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
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01516.hp2 HG01261.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0308 a0001c0001t0005g0325 a0001c0001t0005g0308 a0001c0001t0005g0325	2	56	0.0357	25	c.71- others(40): Show c.71-8462_71-8461insATATATATATATATATTTTTTTTTT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18995.hp2 NA18944.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0290 a0001c0001t0002g0267 a0001c0001t0002g0290	2	56	0.0357	25	c.71- others(40): Show c.71-8462_71-8461insATATATATATATATATATTTTTTTT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19079.hp1 HG02257.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0275 a0001c0001t0005g0320 a0001c0001t0002g0275 a0001c0001t0005g0320	2	56	0.0357	25	c.71- others(40): Show c.71-8462_71-8461insATATATATATATATATATATTTTTT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG04228.hp2 HG03579.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0193 a0001c0001t0006g0128 a0001c0001t0001g0193 a0001c0001t0006g0128	2	56	0.0357	25	c.71- others(40): Show c.71-8462_71-8461insATATATATATATATATATATATTTT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	55	0.0182	25	c.71- others(40): Show c.71-8462_71-8461insATATATATATATATATATATATATT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19067.hp2 NA19007.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0104 a0001c0001t0001g0105	2	56	0.0357	25	c.71- others(40): Show c.71-8462_71-8461insATATATATATATATATATATATATA		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01069.hp2 HG02129.hp1 others(2): Show HG00609.hp1 HG01069.hp2 HG02129.hp1 HG02293.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0214 others(2): Show a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0214 a0001c0001t0001g0238 a0001c0003t0001g0194	5	7	0.7143	25	c.53+ others(38): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTT		RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7A_chr3_128721183_128819798	128809936	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp1 HG02572.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0299 a0001c0001t0012g0062 a0001c0001t0001g0299 a0001c0001t0012g0062	2	41	0.0488	25	c.528 others(42): Show c.528+2271_528+2295dupTTTTTTTTTTTTTTTTTTTTTTTTT		RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
RABGAP1L_chr1_174154520_175000308	174364243	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0213 a0001c0001t0007g0213	1	91	0.0110	25	c.146 others(44): Show c.1466-6731_1466-6707dupTTTTTTTTTTTTTTTTTTTTTTTTT		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174707218	C C	CTGTTTTG others(18): Show CTGTTTTGTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	174	0.0057	25	c.216 others(44): Show c.2169+4974_2169+4998dupGTTTTGTTTTGTTTTGTTTTGTTTT		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	17/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(18): Show ATATATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	95	0.0105	25	c.234 others(46): Show c.2340+21508_2340+21509insTATATATATATATATATATACATT A		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01261.hp2 HG02622.hp2 others(2): Show HG01192.hp1 HG01261.hp2 HG02622.hp2 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0024	a0001c0001t0008g0100 a0001c0001t0010g0211 a0001c0001t0010g0222 others(2): Show a0001c0001t0008g0100 a0001c0001t0010g0211 a0001c0001t0010g0222 a0001c0001t0011g0215 a0001c0001t0024g0186	5	99	0.0505	25	c.234 others(46): Show c.2340+21508_2340+21509insTATATATATATATATATATATATT A		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1_chr9_122936020_123109866	123077610	C C	CATTGTAT others(18): Show CATTGTATTGTATTGTATTGTATTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	40	0.0250	25	c.242 others(42): Show c.2424+907_2424+931dupGTATTGTATTGTATTGTATTGTATT		RABGAP1	ENSG00000011454.18	transcript	ENST00000373647.9	protein_coding	19/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
RACGAP1_chr12_49984162_50030494	49991479	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	152	0.0066	25	c.171 others(42): Show c.1714+518_1714+519insATATATATATATATATATATATATA		RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16						chr12	TogoVar
RACK1_chr5_181231897_181248906	181241426	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0086 a0001c0001t0005g0086	1	273	0.0037	25	c.429 others(38): Show c.429+65_429+66insTTTTTTTTTTTTTTTTTTTTTTTTT		RACK1	ENSG00000204628.12	transcript	ENST00000512805.6	protein_coding	3/7						chr5	TogoVar
RAD51B_chr14_67814779_68483093	68037096	T T	TCCCTCCC others(18): Show TCCCTCCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp2 HG02735.hp2 others(1): Show HG01175.hp1 HG01192.hp2 HG02735.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0074 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0011	4	66	0.0606	25	c.756 others(46): Show c.756+149916_756+149917insCCCCTCCCCTCCCCTCCCCTCCCC T		RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51B_chr14_67814779_68483093	68272665	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	59	0.0169	25	c.757 others(44): Show c.757-19205_757-19181dupTTTTTTTTTTTTTTTTTTTTTTTTT		RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51B_chr14_67814779_68483093	68331367	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	43	0.0233	25	c.853 others(44): Show c.853+39405_853+39406insAAAAAAAAAAAAAAAAAAAAAAAAA		RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(18): Show AGGGGGAAGGGAGGGGGTGGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG01069.hp2 others(42): Show HG00408.hp1 HG00423.hp1 HG01069.hp2 HG01081.hp2 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01515.hp2 HG01993.hp2 HG02004.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp2 HG02300.hp1 HG02735.hp2 HG03490.hp2 HG03491.hp2 HG04228.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18959.hp2 NA18963.hp1 NA18965.hp1 NA18969.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18986.hp2 NA18990.hp1 NA19004.hp2 NA19010.hp1 NA19055.hp1 NA19060.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0043 others(6): Show a0001c0001t0002 a0001c0001t0024 a0001c0001t0043 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 others(28): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0024g0200 a0001c0001t0024g0206 a0001c0001t0043g0070 a0001c0001t0053g0196 a0001c0001t0054g0207 a0001c0001t0055g0309 a0001c0001t0056g0213 a0001c0001t0057g0205 a0001c0001t0058g0195	45	56	0.8036	25	c.-34 others(36): Show c.-3413_-3412insCTCCCCCCACCCCCTCCCTTCCCCC		RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding					3302		chr12	TogoVar
RAD54L2_chr3_51533719_51673660	51626436	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0092 a0001c0001t0063g0092	1	25	0.0400	25	c.140 others(42): Show c.140-1115_140-1091dupTTTTTTTTTTTTTTTTTTTTTTTTT		RAD54L2	ENSG00000164080.14	transcript	ENST00000684192.1	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
RAD9B_chr12_110497331_110538556	110507468	T T	TATATATG others(18): Show TATATATGTATTAAATATAATACATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01433.hp2 HG01358.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0092 a0001c0001t0001g0044 a0001c0001t0001g0092	2	46	0.0435	25	c.388 others(40): Show c.388+844_388+868dupATACATAATATATGTATTAAATATA		RAD9B	ENSG00000151164.19	transcript	ENST00000409300.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
RAE1_chr20_57346255_57384202	57350857	C C	CGGGGGAC others(18): Show CGGGGGACGGGGGGCGGGGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	209	0.0048	25	c.-57 others(34): Show c.-573_-572insGGGGGACGGGGGGCGGGGGGGGGCG		RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding					397		chr20	TogoVar
RAI1_chr17_17676458_17816453	17808414	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	172	0.0058	25	c.566 others(42): Show c.5660-954_5660-930dupTATTTTATTTTATTTTATTTTATTT		RAI1	ENSG00000108557.20	transcript	ENST00000353383.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
RALBP1_chr18_9470513_9543114	9471570	A A	AATATATG others(18): Show AATATATGATATATCACATATATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03516.hp1 NA18906.hp1 HG02451.hp1 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0012 a0001c0001t0014	a0001c0001t0012g0014 a0001c0001t0014g0040 a0001c0001t0012g0014 a0001c0001t0014g0040	3	280	0.0107	25	c.-41 others(36): Show c.-4177_-4176insATATATGATATATCACATATATGAT		RALBP1	ENSG00000017797.13	transcript	ENST00000383432.8	protein_coding					3942		chr18	TogoVar
RALGAPA1_chr14_35533356_35814295	35541040	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0240 a0001c0003t0001g0240	1	74	0.0135	25	c.24 others(42): Show c.24-1351_*24-1350insAAAAAAAAAAAAAAAAAAAAAAAAA		RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding	41/41						chr14	TogoVar
RALGAPA1_chr14_35533356_35814295	35811776	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0019 a0002c0001t0001g0019	1	91	0.0110	25	c.-29 others(36): Show c.-2942_-2941insATATATATATATATATATATATATT		RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding					2482		chr14	TogoVar
RALGPS1_chr9_126909782_127228166	126958140	A A	ATAAATAA others(18): Show ATAAATAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0010 a0001c0001t0021g0010	1	251	0.0040	25	c.-65 others(42): Show c.-65-4085_-65-4084insTAAATAAATATATATATATATATAT		RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	1/18						chr9	TogoVar
RALGPS1_chr9_126909782_127228166	126958142	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0089 a0002c0002t0004g0089	1	108	0.0093	25	c.-65 others(42): Show c.-65-4082_-65-4081insAAAAATATATATATATATATATATA		RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
RALGPS1_chr9_126909782_127228166	127188832	T T	TTAAAAAA others(18): Show TTAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01070.hp2 others(10): Show HG00140.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01255.hp1 HG01433.hp2 HG01934.hp1 HG01975.hp2 HG03491.hp2 HG03927.hp2 NA19057.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0174 others(10): Show a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0224 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0273	13	113	0.1150	25	c.911 others(42): Show c.911-6259_911-6258insTAAAAAAAAAAAAAAAAAAAAAAAA		RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18						chr9	TogoVar
RALGPS1_chr9_126909782_127228166	127225795	T T	TCCGCGGG others(18): Show TCCGCGGGCCCGGCTCGCCCTGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	9	0.1111	25	c.70 others(36): Show c.7026_*7027insCCGCGGGCCCGGCTCGCCCTGGCGC		RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding					2630		chr9	TogoVar
RALGPS1_chr9_126909782_127228166	127225801	G G	GCCCGGCT others(18): Show GCCCGGCTCGCCCTGGCGCCCGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	273	0.0037	25	c.70 others(36): Show c.7032_*7033insCCCGGCTCGCCCTGGCGCCCGCGGC		RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding					2636		chr9	TogoVar
RALYL_chr8_84178274_84926844	84223209	C C	CTCCCTTC others(18): Show CTCCCTTCCCTTCCCTTCCCTTCCCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA21309.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0002g0080 a0001c0001t0001g0075 a0001c0001t0002g0080	2	31	0.0645	25	c.-24 others(44): Show c.-24+38799_-24+38823dupCTTCCCTTCCCTTCCCTTCCCTTCC		RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84288534	T T	TATCTTTT others(18): Show TATCTTTTTTCTGCATTTTTAGTTGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	82	0.0122	25	c.-24 others(46): Show c.-24+104138_-24+104162dupCTTTTTTCTGCATTTTTAGTTGCA T		RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84331717	A A	AAAGCAGG others(18): Show AAAGCAGGTCAGTATATAATTGTCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp2 HG01884.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0058 a0001c0001t0006g0011 a0001c0001t0003g0058 a0001c0001t0006g0011	2	82	0.0244	25	c.-24 others(46): Show c.-24+147295_-24+147319dupAGCAGGTCAGTATATAATTGTCTT A		RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84372886	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	9	0.1111	25	c.-23 others(46): Show c.-23-156408_-23-156384dupTTTTTTTTTTTTTTTTTTTTTTTT T		RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84535602	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	14	0.0714	25	c.256 others(42): Show c.256+6043_256+6067dupATTTTATTTTATTTTATTTTATTTT		RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RANBP10_chr16_67718070_67811560	67785731	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01934.hp2 others(11): Show HG00639.hp2 HG00738.hp1 HG01934.hp2 HG02055.hp2 HG02071.hp2 HG02615.hp1 HG02622.hp1 HG02886.hp1 HG02895.hp2 HG03486.hp1 HG03491.hp2 HG03579.hp2 NA18995.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 others(11): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0011g0033	14	74	0.1892	25	c.348 others(44): Show c.348-13646_348-13645insTTTTTTTTTTTTTTTTTTTTTTTTT		RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13						chr16	TogoVar
RANBP17_chr5_170857018_171305015	171277668	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	185	0.0054	25	c.294 others(46): Show c.2943+11821_2943+11822insATATATATATATATATATATATAT A		RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	25/27						chr5	TogoVar
RANBP3_chr19_5911139_5983140	5937056	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp2 HG03130.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0185 a0001c0001t0001g0122 a0001c0001t0001g0185	2	47	0.0426	25	c.407 others(42): Show c.407-3602_407-3578dupTTTTTTTTTTTTTTTTTTTTTTTTT		RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding	5/16						chr19	TogoVar
RANBP9_chr6_13616498_13716835	13666600	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0356 a0001c0002t0004g0356	1	45	0.0222	25	c.684 others(42): Show c.684-7793_684-7769dupTTTTTTTTTTTTTTTTTTTTTTTTT		RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	2/13						chr6	TogoVar
RAP1A_chr1_111614789_111721691	111647934	C C	CGTTTAGT others(18): Show CGTTTAGTAACACTTTTAAGGTCTGT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0352 a0001c0001t0004g0352	1	378	0.0026	25	c.-28 others(44): Show c.-28+28004_-28+28028dupTAGTAACACTTTTAAGGTCTGTGTT		RAP1A	ENSG00000116473.15	transcript	ENST00000369709.4	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
RAP1GDS1_chr4_98256384_98448858	98443015	A A	ATTTTTTT others(18): Show ATTTTTTTTTCTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0175 a0001c0001t0025g0175	1	116	0.0086	25	c.90 others(34): Show c.907_*908insCTTTTTTTTTTTTTTTTTTTTTTTT		RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	15/15				908	INFO_REALIGN_3_PRIME	chr4	TogoVar
RAP2C_chrX_132198025_132224447	132218093	A A	ACCCACCC others(18): Show ACCCACCCCCCACCCCCACCCCCACC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0075 a0001c0001t0011g0075	1	233	0.0043	25	c.-63 others(41): Show c.-635-106_-635-82dupGGTGGGGGTGGGGGTGGGGGGTGGG		RAP2C	ENSG00000123728.10	transcript	ENST00000370874.2	protein_coding	2/5						chrX	TogoVar
RAPGEF1_chr9_131571775_131745076	131730697	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA20752.hp2 HG01993.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0006 a0001c0001t0021	a0001c0001t0006g0014 a0001c0001t0021g0019 a0001c0001t0006g0014 a0001c0001t0021g0019	2	3	0.6667	25	c.61+ others(40): Show c.61+9072_61+9073insTTTTTTTTTTTTTTTTTTTTTTTTT		RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	1/26						chr9	TogoVar
RAPGEF1_chr9_131571775_131745076	131739032	G G	GCAGGCTA others(18): Show GCAGGCTAATAAAGCCTGGGGCCCCA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0351 a0001c0002t0016g0351	1	366	0.0027	25	c.61+ others(38): Show c.61+713_61+737dupTGGGGCCCCAGGCTTTATTAGCCTG		RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	1/26						chr9	TogoVar
RAPGEF2_chr4_159098079_159365173	159342533	T T	TTTATTTT others(18): Show TTTATTTTATTTTATTTTATTTTATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01361.hp1 others(1): Show HG00642.hp2 HG00738.hp1 HG01361.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0062 a0001c0002t0001g0088 a0001c0002t0001g0142 others(1): Show a0001c0002t0001g0062 a0001c0002t0001g0088 a0001c0002t0001g0142 a0001c0002t0003g0189	4	184	0.0217	25	c.291 others(42): Show c.2919-427_2919-426insTTTATATTATTTTATTTTATTTTAT		RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	20/29					INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF2_chr4_159098079_159365173	159342538	T T	TTTATTTT others(18): Show TTTATTTTATTTTATTTTATTTTATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp1 HG02717.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0003 a0001c0001t0021 a0001c0002t0003	a0001c0001t0021g0102 a0001c0002t0003g0181 a0001c0001t0021g0102 a0001c0002t0003g0181	2	189	0.0106	25	c.291 others(42): Show c.2919-427_2919-426insTTTATTTTATATTATTTTATTTTAT		RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	20/29					INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF4_chr2_172730845_173057893	172897732	C C	CTATTTTA others(18): Show CTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00609.hp1 others(39): Show HG00099.hp1 HG00408.hp1 HG00609.hp1 HG00642.hp2 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01257.hp1 HG01261.hp2 HG01433.hp2 HG01884.hp1 HG01981.hp2 HG02015.hp1 HG02129.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02738.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03704.hp2 HG03927.hp2 NA18522.hp1 NA18950.hp2 NA18972.hp1 NA18977.hp2 NA19005.hp1 NA19007.hp2 NA19056.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0018 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 a0001c0008t0002 a0001c0018t0001 a0003c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 others(39): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0003g0170 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0164 a0001c0002t0002g0022 a0001c0007t0001g0118 a0001c0008t0002g0028 a0001c0018t0001g0044 a0003c0004t0001g0112	42	44	0.9545	25	c.445 others(44): Show c.445-20059_445-20035dupTATTTTATTTTATTTTATTTTATTT		RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPGEFL1_chr17_40172470_40200650	40178094	A A	AGCCGCCC others(18): Show AGCCGCCCTGGAAAGGGGCGTGGAAG	frameshift_variant frameshift_variant	HIGH	NA18978.hp1 NA18978.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0170 a0006c0012t0001g0170	1	314	0.0032	25	c.240 others(32): Show c.240_241insTGGAAAGGGGCGTGGAAGGCCGCCC	p.Pro others(4): Show p.Pro81fs	RAPGEFL1	ENSG00000108352.13	transcript	ENST00000620260.6	protein_coding	1/15	633/4243	241/1989	81/662		INFO_REALIGN_3_PRIME	chr17	TogoVar
RARS1_chr5_168481471_168524301	168518071	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01993.hp2 HG02109.hp1 others(1): Show HG01884.hp1 HG01993.hp2 HG02109.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0170 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171	4	79	0.0506	25	c.187 others(40): Show c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTT		RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr5	TogoVar

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