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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⚠️ 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RPS10_chr6_34412454_34431069	34424140	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	390	0.0026	19	c.322 others(34): Show c.322+510_322+528dupTTTTTTTTTTTTTTTTTTT		RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding	3/5						chr6	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00741.hp2 HG01071.hp1 others(34): Show HG00733.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp2 HG01256.hp2 HG01496.hp1 HG01993.hp1 HG02015.hp2 HG02109.hp1 HG02155.hp2 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18982.hp2 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19043.hp1 NA19084.hp1 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017	37	352	0.1051	19	c.-26 others(30): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTT		RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding					2599		chr19	TogoVar
RPS11_chr19_49491434_49504708	49493848	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	19	c.-26 others(30): Show c.-2609_-2608insTTTTTTTTTTTTTTTTTTG		RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding					2585		chr19	TogoVar
RPS19BP1_chr22_39524093_39537748	39528373	G G	GGGGAGGA others(12): Show GGGGAGGAGAGAGTTTAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0031	19	c.11 others(30): Show c.1118_*1119insTCCTAAACTCTCTCCTCCC		RPS19BP1	ENSG00000187051.9	transcript	ENST00000334678.8	protein_coding					719		chr22	TogoVar
RPS20_chr8_56068054_56079506	56068807	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	331	0.0030	19	c.42 others(30): Show c.4264_*4282dupAAAAAAAAAAAAAAAAAAA		RPS20	ENSG00000008988.11	transcript	ENST00000009589.8	protein_coding					4246		chr8	TogoVar
RPS29_chr14_49578577_49591380	49582012	C C	CCAAAAAA others(12): Show CCAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	335	0.0030	19	c.16 others(30): Show c.1654_*1655insTTTTTTTTTTTTTTTTTTG		RPS29	ENSG00000213741.11	transcript	ENST00000245458.11	protein_coding					1564		chr14	TogoVar
RPS6KA2_chr6_166404364_166632251	166409888	C C	CAATCTTC others(12): Show CAATCTTCCAAACATCAATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0033 a0001c0007t0033	a0001c0007t0033g0210 a0001c0007t0033g0210	1	244	0.0041	19	c.28 others(30): Show c.2855_*2873dupTATTGATGTTTGGAAGATT		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	21/21				2873		chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166480477	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0152 a0001c0009t0001g0152	1	244	0.0041	19	c.907 others(36): Show c.907+8355_907+8356insTATATATATATATATATAT		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20						chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166485457	T T	TGGGAGGG others(12): Show TGGGAGGGTTACTTCCTCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0129 a0001c0006t0005g0129	1	244	0.0041	19	c.907 others(36): Show c.907+3357_907+3375dupGGGAGGAAGTAACCCTCCC		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20						chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166517455	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0002 a0001c0036t0002	a0001c0036t0002g0051 a0001c0036t0002g0051	1	244	0.0041	19	c.299 others(36): Show c.299-7117_299-7099dupAAAAAAAAAAAAAAAAAAA		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	3/20						chr6	TogoVar
RPS6KA5_chr14_90842861_91065641	90885552	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0146 a0001c0001t0146	a0001c0001t0146g0053 a0001c0001t0146g0053	1	306	0.0033	19	c.183 others(38): Show c.1836+4916_1836+4934dupTTTTTTTTTTTTTTTTTTT		RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	14/16						chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	90885741	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0246 a0001c0001t0246	a0001c0001t0246g0127 a0001c0001t0246g0127	1	306	0.0033	19	c.183 others(38): Show c.1836+4727_1836+4745dupTTTTTTTTTTTTTTTTTTT		RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	14/16						chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91035847	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0221 a0001c0001t0221	a0001c0001t0221g0238 a0001c0001t0221g0238	1	306	0.0033	19	c.103 others(38): Show c.103+24466_103+24484dupTTTTTTTTTTTTTTTTTTT		RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16						chr14	TogoVar
RPS6KB1_chr17_59888121_59955574	59900171	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA20129.hp1 NA18977.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0226 a0001c0001t0004g0231 a0001c0001t0002g0226 a0001c0001t0004g0231	2	304	0.0066	19	c.141 others(36): Show c.141+6846_141+6847insCACACACACACACACACAC		RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14						chr17	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02897.hp1 HG02965.hp1 others(3): Show HG02809.hp1 HG02897.hp1 HG02965.hp1 HG03453.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0001 a0001c0001t0003 a0001c0001t0020	a0001c0001t0001g0016 a0001c0001t0001g0102 a0001c0001t0001g0221 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0102 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0003g0284 a0001c0001t0020g0103	6	330	0.0182	19	c.472 others(34): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAA		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATCCATCC others(12): Show ATCCATCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0072 a0002c0002t0029g0072	1	366	0.0027	19	c.-15 others(30): Show c.-1536_-1535insTCCATCCTTCCTTCCTTCC		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1102		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0034 a0001c0014t0034	a0001c0014t0034g0072 a0001c0014t0034g0072	1	196	0.0051	19	c.349 others(38): Show c.349-22213_349-22212insATATATATATTTTTTTTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80711744	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp2 HG03139.hp1 others(2): Show HG02109.hp1 HG02895.hp2 HG03139.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0016 a0001c0038 others(2): Show a0001c0005 a0001c0016 a0001c0038 a0001c0067 a0001c0075	a0001c0005t0067 a0001c0016t0031 a0001c0038t0007 others(2): Show a0001c0005t0067 a0001c0016t0031 a0001c0038t0007 a0001c0067t0068 a0001c0075t0012	a0001c0005t0067g0111 a0001c0016t0031g0011 a0001c0038t0007g0178 others(2): Show a0001c0005t0067g0111 a0001c0016t0031g0011 a0001c0038t0007g0178 a0001c0067t0068g0110 a0001c0075t0012g0127	5	196	0.0255	19	c.507 others(36): Show c.507+3761_507+3762insTTTTTTTTTTTTTTTTTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	4/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD3_chr3_9832849_9849008	9848103	A A	AGACATTC others(12): Show AGACATTCCATTGCCCAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02818.hp1 HG03579.hp2 others(2): Show HG02630.hp2 HG02818.hp1 HG03579.hp2 NA19043.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0003 a0005c0008t0003 a0001c0001t0003 a0005c0008t0003	a0001c0001t0003g0018 a0001c0001t0003g0059 a0005c0008t0003g0060 a0001c0001t0003g0018 a0001c0001t0003g0059 a0005c0008t0003g0060	5	452	0.0111	19	c.-41 others(30): Show c.-4132_-4114dupCCCTGGGCAATGGAATGTC		RPUSD3	ENSG00000156990.14	transcript	ENST00000383820.10	protein_coding					4096		chr3	TogoVar
RPUSD4_chr11_126197096_126216650	126214490	G G	GTTTTGTT others(12): Show GTTTTGTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0004 a0002c0001t0003g0004	1	416	0.0024	19	c.-28 others(30): Show c.-2853_-2852insAAAAAAAAAAAAAACAAAA		RPUSD4	ENSG00000165526.9	transcript	ENST00000298317.9	protein_coding					2841		chr11	TogoVar
RPUSD4_chr11_126197096_126216650	126214490	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02965.hp1 HG02273.hp1 HG02965.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0004 a0002c0001t0003g0030 a0002c0001t0003g0004 a0002c0001t0003g0030	2	416	0.0048	19	c.-28 others(30): Show c.-2853_-2852insAAAAAAAAAAAAAAAAAAA		RPUSD4	ENSG00000165526.9	transcript	ENST00000298317.9	protein_coding					2841		chr11	TogoVar
RRAD_chr16_66916685_66930535	66924678	A A	ATAATAAT others(12): Show ATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00621.hp1 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	386	0.0052	19	c.370 others(34): Show c.370+131_370+132insATTATTATTATTATTATTA		RRAD	ENSG00000166592.13	transcript	ENST00000299759.11	protein_coding	2/4						chr16	TogoVar
RRH_chr4_109822972_109849942	109836891	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03540.hp2 HG02896.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	2	402	0.0050	19	c.552 others(34): Show c.552-544_552-526dupAAAAAAAAAAAAAAAAAAA		RRH	ENSG00000180245.7	transcript	ENST00000317735.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
RRM1_chr11_4089799_4143932	4130066	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	368	0.0027	19	c.176 others(36): Show c.1769+916_1769+917insATATATATATATATATATA		RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18						chr11	TogoVar
RRM1_chr11_4089799_4143932	4130086	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0318 a0001c0001t0003g0318	1	368	0.0027	19	c.176 others(36): Show c.1769+937_1769+938insATATATATATATATATATT		RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
RRM1_chr11_4089799_4143932	4130087	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01256.hp1 others(6): Show HG00408.hp2 HG00558.hp1 HG01256.hp1 HG01258.hp2 HG02165.hp1 NA18983.hp2 NA19064.hp1 NA19070.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0226 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0226 a0001c0001t0001g0273 a0001c0001t0001g0286 a0001c0001t0001g0291	9	368	0.0245	19	c.176 others(36): Show c.1769+937_1769+938insATATATATATATATATATA		RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18						chr11	TogoVar
RRM2B_chr8_102199502_102243961	102211098	G G	GCCTCCCA others(12): Show GCCTCCCAGGCTCAAGTGAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01071.hp2 others(11): Show HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG02293.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0027 a0001c0001t0003g0063 others(8): Show a0001c0001t0003g0016 a0001c0001t0003g0027 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071	14	386	0.0363	19	c.903 others(36): Show c.903+1659_903+1677dupATCACTTGAGCCTGGGAGG		RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	8/8						chr8	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19056.hp2 NA19079.hp1 others(1): Show NA19043.hp2 NA19056.hp2 NA19079.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0040 a0001c0001t0002g0068 a0001c0001t0002g0083 others(1): Show a0001c0001t0002g0040 a0001c0001t0002g0068 a0001c0001t0002g0083 a0001c0001t0005g0170	4	336	0.0119	19	c.587 others(38): Show c.587-11163_587-11145dupTTTTTTTTTTTTTTTTTTT		RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSF1_chr11_77655009_77825722	77658011	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0251 a0001c0001t0023g0251	1	352	0.0028	19	c.89 others(30): Show c.8905_*8906insTTTTTTTTTTTTTTTTTTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding					1997		chr11	TogoVar
RSF1_chr11_77655009_77825722	77686408	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01515.hp1 HG02293.hp2 others(6): Show HG00733.hp1 HG01515.hp1 HG02293.hp2 HG03017.hp1 HG03492.hp2 HG03654.hp1 NA18971.hp1 NA19088.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0050 a0002c0003t0002 a0002c0003t0050	a0002c0003t0002g0099 a0002c0003t0002g0217 a0002c0003t0002g0220 others(6): Show a0002c0003t0002g0099 a0002c0003t0002g0217 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0235 a0002c0003t0002g0239 a0002c0003t0002g0345 a0002c0003t0050g0213	9	352	0.0256	19	c.290 others(38): Show c.2901-1268_2901-1250dupTTTTTTTTTTTTTTTTTTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	9/15						chr11	TogoVar
RSF1_chr11_77655009_77825722	77762027	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0017 a0001c0002t0029g0017	1	352	0.0028	19	c.279 others(36): Show c.279+2552_279+2570dupAAAAAAAAAAAAAAAAAAA		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	2/15						chr11	TogoVar
RSPH10B2_chr7_6749103_6803765	6769754	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0046 a0005c0018t0001g0046	1	108	0.0093	19	c.957 others(35): Show c.957+994_957+1012dupTTTTTTTTTTTTTTTTTTT		RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	9/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH6A_chr19_45790713_45820308	45795880	T T	TCTCCTCG others(12): Show TCTCCTCGCCCCTCCTCCTC	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0217 a0009c0016t0001g0217	1	424	0.0024	19	c.214 others(28): Show c.2142_2143insGAGGAGGAGGGGCGAGGAG	p.Thr others(5): Show p.Thr715fs	RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding	6/6	2274/2442	2142/2154	714/717			chr19	TogoVar
RSPH6A_chr19_45790713_45820308	45795916	C C	CCTCCTCG others(12): Show CCTCCTCGCCCTCCTCCTCT	frameshift_variant frameshift_variant	HIGH	NA19003.hp2 NA19003.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0240 a0010c0015t0001g0240	1	424	0.0024	19	c.210 others(28): Show c.2106_2107insAGAGGAGGAGGGCGAGGAG	p.Glu others(5): Show p.Glu703fs	RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding	6/6	2238/2442	2106/2154	702/717			chr19	TogoVar
RSPO3_chr6_127113671_127204481	127144643	G G	GTTTTTTT others(12): Show GTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0240 a0001c0001t0006g0240	1	310	0.0032	19	c.98- others(34): Show c.98-3995_98-3994insGTTTTTTTTTTTTTTTTTT		RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
RSPO3_chr6_127113671_127204481	127144643	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02895.hp1 HG03471.hp2 others(2): Show HG02083.hp1 HG02895.hp1 HG03471.hp2 HG03486.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0008 a0001c0004t0003 a0001c0001t0003 a0001c0001t0008 a0001c0004t0003	a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0008g0244 others(2): Show a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0008g0244 a0001c0001t0008g0248 a0001c0004t0003g0243	5	310	0.0161	19	c.98- others(34): Show c.98-3992_98-3991insTTTTTTTTTTTTTTTTTTT		RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
RSRC1_chr3_158105089_158550730	158316438	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0037 a0001c0001t0007g0037	1	276	0.0036	19	c.531 others(38): Show c.531+18371_531+18389dupTTTTTTTTTTTTTTTTTTT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158399123	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0195 a0001c0001t0010g0195	1	276	0.0036	19	c.583 others(38): Show c.583+44246_583+44264dupTTTTTTTTTTTTTTTTTTT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0168 a0001c0001t0004g0168	1	276	0.0036	19	c.652 others(38): Show c.652+16795_652+16796insATATATATATATATATATA		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9						chr3	TogoVar
RSRC1_chr3_158105089_158550730	158487949	G G	GGAAAAAA others(12): Show GGAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA19240.hp1 HG02273.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0026 a0001c0001t0009 a0001c0001t0026	a0001c0001t0009g0006 a0001c0001t0026g0107 a0001c0001t0009g0006 a0001c0001t0026g0107	2	276	0.0073	19	c.652 others(38): Show c.652+26946_652+26947insGAAAAAAAAAAAAAAAAAA		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9						chr3	TogoVar
RSRC1_chr3_158105089_158550730	158518148	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	276	0.0036	19	c.653 others(38): Show c.653-18943_653-18942insATATATATATATTTTTTTT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158518148	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02280.hp1 others(2): Show HG01891.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0022 a0001c0001t0002 a0001c0001t0009 a0001c0001t0022	a0001c0001t0002g0007 a0001c0001t0009g0006 a0001c0001t0009g0009 others(2): Show a0001c0001t0002g0007 a0001c0001t0009g0006 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0022g0008	5	276	0.0181	19	c.653 others(38): Show c.653-18943_653-18942insATATATATTTTTTTTTTTT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158518148	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0040 a0001c0001t0009g0040	1	276	0.0036	19	c.653 others(38): Show c.653-18943_653-18942insATATATTTTTTTTTTTTTT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03486.hp2 HG04184.hp2 others(2): Show HG01891.hp2 HG03486.hp2 HG04184.hp2 NA19011.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0022 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0022 a0001c0001t0032	a0001c0001t0004g0267 a0001c0001t0008g0094 a0001c0001t0008g0117 others(2): Show a0001c0001t0004g0267 a0001c0001t0008g0094 a0001c0001t0008g0117 a0001c0001t0022g0008 a0001c0001t0032g0122	5	276	0.0181	19	c.52 others(30): Show c.5253_*5254insAAAAAAAAAAAAAAAAAAT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding					3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 NA19077.hp2 HG02129.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0031 a0001c0001t0011 a0001c0001t0031	a0001c0001t0011g0202 a0001c0001t0031g0069 a0001c0001t0011g0202 a0001c0001t0031g0069	2	276	0.0073	19	c.52 others(30): Show c.5253_*5254insAAAAAAAAAAAAAAAATAT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding					3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18956.hp1 HG00408.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0214 a0001c0001t0011g0203 a0001c0001t0004g0214 a0001c0001t0011g0203	2	276	0.0073	19	c.52 others(30): Show c.5253_*5254insAAAAAAAAAAAAAATATAT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding					3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0044	1	276	0.0036	19	c.52 others(30): Show c.5253_*5254insAAAAAAAATATATATATAT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding					3799		chr3	TogoVar
RSU1_chr10_16585611_16822424	16683160	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0028 a0001c0001t0010g0028	1	190	0.0053	19	c.731 others(38): Show c.731+11862_731+11863insACACACACACACACACACA		RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8						chr10	TogoVar
RTKN2_chr10_62188086_62273844	62243616	T T	TACCGATT others(12): Show TACCGATTTTCCAGGTAGTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18951.hp2 NA18947.hp1 NA18951.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0026 a0004c0004t0040 a0001c0001t0026 a0004c0004t0040	a0001c0001t0026g0042 a0004c0004t0040g0041 a0001c0001t0026g0042 a0004c0004t0040g0041	2	262	0.0076	19	c.316 others(36): Show c.316+2364_316+2382dupGACTACCTGGAAAATCGGT		RTKN2	ENSG00000182010.11	transcript	ENST00000373789.8	protein_coding	3/11						chr10	TogoVar
RTL10_chr22_19841146_19859874	19847803	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01258.hp1 NA21309.hp2 HG01258.hp1 NA21309.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0044 a0004c0005t0052 a0004c0005t0044 a0004c0005t0052	a0004c0005t0044g0048 a0004c0005t0052g0050 a0004c0005t0044g0048 a0004c0005t0052g0050	2	418	0.0048	19	c.33 others(30): Show c.3363_*3364insTTTTTTTTTTTTTTTTTTT		RTL10	ENSG00000215012.9	transcript	ENST00000328554.9	protein_coding	3/3				3363		chr22	TogoVar

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