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
RBPMS_chr8_30379541_30577256	30518687	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0295 a0001c0001t0005g0295	1	16	0.0625	32	c.397 others(51): Show c.397+14279_397+14280insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30549793	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19054.hp2 NA18942.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0188 a0001c0001t0008g0119 a0001c0001t0007g0188 a0001c0001t0008g0119	2	292	0.0068	32	c.528 others(49): Show c.528+5172_528+5173insTCTCTCTCTCTCTCTCTCTCTCTCTCTC CCTC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBX1_chr22_40946378_40978309	40961081	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	185	0.0054	32	c.158 others(49): Show c.158-2943_158-2942insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RBX1	ENSG00000100387.9	transcript	ENST00000216225.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
RC3H1_chr1_173926084_174027357	174017783	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0225 a0001c0001t0065g0225	1	59	0.0169	32	c.-15 others(51): Show c.-151+4312_-151+4313insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	1/19			chr1	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18971.hp1 HG01934.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0155 a0001c0001t0001g0088 a0001c0001t0001g0155	2	25	0.0800	32	c.225 others(51): Show c.225+89698_225+89729dupATATATATATATATATATATATATAT ATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCBTB1_chr13_49526946_49590558	49564583	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG04115.hp1 HG02257.hp1 HG04115.hp1	a0002 a0002	a0002c0007 a0002c0013 a0002c0007 a0002c0013	a0002c0007t0006 a0002c0013t0004 a0002c0007t0006 a0002c0013t0004	a0002c0007t0006g0150 a0002c0013t0004g0256 a0002c0007t0006g0150 a0002c0013t0004g0256	2	156	0.0128	32	c.277 others(49): Show c.277+2034_277+2035insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding	4/12			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48493313	A A	ACTCTCTC others(25): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18948.hp2 NA18943.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	197	0.0102	32	c.151 others(51): Show c.1515+2877_1515+2878insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48527329	A A	ATATATAT others(25): Show ATATATATGATATATATATATATGATATATATT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01928.hp2 HG01952.hp2 others(3): Show HG00642.hp2 HG01928.hp2 HG01952.hp2 HG02148.hp2 HG03942.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 others(3): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140	6	316	0.0190	32	c.-21 others(51): Show c.-218-2604_-218-2573dupAATATATATCATATATATATATATCA TATATA	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48527369	G G	GATATATA others(25): Show GATATATATATATGATATATATTTATATATGAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02109.hp2 HG02257.hp1 others(12): Show HG01074.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02965.hp2 HG03041.hp1 HG03579.hp1 NA18906.hp2 NA18971.hp1 NA18977.hp1 NA18998.hp2 NA19068.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0030 others(9): Show a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253	15	221	0.0679	32	c.-21 others(51): Show c.-218-2613_-218-2612insATCATATATAAATATATATCATATAT ATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48537219	T T	TCTTCCTA others(25): Show TCTTCCTAGTTTATATTTTTGAGGACAACTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	318	0.0031	32	c.-44 others(43): Show c.-4411_-4410insTTTAGTTGTCCTCAAAAATATAAACTAGGAAG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding		4140		chr13	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0243 a0001c0003t0002g0243	1	119	0.0084	32	c.52 others(43): Show c.5232_*5233insAAAAAAAAAAAAAAAAAAAAATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	119	0.0084	32	c.52 others(43): Show c.5232_*5233insAAAAATATATATATATATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01975.hp1 HG01123.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0164 a0001c0002t0002g0004 a0001c0002t0002g0164	2	145	0.0138	32	c.286 others(49): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487498	A A	AATATATA others(25): Show AATATATATATTCATAATATATATATTCATAAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	330	0.0030	32	c.657 others(49): Show c.657+3051_657+3082dupATTATGAATATATATATTATGAATATAT ATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCOR1_chr14_102587649_102735561	102706142	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	289	0.0035	32	c.499 others(49): Show c.499-1209_499-1208insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	4/11			chr14	TogoVar
RCSD1_chr1_167625232_167713696	167701252	G G	GTTTCTTT others(25): Show GTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0257 a0001c0001t0006g0257	1	101	0.0099	32	c.121 others(51): Show c.1219-3376_1219-3345dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18971.hp2 HG02080.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0247 a0001c0001t0003g0229 a0001c0001t0003g0247	2	94	0.0213	32	c.-65 others(49): Show c.-65+6510_-65+6511insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RECK_chr9_36031913_36129455	36048126	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19072.hp2 NA18989.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0316 a0001c0001t0001g0301 a0001c0001t0001g0316	2	35	0.0571	32	c.101 others(49): Show c.101-4136_101-4105dupATATATATATATATATATATATATATAT ATAT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
REEP6_chr19_1486181_1502927	1493708	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	3	0.3333	32	c.116 others(49): Show c.116-1562_116-1561insACACACACACACACACACACACACACAC ACAC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(25): Show TGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	65	0.0154	32	c.164 others(47): Show c.164-138_164-137insTGTGTGTGAGAGAGAGAGAGAGAGAGAGAG AG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELL1_chr4_37605634_37691376	37605793	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0146 a0001c0001t0032g0146	1	184	0.0054	32	c.75 others(43): Show c.7552_*7553insTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCT	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding		4840		chr4	TogoVar
RELN_chr7_103466789_103994658	103909746	T T	TATATATT others(25): Show TATATATTAAATATATATTTTTAATATATATAA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19091.hp2 NA19062.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0037 a0001c0003 a0001c0037	a0001c0003t0001 a0001c0037t0001 a0001c0003t0001 a0001c0037t0001	a0001c0003t0001g0105 a0001c0037t0001g0078 a0001c0003t0001g0105 a0001c0037t0001g0078	2	182	0.0110	32	c.337 others(49): Show c.337+7328_337+7329insTTATATATATTAAAAATATATATTTAAT ATAT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64			chr7	TogoVar
REM1_chr20_31470288_31489895	31471049	G G	GGGGGCTG others(25): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01123.hp1 HG01257.hp2 others(7): Show HG00323.hp2 HG01123.hp1 HG01257.hp2 HG01346.hp2 HG01433.hp2 HG02523.hp1 HG03139.hp2 HG04199.hp2 HG04204.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0032 others(2): Show a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034	10	341	0.0293	32	c.-45 others(43): Show c.-4537_-4536insGGGGCTGACCCCCCCACCTCCCTCCCGGACGT	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4238		chr20	TogoVar
REPS1_chr6_138898493_138993253	138947035	G G	GCTCTCTC others(25): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02280.hp2 HG01884.hp2 HG02257.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0301 a0001c0001t0001g0005 a0001c0001t0001g0301	3	73	0.0411	32	c.277 others(47): Show c.277+723_277+754dupAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	2/19			chr6	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	50	0.0200	32	c.908 others(49): Show c.908-2216_908-2185dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8401069	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03831.hp1 HG03669.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0001 a0001c0001t0003 a0001c0007t0001	a0001c0001t0003g0091 a0001c0007t0001g0007 a0001c0001t0003g0091 a0001c0007t0001g0007	2	114	0.0175	32	c.128 others(53): Show c.1284+21657_1284+21658insCATATATATATATATATATATATA TATATATA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8403825	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0007 a0007c0025t0007	a0007c0025t0007g0024 a0007c0025t0007g0024	1	29	0.0345	32	c.128 others(53): Show c.1284+18901_1284+18902insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GGAAAAAA others(25): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03225.hp2 HG03471.hp2 others(1): Show HG02818.hp2 HG03225.hp2 HG03471.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0005 a0001c0001t0006 a0001c0002t0005	a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0002t0005g0131 others(1): Show a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0002t0005g0131 a0001c0002t0005g0134	4	35	0.1143	32	c.831 others(49): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03831.hp1 HG00140.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0004 a0001c0007t0001 a0001c0003t0004 a0001c0007t0001	a0001c0003t0004g0016 a0001c0007t0001g0007 a0001c0003t0004g0016 a0001c0007t0001g0007	2	30	0.0667	32	c.523 others(49): Show c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8607534	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0025 a0001c0010t0007g0025	1	15	0.0667	32	c.522 others(49): Show c.522+7026_522+7027insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0003 a0002c0027t0003	a0002c0027t0003g0086 a0002c0027t0003g0086	1	40	0.0250	32	c.-14 others(53): Show c.-145+27858_-145+27859insATATATTTTTTTTTTTTTTTTTTT TTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	40	0.0250	32	c.-14 others(53): Show c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTTTTT TTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0097 a0002c0006t0003g0097	1	40	0.0250	32	c.-14 others(53): Show c.-145+27858_-145+27859insATATATATATATTTTTTTTTTTTT TTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	40	0.0250	32	c.-14 others(53): Show c.-145+27858_-145+27859insATATATATATATATATTTTTTTTT TTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01934.hp1 HG02015.hp1 others(5): Show HG00423.hp1 HG01934.hp1 HG02015.hp1 HG02056.hp1 HG02080.hp2 HG02818.hp2 HG03710.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0150 a0001c0001t0001g0179 a0001c0001t0001g0205 others(5): Show a0001c0001t0001g0150 a0001c0001t0001g0179 a0001c0001t0001g0205 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0003g0094 a0001c0002t0001g0144 a0001c0002t0001g0257	8	81	0.0988	32	c.62- others(49): Show c.62-40051_62-40020dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905326	A A	AAATTATA others(25): Show AAATTATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0035 a0002c0017t0035	a0002c0017t0035g0096 a0002c0017t0035g0096	1	397	0.0025	32	c.-28 others(43): Show c.-2897_-2896insAATTATATATATATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2573		chr4	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01074.hp2 HG02071.hp1 others(12): Show HG00280.hp2 HG01074.hp2 HG02071.hp1 HG02132.hp2 HG02135.hp2 HG02280.hp1 HG02818.hp1 HG03471.hp2 HG03704.hp1 HG04115.hp1 NA18945.hp2 NA18955.hp1 NA18960.hp2 NA18988.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0019t0003	a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0003g0143 others(12): Show a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0184 a0001c0001t0003g0189 a0001c0001t0006g0170 a0001c0001t0006g0175 a0001c0001t0010g0004 a0001c0001t0011g0038 a0001c0001t0036g0004 a0001c0001t0037g0167 a0001c0001t0038g0003 a0001c0019t0003g0188	15	306	0.0490	32	c.-28 others(43): Show c.-2894_-2893insATATATATATATATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00738.hp2 NA18998.hp1 others(1): Show HG00597.hp1 HG00738.hp2 NA18998.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0002 a0001c0001t0001 a0002c0002t0001 a0003c0003t0002	a0001c0001t0001g0218 a0002c0002t0001g0210 a0002c0002t0001g0256 others(1): Show a0001c0001t0001g0218 a0002c0002t0001g0210 a0002c0002t0001g0256 a0003c0003t0002g0007	4	149	0.0268	32	c.-28 others(43): Show c.-2876_-2875insATATATATATATATATATATATATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 NA19081.hp2 HG01192.hp1 NA19081.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0022 a0004c0004t0005g0042 a0004c0004t0005g0022 a0004c0004t0005g0042	2	375	0.0053	32	c.-28 others(43): Show c.-2875_-2874insTATATATATATATATATATATATATATATATG	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RFC3_chr13_33813149_33842500	33834329	T T	TATATATA others(25): Show TATATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	341	0.0029	32	c.810 others(47): Show c.810-817_810-816insATATATATATATATATATATACACACATAC AT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFC3_chr13_33813149_33842500	33834329	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03834.hp1 NA18965.hp2 others(2): Show HG03041.hp1 HG03834.hp1 NA18965.hp2 NA18980.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0020 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0050	5	345	0.0145	32	c.810 others(47): Show c.810-817_810-816insATATATATATATATATATATATACACATAC AT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03239.hp1 NA18522.hp1 others(1): Show HG02280.hp1 HG03239.hp1 NA18522.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0019 a0001c0001t0002 a0001c0002t0002 a0001c0002t0019	a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0002t0002g0020 others(1): Show a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0002t0002g0020 a0001c0002t0019g0018	4	216	0.0185	32	c.207 others(47): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTCTCTCTCTCT TT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124300592	A A	ATGGATGG others(25): Show ATGGATGGATGGATGGATGGACAGAAGAATGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp2 HG02647.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0130 a0001c0001t0002g0131	2	386	0.0052	32	c.207 others(49): Show c.207+4977_207+5008dupCAGAAGAATGGGTGGATGGATGGATGGA TGGA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFPL4A_chr19_55754097_55768421	55759694	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	457	0.0022	32	c.-10 others(47): Show c.-10+522_-10+523insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RFPL4A	ENSG00000223638.4	transcript	ENST00000434937.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0258 a0001c0002t0002g0258	1	187	0.0053	32	c.333 others(49): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFX1_chr19_13956530_14011320	13982261	A A	ACTGATGA others(25): Show ACTGATGACAGCCCGTGCAGTTGCACCGAGCAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02258.hp1 others(9): Show HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02630.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0002c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0012t0014 a0002c0002t0001 a0002c0020t0027	a0001c0001t0001g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 others(8): Show a0001c0001t0001g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0006g0009 a0001c0001t0006g0141 a0001c0001t0011g0021 a0001c0001t0011g0024 a0001c0012t0014g0253 a0001c0012t0014g0254 a0002c0002t0001g0251 a0002c0020t0027g0252	12	278	0.0432	32	c.514 others(45): Show c.514-65_514-34dupATGCTCGGTGCAACTGCACGGGCTGTCATCAG	RFX1	ENSG00000132005.9	transcript	ENST00000254325.9	protein_coding	4/20			chr19	TogoVar
RFX2_chr19_5988164_6115500	6107616	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	162	0.0062	32	c.-9+ others(47): Show c.-9+2776_-9+2777insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3270081	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG02886.hp2 others(1): Show HG01884.hp1 HG02723.hp1 HG02886.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0072 a0001c0001t0008 a0001c0001t0017 a0001c0001t0072	a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0017g0037 others(1): Show a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0017g0037 a0001c0001t0072g0193	4	8	0.5000	32	c.135 others(49): Show c.1357+258_1357+289dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	11/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3366693	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02074.hp1 HG00597.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0117 a0001c0001t0013g0116 a0001c0001t0002g0117 a0001c0001t0013g0116	2	46	0.0435	32	c.118 others(51): Show c.118-19961_118-19930dupAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3414632	A A	ATATATAT others(25): Show ATATATATATGAGTATATATATGTATATATGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00621.hp1 others(54): Show HG00140.hp1 HG00597.hp2 HG00621.hp1 HG01081.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01981.hp1 HG02074.hp1 HG02074.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG04115.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18971.hp1 NA18973.hp1 NA18983.hp2 NA19002.hp2 NA19003.hp1 NA19057.hp2 NA19058.hp2 NA19068.hp1 NA19076.hp1 NA19088.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0046 a0001c0001t0047 a0001c0001t0051 a0001c0001t0053 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0073	a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0092 others(54): Show a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0092 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0170 a0001c0001t0002g0058 a0001c0001t0002g0117 a0001c0001t0002g0167 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0119 a0001c0001t0003g0124 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0153 a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0005g0036 a0001c0001t0005g0106 a0001c0001t0005g0136 a0001c0001t0005g0169 a0001c0001t0007g0056 a0001c0001t0007g0064 a0001c0001t0010g0096 a0001c0001t0010g0168 a0001c0001t0013g0089 a0001c0001t0013g0090 a0001c0001t0013g0116 a0001c0001t0014g0055 a0001c0001t0015g0015 a0001c0001t0015g0016 a0001c0001t0015g0035 a0001c0001t0016g0018 a0001c0001t0017g0037 a0001c0001t0017g0038 a0001c0001t0019g0118 a0001c0001t0029g0047 a0001c0001t0030g0088 a0001c0001t0034g0021 a0001c0001t0037g0017 a0001c0001t0038g0011 a0001c0001t0041g0152 a0001c0001t0046g0057 a0001c0001t0047g0026 a0001c0001t0051g0121 a0001c0001t0053g0125 a0001c0001t0063g0174 a0001c0001t0064g0120 a0001c0001t0066g0186 a0001c0001t0067g0187 a0001c0001t0068g0188 a0001c0001t0069g0189 a0001c0001t0073g0192	57	194	0.2938	32	c.-8- others(49): Show c.-8-19068_-8-19037dupCTCATATATACATATATATACTCATATA TATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar

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