JoGo: Joint Open Genome and Omics Platform

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
REXO5_chr16_20801527_20854665	20820512	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 NA19068.hp1 HG01516.hp2 HG01517.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0041 a0001c0001t0001g0193 a0001c0001t0001g0195	3	372	0.0081	30	c.476 others(47): Show c.476-1246_476-1217dupATATATATATATATATATATATATATAT AT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0093	1	276	0.0036	30	c.332 others(47): Show c.332-1372_332-1371insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39343199	T T	TTTTAGTA others(23): Show TTTTAGTAGAGACAGGGTTTTACTATGTTGG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	276	0.0036	30	c.209 others(45): Show c.209-762_209-733dupCCAACATAGTAAAACCCTGTCTCTACTAAA	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	3/24			chr4	TogoVar
RFC3_chr13_33813149_33842500	33834329	T T	TATATATA others(23): Show TATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	416	0.0024	30	c.810 others(45): Show c.810-817_810-816insATATATATATATATATATACACACATACAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFC3_chr13_33813149_33842500	33834329	T T	TATATATA others(23): Show TATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03834.hp2 NA18954.hp1 others(2): Show HG00673.hp1 HG03834.hp2 NA18954.hp1 NA18989.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	5	416	0.0120	30	c.810 others(45): Show c.810-817_810-816insATATATATATATATATATATACACATACAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFPL4A_chr19_55754097_55768421	55759694	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	462	0.0022	30	c.-10 others(45): Show c.-10+522_-10+523insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RFPL4A	ENSG00000223638.4	transcript	ENST00000434937.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
RFTN1_chr3_16310845_16518699	16345264	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	268	0.0037	30	c.114 others(51): Show c.1146+12638_1146+12667dupCACACACACACACACACACACACA CACACA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16387570	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0248 a0001c0001t0001g0118 a0001c0001t0001g0248	2	268	0.0075	30	c.442 others(47): Show c.442-9498_442-9469dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0053 a0001c0002t0011g0053	1	268	0.0037	30	c.333 others(47): Show c.333-5948_333-5947insGTGTGTGTGTGTATATATATATATATAT AT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197625699	C C	CTCTCCTC others(23): Show CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02970.hp2 HG03492.hp1 others(1): Show HG02809.hp1 HG02970.hp2 HG03492.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0023	a0001c0001t0002g0079 a0001c0001t0007g0084 a0001c0001t0009g0141 others(1): Show a0001c0001t0002g0079 a0001c0001t0007g0084 a0001c0001t0009g0141 a0001c0001t0023g0102	4	312	0.0128	30	c.928 others(47): Show c.928+5311_928+5312insAGAGAGGAGAGGAGAGGAGAGGAGAGGA GA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	5/8			chr2	TogoVar
RFWD3_chr16_74616399_74671877	74630567	T T	TACTTGTA others(23): Show TACTTGTACCAGAACTCTCCATCATATGAAA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0197 a0001c0002t0002g0197	1	412	0.0024	30	c.175 others(47): Show c.1754+184_1754+213dupTTTCATATGATGGAGAGTTCTGGTACAA GT	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	10/12			chr16	TogoVar
RFX3_chr9_3213297_3531001	3467066	A A	ATAAGTAT others(23): Show ATAAGTATATATGTATATACATACATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18968.hp1 HG01109.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0050 a0001c0001t0014 a0001c0001t0050	a0001c0001t0014g0023 a0001c0001t0050g0031 a0001c0001t0014g0023 a0001c0001t0050g0031	2	196	0.0102	30	c.-9+ others(47): Show c.-9+58651_-9+58680dupCATATATGTATGTATATACATATATACT TA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504857	G G	GATATAAC others(23): Show GATATAACATATATTATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0125 a0001c0001t0051g0125	1	196	0.0051	30	c.-9+ others(47): Show c.-9+20889_-9+20890insTATATATAATATATATAATATATGTTAT AT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504864	T T	TATATATT others(23): Show TATATATTATATATATTATATATAATATAAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	196	0.0051	30	c.-9+ others(47): Show c.-9+20853_-9+20882dupGTTATATTATATATAATATATATAATAT AT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504906	A A	ATATTATA others(23): Show ATATTATATATAATATAACATATATTATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02615.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0064 a0001c0001t0010 a0001c0001t0064	a0001c0001t0010g0105 a0001c0001t0064g0124 a0001c0001t0010g0105 a0001c0001t0064g0124	2	196	0.0102	30	c.-9+ others(47): Show c.-9+20840_-9+20841insTATATAATATATGTTATATTATATATAA TA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX4_chr12_106578004_106767803	106641967	C C	CTATATCT others(23): Show CTATATCTATATCTATCTATATCTATATCTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	296	0.0034	30	c.191 others(47): Show c.191+2578_191+2579insATCTATATCTATCTATATCTATATCTAT AT	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX6_chr6_116872242_116937161	116936488	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 NA18955.hp2 NA18980.hp2 HG01243.hp2 NA18955.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0160 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0160	3	372	0.0081	30	c.49 others(41): Show c.4982_*4983insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RFX6	ENSG00000185002.10	transcript	ENST00000332958.3	protein_coding		4328		chr6	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01928.hp2 HG02280.hp2 others(3): Show HG01891.hp2 HG01928.hp2 HG02280.hp2 HG02622.hp1 HG02622.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0005t0006	a0001c0001t0001g0291 a0001c0003t0001g0297 a0001c0003t0001g0329 others(3): Show a0001c0001t0001g0291 a0001c0003t0001g0297 a0001c0003t0001g0329 a0001c0003t0004g0341 a0001c0005t0006g0024 a0001c0005t0006g0032	6	360	0.0167	30	c.401 others(47): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT AT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	ACTATATA others(23): Show ACTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01496.hp2 HG02135.hp2 others(6): Show HG01255.hp1 HG01496.hp2 HG02135.hp2 HG02717.hp2 HG03688.hp1 NA18956.hp2 NA18985.hp1 NA18998.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0009 a0001c0002t0039 others(2): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0039 a0001c0004t0011 a0001c0004t0049	a0001c0002t0002g0051 a0001c0002t0002g0081 a0001c0002t0002g0115 others(6): Show a0001c0002t0002g0051 a0001c0002t0002g0081 a0001c0002t0002g0115 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0009g0101 a0001c0002t0039g0068 a0001c0004t0011g0223 a0001c0004t0049g0254	9	360	0.0250	30	c.401 others(47): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT AG	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RFX8_chr2_101392359_101480112	101469082	G G	GTATATAT others(23): Show GTATATATATAAGTATATATATATAAGTGTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0015 a0015	a0015c0012 a0015c0012	a0015c0012t0001 a0015c0012t0001	a0015c0012t0001g0177 a0015c0012t0001g0177	1	352	0.0028	30	c.-52 others(47): Show c.-52-2212_-52-2183dupTACACTTATATATATATACTTATATATA TA	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	1/11			chr2	TogoVar
RGL3_chr19_11389060_11424314	11414163	A A	ATATATAT others(23): Show ATATATATATACACCTATATATATATACCTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0358 a0010c0020t0001g0358	1	402	0.0025	30	c.637 others(47): Show c.637+1773_637+1774insAAGGTATATATATATAGGTGTATATATA TA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414464	C C	CATATATA others(23): Show CATATATATACATATATATATACCTTCATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp1 HG03139.hp1 others(1): Show HG02572.hp1 HG02717.hp1 HG03139.hp1 NA19043.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0003 a0004c0004 a0006c0009 a0001c0003 a0004c0004 a0006c0009	a0001c0003t0001 a0004c0004t0001 a0006c0009t0001 a0001c0003t0001 a0004c0004t0001 a0006c0009t0001	a0001c0003t0001g0109 a0001c0003t0001g0110 a0004c0004t0001g0320 others(1): Show a0001c0003t0001g0109 a0001c0003t0001g0110 a0004c0004t0001g0320 a0006c0009t0001g0099	4	402	0.0100	30	c.637 others(47): Show c.637+1472_637+1473insATATGAAGGTATATATATATGTATATAT AT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTGTTGT others(23): Show GTTGTTGTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0070 a0001c0004t0070	a0001c0004t0070g0125 a0001c0004t0070g0125	1	414	0.0024	30	c.64 others(41): Show c.6428_*6429insAAAAAAAAAAAAAAAAAAAAAAAACAACAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0077 a0001c0002t0077	a0001c0002t0077g0059 a0001c0002t0077g0059	1	414	0.0024	30	c.64 others(41): Show c.6428_*6429insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGPD3_chr2_106398406_106473413	106412293	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0067 a0001c0047t0067	a0001c0047t0067g0263 a0001c0047t0067g0263	1	382	0.0026	30	c.526 others(47): Show c.5266+761_5266+790dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	22/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106472628	A A	AATATTTG others(23): Show AATATTTGATTTTATCAAATATTAAATTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03831.hp1 NA18948.hp2 others(11): Show HG03041.hp2 HG03831.hp1 NA18948.hp2 NA18951.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18991.hp2 NA19000.hp1 NA19058.hp2 NA19065.hp2 NA19079.hp1 NA19082.hp1	a0005 a0006 a0017 a0005 a0006 a0017	a0005c0036 a0006c0006 a0017c0020 a0005c0036 a0006c0006 a0017c0020	a0005c0036t0013 a0006c0006t0003 a0017c0020t0021 a0005c0036t0013 a0006c0006t0003 a0017c0020t0021	a0005c0036t0013g0072 a0006c0006t0003g0075 a0006c0006t0003g0076 others(11): Show a0005c0036t0013g0072 a0006c0006t0003g0075 a0006c0006t0003g0076 a0006c0006t0003g0077 a0006c0006t0003g0078 a0006c0006t0003g0083 a0006c0006t0003g0084 a0006c0006t0003g0085 a0006c0006t0003g0086 a0006c0006t0003g0087 a0006c0006t0003g0090 a0006c0006t0003g0092 a0006c0006t0003g0109 a0017c0020t0021g0168	14	382	0.0367	30	c.-43 others(41): Show c.-4341_-4340insCAAAATTTAATATTTGATAAAATCAAATAT	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding		4216		chr2	TogoVar
RGPD5_chr2_109789305_109862705	109823546	C C	CCTTTTCT others(23): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02080.hp1 HG00639.hp2 HG02080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0003 a0001c0001t0010 a0002c0002t0003	a0001c0001t0010g0006 a0002c0002t0003g0013 a0001c0001t0010g0006 a0002c0002t0003g0013	2	40	0.0500	30	c.127 others(47): Show c.1277-648_1277-647insTTCTTTTCTTTTCTTTTCTTTTCTTTTC TT	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD6_chr2_110508802_110582222	110547932	C C	CAAGAAAA others(23): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	2	0.5000	30	c.127 others(47): Show c.1277-648_1277-647insTTCTTTTCTTTTCTTTTCTTTTCTTTTC TT	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	9/22			chr2	TogoVar
RGPD8_chr2_112363369_112438645	112402495	C C	CAAGAAAA others(23): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0026 a0026	a0026c0032 a0026c0032	a0026c0032t0008 a0026c0032t0008	a0026c0032t0008g0069 a0026c0032t0008g0069	1	254	0.0039	30	c.127 others(47): Show c.1277-677_1277-648dupTTCTTTTCTTTTCTTTTCTTTTCTTTTC TT	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding	9/22			chr2	TogoVar
RGS18_chr1_192153462_192190815	192172864	C C	CATATATA others(23): Show CATATATATATATATATATATATAAATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	336	0.0030	30	c.284 others(47): Show c.284-8409_284-8408insTATAAATATATATATATATATATATATA TA	RGS18	ENSG00000150681.10	transcript	ENST00000367460.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS19_chr20_64068181_64084518	64075073	C C	CATGTGCC others(23): Show CATGTGCCTGGGAACAGGGCCACCCATGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	390	0.0026	30	c.153 others(45): Show c.153-562_153-533dupTCCCATGGGTGGCCCTGTTCCCAGGCACAT	RGS19	ENSG00000171700.14	transcript	ENST00000395042.2	protein_coding	3/5			chr20	TogoVar
RGS21_chr1_192311992_192372285	192320499	A A	AACGTGTA others(23): Show AACGTGTATGTGTATGTGTATGTGTATATGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18977.hp2 NA19068.hp1 HG02602.hp2 NA18977.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125	3	302	0.0099	30	c.-61 others(47): Show c.-61+3395_-61+3396insCGTGTATGTGTATGTGTATGTGTATATG TA	RGS21	ENSG00000253148.1	transcript	ENST00000417209.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS22_chr8_99955936_100111049	100051815	A A	ATATATAT others(23): Show ATATATATTTATATATAAATGTTTATATATT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19076.hp2 NA19088.hp2 NA18984.hp2 NA19076.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0237 a0001c0001t0001g0254 a0001c0001t0001g0026 a0001c0001t0001g0237 a0001c0001t0001g0254	3	310	0.0097	30	c.168 others(47): Show c.1689+957_1689+986dupAATATATAAACATTTATATATAAATATA TA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGS22_chr8_99955936_100111049	100060402	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01099.hp2 others(17): Show HG00738.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG02083.hp1 HG02165.hp2 HG02523.hp1 HG02630.hp2 HG03098.hp1 HG03239.hp1 HG04228.hp1 NA19000.hp2 NA19009.hp1 NA19058.hp2 NA19064.hp1 NA19076.hp1 NA19084.hp1 NA19088.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0072 a0001c0001t0001g0073 others(17): Show a0001c0001t0001g0022 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0097 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0241 a0001c0001t0001g0258 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0305	20	310	0.0645	30	c.151 others(49): Show c.1514+2188_1514+2189insTATATATATATATATATATATATATA TATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	9/27			chr8	TogoVar
RGS22_chr8_99955936_100111049	100060421	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA19090.hp2 HG02683.hp1 NA19090.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0228 a0007c0010t0001g0171 a0001c0001t0001g0228 a0007c0010t0001g0171	2	310	0.0065	30	c.151 others(49): Show c.1514+2169_1514+2170insGTATATATATATATATATATATATAT ATAT	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	9/27			chr8	TogoVar
RGS4_chr1_163064361_163081802	163073097	G G	GAAAAACG others(23): Show GAAAAACGGAAGAGAGAAAAGAAAAAAACAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	450	0.0022	30	c.211 others(45): Show c.211+250_211+251insGAAAAAAACAAAAAAACGGAAGAGAGAAAA	RGS4	ENSG00000117152.14	transcript	ENST00000367909.11	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS6_chr14_71927429_72571530	71936030	A A	ATATATAT others(23): Show ATATATATATACATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	130	0.0077	30	c.-21 others(47): Show c.-21+3099_-21+3100insCATATATATATATATATATGTATATATA TA	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72052933	C C	CTTCTTTC others(23): Show CTTCTTTCTTTCTTTTCTTCTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0090 a0001c0001t0024g0090	1	130	0.0077	30	c.84+ others(47): Show c.84+88060_84+88061insCTTTCTTTCTTTTCTTCTCTTTCTTTCT TT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	240842199	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	112	0.0089	30	c.610 others(49): Show c.610-15028_610-15027insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	9/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240868152	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp1 HG03098.hp2 others(2): Show HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001	a0001c0001t0002g0067 a0001c0001t0003g0015 a0001c0001t0004g0002 others(2): Show a0001c0001t0002g0067 a0001c0001t0003g0015 a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0003t0001g0065	5	112	0.0446	30	c.609 others(45): Show c.609+434_609+435insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	9/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241030361	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02615.hp1 HG03017.hp2 HG01981.hp2 HG02615.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0101 a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0101	3	112	0.0268	30	c.176 others(49): Show c.176-47233_176-47232insATATATATATATATATATATATATAT ATAT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241030377	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02257.hp1 HG01168.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0091 a0001c0001t0004g0013 a0001c0001t0001g0091 a0001c0001t0004g0013	2	112	0.0179	30	c.176 others(49): Show c.176-47249_176-47248insGTATATATATATATATATATATATAT ATAT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG03130.hp2 HG02257.hp1 HG02451.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0107 a0001c0001t0002g0072 a0001c0001t0004g0013 a0001c0001t0001g0107 a0001c0001t0002g0072 a0001c0001t0004g0013	3	112	0.0268	30	c.175 others(49): Show c.175+30427_175+30428insTATATATATATATATATATATATATA TACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	112	0.0089	30	c.175 others(49): Show c.175+30427_175+30428insTATATATATATATACACACACACACA CACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	112	0.0089	30	c.175 others(49): Show c.175+30427_175+30428insTATATATATACACACACACACACACA CACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089061	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	112	0.0089	30	c.175 others(47): Show c.175+9604_175+9605insTATATATATATATATATATATATATATA TA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	112	0.0089	30	c.175 others(47): Show c.175+9602_175+9603insTATATATATATATATATAGAGAGAGAGA GA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	112	0.0089	30	c.175 others(47): Show c.175+9602_175+9603insTATATATATATATATAGAGAGAGAGAGA GA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	112	0.0089	30	c.175 others(47): Show c.175+9602_175+9603insTATATATATATATAGAGAGAGAGAGAGA GA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089092	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	112	0.0089	30	c.175 others(47): Show c.175+9573_175+9574insGTATATATATATATATATATATATATAT AT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar

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