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
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0264 a0001c0003t0002g0264	1	294	0.0034	24	c.52 others(35): Show c.5232_*5233insAAAAAAAAATATATATATATATAT		RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding					4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG04115.hp1 NA19060.hp1 HG03831.hp1 HG04115.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0067 a0001c0002t0001g0114 a0001c0002t0001g0045 a0001c0002t0001g0067 a0001c0002t0001g0114	3	294	0.0102	24	c.52 others(35): Show c.5232_*5233insAAATATATATATATATATATATAT		RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding					4251		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	390	0.0026	24	c.286 others(41): Show c.286-2161_286-2160insATATATATATATATATATTTTTTT		RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12						chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0333 a0001c0002t0002g0333	1	390	0.0026	24	c.286 others(41): Show c.286-2161_286-2160insATATATATATATATATATATATTT		RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12						chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487824	A A	ATATATAT others(17): Show ATATATATTCATAATATATATATTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01192.hp1 others(6): Show HG00639.hp2 HG01069.hp1 HG01192.hp1 HG01515.hp2 HG01517.hp2 HG02040.hp1 HG02698.hp1 NA18959.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0265 a0001c0001t0001g0280 a0001c0001t0003g0098 others(5): Show a0001c0001t0001g0265 a0001c0001t0001g0280 a0001c0001t0003g0098 a0001c0001t0009g0077 a0001c0001t0009g0108 a0001c0001t0009g0115 a0001c0001t0009g0116 a0001c0001t0014g0032	9	406	0.0222	24	c.657 others(41): Show c.657+2756_657+2757insGAATATATATATTATGAATATATA		RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8						chr4	TogoVar
RCN3_chr19_49523003_49548633	49542915	A A	AAGAGAGG others(17): Show AAGAGAGGGGGACAGAGACCCAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01106.hp2 HG01109.hp1 others(13): Show HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01255.hp2 HG01943.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02559.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03669.hp1 HG04199.hp1 HG06807.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0002c0004 a0002c0014 others(2): Show a0002c0002 a0002c0004 a0002c0014 a0003c0007 a0006c0015	a0002c0002t0002 a0002c0004t0002 a0002c0014t0002 others(2): Show a0002c0002t0002 a0002c0004t0002 a0002c0014t0002 a0003c0007t0002 a0006c0015t0010	a0002c0002t0002g0027 a0002c0002t0002g0063 a0002c0002t0002g0065 others(11): Show a0002c0002t0002g0027 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0071 a0002c0002t0002g0075 a0002c0004t0002g0030 a0002c0004t0002g0070 a0002c0004t0002g0072 a0002c0004t0002g0073 a0002c0004t0002g0074 a0002c0014t0002g0027 a0003c0007t0002g0047 a0003c0007t0002g0076 a0006c0015t0010g0068	16	380	0.0421	24	c.879 others(39): Show c.879+165_880-166dupGAGAGGGGGACAGAGACCCAGAGA		RCN3	ENSG00000142552.8	transcript	ENST00000270645.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
RCN3_chr19_49523003_49548633	49542934	C C	CCAGAGAG others(17): Show CCAGAGAGAGAGGGGGACAGAGACT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 NA19240.hp1 HG02055.hp2 HG02451.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0067 a0002c0002t0002g0028 a0002c0002t0002g0067	3	380	0.0079	24	c.880 others(39): Show c.880-166_880-165insGAGAGGGGGACAGAGACTCAGAGA		RCN3	ENSG00000142552.8	transcript	ENST00000270645.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
RCN3_chr19_49523003_49548633	49544650	G G	GACAGAGA others(17): Show GACAGAGACCCAGAGAGAGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp1 others(42): Show HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00735.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 NA18522.hp2 NA18982.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0001c0001t0006 a0007c0011t0001 a0001c0001t0001 a0001c0001t0006 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0006g0008 a0001c0001t0006g0145 a0007c0011t0001g0097	45	380	0.1184	24	c.14 others(35): Show c.1437_*1438insACAGAGACCCAGAGAGAGAGGGGA		RCN3	ENSG00000142552.8	transcript	ENST00000270645.8	protein_coding					1018		chr19	TogoVar
RCOR1_chr14_102587649_102735561	102653920	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	292	0.0034	24	c.362 others(43): Show c.362-27932_362-27909dupCTTTCTTTCTTTCTTTCTTTCTTT		RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01515.hp1 HG01981.hp1 others(7): Show HG00621.hp1 HG01515.hp1 HG01981.hp1 HG02080.hp2 HG02148.hp2 HG04228.hp2 NA18949.hp1 NA18979.hp1 NA19002.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0032	a0001c0001t0002g0045 a0001c0001t0002g0146 a0001c0001t0002g0147 others(7): Show a0001c0001t0002g0045 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0176 a0001c0001t0002g0205 a0001c0001t0007g0057 a0001c0001t0007g0173 a0001c0001t0014g0177 a0001c0001t0032g0167	10	350	0.0286	24	c.-30 others(35): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTTTTTT		RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding					2862		chr1	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19001.hp1 NA18962.hp2 NA19001.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0008c0011t0001 a0001c0001t0001 a0008c0011t0001	a0001c0001t0001g0028 a0008c0011t0001g0027 a0001c0001t0001g0028 a0008c0011t0001g0027	2	350	0.0057	24	c.6+3 others(35): Show c.6+301_6+324dupAAAAAAAAAAAAAAAAAAAAAAAA		RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RCSD1_chr1_167625232_167713696	167630736	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	350	0.0029	24	c.6+3 others(35): Show c.6+324_6+325insAAAAAATAAAAAAAAAAAAAAAAA		RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RCSD1_chr1_167625232_167713696	167701252	G G	GTTTCTTT others(17): Show GTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02698.hp2 NA19087.hp1 HG02004.hp2 HG02698.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0039 a0001c0001t0003g0060 a0001c0001t0003g0018 a0001c0001t0003g0039 a0001c0001t0003g0060	3	350	0.0086	24	c.121 others(43): Show c.1219-3368_1219-3345dupCTTTCTTTCTTTCTTTCTTTCTTT		RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RDH8_chr19_10008483_10027279	10020358	G G	GAGGGAGG others(17): Show GAGGGAGGGAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02735.hp2 HG03491.hp2 others(4): Show HG02056.hp1 HG02735.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03834.hp1 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0002 a0001c0003t0003	a0001c0003t0002g0156 a0001c0003t0003g0035 a0001c0003t0003g0117 others(2): Show a0001c0003t0002g0156 a0001c0003t0003g0035 a0001c0003t0003g0117 a0001c0003t0003g0118 a0001c0003t0003g0161	7	464	0.0151	24	c.443 others(39): Show c.443-348_443-347insGAGGGAGGGAGGGAGGAAGGAAGG		RDH8	ENSG00000080511.5	transcript	ENST00000591589.3	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01109.hp1 HG02257.hp2 others(8): Show HG00558.hp1 HG01109.hp1 HG02257.hp2 HG02273.hp2 HG02602.hp2 NA18943.hp1 NA18954.hp1 NA18960.hp1 NA18969.hp2 NA19065.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0019	a0001c0001t0001g0114 a0001c0001t0001g0193 a0001c0001t0001g0194 others(8): Show a0001c0001t0001g0114 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0240 a0001c0001t0002g0311 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0005g0312 a0001c0001t0013g0287 a0001c0001t0013g0288 a0001c0001t0019g0222	11	376	0.0293	24	c.-65 others(41): Show c.-65+6487_-65+6510dupTTTTTTTTTTTTTTTTTTTTTTTT		RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13						chr11	TogoVar
RECK_chr9_36031913_36129455	36048126	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02738.hp1 HG02895.hp2 others(3): Show HG01243.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp1 HG03195.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0008 a0003c0006t0001 a0001c0001t0001 a0001c0001t0008 a0003c0006t0001	a0001c0001t0001g0010 a0001c0001t0001g0204 a0001c0001t0001g0318 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0204 a0001c0001t0001g0318 a0001c0001t0008g0339 a0001c0001t0008g0340 a0003c0006t0001g0387	6	392	0.0153	24	c.101 others(41): Show c.101-4128_101-4105dupATATATATATATATATATATATAT		RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36082152	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02809.hp1 HG04228.hp2 others(2): Show HG02015.hp1 HG02809.hp1 HG04228.hp2 NA19030.hp2 NA19083.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0001c0008 a0002c0003 others(1): Show a0001c0002 a0001c0008 a0002c0003 a0009c0014	a0001c0002t0001 a0001c0008t0010 a0002c0003t0001 others(1): Show a0001c0002t0001 a0001c0008t0010 a0002c0003t0001 a0009c0014t0001	a0001c0002t0001g0071 a0001c0008t0010g0362 a0002c0003t0001g0222 others(2): Show a0001c0002t0001g0071 a0001c0008t0010g0362 a0002c0003t0001g0222 a0002c0003t0001g0234 a0009c0014t0001g0058	5	392	0.0128	24	c.440 others(41): Show c.440-1200_440-1177dupTCTCTCTCTCTCTCTCTCTCTCTC		RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
RECQL5_chr17_75621854_75672154	75642620	T T	TGATGACG others(17): Show TGATGACGATGATCATGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA20300.hp1 HG02615.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	2	378	0.0053	24	c.122 others(43): Show c.1229+8542_1229+8565dupCTCCTCCTCATGATCATCGTCATC		RECQL5	ENSG00000108469.15	transcript	ENST00000317905.10	protein_coding	8/19						chr17	TogoVar
REEP3_chr10_63516401_63630128	63533710	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	284	0.0035	24	c.32+ others(41): Show c.32+12148_32+12149insTTTTTTTTTTTTTTTTTTTTTTTT		REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP5_chr5_112871385_112927227	112895237	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0263 a0001c0001t0056g0263	1	340	0.0029	24	c.351 others(41): Show c.351+7142_351+7143insTTTTTTTTTTTTTTTTTTTTTTTT		REEP5	ENSG00000129625.13	transcript	ENST00000379638.9	protein_coding	3/4						chr5	TogoVar
REEP6_chr19_1486181_1502927	1493708	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(76): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02258.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18747.hp2 NA18951.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18972.hp1 NA18984.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA19004.hp2 NA19005.hp1 NA19030.hp1 NA19043.hp2 NA19074.hp1 NA19087.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0012	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0009c0010 a0012c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0002c0002t0002 a0003c0004t0001 a0009c0010t0001 a0012c0013t0007	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0023 others(39): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0153 a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0004g0018 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0005g0152 a0001c0001t0007g0002 a0002c0002t0002g0097 a0003c0004t0001g0005 a0009c0010t0001g0005 a0012c0013t0007g0157	79	318	0.2484	24	c.116 others(41): Show c.116-1585_116-1562dupACACACACACACACACACACACAC		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
REEP6_chr19_1486181_1502927	1500696	G G	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0127 a0001c0001t0006g0127	1	318	0.0031	24	c.34 others(35): Show c.3485_*3486insAAAAAAAAAAAAAAAAAAAAAAAA		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2770		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500696	G G	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAAGAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	318	0.0031	24	c.34 others(35): Show c.3485_*3486insAAAAAAAAAAAAAAAGAAAAAAAA		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2770		chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGAG others(17): Show TGTGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19088.hp1 NA19082.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0117 a0001c0001t0001g0081 a0001c0001t0001g0117	2	382	0.0052	24	c.164 others(39): Show c.164-138_164-137insTGTGAGAGAGAGAGAGAGAGAGAG		RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(17): Show TGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03209.hp1 NA18952.hp2 HG02293.hp2 HG03209.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0202 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0202	3	382	0.0079	24	c.164 others(39): Show c.164-138_164-137insTGTGTGTGAGAGAGAGAGAGAGAG		RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19080.hp2 HG01358.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0325 a0001c0001t0001g0294 a0001c0001t0001g0325	2	382	0.0052	24	c.164 others(39): Show c.164-138_164-137insTGTGTGTGTGAGAGAGAGAGAGAG		RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	382	0.0026	24	c.164 others(39): Show c.164-138_164-137insTGTGTGTGTGTGTGTGAGAGAGAG		RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	382	0.0026	24	c.164 others(39): Show c.164-138_164-137insTGTGTGTGTGTGTGTGTGTGAGAG		RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45023393	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	382	0.0026	24	c.662 others(41): Show c.662+1200_662+1223dupTTCCTTCCTTCCTTCCTTCCTTCC		RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
RELN_chr7_103466789_103994658	103489215	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGCGCGCGCACGCGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp2 HG03540.hp1 HG02717.hp1 HG03041.hp2 HG03540.hp1	a0009 a0024 a0009 a0024	a0009c0025 a0024c0037 a0009c0025 a0024c0037	a0009c0025t0006 a0024c0037t0006 a0009c0025t0006 a0024c0037t0006	a0009c0025t0006g0039 a0009c0025t0006g0040 a0024c0037t0006g0107 a0009c0025t0006g0039 a0009c0025t0006g0040 a0024c0037t0006g0107	3	184	0.0163	24	c.976 others(41): Show c.9763+526_9763+527insGCGCGTGCGCGCGCACACACACAC		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	60/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103494365	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02165.hp2 HG02293.hp1 others(2): Show HG00738.hp1 HG02165.hp2 HG02293.hp1 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0023 others(1): Show a0001c0005 a0001c0008 a0001c0023 a0001c0057	a0001c0005t0001 a0001c0008t0001 a0001c0008t0004 others(2): Show a0001c0005t0001 a0001c0008t0001 a0001c0008t0004 a0001c0023t0001 a0001c0057t0001	a0001c0005t0001g0145 a0001c0008t0001g0138 a0001c0008t0004g0159 others(2): Show a0001c0005t0001g0145 a0001c0008t0001g0138 a0001c0008t0004g0159 a0001c0023t0001g0134 a0001c0057t0001g0112	5	184	0.0272	24	c.936 others(43): Show c.9369+1334_9369+1357dupCACACACACACACACACACACACA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	57/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103518505	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0081 a0005c0081	a0005c0081t0001 a0005c0081t0001	a0005c0081t0001g0157 a0005c0081t0001g0157	1	184	0.0054	24	c.786 others(41): Show c.7862+817_7862+818insAAAAAAAAAAAAAAAAAAAAAAAA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	49/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103593526	A A	AAAGCTTC others(17): Show AAAGCTTCGCAATTCTAACACTGTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19240.hp2 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0023 a0001c0067 a0001c0023 a0001c0067	a0001c0023t0001 a0001c0067t0002 a0001c0023t0001 a0001c0067t0002	a0001c0023t0001g0110 a0001c0067t0002g0008 a0001c0023t0001g0110 a0001c0067t0002g0008	2	184	0.0109	24	c.391 others(41): Show c.3912+132_3912+155dupAACAGTGTTAGAATTGCGAAGCTT		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	27/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103773100	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	184	0.0054	24	c.544 others(41): Show c.544+3456_544+3457insGAGAGAAAGAAAGAAAGAAAGAAA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	4/64						chr7	TogoVar
RELT_chr11_73371399_73402474	73377269	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03139.hp1 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0144 a0001c0002t0002g0143 a0001c0001t0003g0144 a0001c0002t0002g0143	2	340	0.0059	24	c.-26 others(39): Show c.-26+771_-26+794dupGTGTGTGTGTGTGTGTGTGTGTGT		RELT	ENSG00000054967.13	transcript	ENST00000064780.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
RELT_chr11_73371399_73402474	73397767	C C	CAGGTGGG others(17): Show CAGGTGGGTGTTTAGGCCAGGACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	340	0.0029	24	c.22 others(35): Show c.2276_*2277insAGGTGGGTGTTTAGGCCAGGACTG		RELT	ENSG00000054967.13	transcript	ENST00000064780.7	protein_coding					294		chr11	TogoVar
RENBP_chrX_153930269_153949643	153935303	A A	AGGCGGGG others(17): Show AGGCGGGGGTGGGGGCGGGGGAGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18970.hp1 NA18970.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0142 a0016c0019t0001g0142	1	297	0.0034	24	c.124 others(33): Show c.1243_1266dupCCCTCCCCCGCCCCCACCCCCGCC	p.Ala others(37): Show p.Ala422_Cys423insProSerProAlaProThrProAla	RENBP	ENSG00000102032.13	transcript	ENST00000393700.8	protein_coding	11/11	1299/1334	1266/1284	422/427			chrX	TogoVar
REPS1_chr6_138898493_138993253	138921976	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0027 a0002c0003t0004g0027	1	390	0.0026	24	c.133 others(41): Show c.1339-876_1339-853dupACACACACACACACACACACACAC		REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	10/19						chr6	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0045 a0001c0001t0020g0045	1	166	0.0060	24	c.908 others(41): Show c.908-2208_908-2185dupCTTTCTTTCTTTCTTTCTTTCTTT		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17093166	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0016 a0001c0001t0010 a0001c0001t0016	a0001c0001t0010g0139 a0001c0001t0016g0020 a0001c0001t0010g0139 a0001c0001t0016g0020	2	166	0.0121	24	c.151 others(45): Show c.1517-10541_1517-10518dupTATATATATATATATATATATATA		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	13/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8372507	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19090.hp1 NA20300.hp2 NA19074.hp1 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0006g0154 a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0006g0154	3	204	0.0147	24	c.128 others(43): Show c.1285-6557_1285-6534dupACACACACACACACACACACACAC		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8400222	A A	ATATGTGT others(17): Show ATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18964.hp1 NA19007.hp2 HG01517.hp2 NA18964.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0037 a0001c0001t0003 a0001c0001t0037	a0001c0001t0003g0093 a0001c0001t0003g0100 a0001c0001t0037g0196 a0001c0001t0003g0093 a0001c0001t0003g0100 a0001c0001t0037g0196	3	204	0.0147	24	c.128 others(45): Show c.1284+22504_1284+22505insCACACACACACACACACACACATA		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8401038	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18946.hp1 HG02698.hp1 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0036 a0001c0003t0004g0011 a0001c0003t0004g0036	2	204	0.0098	24	c.128 others(45): Show c.1284+21665_1284+21688dupATATATATATATATATATATATAT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8401069	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02155.hp2 HG00609.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0030 a0001c0001t0003 a0001c0001t0030	a0001c0001t0003g0104 a0001c0001t0030g0143 a0001c0001t0003g0104 a0001c0001t0030g0143	2	204	0.0098	24	c.128 others(45): Show c.1284+21657_1284+21658insCATATATATATATATATATATATA		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8501986	G G	GCGCCTCT others(17): Show GCGCCTCTGCCCGGCCGCCCCTACT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03195.hp2 HG00597.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0023t0014 a0001c0001t0001 a0001c0023t0014	a0001c0001t0001g0064 a0001c0023t0014g0119 a0001c0001t0001g0064 a0001c0023t0014g0119	2	204	0.0098	24	c.880 others(41): Show c.880-4458_880-4457insAGTAGGGGCGGCCGGGCAGAGGCG		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8512014	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp2 HG00741.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0008	a0001c0001t0001g0013 a0001c0003t0008g0105 a0001c0001t0001g0013 a0001c0003t0008g0105	2	204	0.0098	24	c.831 others(41): Show c.831-3363_831-3340dupAAAAAAAAAAAAAAAAAAAAAAAA		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	204	0.0049	24	c.831 others(41): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0047 a0001c0007t0004g0047	1	204	0.0049	24	c.523 others(41): Show c.523-1781_523-1758dupTTTTTTTTTTTTTTTTTTTTTTTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0134 a0001c0002t0005g0134	1	204	0.0049	24	c.-14 others(45): Show c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTTTTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0029 a0006c0013t0029	a0006c0013t0029g0111 a0006c0013t0029g0111	1	204	0.0049	24	c.-14 others(45): Show c.-145+27858_-145+27859insATATATATATATATATTTTTTTTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22						chr1	TogoVar

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