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
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(89): Show GTGTATATATACACACACACACATATATACGTATATATATGTGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	11	0.0909	96	c.105 others(115): Show c.1058+6173_1058+6174insGTATATATACACACACACACATATAT ACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTGTATATAT		RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RCBTB2_chr13_48483963_48538080	48527356	T T	TATATATG others(89): Show TATATATGATATATATATATGATATATATATATGATATATATATATGATA TATATATATGATATATATATATGATATATATATGATATATATATATG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19030.hp2 NA19240.hp2 HG02630.hp1 NA19030.hp2 NA19240.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0275 a0002c0006t0001g0276 a0002c0006t0001g0277 a0002c0006t0001g0275 a0002c0006t0001g0276 a0002c0006t0001g0277	3	270	0.0111	96	c.-21 others(115): Show c.-218-2600_-218-2599insCATATATATATATCATATATATATCA TATATATATATCATATATATATATCATATATATATATCATATATATATAT CATATATATATATCATATAT		RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14						chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48527369	G G	GATATATA others(89): Show GATATATATATATATGATATATATTTATATATGATATATATATATGATAT ATATTTATATATGATATATATATATATGATATATATTTATATATGAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	207	0.0048	96	c.-21 others(115): Show c.-218-2613_-218-2612insATCATATATAAATATATATCATATAT ATATATATCATATATAAATATATATCATATATATATATCATATATAAATA TATATCATATATATATATAT		RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14						chr13	TogoVar
RCHY1_chr4_75474033_75519403	75487498	A A	AATATATA others(89): Show AATATATATATTCATAATATATATATTCATAATATATATATATTCATAAT ATATATATTCATAATATATATATATTCATAATATATATATTCATAAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	330	0.0030	96	c.657 others(113): Show c.657+3082_657+3083insATTATGAATATATATATTATGAATATAT ATATATTATGAATATATATATTATGAATATATATATATTATGAATATATA TATTATGAATATATATAT		RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8						chr4	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(89): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	50	0.0200	96	c.908 others(113): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(89): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0031 a0001c0001t0011g0031	1	50	0.0200	96	c.908 others(113): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(89): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	74	0.0135	96	c.62- others(113): Show c.62-40020_62-40019insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT		RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4						chr12	TogoVar
RFTN1_chr3_16310845_16518699	16404357	T T	TATTTCAT others(89): Show TATTTCATATATAATATATATATATTTCATATATATATAATAATATTATA TATATATATATAATATAATATAATATATATTTCATATATAATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0117	1	181	0.0055	96	c.441 others(113): Show c.441+5017_441+5018insTATATATTATATATGAAATATATATTAT ATTATATTATATATATATATATAATATTATTATATATATATGAAATATAT ATATATTATATATGAAAT		RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9						chr3	TogoVar
RFWD3_chr16_74616399_74671877	74666819	C C	CCCGCCGA others(89): Show CCCGCCGAAGACTCGGTAGTTACCTCCGCCGAAGACTCGGTAGTTACCTC CGCCGAAGACTCGGTAGTTACCTCCGCCGAAGACTCGGTAGTTACCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00673.hp2 HG01261.hp1 HG02027.hp1 HG00673.hp2 HG01261.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0015 a0001c0004t0025 a0001c0002t0015 a0001c0004t0025	a0001c0002t0015g0138 a0001c0002t0015g0139 a0001c0004t0025g0137 a0001c0002t0015g0138 a0001c0002t0015g0139 a0001c0004t0025g0137	3	142	0.0211	96	c.-37 others(103): Show c.-37_-36insAGGTAACTACCGAGTCTTCGGCGGAGGTAACTACCGAG TCTTCGGCGGAGGTAACTACCGAGTCTTCGGCGGAGGTAACTACCGAGTC TTCGGCGG		RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	1/13				5371		chr16	TogoVar
RIMBP2_chr12_130391133_130721299	130646322	T T	TCCACCTC others(89): Show TCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTGCCTCTC CACCTCCCTCTCCACCTCCCTCTCCACCTGCCTCTCCACCTCCCTCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0016 a0002c0023t0001g0016	1	130	0.0077	96	c.-35 others(117): Show c.-351-17867_-351-17866insTGAGGGAGGTGGAGAGGCAGGTGG AGAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAG AGGGAAGTGGTGAGGGAGGTGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646327	C C	CTCCCTCT others(89): Show CTCCCTCTCCACCTGCCTCACCACCTCCCTCTCCACCTCCCTCACCACCT CCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0039 a0003c0039	a0003c0039t0001 a0003c0039t0001	a0003c0039t0001g0144 a0003c0039t0001g0144	1	177	0.0056	96	c.-35 others(117): Show c.-351-17872_-351-17871insAGTGGTGAGGGAGGTGGTGAGGGA GGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGG TGGTGAGGCAGGTGGAGAGGGA		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646334	A A	ACCACCTC others(89): Show ACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTGCCTCTC CACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACTTCCCTCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	143	0.0070	96	c.-35 others(117): Show c.-351-17879_-351-17878insAGAGGGAAGTGGAGAGGGAGGTGG TGAGGGAGGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTG AGGGAGGTGGTGAGGGAGGTGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646445	A A	ACCTCCCT others(89): Show ACCTCCCTCACCACCTGCCTCATCACCTCCCTCACCACCTGCCTCGCCAC CTCCCTCACCACCTCCCTCGCCACCTCCCTCACCACCTCCCTCACCG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0003 a0002c0034t0003	a0002c0034t0003g0133 a0002c0034t0003g0133	1	161	0.0062	96	c.-35 others(117): Show c.-351-17990_-351-17989insCGGTGAGGGAGGTGGTGAGGGAGG TGGCGAGGGAGGTGGTGAGGGAGGTGGCGAGGCAGGTGGTGAGGGAGGTG ATGAGGCAGGTGGTGAGGGAGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIPOR2_chr6_24799284_24940960	24927022	C C	CAACTACA others(89): Show CAACTACAATCACCACCACCACCACCACCACCACAACTACAATCACCACC ACCACCATCACTACCACCAGCACCACTACAACTACAATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG02040.hp1 others(4): Show HG00099.hp2 HG00323.hp1 HG02040.hp1 HG04199.hp1 HG04228.hp2 NA18982.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0036 a0001c0003t0002 a0001c0001t0001 a0001c0001t0036 a0001c0003t0002	a0001c0001t0001g0034 a0001c0001t0001g0211 a0001c0001t0036g0291 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0211 a0001c0001t0036g0291 a0001c0003t0002g0292 a0001c0003t0002g0293 a0001c0003t0002g0294 a0001c0003t0002g0312	7	117	0.0598	96	c.61+ others(111): Show c.61+8815_61+8816insATGGTGGTGATTGTAGTTGTAGTGGTGCTG GTGGTAGTGATGGTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTGGTGGT GGTGGTGATTGTAGTT		RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21						chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24927054	C C	CCAGCACC others(89): Show CCAGCACCACTACAACTACAATCACCACCATCACCATCACTACCACCAGC ACCACTACAACTACAATCACCATCACCACCACCACCACAACTACAAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18957.hp2 NA19057.hp1 others(1): Show NA18747.hp1 NA18957.hp2 NA19057.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0192 a0001c0001t0004g0190 a0001c0001t0004g0324 others(1): Show a0001c0001t0001g0192 a0001c0001t0004g0190 a0001c0001t0004g0324 a0001c0001t0011g0191	4	58	0.0690	96	c.61+ others(111): Show c.61+8783_61+8784insATTGTAGTTGTGGTGGTGGTGGTGATGGTG ATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATGGTGATGGTGGTGATTGT AGTTGTAGTGGTGCTG		RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21						chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24927140	C C	CCAGCACC others(89): Show CCAGCACCACTACAACTACAATCACCACCATCACCATCACTACCACCAGC ACCACTACAACTACAATCACCATCACCACCACCACCACAACTACAAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01175.hp2 HG03516.hp2 HG01069.hp2 HG01175.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0009 a0001c0001 a0001c0003 a0002c0009	a0001c0001t0008 a0001c0003t0002 a0002c0009t0006 a0001c0001t0008 a0001c0003t0002 a0002c0009t0006	a0001c0001t0008g0193 a0001c0003t0002g0194 a0002c0009t0006g0072 a0001c0001t0008g0193 a0001c0003t0002g0194 a0002c0009t0006g0072	3	193	0.0155	96	c.61+ others(111): Show c.61+8697_61+8698insATTGTAGTTGTGGTGGTGGTGGTGATGGTG ATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATGGTGATGGTGGTGATTGT AGTTGTAGTGGTGCTG		RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21						chr6	TogoVar
RIPOR3_chr20_50581108_50696542	50666190	T T	TTTTCTTT others(89): Show TTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT CTTCTCCTCTCTTCTCTTCTCCTCTTCTCTTCTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18948.hp1 NA18979.hp2 others(2): Show HG01346.hp1 NA18948.hp1 NA18979.hp2 NA19087.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0065 a0001c0001t0001g0139 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0139 a0001c0001t0001g0156 a0001c0001t0001g0157 a0002c0002t0001g0155	5	172	0.0291	96	c.3+2 others(111): Show c.3+24935_3+24936insGAAGAGAAGAGAAGAGAAGAGAAGAGGAGA AGAGAAGAGAGGAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAGAAA		RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21						chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(89): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCATCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0158 a0002c0002t0046g0158	1	29	0.0345	96	c.-76 others(105): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCATCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCT		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					275		chr14	TogoVar
RNF44_chr5_176521712_176542402	176530228	G G	GGTCAGCC others(89): Show GGTCAGCCCAGCGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAG TCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	2	268	0.0075	96	c.802 others(109): Show c.802-23_802-22insTTGCACCTGGGCTCCGGGGCGGCTGGGAGGCA GGCCCACCGGGCTGACTTGCACCTGGGCTCCGGGGCGGCTGGGAGGCAGG CCCGCTGGGCTGAC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530239	C C	CGGGCCTG others(89): Show CGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGTG GGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	374	0.0027	96	c.802 others(109): Show c.802-34_802-33insACCGGGCTGACTTGCACCTGGGCTCCGGGGCG GCTGGGAGGCAGGCCCACCGGGCTGACTTGCACCTGGGCTCCGGGGCGGC TGGGAGGCAGGCCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530270	G G	GGTGCAAG others(89): Show GGTGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCACG TGCAAGTCAGCCCAGCAGGCCTGCCTCCCAGCCGCCCCGGAGCCCAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0049 a0003c0005t0001g0049	2	359	0.0056	96	c.802 others(109): Show c.802-65_802-64insGTGGGCTCCGGGGCGGCTGGGAGGCAGGCCTG CTGGGCTGACTTGCACGTGGGCTCCGGGGCGGCTGGGAGGCAGGCCCACC GGGCTGACTTGCAC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530384	G G	GGGCCTGC others(89): Show GGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCAG GCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	415	0.0024	96	c.802 others(111): Show c.802-179_802-178insTGCTGGGCTGACTTGCACCTGGGCTCCGGG GCGGCTGGGAGGCAGGCCTGCTGGGCTGACTTGCACCTGGGCTCCGGGGC GGCTGGGAGGCAGGCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(89): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00609.hp2 HG01928.hp1 HG01928.hp2 others(23): Show HG00609.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp2 NA18941.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA18974.hp2 NA18979.hp2 NA18981.hp2 NA18990.hp2 NA19003.hp1 NA19063.hp2 NA19064.hp1 NA19079.hp2	a0005 a0008 a0012 others(3): Show a0005 a0008 a0012 a0072 a0080 a0136	a0005c0005 a0005c0013 a0008c0135 others(5): Show a0005c0005 a0005c0013 a0008c0135 a0008c0136 a0012c0029 a0072c0207 a0080c0062 a0136c0085	a0005c0005t0002 a0005c0005t0005 a0005c0013t0002 others(7): Show a0005c0005t0002 a0005c0005t0005 a0005c0013t0002 a0005c0013t0005 a0008c0135t0002 a0008c0136t0002 a0012c0029t0002 a0072c0207t0002 a0080c0062t0002 a0136c0085t0002	a0005c0005t0002g0049 a0005c0005t0002g0056 a0005c0005t0002g0061 others(23): Show a0005c0005t0002g0049 a0005c0005t0002g0056 a0005c0005t0002g0061 a0005c0005t0002g0066 a0005c0005t0002g0092 a0005c0005t0002g0106 a0005c0005t0002g0152 a0005c0005t0002g0172 a0005c0005t0002g0186 a0005c0005t0002g0204 a0005c0005t0002g0216 a0005c0005t0002g0225 a0005c0005t0005g0291 a0005c0013t0002g0048 a0005c0013t0005g0270 a0005c0013t0005g0272 a0005c0013t0005g0294 a0005c0013t0005g0329 a0008c0135t0002g0045 a0008c0136t0002g0188 a0012c0029t0002g0008 a0012c0029t0002g0170 a0012c0029t0002g0201 a0072c0207t0002g0098 a0080c0062t0002g0148 a0136c0085t0002g0044	26	331	0.0785	96	c.402 others(105): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGGGACTAAA	p.Lys others(111): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGl nLeuGluGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(89): Show CTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACT TTAGTCCCCTCTAACTGCACCACCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03453.hp1 HG03453.hp1	a0121 a0121	a0121c0201 a0121c0201	a0121c0201t0001 a0121c0201t0001	a0121c0201t0001g0256 a0121c0201t0001g0256	1	306	0.0033	96	c.402 others(105): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGTGGTGCAGTTA GAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGAAACTAAA	p.Lys others(111): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluValVal GlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGl nLeuGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(89): Show CTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACT TTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03130.hp1 NA20129.hp2 HG03130.hp1 NA20129.hp2	a0112 a0152 a0112 a0152	a0112c0162 a0152c0184 a0112c0162 a0152c0184	a0112c0162t0016 a0152c0184t0003 a0112c0162t0016 a0152c0184t0003	a0112c0162t0016g0405 a0152c0184t0003g0380 a0112c0162t0016g0405 a0152c0184t0003g0380	2	307	0.0065	96	c.402 others(105): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGAAACTAAA	p.Lys others(111): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGl nLeuGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(89): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19056.hp1 NA19088.hp1 NA19056.hp1 NA19088.hp1	a0050 a0050	a0050c0032 a0050c0032	a0050c0032t0001 a0050c0032t0001	a0050c0032t0001g0083 a0050c0032t0001g0084 a0050c0032t0001g0083 a0050c0032t0001g0084	2	225	0.0089	96	c.401 others(105): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTG CAGTTAGAGG	p.Glu others(111): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGl uGlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(89): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG01934.hp2 NA20752.hp1 HG00099.hp1 HG01934.hp2 NA20752.hp1	a0021 a0021	a0021c0035 a0021c0068 a0021c0035 a0021c0068	a0021c0035t0002 a0021c0035t0005 a0021c0068t0003 a0021c0035t0002 a0021c0035t0005 a0021c0068t0003	a0021c0035t0002g0036 a0021c0035t0005g0360 a0021c0068t0003g0317 a0021c0035t0002g0036 a0021c0035t0005g0360 a0021c0068t0003g0317	3	226	0.0133	96	c.401 others(105): Show c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTG CAGTTAGAGG	p.Glu others(111): Show p.Glu1339_Glu1340insGlyThrLysThrGluGluGlyLeuGlnGlu GluGlyValGlnLeuGluGlyThrLysThrGluGluGlyLeuGlnGluGl uGlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(89): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp1 HG02723.hp1	a0098 a0098	a0098c0164 a0098c0164	a0098c0164t0013 a0098c0164t0013	a0098c0164t0013g0245 a0098c0164t0013g0245	1	224	0.0045	96	c.401 others(105): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTG CAGTTAGAGG	p.Glu others(111): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGl uGlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610095	C C	CCTCTTCT others(89): Show CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCC TCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02698.hp2 HG02698.hp2	a0096 a0096	a0096c0118 a0096c0118	a0096c0118t0005 a0096c0118t0005	a0096c0118t0005g0335 a0096c0118t0005g0335	1	396	0.0025	96	c.400 others(105): Show c.4002_4003insAGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGG CTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCT GCAAGAAGAG	p.Glu others(111): Show p.Glu1334_Gly1335insArgValGlnLeuGluGluThrLysThrGlu GluGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysThrGluGl uGlyLeuGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4267/8014	4002/7203	1334/2400			chr8	TogoVar
RPEL1_chr10_103240887_103253016	103251253	T T	TCCACCAT others(89): Show TCCACCATCACCACCATCACCACCTCCACCGCCATCACCACCTCCACCAC CATCACCATCTCCACCATCACCACCATCACCACCATCACCACCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02559.hp1 others(6): Show HG01070.hp2 HG01071.hp2 HG02559.hp1 HG02683.hp1 HG02922.hp2 HG03195.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0007g0000 a0001c0001t0008g0000	9	155	0.0581	96	c.45 others(107): Show c.4570_*4571insCCACCATCACCACCATCACCACCTCCACCGCCAT CACCACCTCCACCACCATCACCATCTCCACCATCACCACCATCACCACCA TCACCACCTCCA		RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding					3238		chr10	TogoVar
RPH3AL_chr17_207389_357807	334768	A A	ATCCACTG others(89): Show ATCCACTGTGGAGGGACAGGGACAAGGACAGGGACAAGGCAACCACCCCC AGCAAGTGCGGCTCCTTCTCCCCACGCCTTCCCCCAGGGCCAGCCCG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03516.hp1 NA18522.hp1 HG02723.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0001t0001 a0001c0001t0003 a0001c0003t0002	a0001c0001t0001g0089 a0001c0001t0003g0101 a0001c0003t0002g0059 a0001c0001t0001g0089 a0001c0001t0003g0101 a0001c0003t0002g0059	3	38	0.0789	96	c.-21 others(113): Show c.-212-835_-212-834insCGGGCTGGCCCTGGGGGAAGGCGTGGGG AGAAGGAGCCGCACTTGCTGGGGGTGGTTGCCTTGTCCCTGTCCTTGTCC CTGTCCCTCCACAGTGGA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	353520	T T	TCAAACTG others(89): Show TCAAACTGGGTTCCAAGGAGCCGGGGTGTGGAGCCCCTCTTCAGGACTGT ACAGGCGAAGCAGGGGGCTGGGAACAAGGCCGGTTATTATAACCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01361.hp1 others(7): Show HG01167.hp1 HG01243.hp1 HG01361.hp1 HG01496.hp1 HG02055.hp2 HG02622.hp2 HG02976.hp2 HG03453.hp2 HG03516.hp1 NA18522.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0007c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0002t0001 a0001c0002t0029 a0001c0003t0001 a0007c0014t0018	a0001c0001t0001g0104 a0001c0001t0003g0101 a0001c0001t0005g0100 others(7): Show a0001c0001t0001g0104 a0001c0001t0003g0101 a0001c0001t0005g0100 a0001c0001t0006g0105 a0001c0001t0017g0099 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0029g0103 a0001c0003t0001g0075 a0007c0014t0018g0102	10	78	0.1282	96	c.-10 others(107): Show c.-1022_-1021insTTGGGTTATAATAACCGGCCTTGTTCCCAGCCCC CTGCTTCGCCTGTACAGTCCTGAAGAGGGGCTCCACACCCCGGCTCCTTG GAACCCAGTTTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding					714		chr17	TogoVar
RPL35A_chr3_197945190_197961610	197960990	T T	TTCCTCTG others(89): Show TTCCTCTGCTCTGGAAGTGCCTGCCCGCCTCCCATCCCATTTTTCTCTCT GCTTAAATTCTTTGTCTCATTTCAAATTCCCTAACCTCAAGGCAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	96	c.52 others(107): Show c.5217_*5218insTCCTCTGCTCTGGAAGTGCCTGCCCGCCTCCCAT CCCATTTTTCTCTCTGCTTAAATTCTTTGTCTCATTTCAAATTCCCTAAC CTCAAGGCAGCC		RPL35A	ENSG00000182899.17	transcript	ENST00000647248.2	protein_coding					4381		chr3	TogoVar
RPL5_chr1_92827040_92846924	92846848	T T	TGTATATA others(89): Show TGTATATATATATATATATATATATATGTGTGTGTATATATATATATATA TACACACACACGTATATATATATATACACACACGTATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	93	0.0108	96	c.49 others(107): Show c.4983_*4984insGTATATATATATATATATATATATATGTGTGTGT ATATATATATATATATACACACACACGTATATATATATATACACACACGT ATATATATATAC		RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding					4925		chr1	TogoVar
RPL5_chr1_92827040_92846924	92846867	A A	ATATACAC others(89): Show ATATACACACGTATATATATATATATATACACACGTATATATATATATAC ACACGTATATATATATACACGTATATATATATACATATATATATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	321	0.0031	96	c.50 others(107): Show c.5002_*5003insTATACACACGTATATATATATATATATACACACG TATATATATATATACACACGTATATATATATACACGTATATATATATACA TATATATATGTG		RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding					4944		chr1	TogoVar
RPS6KA2_chr6_166404364_166632251	166517477	T T	TTTTTTTT others(89): Show TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCTCTTCCCGGG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	242	0.0041	96	c.299 others(113): Show c.299-7121_299-7120insCCCGGGAAGAGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAA		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	3/20						chr6	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(89): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA18992.hp1 HG03195.hp2 NA18992.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0011 a0001c0001 a0015c0011	a0001c0001t0017 a0015c0011t0132 a0001c0001t0017 a0015c0011t0132	a0001c0001t0017g0025 a0015c0011t0132g0052 a0001c0001t0017g0025 a0015c0011t0132g0052	2	268	0.0075	96	c.-15 others(107): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761902	T T	TTCTTTCT others(89): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0066 a0001c0001t0007g0066	1	358	0.0028	96	c.-15 others(107): Show c.-1535_-1534insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC TCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1101		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761902	T T	TTCTTTCT others(89): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCT CTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0043 a0001c0001t0126g0043	1	358	0.0028	96	c.-15 others(107): Show c.-1535_-1534insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1101		chr19	TogoVar
RSAD1_chr17_50473860_50490974	50476182	C C	CCTGCCCC others(89): Show CCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCC TGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(131): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA18992.hp2 NA18995.hp1 NA19000.hp2 NA19006.hp2 NA19009.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19062.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19089.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0010 a0013 a0014	a0001c0002 a0001c0003 a0001c0006 others(5): Show a0001c0002 a0001c0003 a0001c0006 a0002c0001 a0005c0015 a0010c0012 a0013c0011 a0014c0008	a0001c0002t0001 a0001c0002t0005 a0001c0003t0002 others(9): Show a0001c0002t0001 a0001c0002t0005 a0001c0003t0002 a0001c0003t0004 a0001c0003t0008 a0001c0003t0010 a0001c0006t0001 a0002c0001t0001 a0005c0015t0001 a0010c0012t0002 a0013c0011t0002 a0014c0008t0009	a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0014 others(22): Show a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0005g0002 a0001c0003t0002g0003 a0001c0003t0002g0004 a0001c0003t0002g0019 a0001c0003t0002g0032 a0001c0003t0002g0034 a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0033 a0001c0003t0008g0003 a0001c0003t0010g0039 a0001c0006t0001g0002 a0002c0001t0001g0001 a0005c0015t0001g0001 a0010c0012t0002g0003 a0013c0011t0002g0003 a0014c0008t0009g0051	134	342	0.3918	96	c.-27 others(107): Show c.-2703_-2702insCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTT ACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTAC CTCGCAGCGCGG		RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding					2677		chr17	TogoVar
RTEL1_chr20_63653312_63701245	63693456	T T	TCCACCAC others(89): Show TCCACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCACCTC CACCTCCACCTCCACCACGTCCACCACCTCCACCACCACCTCCACCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0036 a0007c0010t0001g0036	1	41	0.0244	96	c.299 others(113): Show c.2992+178_2992+179insACCTCCACCACCACCACCTCCACCTCCA CCTCCACCTCCACCTCCACCTCCACCTCCACCACGTCCACCACCTCCACC ACCACCTCCACCACCACC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693528	T T	TCCACCTC others(89): Show TCCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCTCCACCTC CACCACCTCCACCTCCACCTTCACCTCCACCTCCACCACGTCCACCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0043 a0003c0006t0001g0043	1	46	0.0217	96	c.299 others(113): Show c.2992+250_2992+251insTCCACCTCCACCACCTCCACCTCCACCA CCTCCACCTCCACCTCCACCACCTCCACCTCCACCTTCACCTCCACCTCC ACCACGTCCACCACCACC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693648	A A	ACCACCAC others(89): Show ACCACCACCACCACCACCTCCACCTCCACCTCCACCACCTCCACCTCCAC CACCACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0017 a0005c0009t0002g0017	1	57	0.0175	96	c.299 others(113): Show c.2992+367_2992+368insACCACCACCACCACCTCCACCTCCACCT CCACCACCTCCACCTCCACCACCACCACCACCACCACCTCCACCACCACC TCCACCACCTCCACCTCC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RUBCN_chr3_197663867_197741904	197715862	T T	TTAATTCT others(89): Show TTAATTCTTTCTTCCCATTATTAATTTGAAGTAAAGATAGTAATAACAAA AGTCTAAATTTAGGGAACAAGATGAAAATTCTAATTCAAAAAGAATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0040 a0010c0011t0040	a0010c0011t0040g0006 a0010c0011t0040g0006	1	184	0.0054	96	c.219 others(113): Show c.219+2019_219+2114dupGATTCTTTTTGAATTAGAATTTTCATCT TGTTCCCTAAATTTAGACTTTTGTTATTACTATCTTTACTTCAAATTAAT AATGGGAAGAAAGAATTA		RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	2/19						chr3	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(89): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0232 a0001c0001t0004g0232	1	219	0.0046	96	c.-58 others(103): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGC GCCCGCCC		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding					41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(89): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0362 a0001c0002t0002g0362	1	219	0.0046	96	c.-58 others(103): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACC CCGCGCCC		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding					41		chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87715251	T T	TATTATAT others(89): Show TATTATATATAATTAATTTATAATAATTATATATAATTAATTTATAATAA TTATATATAATTAATTTATAATAATTATATATAATTAATTTATAATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0186 a0001c0001t0006g0186	1	170	0.0059	96	c.458 others(113): Show c.458+4629_458+4724dupTAATTAATTTATAATAATTATATATAAT TAATTTATAATAATTATATATAATTAATTTATAATAATTATATATAATTA ATTTATAATAATTATATA		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAAGA others(89): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0091 a0002c0003t0003g0091	1	34	0.0294	96	c.241 others(113): Show c.241+1042_241+1043insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA		RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
S1PR4_chr19_3173769_3185332	3175074	C C	CCTCATGG others(89): Show CCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACG CCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGATGCCTGTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	308	0.0032	96	c.-37 others(107): Show c.-3719_-3718insCTCATGGGACGCCTGTGCCCTCATGGGACGCCTG TGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGG GATGCCTGTGTT		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					3694		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175074	C C	CCTCATGG others(89): Show CCTCATGGGATGCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACG CCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGATGCCTGTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	308	0.0032	96	c.-37 others(107): Show c.-3719_-3718insCTCATGGGATGCCTGTGCCCTCATGGGACGCCTG TGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGG GATGCCTGTGTT		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					3694		chr19	TogoVar

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