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 genename

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Snpeff haplotype class

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
PTPN18_chr2_130351056_130380405	130361512	C C	CTCTTTCT others(39): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0221 a0002c0004t0009g0221	1	380	0.0026	46	c.414 others(63): Show c.414+1893_414+1894insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGGTGAGA others(39): Show GGGTGAGAGGGGGCGGGGGAGGGGGGGTGAGAGGGGGCGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0084 a0002c0003t0001g0084	1	332	0.0030	46	c.47 others(57): Show c.4709_*4710insGGTGAGAGGGGGCGGGGGAGGGGGGGTGAGAGGG GGCGGGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGTGAGAG others(39): Show GGTGAGAGGGGGGCGGGGGAGGGGGGGTGAGAGGGGGCGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	332	0.0030	46	c.47 others(57): Show c.4709_*4710insGTGAGAGGGGGGCGGGGGAGGGGGGGTGAGAGGG GGCGGGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGTGAGAG others(39): Show GGTGAGAGGGGGGCGGGGGAGGGGGGTGAGAGGGGGGCGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	332	0.0030	46	c.47 others(57): Show c.4709_*4710insGTGAGAGGGGGGCGGGGGAGGGGGGTGAGAGGGG GGCGGGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar
PTPRD_chr9_8309246_10618002	10512032	A A	ATACGTGT others(39): Show ATACGTGTGTGTATATATATATATATACGTGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03139.hp1 NA19030.hp1 others(1): Show HG01243.hp1 HG03139.hp1 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0024 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0001t0024 a0001c0003t0007 a0001c0004t0003	a0001c0001t0001g0004 a0001c0001t0024g0032 a0001c0003t0007g0029 others(1): Show a0001c0001t0001g0004 a0001c0001t0024g0032 a0001c0003t0007g0029 a0001c0004t0003g0001	4	34	0.1177	46	c.-60 others(69): Show c.-600+100365_-600+100366insCATATATATATACACACACGTA TATATATATATATACACACACGTA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRK_chr6_127963785_128525599	128524021	A A	ATATATCT others(39): Show ATATATCTCTATATATATATATCTATATATATATATCTATATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03225.hp2 HG02559.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0001 a0001c0014t0007 a0001c0004t0001 a0001c0014t0007	a0001c0004t0001g0006 a0001c0014t0007g0005 a0001c0004t0001g0006 a0001c0014t0007g0005	2	53	0.0377	46	c.-36 others(57): Show c.-3664_-3663insGATAGATATAGATATATATATATAGATATATATA TATAGAGATATA	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding		3423		chr6	TogoVar
PTPRK_chr6_127963785_128525599	128524021	A A	ATATATCT others(39): Show ATATATCTCTCTATCTATCTATCTATATATATATATCTATATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0001 a0001c0007t0006g0001	1	53	0.0189	46	c.-36 others(57): Show c.-3664_-3663insGATAGATATAGATATATATATATAGATAGATAGA TAGAGAGATATA	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding		3423		chr6	TogoVar
PTPRR_chr12_70633079_70925738	70865307	A A	AGACTAAT others(39): Show AGACTAATACAGATGCTAATACTAATACTAATACTGTTTGCTTTATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(31): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00609.hp1 HG00621.hp2 HG01081.hp2 HG01167.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02083.hp1 HG02135.hp2 HG02683.hp2 HG03831.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18953.hp2 NA18957.hp1 NA18968.hp1 NA18975.hp2 NA19054.hp2 NA19058.hp1 NA19066.hp2 NA19078.hp1 NA19085.hp1 NA19088.hp2 NA20752.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0014 a0016	a0001c0001 a0002c0002 a0004c0005 others(3): Show a0001c0001 a0002c0002 a0004c0005 a0006c0007 a0014c0017 a0016c0015	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0004c0005t0001 a0006c0007t0001 a0014c0017t0001 a0016c0015t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0054 others(31): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0197 a0002c0002t0001g0060 a0002c0002t0001g0087 a0002c0002t0003g0162 a0004c0005t0001g0150 a0006c0007t0001g0074 a0014c0017t0001g0052 a0016c0015t0001g0191	34	204	0.1667	46	c.357 others(65): Show c.357+27371_357+27372insGATAAAGCAAACAGTATTAGTATTAG TATTAGCATCTGTATTAGTC	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRT_chr20_42067756_43194906	42086749	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp2 HG02622.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0031 a0002c0013 a0001c0031 a0002c0013	a0001c0031t0001 a0002c0013t0001 a0001c0031t0001 a0002c0013t0001	a0001c0031t0001g0056 a0002c0013t0001g0016 a0001c0031t0001g0056 a0002c0013t0001g0016	2	62	0.0323	46	c.384 others(63): Show c.3847-897_3847-896insATATATATATATATATATATATATATAT ATATATATATATATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42086751	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0018 a0002c0009t0001g0018	1	62	0.0161	46	c.384 others(63): Show c.3847-899_3847-898insATATATATATATATATATATATATATAT ATATATATATATATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	122057966	G G	GTATATAT others(39): Show GTATATATATACATATATATATATATATACATATATATATATATACA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0265 a0004c0005t0001g0265	1	312	0.0032	46	c.652 others(63): Show c.6529-833_6529-832insATATATATACATATATATATATATATAC ATATATATATATATACAT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	27/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PVR_chr19_44638910_44671162	44665681	C C	CTTTTTTA others(39): Show CTTTTTTATTTGTTTTTATTTTTCTTTTTTTATTTTCTTTGCCTGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0099 a0008c0009t0099	a0008c0009t0099g0087 a0008c0009t0099g0087	1	412	0.0024	46	c.38 others(57): Show c.3870_*3871insTTTTTTATTTGTTTTTATTTTTCTTTTTTTATTT TCTTTGCCTGTT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	8/8	3871		chr19	TogoVar
PWWP2A_chr5_160086339_160124450	160109780	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	384	0.0026	46	c.584 others(63): Show c.584+9024_584+9025insTATTATATTATTTTATATATATATATAT ATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109782	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18970.hp1 NA18979.hp2 others(5): Show HG02071.hp1 NA18970.hp1 NA18979.hp2 NA18981.hp1 NA18986.hp1 NA18993.hp2 NA19058.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0089 a0001c0001t0007g0090 others(4): Show a0001c0001t0007g0002 a0001c0001t0007g0089 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0007g0093 a0001c0001t0007g0132 a0001c0001t0007g0133	8	384	0.0208	46	c.584 others(63): Show c.584+9022_584+9023insTATTATATTATTTTATATATATATATAT ATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109786	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	384	0.0026	46	c.584 others(63): Show c.584+9018_584+9019insTATTATATTATTTTATATATATATATAT ATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109790	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	384	0.0026	46	c.584 others(63): Show c.584+9014_584+9015insTATTATATTATTTTATATATATATATAT ATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PXDNL_chr8_51314577_51814445	51718979	T T	TGGGAGGG others(39): Show TGGGAGGGAGGCGGGGGGCAGCCCCCGATCGGCCAGCCGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18959.hp2 NA18966.hp2 others(1): Show HG00438.hp2 NA18959.hp2 NA18966.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0104 a0002c0002t0002g0109 a0002c0002t0002g0112 others(1): Show a0002c0002t0002g0104 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0117	4	122	0.0328	46	c.165 others(65): Show c.165-64265_165-64220dupGGACGGGGCGGCTGGCCGATCGGGGG CTGCCCCCCGCCTCCCTCCC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATATATC others(39): Show TATATATCATATATATATAACATATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03710.hp1 HG01496.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0216 a0001c0001t0001g0043 a0001c0001t0001g0216	2	442	0.0045	46	c.120 others(63): Show c.120+2325_120+2326insCATATATATATAACATATATATATATAA CATATATATAACATATAT	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB27A_chr15_55197966_55294813	55241612	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0296 a0001c0001t0003g0296	1	320	0.0031	46	c.-22 others(63): Show c.-22-6657_-22-6656insCACATATATATATATATATATATATATA TATATATATATATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55241612	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0288 a0001c0001t0028g0288	1	320	0.0031	46	c.-22 others(63): Show c.-22-6657_-22-6656insCACACATATATATATATATATATATATA TATATATATATATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55241624	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03516.hp1 HG02615.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0019 a0001c0001t0013 a0001c0001t0019	a0001c0001t0013g0270 a0001c0001t0019g0055 a0001c0001t0013g0270 a0001c0001t0019g0055	2	320	0.0063	46	c.-22 others(63): Show c.-22-6669_-22-6668insCACACATATATATATATATATATATATA TATATATATATATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55241624	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0047 a0001c0001t0024g0047	1	320	0.0031	46	c.-22 others(63): Show c.-22-6669_-22-6668insCACACACATATATATATATATATATATA TATATATATATATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB3C_chr5_58578075_58864394	58612514	G G	GTATATAT others(39): Show GTATATATATATATATATGTATATATATATATATATGTATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	220	0.0046	46	c.25- others(61): Show c.25-5128_25-5127insATATATATATATATATGTATATATATATAT ATATGTATATATATAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB40C_chr16_585066_634268	631784	C C	CATCCACT others(39): Show CATCCACTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	350	0.0029	46	c.41 others(57): Show c.4162_*4163insATCCACTTCTCCCACCCCATCACTGCCTCTCCTT CCATCCTCTCCT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2517		chr16	TogoVar
RAB44_chr6_36692826_36738184	36715102	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp2 HG02109.hp2 NA18906.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0015 a0007c0011t0002g0015	2	428	0.0047	46	c.320 others(61): Show c.320-361_320-360insATATATATATATATATATATATATATATAT ATATATATATATATAT	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACACACA others(39): Show TACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	398	0.0025	46	c.219 others(61): Show c.219-407_219-406insACACACACACACACACACACACACACACAC ACACACACACACACAC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(39): Show TACATACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	398	0.0025	46	c.219 others(61): Show c.219-442_219-441insTACACACACACACACACACACACACACACA CACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(39): Show TACATACATACATATACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18943.hp1 NA18977.hp2 others(1): Show HG00558.hp2 NA18943.hp1 NA18977.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0235 a0001c0001t0001g0013 a0001c0001t0001g0235	4	398	0.0101	46	c.219 others(61): Show c.219-442_219-441insTACATACATATACACACACACACACACACA CACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(39): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01167.hp2 others(19): Show HG01074.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG02074.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03516.hp2 HG03831.hp1 HG06807.hp1 NA18963.hp2 NA18994.hp1 NA19007.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021	a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0224 others(19): Show a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0239 a0001c0001t0002g0252 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0307 a0001c0001t0005g0311 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0011g0241 a0001c0001t0012g0100 a0001c0001t0012g0101 a0001c0001t0021g0318	22	354	0.0622	46	c.496 others(63): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGACTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	354	0.0028	46	c.71- others(61): Show c.71-8482_71-8481insTTATATATATATATATATATATATATATAT ATATATATATATATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(39): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	314	0.0032	46	c.53+ others(59): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATACACATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02109.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0148 a0001c0001t0005g0001 a0001c0001t0005g0148	2	272	0.0074	46	c.171 others(67): Show c.1710+21891_1710+21892insTATATATATATATATATATATATA TATATATATATACACATATACA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550983	C C	CATATATA others(39): Show CATATATATATACATATGTATATATACATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19043.hp2 HG02717.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0148 a0001c0001t0013g0152 a0001c0001t0005g0148 a0001c0001t0013g0152	2	272	0.0074	46	c.171 others(67): Show c.1711-86381_1711-86380insCATATGTATATATACATATATATA TACATATATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550983	C C	CATATATA others(39): Show CATATATATATACATATGTATATATACATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02109.hp2 others(2): Show HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02970.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0002c0003t0006 a0001c0001t0002 a0001c0001t0005 a0002c0003t0006	a0001c0001t0002g0145 a0001c0001t0005g0001 a0001c0001t0005g0141 others(2): Show a0001c0001t0002g0145 a0001c0001t0005g0001 a0001c0001t0005g0141 a0001c0001t0005g0151 a0002c0003t0006g0083	5	272	0.0184	46	c.171 others(67): Show c.1711-86381_1711-86380insCATATGTATATATACATATATATA TATACATATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833449	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19057.hp2 NA19060.hp1 NA18999.hp2 NA19057.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0120	3	272	0.0110	46	c.234 others(67): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174937619	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19080.hp1 NA20905.hp1 NA19011.hp2 NA19080.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0095 a0001c0001t0002g0114 a0001c0001t0002g0118	3	272	0.0110	46	c.234 others(67): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT ATATATATATATATATATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAC2_chr22_37220270_37249269	37227519	C C	CCCTCCCA others(39): Show CCCTCCCACGCCATACACCCCCTCCCACGCCATACATCCCTCCCACG	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	448	0.0022	46	c.449 others(61): Show c.449-717_449-716insCGTGGGAGGGATGTATGGCGTGGGAGGGGG TGTATGGCGTGGGAGG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAD50_chr5_132551977_132651349	132619837	T T	TCTCTCTC others(39): Show TCTCTCTCTCTATATATATATATATAAAGATATATATATATATAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0033 a0001c0001t0020g0033	1	276	0.0036	46	c.338 others(65): Show c.3389+1543_3389+1544insCTCTCTCTCTATATATATATATATAA AGATATATATATATATAAAG	RAD50	ENSG00000113522.14	transcript	ENST00000378823.8	protein_coding	21/24			chr5	TogoVar
RAD51B_chr14_67814779_68483093	68260298	C C	CGTGTGTG others(39): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	84	0.0119	46	c.757 others(65): Show c.757-31565_757-31564insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTG	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51B_chr14_67814779_68483093	68260318	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	84	0.0119	46	c.757 others(65): Show c.757-31565_757-31564insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGGAGGGGGGGGGG	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51C_chr17_58687602_58740611	58726609	T T	TATAAGTA others(39): Show TATAAGTATAGATGTATATACATATGTATATATGTGTATACATATAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	330	0.0030	46	c.965 others(63): Show c.965+2511_965+2512insAAGTATAGATGTATATACATATGTATAT ATGTGTATACATATAGAT	RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RALGPS1_chr9_126909782_127228166	127188832	T T	TTAAAAAA others(39): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0249 a0001c0001t0016g0249	1	276	0.0036	46	c.911 others(63): Show c.911-6259_911-6258insTAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18			chr9	TogoVar
RALYL_chr8_84178274_84926844	84342277	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02630.hp1 HG01081.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0006 a0001c0001t0008g0028 a0001c0001t0001g0006 a0001c0001t0008g0028	2	82	0.0244	46	c.-24 others(67): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATATATATATATATA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84342295	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	82	0.0122	46	c.-24 others(67): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATATATATATATAAA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RANBP3_chr19_5911139_5983140	5937056	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	322	0.0031	46	c.407 others(63): Show c.407-3578_407-3577insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding	5/16			chr19	TogoVar
RANBP9_chr6_13616498_13716835	13705875	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	360	0.0028	46	c.571 others(63): Show c.571+5059_571+5060insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	1/13			chr6	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0010 a0002c0001t0001g0010	1	372	0.0027	46	c.-14 others(65): Show c.-149+8908_-149+8909insAATATATATATATATATATATATATA TATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02300.hp1 NA18522.hp2 others(2): Show HG00639.hp1 HG02300.hp1 NA18522.hp2 NA18964.hp1 NA19003.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0010 a0002c0001 a0003c0010	a0002c0001t0001 a0002c0001t0004 a0002c0001t0011 others(1): Show a0002c0001t0001 a0002c0001t0004 a0002c0001t0011 a0003c0010t0001	a0002c0001t0001g0031 a0002c0001t0004g0006 a0002c0001t0004g0007 others(2): Show a0002c0001t0001g0031 a0002c0001t0004g0006 a0002c0001t0004g0007 a0002c0001t0011g0120 a0003c0010t0001g0054	5	372	0.0134	46	c.-14 others(65): Show c.-149+8908_-149+8909insAATAAATATATATATATATATATATA TATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0013 a0002c0001t0001g0013	1	372	0.0027	46	c.-14 others(65): Show c.-149+8908_-149+8909insAATAAATAAATATATATATATATATA TATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(39): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0202 a0001c0003t0001g0202	1	372	0.0027	46	c.-14 others(65): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar

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