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
RFTN1_chr3_16310845_16518699	16404076	A A	ACATTTTA others(16): Show ACATTTTATATATTTTATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01069.hp1 HG01071.hp1 others(22): Show HG00423.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG02976.hp2 HG03041.hp2 NA18945.hp1 NA18946.hp1 NA18953.hp1 NA18955.hp2 NA18962.hp1 NA18968.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18992.hp2 NA18994.hp1 NA19004.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(22): Show a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0256 a0001c0002t0002g0010 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0078 a0001c0002t0002g0148 a0001c0002t0002g0205 a0001c0002t0002g0212 a0001c0002t0005g0058 a0001c0002t0005g0093 a0001c0002t0005g0128 a0001c0002t0005g0143 a0001c0002t0005g0237 a0002c0003t0004g0099 a0002c0003t0006g0173 a0002c0003t0009g0103	25	268	0.0933	23	c.441 others(40): Show c.441+5298_441+5299insATATATATAAAATATATAAAATG	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404313	T T	TTATATAT others(16): Show TTATATATTATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18949.hp1 NA21309.hp1 HG03017.hp1 NA18949.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0003c0007 a0001c0002 a0003c0004 a0003c0007	a0001c0002t0002 a0003c0004t0001 a0003c0007t0007 a0001c0002t0002 a0003c0004t0001 a0003c0007t0007	a0001c0002t0002g0087 a0003c0004t0001g0031 a0003c0007t0007g0172 a0001c0002t0002g0087 a0003c0004t0001g0031 a0003c0007t0007g0172	3	268	0.0112	23	c.441 others(40): Show c.441+5061_441+5062insTTATATATTATATATAATATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16485448	G G	GCAAGGAC others(16): Show GCAAGGACTCCATACATACAACAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0097 a0002c0003t0003g0097	1	268	0.0037	23	c.145 others(40): Show c.145+8254_145+8276dupATGTTGTATGTATGGAGTCCTTG	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	2/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197616309	A A	ATTTTATT others(16): Show ATTTTATTTTATTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02300.hp2 HG03209.hp2 others(10): Show HG02132.hp2 HG02300.hp2 HG03209.hp2 NA18946.hp1 NA18951.hp1 NA18962.hp2 NA18973.hp2 NA18981.hp2 NA18993.hp1 NA18995.hp2 NA19056.hp2 NA19084.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0003g0015 others(9): Show a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0003g0015 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0171 a0001c0001t0003g0185	13	312	0.0417	23	c.105 others(40): Show c.1051-331_1051-330insAAAATAAAATAAATAAAATAAAA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	6/8			chr2	TogoVar
RFX1_chr19_13956530_14011320	13984112	G G	GTGGGGTG others(16): Show GTGGGGTGGGGACCACAAGGGGCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG02895.hp1 others(4): Show HG02486.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03471.hp1 NA20129.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0018 a0004c0009 a0004c0010 others(1): Show a0001c0018 a0004c0009 a0004c0010 a0006c0007	a0001c0018t0015 a0004c0009t0007 a0004c0010t0007 others(2): Show a0001c0018t0015 a0004c0009t0007 a0004c0010t0007 a0004c0010t0017 a0006c0007t0012	a0001c0018t0015g0009 a0004c0009t0007g0011 a0004c0009t0007g0012 others(4): Show a0001c0018t0015g0009 a0004c0009t0007g0011 a0004c0009t0007g0012 a0004c0010t0007g0008 a0004c0010t0017g0007 a0006c0007t0012g0018 a0006c0007t0012g0019	7	280	0.0250	23	c.320 others(38): Show c.320-540_320-518dupAGCCCCTTGTGGTCCCCACCCCA	RFX1	ENSG00000132005.9	transcript	ENST00000254325.9	protein_coding	2/20			chr19	TogoVar
RFX1_chr19_13956530_14011320	14003372	A A	ACTGGATC others(16): Show ACTGGATCCCTGGTATCCAGCTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01175.hp1 others(55): Show HG00639.hp2 HG01109.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18951.hp2 NA18954.hp2 NA18975.hp2 NA18982.hp1 NA18997.hp1 NA19002.hp2 NA19060.hp1 NA19063.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0018 a0002c0002 others(3): Show a0001c0001 a0001c0018 a0002c0002 a0003c0004 a0004c0009 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0018t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0003c0004t0002 a0004c0009t0007 a0005c0008t0026	a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0001g0056 others(54): Show a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0005 a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0006g0247 a0001c0001t0013g0245 a0001c0001t0013g0251 a0001c0001t0016g0010 a0001c0018t0015g0009 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0246 a0002c0002t0002g0235 a0002c0002t0009g0042 a0002c0002t0009g0043 a0002c0002t0009g0044 a0003c0004t0002g0041 a0003c0004t0002g0258 a0004c0009t0007g0011 a0004c0009t0007g0012 a0005c0008t0026g0049	58	280	0.2071	23	c.-53 others(40): Show c.-53+2708_-53+2730dupGAAGCTGGATACCAGGGATCCAG	RFX1	ENSG00000132005.9	transcript	ENST00000254325.9	protein_coding	1/20			chr19	TogoVar
RFX2_chr19_5988164_6115500	6107616	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	308	0.0033	23	c.-9+ others(38): Show c.-9+2754_-9+2776dupTTTTTTTTTTTTTTTTTTTTTTT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3270126	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0165 a0001c0001t0052g0165	1	196	0.0051	23	c.135 others(40): Show c.1357+244_1357+245insTTTCTTTCTTTCTTTCTTTCTTT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	11/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3467126	G G	GTATATAT others(16): Show GTATATATGTATATACATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02280.hp2 others(1): Show HG01243.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0062	a0001c0001t0005g0153 a0001c0001t0007g0076 a0001c0001t0008g0184 others(1): Show a0001c0001t0005g0153 a0001c0001t0007g0076 a0001c0001t0008g0184 a0001c0001t0062g0059	4	196	0.0204	23	c.-9+ others(40): Show c.-9+58620_-9+58621insATATATATGTATATACATATATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504902	A A	ATATATAT others(16): Show ATATATATATAATATAACATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03834.hp1 HG02083.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0118 a0001c0001t0027g0109 a0001c0001t0001g0118 a0001c0001t0027g0109	2	196	0.0102	23	c.-9+ others(40): Show c.-9+20844_-9+20845insATATATGTTATATTATATATATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3505331	T T	TAAATATA others(16): Show TAAATATAAAATAAAATATTTTTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG02717.hp2 others(4): Show HG01099.hp2 HG02257.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 others(1): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 a0001c0001t0036	a0001c0001t0005g0084 a0001c0001t0012g0081 a0001c0001t0012g0166 others(4): Show a0001c0001t0005g0084 a0001c0001t0012g0081 a0001c0001t0012g0166 a0001c0001t0012g0167 a0001c0001t0018g0079 a0001c0001t0018g0080 a0001c0001t0036g0078	7	196	0.0357	23	c.-9+ others(40): Show c.-9+20415_-9+20416insTAAAAATATTTTATTTTATATTT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGL1_chr1_183800120_183933532	183853792	C C	CAATATCA others(16): Show CAATATCACCTTCCTTGATTTGTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0280 a0001c0002t0003g0280	1	296	0.0034	23	c.347 others(40): Show c.347+6030_347+6052dupCCTTGATTTGTTAATATCACCTT	RGL1	ENSG00000143344.16	transcript	ENST00000360851.4	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0206 a0001c0001t0098g0206	1	414	0.0024	23	c.64 others(34): Show c.6428_*6429insAAAAAAAAAAAAAAAAAAAAAAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGMA_chr15_93030271_93094211	93068356	G G	GAACGACA others(16): Show GAACGACACTCTCCCCAACATGTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG04204.hp2 others(4): Show HG00735.hp1 HG01070.hp1 HG04204.hp2 HG04228.hp2 NA18979.hp1 NA19000.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0052 a0001c0001t0144 a0001c0001t0149 others(3): Show a0001c0001t0052 a0001c0001t0144 a0001c0001t0149 a0001c0001t0164 a0001c0001t0165 a0001c0002t0121	a0001c0001t0052g0036 a0001c0001t0052g0042 a0001c0001t0144g0393 others(4): Show a0001c0001t0052g0036 a0001c0001t0052g0042 a0001c0001t0144g0393 a0001c0001t0149g0394 a0001c0001t0164g0251 a0001c0001t0165g0124 a0001c0002t0121g0035	7	414	0.0169	23	c.130 others(40): Show c.130+4537_130+4559dupTACATGTTGGGGAGAGTGTCGTT	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	2/3			chr15	TogoVar
RGMB_chr5_98768663_98801494	98770913	A A	AGCCCTTA others(16): Show AGCCCTTACTCTAGAAAGGATTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA19054.hp1 NA19054.hp2 NA18943.hp2 NA19054.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0036 a0001c0001t0010g0001 a0001c0001t0001g0036 a0001c0001t0010g0001	3	376	0.0080	23	c.-31 others(34): Show c.-3158_-3157insGCCCTTACTCTAGAAAGGATTGC	RGMB	ENSG00000174136.13	transcript	ENST00000513185.3	protein_coding		2749		chr5	TogoVar
RGPD8_chr2_112363369_112438645	112365489	G G	GTTGTTTT others(16): Show GTTGTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0211 a0007c0008t0003g0211	1	254	0.0039	23	c.46 others(34): Show c.4688_*4689insAAAAAAAAAAAAAAAAAAAACAA	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding		2879		chr2	TogoVar
RGS12_chr4_3288021_3444913	3355626	C C	CTCTACAA others(16): Show CTCTACAAAAAATACAAAAGTTAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	312	0.0032	23	c.199 others(44): Show c.1998+12574_1998+12596dupTCTACAAAAAATACAAAAGTTAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3359188	C C	CCTCCCCC others(16): Show CCTCCCCCTCCTCCTCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0004 a0001c0021t0001g0004	1	312	0.0032	23	c.199 others(44): Show c.1998+16152_1998+16174dupTCCCCTTCTCCCCCTCCTCCTCC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS14_chr5_177352924_177377596	177371067	G G	GCGGGGCC others(16): Show GCGGGGCCGGGCCGGGGCCGGGGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	418	0.0024	23	c.125 others(38): Show c.1254+37_1254+38insGGGGCCGGGCCGGGGCCGGGGCC	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS14_chr5_177352924_177377596	177371067	G G	GCGGGGCG others(16): Show GCGGGGCGGGGCCGGGGCCGGGGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	418	0.0024	23	c.125 others(38): Show c.1254+37_1254+38insGGGGCGGGGCCGGGGCCGGGGCC	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS16_chr1_182593623_182609389	182594343	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 NA19010.hp1 HG02135.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	2	442	0.0045	23	c.59 others(34): Show c.5948_*5949insCTTTCTTTCTTTCTTTCTTTCTT	RGS16	ENSG00000143333.7	transcript	ENST00000367558.6	protein_coding		4279		chr1	TogoVar
RGS16_chr1_182593623_182609389	182594349	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03195.hp2 HG02630.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0018 a0002c0002t0008 a0002c0002t0018	a0002c0002t0008g0010 a0002c0002t0018g0046 a0002c0002t0008g0010 a0002c0002t0018g0046	2	442	0.0045	23	c.59 others(34): Show c.5942_*5943insTTTCTTTCTTTCTTTCTTTCTTT	RGS16	ENSG00000143333.7	transcript	ENST00000367558.6	protein_coding		4273		chr1	TogoVar
RGS5_chr1_163137299_163207916	163180686	G G	GTTTTTTT others(16): Show GTTTTTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03239.hp2 HG02735.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0271 a0001c0001t0002g0272 a0001c0001t0001g0271 a0001c0001t0002g0272	2	322	0.0062	23	c.45- others(40): Show c.45-12319_45-12318insAAAAAAAAAAAAAAACAAAAAAA	RGS5	ENSG00000143248.13	transcript	ENST00000313961.10	protein_coding	1/4			chr1	TogoVar
RGS5_chr1_163137299_163207916	163180686	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	322	0.0031	23	c.45- others(40): Show c.45-12341_45-12319dupAAAAAAAAAAAAAAAAAAAAAAA	RGS5	ENSG00000143248.13	transcript	ENST00000313961.10	protein_coding	1/4			chr1	TogoVar
RGS5_chr1_163137299_163207916	163182927	G G	GGGGTAAT others(16): Show GGGGTAATATTTATATTTAAATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(139): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18992.hp1 NA18995.hp2 NA19000.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0069 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0003g0067 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0121 a0001c0001t0003g0135 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0004g0080 a0001c0001t0004g0090 a0001c0001t0004g0107 a0001c0001t0004g0133 a0001c0001t0004g0168 a0001c0001t0004g0181 a0001c0001t0004g0190 a0001c0001t0004g0199 a0001c0001t0004g0203 a0001c0001t0004g0215 a0001c0001t0005g0004 a0001c0001t0005g0066 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0112 a0001c0001t0005g0137 a0001c0001t0005g0180 a0001c0001t0005g0193 a0001c0001t0006g0008 a0001c0001t0006g0130 a0001c0001t0006g0169 a0001c0001t0006g0171 a0001c0001t0006g0183 a0001c0001t0007g0084 a0001c0001t0007g0206 a0001c0001t0007g0207 a0001c0001t0012g0109 a0001c0001t0012g0188 a0001c0001t0013g0106 a0001c0001t0013g0174 a0001c0001t0014g0072 a0001c0001t0015g0064 a0001c0001t0018g0208 a0001c0001t0020g0187 a0001c0001t0020g0194 a0001c0001t0021g0108 a0001c0001t0021g0198 a0001c0001t0025g0176 a0001c0001t0028g0089 a0001c0001t0032g0200 a0001c0001t0035g0146 a0001c0001t0036g0148 a0001c0001t0038g0202 a0001c0001t0039g0210	142	322	0.4410	23	c.45- others(40): Show c.45-14560_45-14559insATATTTAAATATAAATATTACCC	RGS5	ENSG00000143248.13	transcript	ENST00000313961.10	protein_coding	1/4			chr1	TogoVar
RGS6_chr14_71927429_72571530	72053045	C C	CTCCCTTC others(16): Show CTCCCTTCCCTCCCTTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp2 HG01099.hp1 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0002 a0001c0001t0027 a0001c0002t0002	a0001c0001t0027g0045 a0001c0002t0002g0036 a0001c0001t0027g0045 a0001c0002t0002g0036	2	130	0.0154	23	c.84+ others(40): Show c.84+88175_84+88176insTCCCTCCCTTCCCTCCCTTCCCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72053049	C C	CTCCCTTC others(16): Show CTCCCTTCCCTCCCTTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01243.hp2 HG01261.hp2 others(4): Show HG00423.hp2 HG01243.hp2 HG01261.hp2 HG03098.hp2 HG03225.hp2 HG04184.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0001t0040	a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0083 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0083 a0001c0001t0005g0001 a0001c0001t0016g0010 a0001c0001t0017g0122 a0001c0001t0040g0092	7	130	0.0539	23	c.84+ others(40): Show c.84+88179_84+88180insTCCCTCCCTTCCCTCCCTTCCCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	240793611	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	112	0.0089	23	c.6+ others(38): Show c.6+7029_*6+7030insAAATATATATATATATATATATA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240793611	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03486.hp2 NA19068.hp2 HG02647.hp1 HG03486.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0042 a0001c0001t0003g0006 a0001c0001t0005g0021 a0001c0001t0002g0042 a0001c0001t0003g0006 a0001c0001t0005g0021	3	112	0.0268	23	c.6+ others(38): Show c.6+7029_*6+7030insAAAAATATATATATATATATATA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240793611	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	112	0.0089	23	c.6+ others(38): Show c.6+7029_*6+7030insAAAAAAATATATATATATATATA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240793611	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	112	0.0089	23	c.6+ others(38): Show c.6+7029_*6+7030insAAAAAAAAATATATATATATATA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240793611	A A	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	112	0.0089	23	c.6+ others(38): Show c.6+7029_*6+7030insAAAAAAAAAAAAAAAAATATATA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RHBDD2_chr7_75874034_75893926	75883334	T T	TATGGTGA others(16): Show TATGGTGAAACACTGTCTCTACTG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0089 a0001c0005t0001g0089	1	394	0.0025	23	c.587 others(38): Show c.587-362_587-340dupTGGTGAAACACTGTCTCTACTGA	RHBDD2	ENSG00000005486.17	transcript	ENST00000006777.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
RHBDF2_chr17_76465896_76506423	76480072	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	364	0.0028	23	c.151 others(38): Show c.151-219_151-218insTATATATATATATATATATATAT	RHBDF2	ENSG00000129667.13	transcript	ENST00000675367.1	protein_coding	3/18			chr17	TogoVar
RHD_chr1_25267509_25335445	25276532	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0202 a0003c0004t0007g0202	1	214	0.0047	23	c.148 others(40): Show c.148+3838_148+3860dupAAAAAAAAAAAAAAAAAAAAAAA	RHD	ENSG00000187010.21	transcript	ENST00000328664.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHD_chr1_25267509_25335445	25312920	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA20300.hp2 HG02293.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0160 a0001c0001t0020g0194 a0001c0001t0002g0160 a0001c0001t0020g0194	2	214	0.0094	23	c.107 others(42): Show c.1074-4067_1074-4045dupAAAAAAAAAAAAAAAAAAAAAAA	RHD	ENSG00000187010.21	transcript	ENST00000328664.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHEBL1_chr12_49059676_49074979	49072126	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	374	0.0027	23	c.-23 others(34): Show c.-2342_-2341insATATATATATATATATTTTTTTT	RHEBL1	ENSG00000167550.11	transcript	ENST00000301068.11	protein_coding		2148		chr12	TogoVar
RHEBL1_chr12_49059676_49074979	49072126	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	374	0.0027	23	c.-23 others(34): Show c.-2342_-2341insATATATATATATATATATTTTTT	RHEBL1	ENSG00000167550.11	transcript	ENST00000301068.11	protein_coding		2148		chr12	TogoVar
RHNO1_chr12_2872223_2894524	2883511	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	426	0.0024	23	c.-84 others(40): Show c.-84-1771_-84-1770insATATATATATATATATATATATT	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RHNO1_chr12_2872223_2894524	2883512	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18965.hp1 NA19083.hp2 HG02155.hp1 NA18965.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0201 a0001c0002t0001g0211 a0001c0002t0001g0212	3	426	0.0070	23	c.-84 others(40): Show c.-84-1771_-84-1770insATATATATATATATATATATATA	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	1/2			chr12	TogoVar
RHOA_chr3_49354145_49416976	49399054	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03492.hp2 NA18940.hp2 HG01515.hp1 HG03492.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0185 a0001c0001t0001g0199 a0001c0001t0001g0131 a0001c0001t0001g0185 a0001c0001t0001g0199	3	264	0.0114	23	c.-3+ others(40): Show c.-3+12743_-3+12765dupTTTTTTTTTTTTTTTTTTTTTTT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOA_chr3_49354145_49416976	49404433	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	264	0.0038	23	c.-3+ others(38): Show c.-3+7386_-3+7387insGTGTGTGTGTGTGTGTGTGTGTG	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOBTB2_chr8_22994548_23025199	23019331	G G	GCCCCTCC others(16): Show GCCCCTCCAGGACTGTGGCTGCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp2 NA18940.hp2 NA18975.hp1 HG02135.hp2 NA18940.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	3	358	0.0084	23	c.18 others(34): Show c.1871_*1893dupGGACTGTGGCTGCCTCCCCTCCA	RHOBTB2	ENSG00000008853.18	transcript	ENST00000251822.7	protein_coding	10/10	1894	INFO_REALIGN_3_PRIME	chr8	TogoVar
RHOG_chr11_3821978_3845959	3836902	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG04228.hp2 HG03471.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0235 a0001c0001t0009g0342 a0001c0001t0001g0235 a0001c0001t0009g0342	2	468	0.0043	23	c.-69 others(40): Show c.-69+3969_-69+3991dupTTTTTTTTTTTTTTTTTTTTTTT	RHOG	ENSG00000177105.10	transcript	ENST00000351018.5	protein_coding	1/1			chr11	TogoVar
RHOXF1_chrX_120104051_120120913	120112547	A A	ATGTATAT others(16): Show ATGTATATATTACACATATATATG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	320	0.0031	23	c.444 others(38): Show c.444+321_444+322insCATATATATGTGTAATATATACA	RHOXF1	ENSG00000101883.6	transcript	ENST00000217999.3	protein_coding	2/2			chrX	TogoVar
RIF1_chr2_151404902_151487172	151408164	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0007 a0008c0012t0007	a0008c0012t0007g0289 a0008c0012t0007g0289	1	380	0.0026	23	c.-18 others(34): Show c.-1880_-1879insAATATATATATATATATATATAT	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding		1737		chr2	TogoVar
RIGI_chr9_32450302_32531196	32508239	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01069.hp1 others(10): Show HG00140.hp1 HG00738.hp2 HG01069.hp1 HG01167.hp2 HG01257.hp2 HG01358.hp2 HG02004.hp1 HG02723.hp1 HG02965.hp2 HG03139.hp2 HG03492.hp1 HG03654.hp2 NA18959.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0010 a0002c0004 others(2): Show a0001c0001 a0001c0010 a0002c0004 a0002c0007 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0001c0010t0004 a0002c0004t0005 a0002c0007t0001 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003	a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0187 others(9): Show a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0004g0198 a0001c0001t0024g0158 a0001c0010t0004g0001 a0002c0004t0005g0292 a0002c0004t0005g0309 a0002c0007t0001g0326 a0004c0005t0001g0259 a0004c0005t0002g0268 a0004c0005t0003g0267	13	344	0.0378	23	c.107 others(40): Show c.107-7301_107-7300insAAAAAAAAAAAAAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RIGI_chr9_32450302_32531196	32521139	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0206	1	344	0.0029	23	c.106 others(40): Show c.106+4899_106+4921dupTTTTTTTTTTTTTTTTTTTTTTT	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RILPL1_chr12_123465054_123538719	123536907	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG04199.hp1 HG02257.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0013 a0002c0003t0015 a0001c0002t0013 a0002c0003t0015	a0001c0002t0013g0180 a0002c0003t0015g0175 a0001c0002t0013g0180 a0002c0003t0015g0175	2	210	0.0095	23	c.-34 others(34): Show c.-3426_-3425insAAAGAAAGAAAGAAAGAAAGAAA	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding		3189		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130583730	G G	GACCCCCA others(16): Show GACCCCCATCACCTCATCACCACC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG03130.hp1 others(3): Show HG02280.hp1 HG02809.hp1 HG03130.hp1 HG03225.hp1 HG03516.hp2 NA19030.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0019	a0001c0003 a0001c0032 a0001c0036 others(3): Show a0001c0003 a0001c0032 a0001c0036 a0002c0009 a0003c0030 a0019c0038	a0001c0003t0001 a0001c0032t0001 a0001c0036t0001 others(3): Show a0001c0003t0001 a0001c0032t0001 a0001c0036t0001 a0002c0009t0001 a0003c0030t0002 a0019c0038t0001	a0001c0003t0001g0154 a0001c0032t0001g0026 a0001c0036t0001g0094 others(3): Show a0001c0003t0001g0154 a0001c0032t0001g0026 a0001c0036t0001g0094 a0002c0009t0001g0128 a0003c0030t0002g0137 a0019c0038t0001g0090	6	180	0.0333	23	c.-21 others(44): Show c.-217+44569_-217+44591dupGGTGGTGATGAGGTGATGGGGGT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar

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