Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
RACK1_chr5_181231897_181248906	181241426	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	430	0.0023	23	c.429 others(36): Show c.429+65_429+66insTTTTTTTTTTTTTTTTTTTTTTT	RACK1	ENSG00000204628.12	transcript	ENST00000512805.6	protein_coding	3/7			chr5	TogoVar
RAD21L1_chr20_1221044_1260876	1232334	A A	AATAGAGG others(16): Show AATAGAGGAGTGACGGGATCTGAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	364	0.0028	23	c.368 others(38): Show c.368+716_368+738dupATAGAGGAGTGACGGGATCTGAC	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAD23B_chr9_107278279_107337189	107325313	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0029 a0001c0001t0008g0029	1	346	0.0029	23	c.111 others(40): Show c.1116+315_1116+337dupAAAAAAAAAAAAAAAAAAAAAAA	RAD23B	ENSG00000119318.13	transcript	ENST00000358015.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RAD51B_chr14_67814779_68483093	68331367	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp2 HG03041.hp2 others(1): Show HG02965.hp1 HG02970.hp2 HG03041.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0049 a0001c0001t0001g0077 a0002c0002t0001g0039 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0077 a0002c0002t0001g0039 a0002c0002t0001g0040	4	84	0.0476	23	c.853 others(42): Show c.853+39405_853+39406insAAAAAAAAAAAAAAAAAAAAAAA	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51D_chr17_35087221_35124860	35116013	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA20300.hp2 NA18991.hp2 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0010 a0001c0002 a0007c0010	a0001c0002t0003 a0007c0010t0002 a0001c0002t0003 a0007c0010t0002	a0001c0002t0003g0321 a0007c0010t0002g0265 a0001c0002t0003g0321 a0007c0010t0002g0265	2	416	0.0048	23	c.263 others(40): Show c.263+2487_263+2488insTTTCTTTCTTTCTTTCTTTCTTT	RAD51D	ENSG00000185379.21	transcript	ENST00000345365.11	protein_coding	3/9			chr17	TogoVar
RAD52_chr12_906736_954694	907024	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18992.hp2 NA19009.hp2 others(1): Show NA18981.hp2 NA18992.hp2 NA19009.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0001 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0122 a0001c0001t0001g0170 a0001c0001t0007g0269 others(1): Show a0001c0001t0001g0122 a0001c0001t0001g0170 a0001c0001t0007g0269 a0001c0001t0009g0175	4	400	0.0100	23	c.63 others(34): Show c.6366_*6367insTTTTTTTTTTTTTTTTTTTTTTT	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		4711		chr12	TogoVar
RAD54L2_chr3_51533719_51673660	51626436	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG04199.hp2 HG00597.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0051 a0001c0001t0004g0080 a0001c0001t0001g0051 a0001c0001t0004g0080	2	276	0.0073	23	c.140 others(40): Show c.140-1113_140-1091dupTTTTTTTTTTTTTTTTTTTTTTT	RAD54L2	ENSG00000164080.14	transcript	ENST00000684192.1	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAD54L2_chr3_51533719_51673660	51671402	C C	CCCGGGCC others(16): Show CCCGGGCCGCTCTTTGCATCTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0230 a0001c0001t0005g0230	1	276	0.0036	23	c.79 others(34): Show c.7982_*7983insCCGGGCCGCTCTTTGCATCTTGT	RAD54L2	ENSG00000164080.14	transcript	ENST00000684192.1	protein_coding		2743		chr3	TogoVar
RADIL_chr7_4792055_4888716	4807770	T T	TCTCTCCC others(16): Show TCTCTCCCCTTCCTCCTCCGTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp1 HG01496.hp2 others(5): Show HG01081.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG02630.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2	a0006 a0018 a0019 a0006 a0018 a0019	a0006c0010 a0018c0059 a0019c0060 a0006c0010 a0018c0059 a0019c0060	a0006c0010t0007 a0006c0010t0023 a0018c0059t0038 others(1): Show a0006c0010t0007 a0006c0010t0023 a0018c0059t0038 a0019c0060t0007	a0006c0010t0007g0016 a0006c0010t0007g0100 a0006c0010t0007g0101 others(5): Show a0006c0010t0007g0016 a0006c0010t0007g0100 a0006c0010t0007g0101 a0006c0010t0007g0146 a0006c0010t0023g0124 a0006c0010t0023g0129 a0018c0059t0038g0109 a0019c0060t0007g0017	8	292	0.0274	23	c.214 others(42): Show c.2140-2077_2140-2055dupGAGACGGAGGAGGAAGGGGAGAG	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14			chr7	TogoVar
RAE1_chr20_57346255_57384202	57350898	C C	CGGGGGGA others(16): Show CGGGGGGACGGGGGCGGGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02015.hp2 HG00558.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	2	342	0.0059	23	c.-53 others(32): Show c.-532_-531insGGGGGGACGGGGGCGGGGGGCGG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		356		chr20	TogoVar
RAE1_chr20_57346255_57384202	57350944	G G	GGGGGGGC others(16): Show GGGGGGGCGGCGCGGGGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03516.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0008 a0001c0002t0006g0125 a0001c0002t0006g0008 a0001c0002t0006g0125	2	342	0.0059	23	c.-48 others(32): Show c.-486_-485insGGGGGGCGGCGCGGGGGGGCGGA	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		310		chr20	TogoVar
RAF1_chr3_12578601_12669117	12598725	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	262	0.0038	23	c.110 others(40): Show c.1108+943_1108+965dupTTTTTTTTTTTTTTTTTTTTTTT	RAF1	ENSG00000132155.14	transcript	ENST00000251849.9	protein_coding	10/16			chr3	TogoVar
RAI14_chr5_34651328_34837612	34695525	T T	TAGCTAGT others(16): Show TAGCTAGTCCAAACAGTATACACC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02451.hp2 HG03098.hp2 others(1): Show HG01074.hp1 HG02451.hp2 HG03098.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0009 a0001c0001 a0002c0002 a0002c0009	a0001c0001t0001 a0002c0002t0002 a0002c0009t0003 a0001c0001t0001 a0002c0002t0002 a0002c0009t0003	a0001c0001t0001g0015 a0001c0001t0001g0111 a0002c0002t0002g0253 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0111 a0002c0002t0002g0253 a0002c0009t0003g0104	4	254	0.0158	23	c.36+ others(38): Show c.36+8570_36+8571insAGCTAGTCCAAACAGTATACACC	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	2/17			chr5	TogoVar
RAI14_chr5_34651328_34837612	34698107	T T	TCTCCCCC others(16): Show TCTCCCCCCTCCCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	254	0.0039	23	c.36+ others(40): Show c.36+11168_36+11190dupCCCCTCCCCTCCCCCCTCCCCTC	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RALGAPA1_chr14_35533356_35814295	35541040	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01106.hp2 others(6): Show HG00438.hp2 HG00738.hp2 HG01106.hp2 HG01109.hp2 HG03540.hp1 HG04228.hp1 NA18956.hp1 NA18991.hp2 NA19005.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0005 a0001c0002 a0001c0003 a0003c0005	a0001c0002t0001 a0001c0003t0001 a0003c0005t0001 a0001c0002t0001 a0001c0003t0001 a0003c0005t0001	a0001c0002t0001g0138 a0001c0002t0001g0150 a0001c0002t0001g0157 others(6): Show a0001c0002t0001g0138 a0001c0002t0001g0150 a0001c0002t0001g0157 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0003t0001g0212 a0001c0003t0001g0235 a0001c0003t0001g0238 a0003c0005t0001g0257	9	272	0.0331	23	c.24 others(40): Show c.24-1373_*24-1351dupAAAAAAAAAAAAAAAAAAAAAAA	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding	41/41			chr14	TogoVar
RALGAPA1_chr14_35533356_35814295	35811776	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02965.hp2 NA20300.hp2 HG02922.hp2 HG02965.hp2 NA20300.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0001 a0007c0009 a0001c0002 a0002c0001 a0007c0009	a0001c0002t0001 a0002c0001t0001 a0007c0009t0001 a0001c0002t0001 a0002c0001t0001 a0007c0009t0001	a0001c0002t0001g0115 a0002c0001t0001g0071 a0007c0009t0001g0134 a0001c0002t0001g0115 a0002c0001t0001g0071 a0007c0009t0001g0134	3	272	0.0110	23	c.-29 others(34): Show c.-2942_-2941insATATATATATATATATATATATA	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding		2482		chr14	TogoVar
RALGPS1_chr9_126909782_127228166	126958142	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18950.hp1 HG04199.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0085 a0002c0002t0004g0092 a0002c0002t0004g0085 a0002c0002t0004g0092	2	276	0.0073	23	c.-65 others(40): Show c.-65-4082_-65-4081insAAATATATATATATATATATATA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
RALGPS1_chr9_126909782_127228166	126958142	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0083 a0002c0002t0004g0083	1	276	0.0036	23	c.-65 others(40): Show c.-65-4083_-65-4082insTATATATATATATATATATATAT	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	1/18			chr9	TogoVar
RALGPS1_chr9_126909782_127228166	127188832	T T	TTAAAAAA others(16): Show TTAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01168.hp1 NA18961.hp2 HG00423.hp2 HG01168.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0003 a0001c0001t0001g0265 a0001c0001t0020g0274 a0001c0001t0001g0003 a0001c0001t0001g0265 a0001c0001t0020g0274	3	276	0.0109	23	c.911 others(40): Show c.911-6259_911-6258insTAAAAAAAAAAAAAAAAAAAAAA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18			chr9	TogoVar
RALYL_chr8_84178274_84926844	84223181	T T	TTCCCTTC others(16): Show TTCCCTTCCCTTCCCTTCCATTCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	82	0.0122	23	c.-24 others(42): Show c.-24+38775_-24+38776insATTCCTCCCTTCCCTTCCCTTCC	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84735841	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	82	0.0122	23	c.257 others(42): Show c.257-38730_257-38729insGAGAGAGAGAGAGACGAGAGAGA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RANBP10_chr16_67718070_67811560	67785731	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp1 HG01346.hp2 others(3): Show HG00438.hp2 HG00741.hp1 HG01346.hp2 HG02965.hp2 HG03139.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0038 a0001c0001t0002g0028 a0001c0001t0002g0043 others(3): Show a0001c0001t0001g0038 a0001c0001t0002g0028 a0001c0001t0002g0043 a0001c0001t0003g0047 a0001c0001t0005g0083 a0001c0001t0005g0087	6	152	0.0395	23	c.348 others(42): Show c.348-13646_348-13645insTTTTTTTTTTTTTTTTTTTTTTT	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13			chr16	TogoVar
RANBP3_chr19_5911139_5983140	5937056	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18945.hp1 HG00609.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0131 a0001c0001t0001g0102 a0001c0001t0001g0131	2	322	0.0062	23	c.407 others(40): Show c.407-3600_407-3578dupTTTTTTTTTTTTTTTTTTTTTTT	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding	5/16			chr19	TogoVar
RANBP9_chr6_13616498_13716835	13705868	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02109.hp1 HG02155.hp1 others(3): Show HG01516.hp1 HG02109.hp1 HG02155.hp1 HG03195.hp1 NA18972.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(3): Show a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0002t0001g0004 a0001c0002t0001g0050 a0001c0002t0002g0065	6	360	0.0167	23	c.571 others(40): Show c.571+5066_571+5067insTTTTTTTTTTTTTTTTTTTTTTT	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	1/13			chr6	TogoVar
RAP1B_chr12_68605899_68676901	68606097	C C	CGGGGGGG others(16): Show CGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	388	0.0026	23	c.-49 others(34): Show c.-4973_-4972insGGGGGGGGGGGGGGGGGGGGGGG	RAP1B	ENSG00000127314.18	transcript	ENST00000250559.14	protein_coding		4801		chr12	TogoVar
RAP1GAP2_chr17_2791438_3042741	2969496	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 HG03453.hp1 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0016 a0001c0007 a0001c0016	a0001c0007t0040 a0001c0016t0128 a0001c0007t0040 a0001c0016t0128	a0001c0007t0040g0015 a0001c0016t0128g0191 a0001c0007t0040g0015 a0001c0016t0128g0191	2	218	0.0092	23	c.596 others(40): Show c.596+3854_596+3876dupTTTTTTTTTTTTTTTTTTTTTTT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GDS1_chr4_98256384_98448858	98443015	A A	ATTTTTTT others(16): Show ATTTTTTTTTCTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01433.hp2 others(8): Show HG00642.hp2 HG01074.hp2 HG01433.hp2 HG01515.hp1 HG01952.hp2 HG02004.hp2 HG02148.hp1 HG02258.hp1 HG02738.hp2 HG02809.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0001t0004g0173 others(8): Show a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0001t0004g0173 a0001c0001t0004g0183 a0001c0001t0004g0187 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0198 a0001c0001t0004g0200	11	242	0.0455	23	c.90 others(32): Show c.907_*908insCTTTTTTTTTTTTTTTTTTTTTT	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	15/15	908	INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF1_chr9_131571775_131745076	131730697	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	368	0.0027	23	c.61+ others(38): Show c.61+9072_61+9073insTTTTTTTTTTTTTTTTTTTTTTT	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	1/26			chr9	TogoVar
RAPGEF2_chr4_159098079_159365173	159100893	G G	GAAGATAT others(16): Show GAAGATATGATGACAATGAGGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02970.hp2 HG03579.hp1 others(1): Show HG02280.hp2 HG02970.hp2 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0005 a0001c0001t0011g0021 a0001c0001t0011g0022 others(1): Show a0001c0001t0002g0005 a0001c0001t0011g0021 a0001c0001t0011g0022 a0001c0001t0011g0023	4	194	0.0206	23	c.-32 others(34): Show c.-3270_-3269insAAGATATGATGACAATGAGGAAC	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding		2185		chr4	TogoVar
RAPGEF4_chr2_172730845_173057893	172831266	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01261.hp2 HG03239.hp2 others(2): Show HG00642.hp2 HG01261.hp2 HG03239.hp2 HG04228.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0137 others(2): Show a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0007t0001g0119	5	178	0.0281	23	c.444 others(42): Show c.444+16860_444+16861insTTTTTTTTTTTTTTTTTTTTTTT	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPH1_chr2_203428682_203540301	203529005	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0008 a0008	a0008c0030 a0008c0030	a0008c0030t0006 a0008c0030t0006	a0008c0030t0006g0275 a0008c0030t0006g0275	1	290	0.0035	23	c.-1+ others(38): Show c.-1+6105_-1+6106insAAAAAAAAAAATATATATATATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RAPH1_chr2_203428682_203540301	203529005	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0044 a0001c0015t0044	a0001c0015t0044g0007 a0001c0015t0044g0007	1	290	0.0035	23	c.-1+ others(38): Show c.-1+6105_-1+6106insAAAAAAAAAAAAAAAAAAATATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RARB_chr3_25423263_25602932	25482521	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	290	0.0035	23	c.307 others(42): Show c.307-18647_307-18625dupTTTTTTTTTTTTTTTTTTTTTTT	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARG_chr12_53205569_53237209	53223523	G G	GCCCCCCC others(16): Show GCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	356	0.0028	23	c.184 others(40): Show c.184+3838_184+3839insGGGGGGGGGGGGGGGGGGGGGGG	RARG	ENSG00000172819.17	transcript	ENST00000425354.7	protein_coding	3/9			chr12	TogoVar
RASA1_chr5_87262883_87396916	87338533	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02602.hp2 HG01346.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0106 a0001c0001t0002g0005 a0001c0001t0001g0106 a0001c0001t0002g0005	2	282	0.0071	23	c.101 others(40): Show c.1017+442_1017+443insTATATATATATATATATATATAT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18947.hp1 HG01978.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0095 a0001c0001t0002g0024 a0001c0001t0001g0095 a0001c0001t0002g0024	2	282	0.0071	23	c.101 others(40): Show c.1017+444_1017+445insTATATATATATATATATATATTT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	282	0.0036	23	c.101 others(40): Show c.1017+444_1017+445insTATATATATTTTTTTTTTTTTTT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA3_chr13_113972783_114137623	114002371	C C	CAACCAGT others(16): Show CAACCAGTGGATGCCGAACGCCGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	67	0.0149	23	c.174 others(42): Show c.1743-1462_1743-1440dupACGGCGTTCGGCATCCACTGGTT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044227	C C	CCCCCCCG others(16): Show CCCCCCCGCCTCACTCGCTGAGCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	67	0.0149	23	c.278 others(40): Show c.278-3134_278-3133insAGCTCAGCGAGTGAGGCGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044355	C C	CCCCCCCC others(16): Show CCCCCCCCCGCCTCACTCGCTGAG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	67	0.0149	23	c.278 others(40): Show c.278-3262_278-3261insCTCAGCGAGTGAGGCGGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASD1_chr17_17489437_17501395	17493440	T T	TCCCTGCC others(16): Show TCCCTGCCCCTGCCTGTCACGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(207): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18997.hp1 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19043.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0002c0002t0004 a0004c0004t0002 a0005c0003t0004	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0003 others(11): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0004g0004 a0001c0001t0005g0006 a0001c0001t0005g0008 a0001c0001t0010g0012 a0001c0001t0011g0013 a0001c0001t0012g0015 a0001c0001t0013g0016 a0001c0001t0015g0020 a0002c0002t0004g0010 a0004c0004t0002g0017 a0005c0003t0004g0014	210	434	0.4839	23	c.16 others(34): Show c.1684_*1685insGCCCGTGACAGGCAGGGGCAGGG	RASD1	ENSG00000108551.5	transcript	ENST00000225688.4	protein_coding		996		chr17	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AAAAAAAG others(16): Show AAAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	316	0.0032	23	c.-7+ others(38): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCTTTCTTTTTT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18954.hp1 HG03516.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0119 a0001c0001t0022g0103 a0001c0001t0001g0119 a0001c0001t0022g0103	2	316	0.0063	23	c.-7+ others(38): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCTTTCTTTCTT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGRF1_chr15_78954906_79095780	79072267	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01106.hp1 others(1): Show HG00741.hp1 HG01069.hp2 HG01106.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0031 a0001c0001t0002g0044 a0001c0001t0003g0032 others(1): Show a0001c0001t0001g0031 a0001c0001t0002g0044 a0001c0001t0003g0032 a0001c0002t0001g0103	4	314	0.0127	23	c.277 others(40): Show c.277-7764_277-7742dupAAAAAAAAAAAAAAAAAAAAAAA	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	1/26			chr15	TogoVar
RASGRF2_chr5_80955363_81235162	80996471	T T	TTCTTCTT others(16): Show TTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	276	0.0036	23	c.288 others(42): Show c.288+35446_288+35447insCTTCTTCTTCTTCTTCTTCTTCT	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRP3_chr2_33471649_33569731	33529487	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0194 a0001c0001t0027g0194	1	370	0.0027	23	c.108 others(42): Show c.1083+2088_1083+2089insAAAAAAAAAAAAAAAAAAAAAAA	RASGRP3	ENSG00000152689.18	transcript	ENST00000403687.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASGRP3_chr2_33471649_33569731	33547342	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0206 a0002c0005t0003g0206	1	370	0.0027	23	c.139 others(42): Show c.1395-2255_1395-2233dupTTTTTTTTTTTTTTTTTTTTTTT	RASGRP3	ENSG00000152689.18	transcript	ENST00000403687.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASSF3_chr12_64605495_64702564	64669494	T T	TGCCTAGG others(16): Show TGCCTAGGTCTTTAGTTTTGAGTG	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0139 a0001c0001t0061g0139	1	370	0.0027	23	c.112 others(42): Show c.112-15292_112-15270dupGCCTAGGTCTTTAGTTTTGAGTG	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF5_chr1_206502531_206594448	206524637	A A	AAATATAT others(16): Show AAATATATATTATATATTATGTAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG03098.hp1 others(1): Show HG02258.hp1 HG02717.hp2 HG03098.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0012 a0001c0004t0007 a0001c0004t0013 a0001c0001t0012 a0001c0004t0007 a0001c0004t0013	a0001c0001t0012g0322 a0001c0004t0007g0001 a0001c0004t0013g0104 a0001c0001t0012g0322 a0001c0004t0007g0001 a0001c0004t0013g0104	4	346	0.0116	23	c.458 others(42): Show c.458-13518_458-13496dupTATGTATAATATATATTATATAT	RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASSF6_chr4_73566550_73625436	73566929	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	338	0.0030	23	c.93 others(34): Show c.9305_*9306insAAAAAAAAAAAAAAAAAAAAAAA	RASSF6	ENSG00000169435.14	transcript	ENST00000307439.10	protein_coding		4620		chr4	TogoVar

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