Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RALYL_chr8_84178274_84926844	84732683	T T	TATATGTG others(45): Show TATATGTGTATATATATATATATATATATATATATATATATATATATACA CAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	82	0.0122	52	c.257 others(71): Show c.257-41895_257-41894insTATGTGTATATATATATATATATATA TATATATATATATATATATACACACA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84732683	T T	TATGTGTA others(45): Show TATGTGTATATATATATATATATATATATATATATATATATATATATACA CAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	82	0.0122	52	c.257 others(71): Show c.257-41895_257-41894insTGTGTATATATATATATATATATATA TATATATATATATATATATACACACA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAP1GAP_chr1_21591221_21674357	21653586	T T	TCCTTCCT others(45): Show TCCTTCCTTCCTCCCTCCCTCCCTCCCTCCTTCCTAAGTAGTAGCAGCAA CAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	372	0.0027	52	c.-14 others(71): Show c.-148-3791_-148-3790insTTGTTGCTGCTACTACTTAGGAAGGA GGGAGGGAGGGAGGGAGGAAGGAAGG	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0365 a0002c0008t0003g0365	1	372	0.0027	52	c.-14 others(71): Show c.-149+8908_-149+8909insAATATATATATATATATATATATATA TATATATATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATATATTT ATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG04228.hp2 HG01081.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0008 a0002c0001t0001g0009 a0001c0003t0001g0008 a0002c0001t0001g0009	2	372	0.0054	52	c.-14 others(71): Show c.-149+8908_-149+8909insAATAAATATATATATATATATATATA TATATATATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP2A_chr13_97429169_97474128	97461980	A A	ATATATAT others(45): Show ATATATATATTTATATATTTATATTTATATATTTATATAGATATTTATAT ATT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	344	0.0029	52	c.315 others(69): Show c.315-2207_315-2156dupTTATATTTATATATTTATATAGATATTT ATATATTTATATATATTTATATAT	RAP2A	ENSG00000125249.7	transcript	ENST00000245304.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
RAPH1_chr2_203428682_203540301	203506752	A A	ATATCTAT others(45): Show ATATCTATATATATATCTATATATATATCTATATATATCTAGATATATAT ATC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0083 a0002c0018t0083	a0002c0018t0083g0253 a0002c0018t0083g0253	1	290	0.0035	52	c.1-1 others(67): Show c.1-11400_1-11399insGATATATATATCTAGATATATATAGATATA TATATAGATATATATATAGATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RARS1_chr5_168481471_168524301	168518071	C C	CTTTTTTT others(45): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	394	0.0025	52	c.187 others(67): Show c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA1_chr5_87262883_87396916	87288036	T T	TACCATAT others(45): Show TACCATATATATACCATATATACACACACCATATATATACCATATATACA CAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03834.hp2 NA18612.hp1 others(2): Show HG02523.hp2 HG03834.hp2 NA18612.hp1 NA18973.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0209 a0001c0001t0002g0002 a0001c0001t0002g0046 others(1): Show a0001c0001t0001g0209 a0001c0001t0002g0002 a0001c0001t0002g0046 a0001c0001t0002g0047	5	282	0.0177	52	c.539 others(71): Show c.539+19059_539+19110dupCCATATATACACACACCATATATATA CCATATATACACACACCATATATATA	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114044051	C C	CCCGCCTC others(45): Show CCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCTCTGAGCCCCC CCG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0015	1	67	0.0149	52	c.278 others(69): Show c.278-2958_278-2957insCGGGGGGGCTCAGAGAGTGAGGCGGGGC GGGGGGGCTCAGCGAGTGAGGCGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099645	G G	GCAGCCCC others(45): Show GCAGCCCCCCCACAGCCCCCCCACAGCAGCCCCCCCCACAGCCCCCCACA GCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0001 a0002c0004t0004g0001	1	67	0.0149	52	c.56- others(69): Show c.56-25809_56-25808insGGCTGTGGGGGGCTGTGGGGGGGGCTGC TGTGGGGGGGCTGTGGGGGGGCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASGEF1C_chr5_180095795_180214211	180169042	G G	GTTCAGTG others(45): Show GTTCAGTGGGAGAGTGGAGTATGCTCAGACTAGCCCAGAACCAGAAAGCT GTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	370	0.0027	52	c.-6- others(69): Show c.-6-31036_-6-30985dupAACAGCTTTCTGGTTCTGGGCTAGTCTG AGCATACTCCACTCTCCCACTGAA	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	1/13			chr5	TogoVar
RB1_chr13_48298751_48486890	48459906	T T	TTTCCTTC others(45): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18939.hp2 NA18945.hp2 others(1): Show HG00323.hp2 NA18939.hp2 NA18945.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0287 a0001c0001t0001g0288 others(1): Show a0001c0001t0001g0269 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289	4	306	0.0131	52	c.210 others(67): Show c.2106+76_2106+77insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBBP8NL_chr20_62405237_62432539	62406703	A A	ACCTCTGT others(45): Show ACCTCTGTCCAGGGCTGACAAGGCCCCAGGTGAACCCAACCCCTTTGTCC TGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02055.hp2 HG02109.hp1 others(4): Show HG01081.hp1 HG02055.hp2 HG02109.hp1 HG02965.hp1 HG02970.hp2 HG03195.hp1 HG03516.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0002 a0007c0007t0002 a0001c0001t0002 a0007c0007t0002	a0001c0001t0002g0072 a0001c0001t0002g0073 a0007c0007t0002g0062 others(4): Show a0001c0001t0002g0072 a0001c0001t0002g0073 a0007c0007t0002g0062 a0007c0007t0002g0130 a0007c0007t0002g0161 a0007c0007t0002g0262 a0007c0007t0002g0263	7	432	0.0162	52	c.41 others(63): Show c.4123_*4174dupCCAGGACAAAGGGGTTGGGTTCACCTGGGGCCTT GTCAGCCCTGGACAGAGG	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding		3533		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6450812	T T	TACATATA others(45): Show TACATATATATATATACATGTATATATATATATACATATATATATGTATA TAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG02738.hp1 others(3): Show HG00609.hp1 HG00741.hp1 HG02738.hp1 HG02976.hp1 HG03490.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0020 a0001c0001t0031 a0001c0002t0028	a0001c0001t0001g0067 a0001c0001t0002g0013 a0001c0001t0005g0058 others(3): Show a0001c0001t0001g0067 a0001c0001t0002g0013 a0001c0001t0005g0058 a0001c0001t0020g0002 a0001c0001t0031g0056 a0001c0002t0028g0031	6	68	0.0882	52	c.-64 others(73): Show c.-64+133756_-64+133757insCATATATATATATACATGTATATA TATATATACATATATATATGTATATACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229786	G G	GGGAGAGA others(45): Show GGGAGAGAGAGGAAGGAAGGAGAGAGAGGAAGGAAGGGAGAGAGAGGGAG GAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0061 a0002c0003t0034g0061	1	68	0.0147	52	c.27+ others(71): Show c.27+177699_27+177700insAAGGAAGGAGAGAGAGGAAGGAAGGG AGAGAGAGGGAGGAAGGAGAGAGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229888	G G	GAGGAAGG others(45): Show GAGGAAGGGAGAGAGAGGGAGGAAGAGGGGAAGGAAGGAAGGGAGAGAGA GGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00609.hp1 others(7): Show HG00140.hp1 HG00280.hp2 HG00609.hp1 HG00609.hp2 HG01099.hp2 HG01192.hp2 HG02738.hp1 HG03831.hp2 NA18994.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0032 a0002c0003t0034	a0001c0001t0001g0025 a0001c0001t0002g0013 a0001c0001t0002g0016 others(7): Show a0001c0001t0001g0025 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0003g0010 a0001c0001t0005g0058 a0001c0001t0015g0045 a0001c0001t0017g0014 a0001c0001t0020g0002 a0001c0001t0032g0068 a0002c0003t0034g0061	10	68	0.1471	52	c.27+ others(71): Show c.27+177814_27+177815insAGGGGAAGGAAGGAAGGGAGAGAGAG GAAGGAAGGGAGAGAGAGGGAGGAAG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504743	A A	ATTTATAT others(45): Show ATTTATATATATATATATTTATATATATATATATATTTATATATATATAT ATT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0032 a0001c0010t0003g0032	1	234	0.0043	52	c.88- others(69): Show c.88-13403_88-13402insTTATATATATATATATTTATATATATAT ATATATTTATATATATATATATTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504775	A A	ATATATAT others(45): Show ATATATATTTATATATATATATATTTATATATATATTTATATATATATAT ATT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19068.hp1 NA19005.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0011 a0001c0001t0001 a0001c0004t0011	a0001c0001t0001g0166 a0001c0004t0011g0203 a0001c0001t0001g0166 a0001c0004t0011g0203	2	234	0.0086	52	c.88- others(69): Show c.88-13365_88-13364insTTATATATATATATATTTATATATATAT TTATATATATATATATTTATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTC TCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0125 a0001c0001t0006g0125	1	154	0.0065	52	c.-66 others(61): Show c.-669_-668insAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBM19_chr12_113817057_113971325	113879446	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	356	0.0028	52	c.255 others(73): Show c.2559-20551_2559-20550insGTATATATATATATATATATATAT ATATATATATATATATATATATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBMS3_chr3_29276071_30015386	29990260	T T	TTAACCAA others(45): Show TTAACCAAGAACATCTGAAATTTGACATCACTGCAGGTATCCAGGACTAC AAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01934.hp2 NA18994.hp1 HG00408.hp1 HG01934.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0001t0029 a0001c0002t0041 a0001c0001t0025 a0001c0001t0029 a0001c0002t0041	a0001c0001t0025g0010 a0001c0001t0029g0116 a0001c0002t0041g0104 a0001c0001t0025g0010 a0001c0001t0029g0116 a0001c0002t0041g0104	3	116	0.0259	52	c.118 others(69): Show c.1180-811_1180-810insATCTGAAATTTGACATCACTGCAGGTAT CCAGGACTACAAATAACCAAGAAC	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29993188	A A	ACTGAGTA others(45): Show ACTGAGTAAAGCCATATGTTATTGTTAATTTAATTGACATAGCCTGTGTG AAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02055.hp1 HG02922.hp1 others(1): Show HG01934.hp1 HG02055.hp1 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0048 a0001c0001t0083 a0001c0001t0015 a0001c0001t0048 a0001c0001t0083	a0001c0001t0015g0029 a0001c0001t0015g0051 a0001c0001t0048g0085 others(1): Show a0001c0001t0015g0029 a0001c0001t0015g0051 a0001c0001t0048g0085 a0001c0001t0083g0019	4	116	0.0345	52	c.130 others(71): Show c.1307+1981_1307+2032dupTGAGTAAAGCCATATGTTATTGTTAA TTTAATTGACATAGCCTGTGTGAATC	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RCC1L_chr7_75037183_75078802	75072155	C C	CATATATA others(45): Show CATATATATATATATATATATATATATATATATATACATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	270	0.0037	52	c.324 others(69): Show c.324+1258_324+1259insATATATATATATATATGTATATATATAT ATATATATATATATATATATATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATA others(45): Show TATATATATTCATATATATATTCATAATATATATTCATATATATATATTC ATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18971.hp2 NA18906.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0278 a0001c0001t0003g0050 a0001c0001t0001g0278 a0001c0001t0003g0050	2	406	0.0049	52	c.657 others(69): Show c.657+2898_657+2899insTATGAATATATATATATGAATATATATT ATGAATATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RELN_chr7_103466789_103994658	103830080	T T	TAAATAAA others(45): Show TAAATAAAATAAAAAAATAAAGTAGACATAAAAATAAAGTAAAAAATAAA GAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp2 others(34): Show HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG01070.hp2 HG01071.hp2 HG01928.hp1 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02293.hp2 HG02523.hp2 HG04228.hp1 HG04228.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18952.hp2 NA18957.hp1 NA18964.hp1 NA18966.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp2 NA18988.hp1 NA18998.hp1 NA19002.hp2 NA19011.hp1 NA19012.hp2 NA19060.hp2 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19076.hp2 NA19080.hp1 NA19085.hp2 NA19086.hp2	a0001 a0002 a0007 others(5): Show a0001 a0002 a0007 a0010 a0020 a0024 a0032 a0033	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0022 a0001c0023 a0001c0038 a0002c0014 a0002c0015 a0002c0021 a0007c0012 a0010c0032 a0010c0061 a0020c0031 a0024c0042 a0032c0058 a0033c0059	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0006t0003 a0001c0007t0001 a0001c0007t0003 a0001c0022t0001 a0001c0023t0001 a0001c0038t0001 a0002c0014t0001 a0002c0015t0003 a0002c0021t0001 a0007c0012t0001 a0010c0032t0001 a0010c0061t0001 a0020c0031t0001 a0024c0042t0001 a0032c0058t0001 a0033c0059t0001	a0001c0001t0001g0090 a0001c0001t0003g0169 a0001c0001t0003g0170 others(34): Show a0001c0001t0001g0090 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0002t0001g0085 a0001c0002t0001g0099 a0001c0003t0001g0093 a0001c0003t0001g0106 a0001c0003t0002g0012 a0001c0003t0003g0171 a0001c0003t0003g0175 a0001c0003t0005g0180 a0001c0004t0001g0065 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0137 a0001c0004t0003g0166 a0001c0004t0005g0179 a0001c0006t0003g0174 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0071 a0001c0007t0001g0080 a0001c0007t0003g0172 a0001c0022t0001g0077 a0001c0023t0001g0103 a0001c0038t0001g0075 a0002c0014t0001g0064 a0002c0015t0003g0173 a0002c0021t0001g0113 a0007c0012t0001g0070 a0007c0012t0001g0096 a0010c0032t0001g0089 a0010c0061t0001g0063 a0020c0031t0001g0054 a0024c0042t0001g0043 a0032c0058t0001g0042 a0033c0059t0001g0060	37	184	0.2011	52	c.473 others(69): Show c.473+3456_473+3457insTTCTTTATTTTTTACTTTATTTTTATGT CTACTTTATTTTTTTATTTTATTT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	3/64			chr7	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(45): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	166	0.0060	52	c.908 others(69): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTT	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(45): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG00735.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0066 a0001c0003t0001g0055 a0001c0001t0001g0066 a0001c0003t0001g0055	2	166	0.0121	52	c.908 others(69): Show c.908-2238_908-2237insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTT	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(45): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02922.hp2 HG02132.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0112 a0001c0002t0001g0024 a0001c0001t0001g0112 a0001c0002t0001g0024	2	300	0.0067	52	c.62- others(69): Show c.62-40071_62-40020dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AAAATATA others(45): Show AAAATATATATATATATATATATATATATATATATATATATATATATATA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0304 a0002c0002t0001g0304	1	408	0.0025	52	c.-28 others(63): Show c.-2894_-2893insAAATATATATATATATATATATATATATATATAT ATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02027.hp2 HG02280.hp2 others(4): Show HG00642.hp1 HG02027.hp2 HG02280.hp2 HG02976.hp1 NA18955.hp2 NA19082.hp2 NA19085.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0009 a0002c0002 a0003c0003 others(1): Show a0001c0009 a0002c0002 a0003c0003 a0008c0012	a0001c0009t0033 a0002c0002t0001 a0002c0002t0007 others(2): Show a0001c0009t0033 a0002c0002t0001 a0002c0002t0007 a0003c0003t0002 a0008c0012t0001	a0001c0009t0033g0088 a0002c0002t0001g0012 a0002c0002t0001g0263 others(4): Show a0001c0009t0033g0088 a0002c0002t0001g0012 a0002c0002t0001g0263 a0002c0002t0007g0272 a0002c0002t0007g0276 a0003c0003t0002g0008 a0008c0012t0001g0091	7	408	0.0172	52	c.-28 others(63): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAT ATATATATATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
RETREG1_chr5_16468053_16621997	16524877	C C	CTGACCTG others(45): Show CTGACCTGCGTCCTCCGGCTCCTGCAGGTGGATGTGCGCGGGGGACACCG TGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02965.hp1 others(2): Show HG02280.hp2 HG02572.hp1 HG02965.hp1 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0009 a0001c0004t0007 a0001c0004t0009	a0001c0004t0007g0013 a0001c0004t0007g0069 a0001c0004t0007g0163 others(2): Show a0001c0004t0007g0013 a0001c0004t0007g0069 a0001c0004t0007g0163 a0001c0004t0007g0241 a0001c0004t0009g0247	5	294	0.0170	52	c.458 others(71): Show c.458+40885_458+40886insTCACGGTGTCCCCCGCGCACATCCAC CTGCAGGAGCCGGAGGACGCAGGTCA	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETREG1_chr5_16468053_16621997	16524885	C C	CGTCCTCC others(45): Show CGTCCTCCGGCTCCTGCAGGTGGATGTGCGTGGGGGACACTGTGATGACC TGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(152): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp1 NA18983.hp2 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19056.hp2 NA19064.hp2 NA19065.hp1 NA19080.hp1 NA19083.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0002t0002 a0001c0002t0004 a0001c0002t0018 a0001c0004t0007 a0001c0004t0009 a0001c0007t0014 a0001c0008t0007 a0002c0003t0005 a0002c0003t0016 a0003c0006t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 others(152): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0003g0022 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0043 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0074 a0001c0001t0003g0082 a0001c0001t0003g0086 a0001c0001t0003g0090 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0136 a0001c0001t0003g0149 a0001c0001t0003g0170 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0193 a0001c0001t0003g0197 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0222 a0001c0001t0003g0227 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0006g0252 a0001c0001t0006g0256 a0001c0001t0006g0268 a0001c0001t0006g0270 a0001c0001t0006g0277 a0001c0001t0006g0286 a0001c0001t0006g0293 a0001c0001t0008g0262 a0001c0001t0008g0271 a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0010g0003 a0001c0001t0010g0154 a0001c0001t0015g0041 a0001c0002t0002g0024 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0050 a0001c0002t0002g0056 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0083 a0001c0002t0002g0110 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0120 a0001c0002t0002g0125 a0001c0002t0002g0141 a0001c0002t0002g0164 a0001c0002t0002g0173 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0201 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0223 a0001c0002t0002g0230 a0001c0002t0002g0233 a0001c0002t0002g0236 a0001c0002t0002g0244 a0001c0002t0004g0250 a0001c0002t0004g0251 a0001c0002t0004g0257 a0001c0002t0004g0260 a0001c0002t0004g0264 a0001c0002t0004g0285 a0001c0002t0004g0287 a0001c0002t0004g0291 a0001c0002t0004g0292 a0001c0002t0004g0294 a0001c0002t0018g0091 a0001c0004t0007g0008 a0001c0004t0007g0021 a0001c0004t0007g0071 a0001c0004t0007g0229 a0001c0004t0009g0248 a0001c0004t0009g0274 a0001c0007t0014g0169 a0001c0008t0007g0231 a0002c0003t0005g0009 a0002c0003t0005g0226 a0002c0003t0005g0243 a0002c0003t0016g0020 a0003c0006t0001g0005	155	294	0.5272	52	c.458 others(71): Show c.458+40877_458+40878insACAGGTCATCACAGTGTCCCCCACGC ACATCCACCTGCAGGAGCCGGAGGAC	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETREG1_chr5_16468053_16621997	16524885	C C	CGTCCTCC others(45): Show CGTCCTCCGGCTCCTGCAGGTGGATGTGTGTGGGGGACACTGTGATGACC TGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0267 a0001c0001t0006g0267	1	294	0.0034	52	c.458 others(71): Show c.458+40877_458+40878insACAGGTCATCACAGTGTCCCCCACAC ACATCCACCTGCAGGAGCCGGAGGAC	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETREG1_chr5_16468053_16621997	16524913	C C	CGTGGGGG others(45): Show CGTGGGGGACACTGTGATGACCTGTGTCCTCCGGCTCCTGCAGGTGGATG TGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	294	0.0034	52	c.458 others(71): Show c.458+40849_458+40850insACACATCCACCTGCAGGAGCCGGAGG ACACAGGTCATCACAGTGTCCCCCAC	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RFC2_chr7_74226502_74259399	74256911	G G	GAAGCACA others(45): Show GAAGCACAACACACTTAAAAAAAAAAAAAAAGAAAAAAAAAAAAATAAAA AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	326	0.0031	52	c.-25 others(63): Show c.-2529_-2528insTTTTTTTATTTTTTTTTTTTTCTTTTTTTTTTTT TTTAAGTGTGTTGTGCTT	RFC2	ENSG00000049541.11	transcript	ENST00000055077.8	protein_coding		2513		chr7	TogoVar
RFFL_chr17_35000990_35068707	35017206	A A	AAGCAAGG others(45): Show AAGCAAGGAAAGAACAAGACTTTAACAGCAGGACCACAAGCCTGCCCTCC GGC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19074.hp1 NA18966.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0287 a0001c0001t0002g0228 a0001c0001t0002g0287	2	372	0.0054	52	c.675 others(67): Show c.675+265_675+316dupGCCGGAGGGCAGGCTTGTGGTCCTGCTGTT AAAGTCTTGTTCTTTCCTTGCT	RFFL	ENSG00000092871.17	transcript	ENST00000394597.7	protein_coding	4/6			chr17	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(45): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCT CTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	388	0.0026	52	c.207 others(67): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCTCTCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320544	A A	AGGTGGGA others(45): Show AGGTGGGATGACCTCTTTGGGGGTAGGTGAGATGACCTCTTTCTTTGGGG GTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG04199.hp1 HG02602.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0010 a0001c0002t0007 a0001c0002t0010	a0001c0002t0007g0219 a0001c0002t0010g0152 a0001c0002t0007g0219 a0001c0002t0010g0152	2	388	0.0052	52	c.60 others(63): Show c.6019_*6020insGGTGGGATGACCTCTTTGGGGGTAGGTGAGATGA CCTCTTTCTTTGGGGGTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4521		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320644	T T	TTCTTTGG others(45): Show TTCTTTGGGGGTAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATG ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02080.hp2 NA18950.hp1 others(4): Show HG00408.hp1 HG02080.hp2 NA18950.hp1 NA18967.hp1 NA18974.hp2 NA19063.hp2 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0062 a0001c0002t0002g0075 a0001c0002t0002g0095 others(4): Show a0001c0002t0002g0062 a0001c0002t0002g0075 a0001c0002t0002g0095 a0001c0002t0004g0299 a0001c0002t0004g0325 a0001c0002t0004g0347 a0001c0002t0004g0349	7	388	0.0180	52	c.61 others(63): Show c.6119_*6120insTCTTTGGGGGTAGGTGGGATGACCTCTTTCTTTG GGGGTAGGTGGGATGACC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4621		chr12	TogoVar
RFTN1_chr3_16310845_16518699	16403872	A A	ATATATTT others(45): Show ATATATTTTATATATATTTTATATATAATATATAATATATATTTTATATA TAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0139 a0002c0003t0003g0139	1	268	0.0037	52	c.441 others(69): Show c.441+5502_441+5503insATATATATAAAATATATATTATATATTA TATATAAAATATATATAAAATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16403907	T T	TTTTATAT others(45): Show TTTTATATATAATATATATTATATATTTTATATATAATATATAATATATA TTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01069.hp1 others(21): Show HG00423.hp2 HG00438.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG02976.hp2 HG03041.hp2 NA18945.hp1 NA18946.hp1 NA18953.hp1 NA18955.hp2 NA18962.hp1 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18992.hp2 NA18994.hp1 NA19007.hp1 NA19066.hp2 NA19079.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0002c0003t0004 a0002c0003t0006 a0002c0003t0009	a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0125 others(21): Show a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0001t0001g0191 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0256 a0001c0002t0002g0010 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0078 a0001c0002t0002g0148 a0001c0002t0002g0205 a0001c0002t0005g0058 a0001c0002t0005g0128 a0001c0002t0005g0143 a0001c0002t0005g0237 a0002c0003t0004g0099 a0002c0003t0006g0173 a0002c0003t0009g0103	24	268	0.0896	52	c.441 others(69): Show c.441+5467_441+5468insTAATATATATTATATATTATATATAAAA TATATAATATATATTATATATAAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(45): Show TATATATATATATATATACACACACACACACACACACACACACACACACA CAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0229 a0001c0002t0002g0229	1	268	0.0037	52	c.333 others(69): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(45): Show TATATATATATATATATATACACACACACACACACACACACACACACACA CAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18986.hp2 HG01261.hp2 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0008 a0002c0003t0003 a0001c0002t0008 a0002c0003t0003	a0001c0002t0008g0182 a0002c0003t0003g0049 a0001c0002t0008g0182 a0002c0003t0003g0049	2	268	0.0075	52	c.333 others(69): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(45): Show TATATATATATATATATATATACACACACACACACACACACACACACACA CAC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	268	0.0037	52	c.333 others(69): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATATATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(45): Show TATATATATATATATATATATATACACACACACACACACACACACACACA CAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19070.hp1 NA18966.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0077 a0001c0002t0008g0152 a0001c0002t0002g0077 a0001c0002t0008g0152	2	268	0.0075	52	c.333 others(69): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(45): Show TATATATATATATATATATATATATACACACACACACACACACACACACA CAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0197 a0002c0003t0003g0262 a0002c0003t0003g0197 a0002c0003t0003g0262	2	268	0.0075	52	c.333 others(69): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATATATATATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFX3_chr9_3213297_3531001	3366693	C C	CCTTTCTT others(45): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 NA19002.hp2 HG00438.hp1 HG00741.hp2 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0030 a0002c0006t0001 a0001c0001t0001 a0001c0001t0030 a0002c0006t0001	a0001c0001t0001g0140 a0001c0001t0030g0098 a0002c0006t0001g0173 a0001c0001t0001g0140 a0001c0001t0030g0098 a0002c0006t0001g0173	3	196	0.0153	52	c.118 others(71): Show c.118-19981_118-19930dupAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAG	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3467137	T T	TGTATATA others(45): Show TGTATATACATATATATTATGTATATATGTATATACATATATTATGTATA TAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG03139.hp2 others(1): Show HG02723.hp1 HG03098.hp1 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0069 a0001c0001t0014 a0001c0001t0017 a0001c0001t0069	a0001c0001t0014g0088 a0001c0001t0017g0085 a0001c0001t0017g0086 others(1): Show a0001c0001t0014g0088 a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0069g0189	4	196	0.0204	52	c.-9+ others(69): Show c.-9+58609_-9+58610insGTATATACATAATATATGTATATACATA TATACATAATATATATGTATATAC	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGL3_chr19_11389060_11424314	11414502	T T	TATATATA others(45): Show TATATATATATATACACCTTCATATATATATATATATATATATATACACC TTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0325 a0001c0003t0001g0325	1	402	0.0025	52	c.637 others(69): Show c.637+1434_637+1435insGAAGGTGTATATATATATATATATATAT ATATGAAGGTGTATATATATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar

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