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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CROCC2_chr2_240901336_240998311	240976374	AGTCTCTG others(82): Show AGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTC	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0016 a0016	a0016c0061 a0016c0061	a0016c0061t0002 a0016c0061t0002	a0016c0061t0002g0307 a0016c0061t0002g0307	1	350	0.0029	-89	c.440 others(108): Show c.4402-6505_4402-6417delGTCTCTGGGGTAGGAGCCTCTGGAGC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977949	AGTCTCTG others(82): Show AGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTC	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	1	350	0.0029	-89	c.440 others(108): Show c.4402-4930_4402-4842delGTCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CYP2C8_chr10_95031772_95074497	95049857	CTTGAGGA others(82): Show CTTGAGGAGTGGGGGGCTTGAATAGCTAGCAGCAATACCCAGGTACTATG TTGAGGGCTTTGGGTAAGTCTCTGAGGCTTACCGGCTTCA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01433.hp2 HG02055.hp2 others(7): Show HG01257.hp1 HG01433.hp2 HG02055.hp2 HG02486.hp2 HG02922.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 others(7): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156	10	376	0.0266	-89	c.820 others(106): Show c.820-3995_820-3907delTGAAGCCGGTAAGCCTCAGAGACTTACC CAAAGCCCTCAACATAGTACCTGGGTATTGCTGCTAGCTATTCAAGCCCC CCACTCCTCAA	CYP2C8	ENSG00000138115.15	transcript	ENST00000371270.6	protein_coding	5/8			chr10	TogoVar
DACH1_chr13_71432966_71872204	71553362	CATATATC others(82): Show CATATATCCATATATGTATATTAGACATATATCCATATATGTATATTAGA CATATATCCATATATGTATATTAGACATATATCCATATAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0006 a0003c0003t0013g0006	1	102	0.0098	-89	c.157 others(108): Show c.1570+3573_1570+3661delATATATGGATATATGTCTAATATACA TATATGGATATATGTCTAATATACATATATGGATATATGTCTAATATACA TATATGGATATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775528	TCTCCTAC others(82): Show TCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTC CTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02486.hp2 HG02559.hp1 others(4): Show HG00408.hp2 HG02486.hp2 HG02559.hp1 HG02922.hp1 HG03453.hp1 HG03579.hp1 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0162 a0001c0001t0002g0298 a0002c0002t0003g0017 others(3): Show a0001c0001t0002g0162 a0001c0001t0002g0298 a0002c0002t0003g0017 a0002c0002t0003g0190 a0002c0002t0003g0218 a0002c0002t0003g0247	7	420	0.0167	-89	c.363 others(106): Show c.363+1443_364-1495delGAGAATACTGTAGGAGAATACATGTAGG AGAATACTGTAGGAGAATACTGTAGGAGAATACATGTACTGTAGGAGAAT ACATGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2276894	AGAGAGAA others(82): Show AGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAAC GAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02293.hp2 HG02698.hp1 others(1): Show HG01496.hp1 HG02293.hp2 HG02698.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0016 a0003c0003 a0003c0016	a0003c0003t0002 a0003c0016t0002 a0003c0003t0002 a0003c0016t0002	a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0018 others(1): Show a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0018 a0003c0016t0002g0040	4	50	0.0800	-89	c.389 others(107): Show c.389-10036_389-9948delCTTCCCCCATTTCCTCCTCTTCCTTCT CTCTCCCTCTCTCGTTTGCCCTCCCTCTCTCTCCCTGTTCCCTCTCCATC TCTCTTTCTCTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DIP2C_chr10_269201_694668	679154	CCCCGCAT others(82): Show CCCCGCATCCGTCCTCCCCGCGCCCATGCTCCCCACACCCAGGCTCCCCG CGCCCATCTCTACTCCCCACACCCAGGCTCCCCGCGCCCG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	88	0.0114	-89	c.85+ others(106): Show c.85+10251_85+10339delCGGGCGCGGGGAGCCTGGGTGTGGGGAG TAGAGATGGGCGCGGGGAGCCTGGGTGTGGGGAGCATGGGCGCGGGGAGG ACGGATGCGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAH9_chr17_11593470_11974748	11694703	TCTCTCTC others(82): Show TCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0016 a0016	a0016c0011 a0016c0011	a0016c0011t0001 a0016c0011t0001	a0016c0011t0001g0121 a0016c0011t0001g0121	1	178	0.0056	-89	c.487 others(106): Show c.4872+257_4872+345delCTCTCTCTCTCTCTCTCTCTCTCTTTCT CTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT TTCTTTCTTTC	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68			chr17	TogoVar
DPP10_chr2_114437641_115850780	114834607	CCATATCT others(82): Show CCATATCTAAGCACCTATGTATATATAAGCCATATCTACACACCTATGTA TATATATAGGCCATATCTACACACCTATGTATATATAAGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp2 HG02280.hp1 HG03195.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0005c0008 a0002c0001 a0005c0008	a0002c0001t0001 a0005c0008t0010 a0002c0001t0001 a0005c0008t0010	a0002c0001t0001g0040 a0005c0008t0010g0036 a0002c0001t0001g0040 a0005c0008t0010g0036	2	56	0.0357	-89	c.60+ others(108): Show c.60+391778_60+391866delAGCACCTATGTATATATAAGCCATAT CTACACACCTATGTATATATATAGGCCATATCTACACACCTATGTATATA TAAGACATATCTA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154817741	AGGGTGAT others(82): Show AGGGTGATGTCATGAATGTCCTCAGTGATTGATGGATGATGTCATGAATG TCCTGAGTGATTAATGACATGAGCATCATGAGTGATTGAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01433.hp2 HG02280.hp2 others(7): Show HG00673.hp1 HG01433.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02965.hp1 HG03453.hp1 HG03579.hp1 HG03579.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0016 a0001c0018 others(6): Show a0001c0003 a0001c0016 a0001c0018 a0002c0004 a0002c0008 a0002c0009 a0002c0014 a0002c0022 a0002c0028	a0001c0003t0008 a0001c0016t0013 a0001c0018t0009 others(7): Show a0001c0003t0008 a0001c0016t0013 a0001c0018t0009 a0002c0004t0004 a0002c0008t0006 a0002c0008t0012 a0002c0009t0004 a0002c0014t0025 a0002c0022t0023 a0002c0028t0002	a0001c0003t0008g0025 a0001c0016t0013g0014 a0001c0018t0009g0023 others(7): Show a0001c0003t0008g0025 a0001c0016t0013g0014 a0001c0018t0009g0023 a0002c0004t0004g0008 a0002c0008t0006g0034 a0002c0008t0012g0001 a0002c0009t0004g0004 a0002c0014t0025g0029 a0002c0022t0023g0027 a0002c0028t0002g0016	10	38	0.2632	-89	c.166 others(110): Show c.1666+10651_1666+10739delCAGTGATTGATGGATGATGTCATG AATGTCCTGAGTGATTAATGACATGAGCATCATGAGTGATTGATGGGTGA TGTCATGAATGTCCT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DUT_chr15_48326429_48348373	48348222	TTTTTTTT others(82): Show TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCAGGCT GGAGTGCAGTGGCGTAATCTCAGTTCACTGCAATCTCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	-89	c.61 others(100): Show c.6145_*6233delTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG CTCTGTTGCCAGGCTGGAGTGCAGTGGCGTAATCTCAGTTCACTGCAATC TCTGC	DUT	ENSG00000128951.14	transcript	ENST00000331200.8	protein_coding		4850		chr15	TogoVar
DYSF_chr2_71448561_71691763	71691503	CACACACA others(82): Show CACACACACACACACCATTTTCTGCTCCTTTTCCAGGGCTGTGTGGATAG TCCAGGATGGGGTGATGTCTGCTGGTGTTTTTGAGAGATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG02818.hp1 HG01884.hp2 HG02630.hp1 HG02818.hp1	a0001 a0018 a0023 a0001 a0018 a0023	a0001c0010 a0018c0059 a0023c0032 a0001c0010 a0018c0059 a0023c0032	a0001c0010t0004 a0018c0059t0001 a0023c0032t0001 a0001c0010t0004 a0018c0059t0001 a0023c0032t0001	a0001c0010t0004g0033 a0018c0059t0001g0093 a0023c0032t0001g0191 a0001c0010t0004g0033 a0018c0059t0001g0093 a0023c0032t0001g0191	3	192	0.0156	-89	c.50 others(100): Show c.5012_*5100delACACACACACACACCATTTTCTGCTCCTTTTCCA GGGCTGTGTGGATAGTCCAGGATGGGGTGATGTCTGCTGGTGTTTTTGAG AGATT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding		4741		chr2	TogoVar
DYSF_chr2_71461699_71691763	71691503	CACACACA others(82): Show CACACACACACACACCATTTTCTGCTCCTTTTCCAGGGCTGTGTGGATAG TCCAGGATGGGGTGATGTCTGCTGGTGTTTTTGAGAGATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG02818.hp1 others(1): Show HG01884.hp1 HG02630.hp1 HG02818.hp1 HG03130.hp1	a0001 a0020 a0025 others(1): Show a0001 a0020 a0025 a0027	a0001c0010 a0020c0062 a0025c0033 others(1): Show a0001c0010 a0020c0062 a0025c0033 a0027c0059	a0001c0010t0005 a0020c0062t0001 a0025c0033t0002 others(1): Show a0001c0010t0005 a0020c0062t0001 a0025c0033t0002 a0027c0059t0005	a0001c0010t0005g0091 a0020c0062t0001g0045 a0025c0033t0002g0152 others(1): Show a0001c0010t0005g0091 a0020c0062t0001g0045 a0025c0033t0002g0152 a0027c0059t0005g0117	4	208	0.0192	-89	c.50 others(100): Show c.5012_*5100delACACACACACACACCATTTTCTGCTCCTTTTCCA GGGCTGTGTGGATAGTCCAGGATGGGGTGATGTCTGCTGGTGTTTTTGAG AGATT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding		4741		chr2	TogoVar
EIF4G1_chr3_184309606_184340353	184314478	GGCAAATC others(82): Show GGCAAATCCCATGTGCTCGGCGGCGCAGATCGCCCGGCGCGGCTCCGCCC CCTGCGCCGGTCACGTGGGGGCGCCGGCTGCGCCTGCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0010 a0001c0001t0008g0010	1	384	0.0026	-89	c.-28 others(98): Show c.-287_-199delGCAAATCCCATGTGCTCGGCGGCGCAGATCGCCCGG CGCGGCTCCGCCCCCTGCGCCGGTCACGTGGGGGCGCCGGCTGCGCCTGC GGA	EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding		127		chr3	TogoVar
ELOVL5_chr6_53262404_53353950	53306230	AGGGGAGA others(82): Show AGGGGAGAGGGAGAGGGGAGAGGGGAGAGGGAGAGGGGAGAGGGGAGAGG GGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	320	0.0031	-89	c.-8- others(106): Show c.-8-10612_-8-10524delCTCTCCCTCTCCCCTCTCCCCTCTCCCC TCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCTCTCCCCTCTCCCCTC TCCCTCTCCCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
EML1_chr14_99788413_99947060	99824439	GTATGTCA others(82): Show GTATGTCAGTAATTGGCCTCGGAAATGCAAATCAAAATCACAATAATACA GCATGGATCCCTGCATACACATACTGTGTACACACATATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0102 a0002c0001t0002g0102	1	288	0.0035	-89	c.68- others(106): Show c.68-26394_68-26306delGGAAATGCAAATCAAAATCACAATAATA CAGCATGGATCCCTGCATACACATACTGTGTACACACATATATATGTCAG TAATTGGCCTC	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENOSF1_chr18_665318_717630	667233	AGATGGAG others(82): Show AGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGGA TGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	418	0.0024	-89	c.69 others(100): Show c.6983_*7071delACCATCTCCATCACCATCACCATCACCATCTCCA TCACCATCCCATCACCATCACCATCTCCATCACCATCACCATCACCATCT CCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3084		chr18	TogoVar
ENOSF1_chr18_665318_717630	667257	TGATGGAG others(82): Show TGATGGAGATGGTGATGGTGATGGGATGGTGATGGAGATGGTGATGGTGA TGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	418	0.0024	-89	c.69 others(100): Show c.6959_*7047delTCCATCACCATCTCCATCACCATCACCATCTCCA TCACCATCACCATCACCATCTCCATCACCATCCCATCACCATCACCATCT CCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3060		chr18	TogoVar
ENOSF1_chr18_665318_717630	667263	AGATGGTG others(82): Show AGATGGTGATGGTGATGGGATGGTGATGGAGATGGTGATGGTGATGGTGA TGGAGATGGTGATGGTGATGGAGATGGTGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0387 a0003c0004t0003g0387	1	418	0.0024	-89	c.69 others(100): Show c.6953_*7041delACCATCTCCATCACCATCTCCATCACCATCACCA TCTCCATCACCATCACCATCACCATCTCCATCACCATCCCATCACCATCA CCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3054		chr18	TogoVar
ERC2_chr3_55503311_56473467	55720158	TTCTTCTT others(82): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	74	0.0135	-89	c.271 others(110): Show c.2712+14524_2712+14612delGAGAGAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ESR1_chr6_151802682_152108274	151899548	GGACGGGG others(82): Show GGACGGGGCGGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTCCCTCCCG GACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCA	G G	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0223 a0001c0002t0005g0223	1	250	0.0040	-89	c.760 others(108): Show c.760+18785_760+18873delCGGCTGGCCGGGCGGGGAGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCAC TTCCCAGACGGGG	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM210A_chr18_13658347_13731558	13675576	ATTTCCAG others(82): Show ATTTCCAGTTTCCTGATTATTAACATTTCTGAGCCCTGGCCTCTTTATTT CCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01952.hp2 HG02622.hp2 others(8): Show HG01884.hp2 HG01952.hp2 HG02622.hp2 HG02717.hp1 HG02897.hp1 HG02897.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 others(1): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0035	a0001c0001t0006g0026 a0001c0001t0006g0261 a0001c0001t0006g0262 others(8): Show a0001c0001t0006g0026 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0009g0041 a0001c0001t0009g0050 a0001c0001t0014g0006 a0001c0001t0035g0044	11	326	0.0337	-89	c.474 others(106): Show c.474-3692_474-3604delAGAAGCCAGGGCTCAGGAATGTTAATAA TCAGGAAACTGGAAATAAAGAGGCCAGGGCTCAGAAATGTTAATAATCAG GAAACTGGAAA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13675621	TATTTCCA others(82): Show TATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATT TCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTC	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0139 a0001c0001t0023g0139	1	326	0.0031	-89	c.474 others(106): Show c.474-3737_474-3649delGAAGTCGGGGCTCAGGAATGTTAATAAT CAGGAAACTGGAAATAAAGAAGCCAGGGCTCAGGAATGTTAATAATCAGG AAACTGGAAAT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13676168	CGACTTCA others(82): Show CGACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGGCTTC TTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG02040.hp2 others(12): Show HG00741.hp1 HG01891.hp2 HG02040.hp2 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA18747.hp1 NA18968.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 others(12): Show a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0007g0051 a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0007g0057 a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0007g0060	15	326	0.0460	-89	c.474 others(106): Show c.474-4284_474-4196delAGGGCTCAGGAATGTTAATAATCAGGAA ACTGGAAATAAAGAAGCCGGGGCTCAGGAATGTTAATAATCAGGAAACTG GAAATGAAGTC	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FASTKD2_chr2_206760606_206801189	206780025	CTCCCCAT others(82): Show CTCCCCATACTTTGTTATTGATGTGACAGTTTACATCTTTTTATATTGTA TATCCATTAGCAAATTTTTATAGTTACAGTTATTCTTGAT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0183 a0001c0001t0014g0183	1	394	0.0025	-89	c.142 others(108): Show c.1427+5629_1427+5717delTCCCCATACTTTGTTATTGATGTGAC AGTTTACATCTTTTTATATTGTATATCCATTAGCAAATTTTTATAGTTAC AGTTATTCTTGAT	FASTKD2	ENSG00000118246.14	transcript	ENST00000402774.8	protein_coding	7/11			chr2	TogoVar
FBRSL1_chr12_132485151_132590188	132568018	AGGCCAGC others(82): Show AGGCCAGCAACCCTCTCCAGAGGGGGTAGCCCCGGCGTCTTAGGGGCCTT CGTAACCTGTGGCTGTGAGCTGTGGGGCGGGGTGTCCACG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01934.hp2 HG02723.hp1 others(1): Show HG01175.hp2 HG01934.hp2 HG02723.hp1 NA19043.hp2	a0000 a0008 a0000 a0008	a0000c0043 a0000c0062 a0008c0027 a0000c0043 a0000c0062 a0008c0027	a0000c0043t0011 a0000c0062t0055 a0008c0027t0011 others(1): Show a0000c0043t0011 a0000c0062t0055 a0008c0027t0011 a0008c0027t0026	a0000c0043t0011g0177 a0000c0062t0055g0142 a0008c0027t0011g0183 others(1): Show a0000c0043t0011g0177 a0000c0062t0055g0142 a0008c0027t0011g0183 a0008c0027t0026g0175	4	348	0.0115	-89	c.691 others(104): Show c.691+517_691+605delGTAGCCCCGGCGTCTTAGGGGCCTTCGTAA CCTGTGGCTGTGAGCTGTGGGGCGGGGTGTCCACGGGCCAGCAACCCTCT CCAGAGGGG	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132587854	CGTGAGGG others(82): Show CGTGAGGGAGCACCCTCCTGGGAGCACTCTGTGAGGAGGGGCACCTTCCT GGGAGCACTCTGTGAGGGAGCACCCTCCTGGGAGCACTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02723.hp2 others(4): Show HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG03098.hp1 HG03195.hp1	a0000 a0001 a0000 a0001	a0000c0030 a0001c0011 a0000c0030 a0001c0011	a0000c0030t0019 a0001c0011t0019 a0001c0011t0039 others(3): Show a0000c0030t0019 a0001c0011t0019 a0001c0011t0039 a0001c0011t0040 a0001c0011t0046 a0001c0011t0049	a0000c0030t0019g0145 a0000c0030t0019g0147 a0001c0011t0019g0146 others(4): Show a0000c0030t0019g0145 a0000c0030t0019g0147 a0001c0011t0019g0146 a0001c0011t0039g0339 a0001c0011t0040g0338 a0001c0011t0046g0239 a0001c0011t0049g0340	7	348	0.0201	-89	c.40 others(100): Show c.4077_*4165delGTGAGGGAGCACCCTCCTGGGAGCACTCTGTGAG GAGGGGCACCTTCCTGGGAGCACTCTGTGAGGGAGCACCCTCCTGGGAGC ACTCT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding		2667		chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132587909	CACTCTGT others(82): Show CACTCTGTGAGGGAGCACCCTCCTGGGAGCACTCTGTGAGGGAGCACCCT CCTGGGAGCACTCTGTGAGGAGGGGCACCTTCCTGGGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00733.hp1 others(51): Show HG00099.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01168.hp2 HG01175.hp2 HG01346.hp1 HG01516.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02165.hp2 HG02300.hp1 HG02602.hp1 HG02647.hp2 HG02895.hp2 HG03139.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18942.hp1 NA18950.hp2 NA18954.hp1 NA18967.hp1 NA18969.hp2 NA18975.hp1 NA18986.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19010.hp1 NA19043.hp2 NA19064.hp1 NA19065.hp1 NA19087.hp2 NA20752.hp2 NA20905.hp2	a0000 a0001 a0002 others(11): Show a0000 a0001 a0002 a0004 a0005 a0007 a0008 a0009 a0012 a0015 a0019 a0020 a0021 a0031	a0000c0019 a0000c0022 a0000c0036 others(20): Show a0000c0019 a0000c0022 a0000c0036 a0000c0039 a0000c0057 a0000c0062 a0000c0084 a0001c0003 a0001c0005 a0001c0012 a0002c0004 a0004c0013 a0004c0025 a0005c0053 a0007c0010 a0008c0027 a0009c0017 a0012c0018 a0015c0037 a0019c0082 a0020c0083 a0021c0076 a0031c0049	a0000c0019t0011 a0000c0022t0001 a0000c0036t0001 others(26): Show a0000c0019t0011 a0000c0022t0001 a0000c0036t0001 a0000c0039t0005 a0000c0039t0023 a0000c0057t0011 a0000c0062t0055 a0000c0084t0036 a0001c0003t0003 a0001c0005t0006 a0001c0005t0011 a0001c0012t0009 a0002c0004t0001 a0002c0004t0003 a0002c0004t0034 a0004c0013t0005 a0004c0025t0015 a0005c0053t0006 a0007c0010t0005 a0007c0010t0015 a0008c0027t0011 a0009c0017t0005 a0009c0017t0009 a0012c0018t0011 a0015c0037t0018 a0019c0082t0005 a0020c0083t0005 a0021c0076t0015 a0031c0049t0005	a0000c0019t0011g0313 a0000c0022t0001g0118 a0000c0022t0001g0124 others(51): Show a0000c0019t0011g0313 a0000c0022t0001g0118 a0000c0022t0001g0124 a0000c0022t0001g0134 a0000c0036t0001g0138 a0000c0039t0005g0324 a0000c0039t0023g0331 a0000c0057t0011g0066 a0000c0062t0055g0142 a0000c0084t0036g0320 a0001c0003t0003g0132 a0001c0005t0006g0049 a0001c0005t0006g0074 a0001c0005t0006g0075 a0001c0005t0006g0094 a0001c0005t0006g0267 a0001c0005t0011g0125 a0001c0012t0009g0088 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0133 a0002c0004t0001g0137 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0141 a0002c0004t0003g0104 a0002c0004t0003g0122 a0002c0004t0034g0107 a0004c0013t0005g0317 a0004c0013t0005g0322 a0004c0013t0005g0325 a0004c0013t0005g0327 a0004c0013t0005g0329 a0004c0025t0015g0287 a0005c0053t0006g0076 a0007c0010t0005g0237 a0007c0010t0005g0319 a0007c0010t0005g0328 a0007c0010t0015g0332 a0008c0027t0011g0183 a0009c0017t0005g0333 a0009c0017t0005g0335 a0009c0017t0005g0336 a0009c0017t0009g0334 a0012c0018t0011g0064 a0015c0037t0018g0072 a0019c0082t0005g0318 a0020c0083t0005g0326 a0021c0076t0015g0286 a0031c0049t0005g0225	54	348	0.1552	-89	c.41 others(100): Show c.4132_*4220delACTCTGTGAGGGAGCACCCTCCTGGGAGCACTCT GTGAGGGAGCACCCTCCTGGGAGCACTCTGTGAGGAGGGGCACCTTCCTG GGAGT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding		2722		chr12	TogoVar
FRK_chr6_115926149_116065891	115958676	GAAAGAAA others(82): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0212 a0001c0001t0008g0212	1	274	0.0037	-89	c.800 others(106): Show c.800-2155_800-2067delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7			chr6	TogoVar
FSHR_chr2_48957157_49159515	49127806	TTCTTCTT others(82): Show TTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	350	0.0029	-89	c.152 others(108): Show c.152+26371_152+26459delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAG AAGAAGAAGAAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
FUT2_chr19_48690971_48710951	48707606	TGGTGCAC others(82): Show TGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGTAGAATC ACTTGAACCCAGGAGGTGAAGTTTGCAATGAACTGACATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	394	0.0025	-89	c.36 others(100): Show c.3619_*3707delGGTGCACACCTGTAATCCCAGCTACTCGGGAGGC TGAGTCAGTAGAATCACTTGAACCCAGGAGGTGAAGTTTGCAATGAACTG ACATA	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding		1656		chr19	TogoVar
GABRG3_chr15_26966181_27546984	27388274	GGTAAGGA others(82): Show GGTAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAAGGGAGGGAGGGAAAAG AAGGAAGGAAGGAAAGGTGGGAGGGAGGGTAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0060 a0001c0004t0011g0060	1	92	0.0109	-89	c.574 others(108): Show c.574+59388_574+59476delTAAGGAAGGAAGGAAGAAAAGAAGGA AGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAGGTGGGAGGGAGG GTAAGGAAGGAAG	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89292371	TATATATA others(82): Show TATATATATCAGATATATATCGTATCTCTGATATATATATCAGATATATC GTATCTCTGATATATATATCAGATATATATCGTATCTCTG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	366	0.0027	-89	c.220 others(106): Show c.220+7299_220+7387delCAGAGATACGATATATATCTGATATATA TATCAGAGATACGATATATCTGATATATATATCAGAGATACGATATATAT CTGATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GAK_chr4_844277_937316	856278	CCTCACCA others(82): Show CCTCACCACAGCTGCTCACCCCTGCTCACCACAGCTGCTCACACCTGCTC ACCACAGCTGCTCACACCTGCTCACACCTGCTCACCACAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02055.hp2 others(14): Show HG01243.hp2 HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02280.hp2 HG02572.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp1 HG03516.hp2 NA19043.hp1 NA20129.hp2 NA21309.hp1	a0001 a0006 a0017 a0001 a0006 a0017	a0001c0002 a0006c0013 a0017c0040 a0001c0002 a0006c0013 a0017c0040	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0006c0013t0001 a0017c0040t0001	a0001c0002t0001g0018 a0001c0002t0001g0183 a0001c0002t0001g0184 others(14): Show a0001c0002t0001g0018 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0002g0182 a0001c0002t0003g0259 a0001c0002t0003g0375 a0006c0013t0001g0266 a0006c0013t0001g0270 a0006c0013t0001g0271 a0006c0013t0001g0279 a0017c0040t0001g0268	17	390	0.0436	-89	c.328 others(108): Show c.3283+3239_3283+3327delCTGTGGTGAGCAGGTGTGAGCAGGTG TGAGCAGCTGTGGTGAGCAGGTGTGAGCAGCTGTGGTGAGCAGGGGTGAG CAGCTGTGGTGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27			chr4	TogoVar
GAK_chr4_844277_937316	904240	GGGCGGCT others(82): Show GGGCGGCTCCTAACCGAGCGGGACCCGCACACAGAGGCCTTGGCAGCCGC GTGTGGAGGGAGCCACGACCTTGTGGTCCCTGTGGATGAT	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	390	0.0026	-89	c.525 others(104): Show c.525+308_525+396delATCATCCACAGGGACCACAAGGTCGTGGCT CCCTCCACACGCGGCTGCCAAGGCCTCTGTGTGCGGGTCCCGCTCGGTTA GGAGCCGCC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	5/27			chr4	TogoVar
GGT1_chr22_24598193_24633996	24605547	TTATATAT others(82): Show TTATATATTATATAATATTATATAATGTGTATTATATATATAATATTATA TAATGTGTATTATATATATAATATTATATAATGTGTATTA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0263 a0002c0004t0010g0263	1	426	0.0024	-89	c.-42 others(108): Show c.-429+2028_-429+2116delTATATAATATTATATAATGTGTATTA TATATATAATATTATATAATGTGTATTATATATATAATATTATATAATGT GTATTATATATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GPALPP1_chr13_44984538_45035305	45024173	GTGTGTGT others(82): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGACTGAGTC TCAATCTTCAAGTGTTTTTGCTTGGTATCCCCTAAAACTC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02040.hp2 HG03834.hp1 others(3): Show HG00408.hp2 HG02040.hp2 HG03834.hp1 NA18961.hp2 NA18981.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0231 a0001c0001t0003g0234 others(2): Show a0001c0001t0003g0019 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0238 a0001c0001t0003g0248	6	348	0.0172	-89	c.805 others(106): Show c.805-3576_805-3488delTTTGAGACTGAGTCTCAATCTTCAAGTG TTTTTGCTTGGTATCCCCTAAAACTCTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGT	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPER1_chr7_1083113_1098810	1090135	AAAAACAA others(82): Show AAAAACAACTCAAACCCATTTTGAAGTGTTAGTTTACTCCAGGGCACCAG CACCATCTGGGCCAGGTAATTCTCTGCTGGGCTTGGGCAC	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	446	0.0022	-89	c.-32 others(108): Show c.-322-1271_-322-1183delAAAACAACTCAAACCCATTTTGAAGT GTTAGTTTACTCCAGGGCACCAGCACCATCTGGGCCAGGTAATTCTCTGC TGGGCTTGGGCAC	GPER1	ENSG00000164850.16	transcript	ENST00000397088.4	protein_coding	1/1			chr7	TogoVar
GSG1L_chr16_27782528_28068714	27888476	CTCTTTCC others(82): Show CTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG02145.hp1 others(9): Show HG00099.hp1 HG00544.hp2 HG02145.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02630.hp1 HG04184.hp1 NA18952.hp2 NA18963.hp1 NA18998.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0038 a0001c0001t0041 a0001c0001t0045 a0001c0002t0037 a0001c0002t0046 a0002c0003t0003	a0001c0001t0001g0035 a0001c0001t0002g0179 a0001c0001t0002g0191 others(9): Show a0001c0001t0001g0035 a0001c0001t0002g0179 a0001c0001t0002g0191 a0001c0001t0002g0220 a0001c0001t0003g0127 a0001c0001t0008g0219 a0001c0001t0038g0200 a0001c0001t0041g0165 a0001c0001t0045g0175 a0001c0002t0037g0018 a0001c0002t0046g0105 a0002c0003t0003g0236	12	240	0.0500	-89	c.398 others(106): Show c.398-3927_398-3839delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGGAAAGA	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
HGFAC_chr4_3436968_3454486	3440598	TCCCAGCA others(82): Show TCCCAGCACCCACCATGCCTCCACATTCACCGTGCCCCCAGGGCCCACCA TGACCTCCCCCCCAACCCCCAACCCCCCATTCACCGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00621.hp2 others(96): Show HG00280.hp1 HG00609.hp2 HG00621.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp2 NA18946.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18966.hp2 NA18972.hp1 NA18977.hp1 NA18982.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19083.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0016 a0021	a0001c0001 a0001c0012 a0001c0013 others(15): Show a0001c0001 a0001c0012 a0001c0013 a0001c0022 a0001c0025 a0003c0003 a0003c0007 a0003c0029 a0003c0038 a0003c0050 a0004c0004 a0004c0009 a0004c0030 a0004c0035 a0004c0036 a0007c0018 a0016c0037 a0021c0049	a0001c0001t0001 a0001c0012t0001 a0001c0013t0001 others(15): Show a0001c0001t0001 a0001c0012t0001 a0001c0013t0001 a0001c0022t0001 a0001c0025t0001 a0003c0003t0001 a0003c0007t0001 a0003c0029t0001 a0003c0038t0001 a0003c0050t0001 a0004c0004t0001 a0004c0009t0001 a0004c0030t0001 a0004c0035t0001 a0004c0036t0001 a0007c0018t0001 a0016c0037t0001 a0021c0049t0001	a0001c0001t0001g0001 a0001c0001t0001g0099 a0001c0012t0001g0055 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0099 a0001c0012t0001g0055 a0001c0012t0001g0056 a0001c0012t0001g0057 a0001c0012t0001g0058 a0001c0013t0001g0022 a0001c0013t0001g0061 a0001c0022t0001g0035 a0001c0022t0001g0078 a0001c0025t0001g0059 a0001c0025t0001g0060 a0003c0003t0001g0004 a0003c0003t0001g0015 a0003c0003t0001g0040 a0003c0003t0001g0042 a0003c0007t0001g0004 a0003c0007t0001g0041 a0003c0029t0001g0015 a0003c0038t0001g0015 a0003c0050t0001g0004 a0004c0004t0001g0002 a0004c0004t0001g0029 a0004c0004t0001g0039 a0004c0004t0001g0044 a0004c0004t0001g0051 a0004c0009t0001g0011 a0004c0009t0001g0045 a0004c0009t0001g0054 a0004c0009t0001g0069 a0004c0030t0001g0104 a0004c0035t0001g0002 a0004c0036t0001g0002 a0007c0018t0001g0002 a0016c0037t0001g0004 a0021c0049t0001g0004	99	454	0.2181	-89	c.-14 others(100): Show c.-1403_-1315delCCCAGCACCCACCATGCCTCCACATTCACCGTGC CCCCAGGGCCCACCATGACCTCCCCCCCAACCCCCAACCCCCCATTCACC GTGCC	HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding		1369		chr4	TogoVar
HHAT_chr1_210323902_210681290	210389084	ACATAAAA others(82): Show ACATAAAACTGAGTAATTTTATAAAGAAAATGAACTTATTTAGTAATTTA TGAAGAAAAGGAATTTATACAGTTATGGAGGCTGGGAAGT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01081.hp1 others(9): Show HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01981.hp1 HG02300.hp2 NA18998.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0098 others(9): Show a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0150 a0001c0001t0001g0185 a0001c0001t0001g0248 a0001c0001t0002g0086 a0001c0001t0002g0105 a0001c0001t0003g0097 a0001c0001t0003g0103 a0001c0001t0003g0254	12	268	0.0448	-89	c.273 others(106): Show c.273+1594_273+1682delATAAAACTGAGTAATTTTATAAAGAAAA TGAACTTATTTAGTAATTTATGAAGAAAAGGAATTTATACAGTTATGGAG GCTGGGAAGTC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMOX1_chr22_35376096_35399207	35389306	TCTTTCTT others(82): Show TCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 NA19240.hp1 HG01884.hp1 HG02451.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038	3	384	0.0078	-89	c.637 others(104): Show c.637-542_637-454delCTTTCTTTCTTTCTTTCTTCTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCT TTCTTTCTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HMOX1_chr22_35376096_35399207	35389326	CTTTCTTT others(82): Show CTTTCTTTCTTTCTTCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0069	1	384	0.0026	-89	c.637 others(104): Show c.637-537_637-449delTTTCTTTCTTTCTTCTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4			chr22	TogoVar
HOXB5_chr17_48586257_48598779	48595906	TTTCTTCT others(82): Show TTTCTTCTGAGGCTCCTCTTCTTACTTCTAGGTAGTATGTGCTCCTTCCA GTGGCTTTGGGGAGGGGGTGGGAGAGACGACAGGTCTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	414	0.0024	-89	c.-23 others(100): Show c.-2313_-2225delCCCAGACCTGTCGTCTCTCCCACCCCCTCCCCAA AGCCACTGGAAGGAGCACATACTACCTAGAAGTAAGAAGAGGAGCCTCAG AAGAA	HOXB5	ENSG00000120075.6	transcript	ENST00000239151.6	protein_coding		2128		chr17	TogoVar
IGF2_chr11_2124117_2144389	2125404	GTAAGTGG others(82): Show GTAAGTGGGTAGATGGACAGATGAGTAGACAGATGACTGGGGGGTGGATG GAGGGCGAGTGGATGGATGGATGAGTGGGTGAGTGAGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG02965.hp1 others(9): Show HG02559.hp1 HG02647.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp2 HG06807.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0037 a0001c0001t0063 others(7): Show a0001c0001t0036 a0001c0001t0037 a0001c0001t0063 a0001c0001t0117 a0001c0001t0118 a0001c0001t0136 a0001c0001t0137 a0001c0001t0156 a0001c0001t0169 a0001c0001t0200	a0001c0001t0036g0023 a0001c0001t0037g0152 a0001c0001t0037g0173 others(8): Show a0001c0001t0036g0023 a0001c0001t0037g0152 a0001c0001t0037g0173 a0001c0001t0063g0048 a0001c0001t0117g0127 a0001c0001t0118g0131 a0001c0001t0136g0189 a0001c0001t0137g0174 a0001c0001t0156g0158 a0001c0001t0169g0218 a0001c0001t0200g0282	12	388	0.0309	-89	c.74 others(100): Show c.7494_*7582delACTCTCACTCACCCACTCATCCATCCATCCACTC GCCCTCCATCCACCCCCCAGTCATCTGTCTACTCATCTGTCCATCTACCC ACTTA	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		3712		chr11	TogoVar
IKZF3_chr17_39752718_39869312	39850159	TACTATAT others(82): Show TACTATATGTATATATACTATATAGCATATTATGTATGTATATATACTAT ATAACATATTATGTATGTATATATAATATATAGTATATAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	256	0.0039	-89	c.7+1 others(104): Show c.7+13872_7+13960delGTATATACTATATATTATATATACATACAT AATATGTTATATAGTATATATACATACATAATATGCTATATAGTATATAT ACATATAGT	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	1/7			chr17	TogoVar
IL3RA_chrX_1331785_1387689	1366237	GGGTGCGC others(82): Show GGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCCGGGTG CGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	115	0.0087	-89	c.874 others(105): Show c.874+988_874+1076delTGCGCGGGGTGAGCCGGGTGCGCGGGGTG AGCCGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCG GGTGAGCCGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366909	GGGGTGAG others(82): Show GGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGT GCGCGGGGTGCGCCGGGTGCGCGGGGTGAGCCGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0012 a0008c0009t0012	a0008c0009t0012g0041 a0008c0009t0012g0041	1	115	0.0087	-89	c.874 others(106): Show c.874+1661_874+1749delTGAGCGGGGTGCGCGGGGTGAGCCGGGT GCGCGGGGTGCGCGGGGTGCGCGGGGTGCGCCGGGTGCGCGGGGTGAGCC GGGTGCGCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367261	GGGTGAGC others(82): Show GGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTG CGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0004 a0009c0008t0004	a0009c0008t0004g0068 a0009c0008t0004g0068	1	115	0.0087	-89	c.874 others(106): Show c.874+2012_874+2100delTGAGCCGGGTGCGCGGGGTGAGCGGGGT GCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCG GGGTGAGCCGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL7_chr8_78727772_78810463	78771161	AAAACCTC others(82): Show AAAACCTCCCAACGCAATAGACATTGTGGTTTTCATTGCATATCATTCCT ATTTCTCTCTCTCCATTATTTAGCAGTAATTTTTTTAATG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1 HG00738.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205	3	264	0.0114	-89	c.147 others(108): Show c.147+26822_147+26910delCATTAAAAAAATTACTGCTAAATAAT GGAGAGAGAGAAATAGGAATGATATGCAATGAAAACCACAATGTCTATTG CGTTGGGAGGTTT	IL7	ENSG00000104432.15	transcript	ENST00000263851.9	protein_coding	2/5			chr8	TogoVar

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Search Results (Total: 10000 hits)