0079g0111	6	116	0.0517	-21	c.638 others(40): Show c.638-48636_638-48616delAAAAAAAAAAAAAAAAAAAAA		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29972802	TGGCTAAA others(14): Show TGGCTAAAGCATCTTTACCAAG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp1 HG03579.hp1 HG03041.hp1 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0056 a0001c0001t0076 a0001c0001t0051 a0001c0001t0056 a0001c0001t0076	a0001c0001t0051g0084 a0001c0001t0056g0026 a0001c0001t0076g0088 a0001c0001t0051g0084 a0001c0001t0056g0026 a0001c0001t0076g0088	3	116	0.0259	-21	c.109 others(42): Show c.1099-15340_1099-15320delGGCTAAAGCATCTTTACCAAG		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14						chr3	TogoVar
RBMX2_chrX_130396987_130418656	130405833	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	305	0.0033	-21	c.173 others(38): Show c.173+1999_173+2019delTTTTTTTTTTTTTTTTTTTTT		RBMX2	ENSG00000134597.17	transcript	ENST00000305536.11	protein_coding	3/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
RBPMS_chr8_30379541_30577256	30487737	TTAGTGAA others(14): Show TTAGTGAACATTATTAGACTAA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02970.hp1 HG02818.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0221 a0001c0001t0002g0133 a0001c0001t0001g0221 a0001c0001t0002g0133	2	304	0.0066	-21	c.246 others(38): Show c.246+8362_246+8382delAGTGAACATTATTAGACTAAT		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30511479	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18945.hp1 NA18981.hp1 HG01433.hp1 NA18945.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0027 a0001c0001t0001 a0001c0001t0003 a0001c0001t0027	a0001c0001t0001g0018 a0001c0001t0003g0072 a0001c0001t0027g0089 a0001c0001t0001g0018 a0001c0001t0003g0072 a0001c0001t0027g0089	3	304	0.0099	-21	c.397 others(38): Show c.397+7045_397+7065delAAAAAAATATATATATATATA		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30511483	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03225.hp1 HG00738.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0302 a0001c0001t0010g0258 a0001c0001t0002g0302 a0001c0001t0010g0258	2	304	0.0066	-21	c.397 others(38): Show c.397+7049_397+7069delAAATATATATATATATATATA		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30511485	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18906.hp1 HG02572.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0025 a0001c0001t0005 a0001c0001t0025	a0001c0001t0005g0295 a0001c0001t0025g0239 a0001c0001t0005g0295 a0001c0001t0025g0239	2	304	0.0066	-21	c.397 others(38): Show c.397+7051_397+7071delATATATATATATATATATATA		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30519458	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02451.hp2 others(16): Show HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG04184.hp1 HG04204.hp2 NA18942.hp2 NA18961.hp2 NA19054.hp2 NA19081.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0004g0141 a0001c0001t0007g0020 a0001c0001t0007g0055 a0001c0001t0007g0189 a0001c0001t0008g0097 a0001c0001t0008g0115 a0001c0001t0008g0120 a0001c0001t0008g0121 a0001c0001t0008g0297 a0001c0001t0010g0269 a0001c0001t0010g0270	19	304	0.0625	-21	c.397 others(40): Show c.397+15044_397+15064delTTTTTTTTTTTTTTTTTTTTT		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBSN_chr3_15065073_15104148	15078776	ATACATAT others(14): Show ATACATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG01069.hp1 others(8): Show HG00609.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp1 HG02071.hp1 NA18998.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 others(8): Show a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0200 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0223	11	360	0.0306	-21	c.912 others(36): Show c.912-636_912-616delATATATATATATATATATGTA		RBSN	ENSG00000131381.12	transcript	ENST00000253699.7	protein_coding	10/13						chr3	TogoVar
RC3H2_chr9_122839556_122910359	122868875	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTATGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01346.hp2 HG01891.hp2 others(5): Show HG00099.hp2 HG01346.hp2 HG01891.hp2 HG01934.hp2 HG02809.hp2 HG03704.hp1 HG03704.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0201 a0001c0001t0001g0233 a0001c0001t0001g0234 others(5): Show a0001c0001t0001g0201 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0003g0254 a0001c0001t0009g0198	8	320	0.0250	-21	c.132 others(40): Show c.1326-3239_1326-3219delACACATACACACACACACACA		RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20						chr9	TogoVar
RCAN1_chr21_34511442_34620113	34574986	CGCATGGC others(14): Show CGCATGGCTGATGGAGGCAGAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01943.hp1 HG01978.hp1 others(3): Show HG01346.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0277 a0001c0002t0001g0268 a0001c0002t0001g0270 others(3): Show a0001c0001t0001g0277 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0284	6	378	0.0159	-21	c.252 others(40): Show c.252+39753_252+39773delTTCTGCCTCCATCAGCCATGC		RCAN1	ENSG00000159200.18	transcript	ENST00000313806.9	protein_coding	1/3						chr21	TogoVar
RCAN2_chr6_46215736_46496449	46217175	CACTCTGA others(14): Show CACTCTGAAGTGGGGAGCTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00642.hp2 others(22): Show HG00438.hp1 HG00544.hp1 HG00642.hp2 HG01081.hp2 HG01106.hp2 HG01169.hp1 HG01243.hp1 HG01358.hp2 HG01515.hp2 HG02015.hp2 HG02451.hp2 HG02630.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03491.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG06807.hp2 NA19002.hp2 NA19011.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018	a0001c0001t0001g0115 a0001c0001t0003g0042 a0001c0001t0003g0046 others(22): Show a0001c0001t0001g0115 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0060 a0001c0001t0003g0071 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0096 a0001c0001t0003g0103 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0005g0093 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0008g0020 a0001c0001t0008g0030 a0001c0001t0018g0152	25	158	0.1582	-21	c.59 others(32): Show c.5945_*5965delCCCAGCTCCCCACTTCAGAGT		RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding					3560		chr6	TogoVar
RCAN3_chr1_24497836_24546040	24500461	TCCGGCCA others(14): Show TCCGGCCATGCCTGAAGCCCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0016 a0006c0012t0016	a0006c0012t0016g0145 a0006c0012t0016g0145	1	332	0.0030	-21	c.-27 others(32): Show c.-2748_-2728delCCGGCCATGCCTGAAGCCCCA		RCAN3	ENSG00000117602.13	transcript	ENST00000374395.9	protein_coding					2374		chr1	TogoVar
RCC1_chr1_28501043_28543989	28518100	TGGCCAAG others(14): Show TGGCCAAGGGCTCCCCCAGCCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02572.hp2 HG03098.hp1 others(2): Show HG01069.hp1 HG02572.hp2 HG03098.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0081 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0081 a0001c0001t0001g0112 a0001c0001t0001g0113	5	294	0.0170	-21	c.-10 others(38): Show c.-10+1257_-10+1277delCCAAGGGCTCCCCCAGCCCGG		RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
RCC2_chr1_17401760_17444677	17437753	ACGGCCGC others(14): Show ACGGCCGCTCCCCGCAGAGCGC	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0306 a0001c0001t0003g0306	1	390	0.0026	-21	c.285 others(36): Show c.285+456_285+476delGCGCTCTGCGGGGAGCGGCCG		RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12						chr1	TogoVar
RCCD1_chr15_90949884_90968125	90964822	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA19054.hp2 HG03139.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0063 a0001c0003t0002g0004 a0001c0001t0002g0063 a0001c0003t0002g0004	2	432	0.0046	-21	c.30 others(32): Show c.3054_*3074delAAAAAAAAAAAAAAAAAAAAA		RCCD1	ENSG00000166965.13	transcript	ENST00000394258.7	protein_coding					1698		chr15	TogoVar
RCHY1_chr4_75474033_75519403	75497578	ATTAAACT others(14): Show ATTAAACTCTGTTAAGTTTAAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01943.hp1 HG02886.hp1 others(3): Show HG00544.hp2 HG01943.hp1 HG02886.hp1 HG03579.hp2 NA18522.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0022	a0001c0001t0001g0201 a0001c0001t0002g0218 a0001c0001t0002g0227 others(3): Show a0001c0001t0001g0201 a0001c0001t0002g0218 a0001c0001t0002g0227 a0001c0001t0003g0135 a0001c0001t0005g0148 a0001c0001t0022g0137	6	406	0.0148	-21	c.327 others(38): Show c.327-3420_327-3400delATTAAACTTAACAGAGTTTAA		RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	3/8						chr4	TogoVar
RCN2_chr15_76926749_76959393	76953570	TATATATA others(14): Show TATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp2 NA18963.hp2 NA19062.hp2 NA18961.hp2 NA18963.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0102 a0001c0001t0044 a0001c0001t0102	a0001c0001t0044g0016 a0001c0001t0044g0053 a0001c0001t0102g0002 a0001c0001t0044g0016 a0001c0001t0044g0053 a0001c0001t0102g0002	3	422	0.0071	-21	c.43 others(32): Show c.4349_*4369delATATATATATATATATATATA		RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding	7/7				4349		chr15	TogoVar
RCN2_chr15_76926749_76959393	76953573	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp2 HG02647.hp2 HG02129.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0148 a0001c0001t0180 a0001c0001t0148 a0001c0001t0180	a0001c0001t0148g0003 a0001c0001t0180g0057 a0001c0001t0148g0003 a0001c0001t0180g0057	2	422	0.0047	-21	c.43 others(32): Show c.4353_*4373delATATATATATATATATATATT		RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding	7/7				4353	INFO_REALIGN_3_PRIME	chr15	TogoVar
RCN2_chr15_76926749_76959393	76953575	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG03225.hp2 others(2): Show HG02723.hp2 HG02895.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0057 a0001c0001t0007g0160 a0001c0001t0007g0032 a0001c0001t0007g0057 a0001c0001t0007g0160	5	422	0.0119	-21	c.43 others(32): Show c.4355_*4375delATATATATATATATATATTTT		RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding	7/7				4355	INFO_REALIGN_3_PRIME	chr15	TogoVar
RCN3_chr19_49523003_49548633	49524357	TCTGTCAC others(14): Show TCTGTCACCTAGGAAGTGCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	380	0.0026	-21	c.-37 others(32): Show c.-3707_-3687delCTGTCACCTAGGAAGTGCCTC		RCN3	ENSG00000142552.8	transcript	ENST00000270645.8	protein_coding					3645		chr19	TogoVar
RCOR1_chr14_102587649_102735561	102632659	CTTTCCTT others(14): Show CTTTCCTTTCCTTTCCTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02895.hp2 HG02896.hp2 others(3): Show HG01099.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0021 a0001c0001t0022 others(1): Show a0001c0001t0008 a0001c0001t0021 a0001c0001t0022 a0001c0001t0049	a0001c0001t0008g0268 a0001c0001t0008g0269 a0001c0001t0008g0276 others(3): Show a0001c0001t0008g0268 a0001c0001t0008g0269 a0001c0001t0008g0276 a0001c0001t0021g0279 a0001c0001t0022g0262 a0001c0001t0049g0159	6	292	0.0206	-21	c.361 others(40): Show c.361+39343_361+39363delCCTTTCCTTTCCTTTTCCTTT		RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102653962	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG04184.hp2 HG02080.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0042 a0001c0001t0035 a0001c0001t0042	a0001c0001t0035g0251 a0001c0001t0042g0228 a0001c0001t0035g0251 a0001c0001t0042g0228	2	292	0.0069	-21	c.362 others(40): Show c.362-27932_362-27912delCTTTCTTTCTTTCTTTCTTTC		RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11						chr14	TogoVar
RDH10_chr8_73289602_73330281	73325951	GGGTGTGT others(14): Show GGGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 NA19000.hp1 HG02523.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0108 a0001c0001t0003g0162 a0001c0001t0001g0108 a0001c0001t0003g0162	2	396	0.0051	-21	c.29 others(32): Show c.2916_*2936delGGTGTGTGTGTGTGTGTGTGT		RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding					671		chr8	TogoVar
RECK_chr9_36031913_36129455	36092310	TATAAAAG others(14): Show TATAAAAGAACAATTGTTTTGA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0294 a0003c0006t0001g0294	1	392	0.0026	-21	c.108 others(38): Show c.1085+969_1085+989delTAAAAGAACAATTGTTTTGAA		RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	10/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36104310	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0388 a0003c0006t0003g0388	1	392	0.0026	-21	c.143 others(38): Show c.1436-831_1436-811delATATATATATATATATTTTTT		RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36104312	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0390 a0003c0006t0003g0390	1	392	0.0026	-21	c.143 others(38): Show c.1436-829_1436-809delATATATATATATATTTTTTTT		RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
REEP5_chr5_112871385_112927227	112922322	CCGGCCGC others(14): Show CCGGCCGCCGCGCGCCCCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03195.hp2 NA18522.hp2 others(2): Show HG03041.hp2 HG03195.hp2 NA18522.hp2 NA18955.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0023 a0001c0001t0037 a0001c0001t0015 a0001c0001t0023 a0001c0001t0037	a0001c0001t0015g0043 a0001c0001t0015g0078 a0001c0001t0023g0014 others(2): Show a0001c0001t0015g0043 a0001c0001t0015g0078 a0001c0001t0023g0014 a0001c0001t0023g0017 a0001c0001t0037g0016	5	340	0.0147	-21	c.-15 others(30): Show c.-153_-133delAGGAGGGGCGCGCGGCGGCCG		REEP5	ENSG00000129625.13	transcript	ENST00000379638.9	protein_coding					96		chr5	TogoVar
RELN_chr7_103466789_103994658	103677405	TATAATAA others(14): Show TATAATAATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03453.hp2 HG02896.hp1 HG03453.hp2	a0001 a0021 a0001 a0021	a0001c0005 a0021c0083 a0001c0005 a0021c0083	a0001c0005t0002 a0021c0083t0014 a0001c0005t0002 a0021c0083t0014	a0001c0005t0002g0032 a0021c0083t0014g0152 a0001c0005t0002g0032 a0021c0083t0014g0152	2	184	0.0109	-21	c.128 others(40): Show c.1289+4690_1289+4710delTATTATTATTATTATTATTAT		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	11/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103759990	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	184	0.0054	-21	c.545 others(38): Show c.545-6797_545-6777delAAAAAAAAAAAAAAAAAAAAA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	4/64						chr7	TogoVar
REM2_chr14_22878222_22892678	22888447	TAAGATGA others(14): Show TAAGATGAATAATGGCCCTATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	392	0.0026	-21	c.15 others(32): Show c.1539_*1559delAAGATGAATAATGGCCCTATC		REM2	ENSG00000139890.10	transcript	ENST00000267396.9	protein_coding					770		chr14	TogoVar
RENBP_chrX_153930269_153949643	153938533	ACCACTGG others(14): Show ACCACTGGGTGCCATGCCCTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01243.hp1 others(15): Show HG00642.hp1 HG00673.hp1 HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02615.hp1 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG03041.hp2 HG03139.hp1 HG03486.hp1 NA18612.hp1 NA19066.hp1 NA19077.hp1	a0001 a0009 a0021 a0001 a0009 a0021	a0001c0001 a0009c0009 a0021c0012 a0001c0001 a0009c0009 a0021c0012	a0001c0001t0001 a0009c0009t0001 a0021c0012t0001 a0001c0001t0001 a0009c0009t0001 a0021c0012t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 others(11): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0059 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0097 a0009c0009t0001g0038 a0009c0009t0001g0182 a0009c0009t0001g0183 a0021c0012t0001g0169	18	297	0.0606	-21	c.107 others(40): Show c.1077+1548_1077+1568delAAAGGGCATGGCACCCAGTGG		RENBP	ENSG00000102032.13	transcript	ENST00000393700.8	protein_coding	9/10						chrX	TogoVar
RERG_chr12_15102783_15226417	15161137	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	300	0.0033	-21	c.62- others(38): Show c.62-40039_62-40019delCTTTCTTTCTTTCTTTCTTTT		RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4						chr12	TogoVar
RETREG3_chr17_42574515_42614374	42597607	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19087.hp2 NA19004.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0299 a0001c0001t0002g0208 a0001c0001t0002g0299	2	360	0.0056	-21	c.240 others(38): Show c.240-5466_240-5446delAAAAAAAAATATATATATATA		RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8						chr17	TogoVar
RETREG3_chr17_42574515_42614374	42597609	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02630.hp1 HG03516.hp1 others(1): Show HG01081.hp1 HG02630.hp1 HG03516.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0212 a0001c0001t0003g0286 a0001c0001t0003g0320 others(1): Show a0001c0001t0003g0212 a0001c0001t0003g0286 a0001c0001t0003g0320 a0001c0001t0013g0296	4	360	0.0111	-21	c.240 others(38): Show c.240-5468_240-5448delAAAAAAAAAAATATATATATA		RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8						chr17	TogoVar
RETREG3_chr17_42574515_42614374	42597611	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02559.hp2 HG02622.hp1 others(4): Show HG01993.hp1 HG02559.hp2 HG02622.hp1 HG02965.hp2 HG03225.hp1 HG03704.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0168 a0001c0001t0003g0169 others(3): Show a0001c0001t0003g0010 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0003g0177 a0001c0001t0003g0195	7	360	0.0194	-21	c.240 others(38): Show c.240-5470_240-5450delAAAAAAAAAAAAATATATATA		RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8						chr17	TogoVar
REV3L_chr6_111294033_111488218	111303680	TTTTTTTT others(14): Show TTTTTTTTTAACAGACTATGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01975.hp2 others(2): Show HG00099.hp1 HG01074.hp1 HG01975.hp2 HG02004.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0179 a0002c0002t0001g0197 others(2): Show a0002c0002t0001g0153 a0002c0002t0001g0179 a0002c0002t0001g0197 a0002c0002t0001g0204 a0002c0002t0001g0241	5	288	0.0174	-21	c.925 others(40): Show c.9253-3545_9253-3525delGTCATAGTCTGTTAAAAAAAA		REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31						chr6	TogoVar
REV3L_chr6_111294033_111488218	111303701	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0126 a0011c0014t0001g0126	1	288	0.0035	-21	c.925 others(40): Show c.9253-3566_9253-3546delAAAAAAAAAAAAAAAAAAAAA		REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31						chr6	TogoVar
REV3L_chr6_111294033_111488218	111338312	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0140 a0009c0010t0001g0140	1	288	0.0035	-21	c.753 others(40): Show c.7539-2723_7539-2703delAAAAAAAAAAAAAAAAAAAAA		REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	21/31						chr6	TogoVar
REV3L_chr6_111294033_111488218	111362923	GCTGCTAG others(14): Show GCTGCTAGCGGCTACCATACGA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	288	0.0035	-21	c.687 others(38): Show c.6879+909_6879+929delTCGTATGGTAGCCGCTAGCAG		REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	16/31						chr6	TogoVar
REXO5_chr16_20801527_20854665	20820524	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03453.hp2 HG02486.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0249 a0001c0002t0001g0052 a0001c0002t0001g0249	2	372	0.0054	-21	c.476 others(38): Show c.476-1236_476-1216delATATATATATATATATATATT		REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820526	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03669.hp1 HG03831.hp1 others(3): Show HG02040.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp1 NA18747.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0239 a0001c0002t0001g0049 a0001c0002t0001g0051 others(3): Show a0001c0001t0001g0239 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0240 a0001c0002t0001g0246 a0001c0002t0001g0247	6	372	0.0161	-21	c.476 others(38): Show c.476-1234_476-1214delATATATATATATATATATTTT		REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr16	TogoVar

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