Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
AARS2_chr6_44293731_44318347	44296934	T T	TGGACTTG others(42): Show TGGACTTGGGCTTGGACTTGGGCTGGGTGAAACCGCCAGTTCACTTACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	396	0.0025	49	c.36 others(60): Show c.3612_*3613insTGGTAAGTGAACTGGCGGTTTCACCCAGCCCAAG TCCAAGCCCAAGTCC		AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding					1796		chr6	TogoVar
ABAT_chr16_8669617_8789570	8732898	T T	TCCGGACG others(42): Show TCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	362	0.0028	49	c.-41 others(66): Show c.-41-2767_-41-2719dupCCCCCCTACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGA		ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69177971	A A	ATATATAT others(42): Show ATATATATATATATATATATGTTATATATATATATATATATATATGTTAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0115	1	348	0.0029	49	c.277 others(68): Show c.2770-2459_2770-2458insATAACATATATATATATATATATATA TAACATATATATATATATATATA		ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38						chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177971	A A	ATATATAT others(42): Show ATATATATATATATATATATGTTATATATATATATATATATATGTTATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02074.hp1 HG02280.hp1 others(5): Show HG01261.hp1 HG02074.hp1 HG02280.hp1 NA18942.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0063 a0002c0002t0001g0101 others(5): Show a0002c0002t0001g0032 a0002c0002t0001g0063 a0002c0002t0001g0101 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0230	8	348	0.0230	49	c.277 others(68): Show c.2770-2459_2770-2458insATATAACATATATATATATATATATA TAACATATATATATATATATATA		ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38						chr17	TogoVar
ABCA13_chr7_48166458_48652497	48411310	T T	TTTTCTTT others(42): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01192.hp2 HG01952.hp2 others(6): Show HG00558.hp2 HG01192.hp2 HG01952.hp2 HG02280.hp1 HG03471.hp1 HG03540.hp2 NA18971.hp1 NA18987.hp1 NA18998.hp2	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0008 a0009 a0015 a0023 a0068	a0001c0010 a0005c0024 a0006c0007 others(5): Show a0001c0010 a0005c0024 a0006c0007 a0008c0013 a0009c0012 a0015c0025 a0023c0018 a0068c0067	a0001c0010t0002 a0005c0024t0003 a0006c0007t0003 others(6): Show a0001c0010t0002 a0005c0024t0003 a0006c0007t0003 a0008c0013t0001 a0009c0012t0002 a0015c0025t0003 a0023c0018t0001 a0023c0018t0004 a0068c0067t0009	a0001c0010t0002g0074 a0005c0024t0003g0107 a0006c0007t0003g0121 others(6): Show a0001c0010t0002g0074 a0005c0024t0003g0107 a0006c0007t0003g0121 a0008c0013t0001g0111 a0009c0012t0002g0052 a0015c0025t0003g0024 a0023c0018t0001g0110 a0023c0018t0004g0091 a0068c0067t0009g0142	9	178	0.0506	49	c.122 others(68): Show c.12228+650_12228+651insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTCTTTTCTTTTCTTT		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61					INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA4_chr1_93987834_94126148	94012894	G G	GACCTCCT others(42): Show GACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03516.hp2 HG02615.hp2 HG03516.hp2	a0003 a0003	a0003c0068 a0003c0075 a0003c0068 a0003c0075	a0003c0068t0001 a0003c0075t0001 a0003c0068t0001 a0003c0075t0001	a0003c0068t0001g0108 a0003c0075t0001g0090 a0003c0068t0001g0108 a0003c0075t0001g0090	2	306	0.0065	49	c.546 others(68): Show c.5461-1558_5461-1510dupGAAGCTCCCCAGCTCCCAGCAGCTGC CGGCCCGTGTGAGATCAGGAGGT		ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	38/49						chr1	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATACACACATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0322 a0001c0004t0014g0322	1	350	0.0029	49	c.931 others(64): Show c.931-880_931-879insGTATGTATATATATATATGTGTGTATATAT ATATATATATATATATATA		ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38						chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATACACATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp2 HG02280.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0027 a0001c0004t0014 a0001c0004t0027	a0001c0004t0014g0321 a0001c0004t0027g0320 a0001c0004t0014g0321 a0001c0004t0027g0320	2	350	0.0057	49	c.931 others(64): Show c.931-880_931-879insGTATGTATATATATATATGTGTATATATAT ATATATATATATATATATA		ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38						chr17	TogoVar
ABCC10_chr6_43422541_43455427	43450013	C C	CACCTATC others(42): Show CACCTATCCACTCCCTGGTTCAGAACAGTGTACCAGGCCTCCCCGAGCCA	frameshift_variant frameshift_variant	HIGH	NA19011.hp2 NA19011.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0004 a0000c0019t0004	a0000c0019t0004g0092 a0000c0019t0004g0092	1	342	0.0029	49	c.440 others(58): Show c.4402_4403insCCTATCCACTCCCTGGTTCAGAACAGTGTACCAGGC CTCCCCGAGCCAA	p.Asn others(6): Show p.Asn1468fs	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4631/5043	4403/4479	1468/1492		INFO_REALIGN_3_PRIME	chr6	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CCTCTCTC others(42): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0065 a0001c0005t0001g0065	1	249	0.0040	49	c.49- others(64): Show c.49-7980_49-7979insCTCTCTCTCTCTCTCTCTCTCTCTCTGTCT CTTTCTTTCTTTCTTTCTT		ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30						chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCCTC others(42): Show CTCTCCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0042 a0001c0001t0010g0042	1	249	0.0040	49	c.49- others(64): Show c.49-7977_49-7976insCCTCTCTCTCTCTCTGTCTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCT		ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99838649	A A	ACCTCCCA others(42): Show ACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGAGCCCCCCATCTC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG04204.hp1 HG01928.hp2 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0123 a0001c0002t0003g0113 a0001c0002t0002g0123 a0001c0002t0003g0113	2	336	0.0060	49	c.361 others(68): Show c.3614+2365_3614+2366insAGACGGGGCGGCTGGCCGGGCGGAGG GCTGAGCCCCCCATCTCCCTCCC		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31					INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99839217	C C	CCGGCTGG others(42): Show CCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	336	0.0030	49	c.361 others(68): Show c.3615-2736_3615-2688dupGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31					INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC4_chr13_95014835_95306451	95244644	A A	AGGAAGGA others(42): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0005 a0001c0050t0005	a0001c0050t0005g0038 a0001c0050t0005g0038	1	248	0.0040	49	c.306 others(66): Show c.306+2330_306+2331insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCC		ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30						chr13	TogoVar
ABCF3_chr3_184181199_184199005	184193134	G G	GGAGTCAT others(42): Show GGAGTCATTTGGGAGTCCTTTGCAGCTGGCTCTGAGGAGAGACCACCGAT	frameshift_variant frameshift_variant	HIGH	NA18961.hp2 NA18961.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0031 a0010c0013t0001g0031	1	416	0.0024	49	c.178 others(58): Show c.1784_1785insAGTCATTTGGGAGTCCTTTGCAGCTGGCTCTGAGGA GAGACCACCGATG	p.Arg others(5): Show p.Arg596fs	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	19/21	1794/2446	1785/2130	595/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	376	0.0027	49	c.-11 others(60): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGAGAAAGAGAA		ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding					1069		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0149 a0001c0002t0002g0150	2	316	0.0063	49	c.422 others(64): Show c.422+943_422+944insAAAAAAATATATATATATATATATATATAT ATATATATATATATATATA		ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12						chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0142 a0001c0002t0002g0142	1	316	0.0032	49	c.422 others(64): Show c.422+943_422+944insAAAAAAAAAAATATATATATATATATATAT ATATATATATATATATATA		ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12						chr20	TogoVar
ABHD15_chr17_29555547_29572037	29558337	C C	CTCTTTCT others(42): Show CTCTTTCTTTCCTTCCTTCCTTCCTTTCTTTCTTTTTCTTTCTTTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	418	0.0024	49	c.42 others(60): Show c.4223_*4224insAAGAGAAAGAAAGAAAAAGAAAGAAAGGAAGGAA GGAAGGAAAGAAAGA		ABHD15	ENSG00000168792.5	transcript	ENST00000307201.5	protein_coding					2209		chr17	TogoVar
ABR_chr17_998519_1184981	1048541	T T	TGGGCCAC others(42): Show TGGGCCACGGTCAAGAAGCTCGGCGCCCAGCTGCGCCTGGATCACATCCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG03130.hp2 others(2): Show HG02486.hp2 HG02647.hp1 HG03130.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013	a0001c0001t0001 a0001c0002t0008 a0001c0002t0011 others(2): Show a0001c0001t0001 a0001c0002t0008 a0001c0002t0011 a0001c0004t0024 a0001c0013t0018	a0001c0001t0001g0226 a0001c0002t0008g0037 a0001c0002t0011g0228 others(2): Show a0001c0001t0001g0226 a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0004t0024g0041 a0001c0013t0018g0108	5	337	0.0148	49	c.179 others(68): Show c.1791+1508_1791+1509insCGGATGTGATCCAGGCGCAGCTGGGC GCCGAGCTTCTTGACCGTGGCCC		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22						chr17	TogoVar
ABR_chr17_998519_1184981	1048635	G G	GTCCGGGG others(42): Show GTCCGGGGCCACGGTCAAGAAGCTCGGTGCCCATCTGCGCCTGGATCACC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0047 a0001c0006t0047	a0001c0006t0047g0227 a0001c0006t0047g0227	1	337	0.0030	49	c.179 others(68): Show c.1791+1414_1791+1415insGGTGATCCAGGCGCAGATGGGCACCG AGCTTCTTGACCGTGGCCCCGGA		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22						chr17	TogoVar
ABR_chr17_998519_1184981	1048795	G G	GGTCAAGA others(42): Show GGTCAAGAAGCTCGGCGCCCAGCTGTGCCTGGATCACGTCTGCGGCCACT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03453.hp2 HG01192.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0085 a0001c0002t0001 a0001c0002t0085	a0001c0002t0001g0110 a0001c0002t0085g0328 a0001c0002t0001g0110 a0001c0002t0085g0328	2	337	0.0059	49	c.179 others(68): Show c.1791+1206_1791+1254dupAGTGGCCGCAGACGTGATCCAGGCAC AGCTGGGCGCCGAGCTTCTTGAC		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22						chr17	TogoVar
ABR_chr17_998519_1184981	1054495	A A	AGGGGATG others(42): Show AGGGGATGGGGTCACAAGGAACCTGAGGGGACGGGGGCACAAGGAACCTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03453.hp2 HG01192.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0085 a0001c0002t0001 a0001c0002t0085	a0001c0002t0001g0110 a0001c0002t0085g0328 a0001c0002t0001g0110 a0001c0002t0085g0328	2	337	0.0059	49	c.156 others(68): Show c.1561+1539_1561+1540insGAGGTTCCTTGTGCCCCCGTCCCCTC AGGTTCCTTGTGACCCCATCCCC		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22						chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(42): Show TTTTATATATATATATATTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0147 a0001c0012t0001g0147	1	299	0.0033	49	c.38+ others(66): Show c.38+15957_38+15958insTATATATATATATATATATATATATATA TATAATATATATATATATAAA		ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55						chr17	TogoVar
ACCS_chr11_44061270_44089237	44074753	T T	TTTCTTTC others(42): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0112 a0002c0003t0001g0112	1	438	0.0023	49	c.489 others(62): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTTTCTCTTCTT TCTTTCTTTCTTTCTTT		ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074773	T T	TTTCTTTC others(42): Show TTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0126 a0002c0003t0001g0126	1	438	0.0023	49	c.489 others(62): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTTCTT		ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074775	T T	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0214 a0003c0002t0002g0214	1	438	0.0023	49	c.489 others(62): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTC		ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14						chr11	TogoVar
ACHE_chr7_100884994_100900888	100893725	C C	CCAAGAAG others(42): Show CCAAGAAGCGGCCATCGTACACGTCCAAGGAGGAGGCCCCACTGTAGAAG	frameshift_variant frameshift_variant	HIGH	HG02738.hp2 HG02738.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0062 a0006c0008t0001g0062	1	414	0.0024	49	c.459 others(56): Show c.459_507dupCTTCTACAGTGGGGCCTCCTCCTTGGACGTGTACGATG GCCGCTTCTTG	p.Val others(5): Show p.Val170fs	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	614/2172	507/1845	169/614			chr7	TogoVar
ACMSD_chr2_134833616_134907034	134885309	A A	ATATATAT others(42): Show ATATATATATAAATATATATGTAAATATATATTTATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp1 HG02896.hp2 HG02630.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364	3	382	0.0079	49	c.849 others(68): Show c.849+12671_849+12719dupTATATATAAATATATATGTAAATATA TATTTATATATAATATATATTTA		ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp2 HG02145.hp1 others(13): Show HG01175.hp2 HG01243.hp2 HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02723.hp2 HG02818.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp2 HG03516.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0023 a0002c0002 others(3): Show a0001c0001 a0001c0023 a0002c0002 a0002c0012 a0003c0003 a0011c0026	a0001c0001t0002 a0001c0023t0006 a0002c0002t0003 others(5): Show a0001c0001t0002 a0001c0023t0006 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0012t0006 a0003c0003t0005 a0011c0026t0003	a0001c0001t0002g0386 a0001c0023t0006g0081 a0002c0002t0003g0162 others(13): Show a0001c0001t0002g0386 a0001c0023t0006g0081 a0002c0002t0003g0162 a0002c0002t0004g0334 a0002c0002t0006g0163 a0002c0002t0006g0164 a0002c0002t0006g0194 a0002c0002t0006g0335 a0002c0012t0006g0074 a0002c0012t0006g0195 a0002c0012t0006g0196 a0002c0012t0006g0197 a0003c0003t0005g0323 a0003c0003t0005g0384 a0003c0003t0005g0385 a0011c0026t0003g0055	16	388	0.0412	49	c.33+ others(66): Show c.33+13614_33+13615insGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACSL5_chr10_112369116_112433376	112381918	T T	TTAAAAAA others(42): Show TTAAAAAAAGTTAAATGTTAAAAAATGTTAAAAAAAGTAAATAATAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18983.hp1 NA19062.hp1 others(3): Show NA18959.hp1 NA18983.hp1 NA19062.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 others(3): Show a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0292	6	364	0.0165	49	c.-30 others(66): Show c.-30+7649_-30+7650insTAAAAAAAGTTAAATGTTAAAAAATGTT AAAAAAAGTAAATAATAAAAA		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	1/20						chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAATATAT others(42): Show AAATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	364	0.0028	49	c.159 others(66): Show c.1593+781_1593+782insATATATATATATATATATATATATATAT ATATATATATATATATATATA		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ACTN2_chr1_236681499_236769631	236755708	G G	GTTAGAAC others(42): Show GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02280.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0088 a0001c0001t0018g0303 a0001c0001t0018g0088 a0001c0001t0018g0303	2	344	0.0058	49	c.215 others(66): Show c.2154+523_2154+524insAATAGAGTATATACTGCAGAGGGCCCGC TGCCACCATTAGAACCCTGGT		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755757	G G	GTTAGAAC others(42): Show GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0005 a0001c0029t0005	a0001c0029t0005g0107 a0001c0029t0005g0107	1	344	0.0029	49	c.215 others(66): Show c.2154+593_2154+594insGGCCCGCTGCCACCATTAGAACCCTGGT AATAGAGTATATACTGCAGAG		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755967	A A	AATAGAGT others(42): Show AATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02280.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0088 a0001c0001t0018g0303 a0001c0001t0018g0088 a0001c0001t0018g0303	2	344	0.0058	49	c.215 others(66): Show c.2154+789_2154+790insTGCCCGCTGCCACTGTTAGAACCGTGGT TATAGAGTATATACTGCAGAG		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756233	T T	TGCCCGCT others(42): Show TGCCCGCTGCCACTGTTAGAACGCTGGTAATAGAGTATATACTGCAGAGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG01496.hp2 others(24): Show HG00673.hp1 HG00738.hp1 HG01496.hp2 HG02027.hp2 HG02698.hp1 HG03017.hp2 HG03492.hp1 HG03831.hp1 HG04115.hp2 NA18943.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18969.hp2 NA18979.hp1 NA18990.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19062.hp2 NA19063.hp2 NA19077.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0016 others(2): Show a0001c0001 a0001c0003 a0001c0016 a0001c0024 a0005c0033	a0001c0001t0003 a0001c0003t0021 a0001c0016t0003 others(2): Show a0001c0001t0003 a0001c0003t0021 a0001c0016t0003 a0001c0024t0003 a0005c0033t0003	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 others(24): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0105 a0001c0001t0003g0138 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0202 a0001c0001t0003g0210 a0001c0001t0003g0234 a0001c0001t0003g0249 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0299 a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0003t0021g0125 a0001c0016t0003g0108 a0001c0024t0003g0014 a0005c0033t0003g0169	27	344	0.0785	49	c.215 others(68): Show c.2154+1056_2154+1057insGCTGGTAATAGAGTATATACTGCAGA GGGCCCGCTGCCACTGTTAGAAC		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756335	C C	CGCTGCCA others(42): Show CGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG01496.hp2 others(21): Show HG00673.hp1 HG00738.hp1 HG01496.hp2 HG02027.hp2 HG02698.hp1 HG03017.hp2 HG03492.hp1 HG04115.hp2 NA18943.hp1 NA18945.hp2 NA18949.hp2 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18969.hp2 NA18979.hp1 NA18990.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19062.hp2 NA19063.hp2 NA19077.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0016 others(2): Show a0001c0001 a0001c0003 a0001c0016 a0001c0024 a0005c0033	a0001c0001t0003 a0001c0003t0021 a0001c0016t0003 others(2): Show a0001c0001t0003 a0001c0003t0021 a0001c0016t0003 a0001c0024t0003 a0005c0033t0003	a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0026 others(21): Show a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0105 a0001c0001t0003g0138 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0202 a0001c0001t0003g0210 a0001c0001t0003g0234 a0001c0001t0003g0249 a0001c0001t0003g0268 a0001c0001t0003g0299 a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0003t0021g0125 a0001c0016t0003g0108 a0001c0024t0003g0014 a0005c0033t0003g0169	24	344	0.0698	49	c.215 others(68): Show c.2155-1128_2155-1127insAATAGAGTATATACTGCAGAGTGCCT GCTGCCACTGTTAGAACCCTGGT		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756344	T T	TGTTAGAA others(42): Show TGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0083 a0001c0007t0004g0083	1	344	0.0029	49	c.215 others(68): Show c.2155-1128_2155-1127insAATAGAGTATATACTGCAGAGTGCCC GCTGCCACCGTTAGAACCCTGGT		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756369	A A	ATACTGCA others(42): Show ATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp1 HG02895.hp2 others(1): Show HG02559.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0004 a0001c0001t0004 a0001c0007t0004	a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0078 others(1): Show a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0078 a0001c0007t0004g0112	4	344	0.0116	49	c.215 others(68): Show c.2155-1092_2155-1044dupGTTAGAACCCTGGTTATAGAGTATGT ACTGCAGAGTGCCCGCTGCCACC		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756457	A A	AATAGAGT others(42): Show AATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp1 others(36): Show HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00673.hp1 HG00738.hp1 HG01175.hp1 HG01261.hp1 HG01496.hp2 HG02027.hp2 HG02083.hp1 HG02602.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG03017.hp2 HG03492.hp1 HG03710.hp2 HG04115.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18967.hp2 NA18969.hp2 NA18979.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19062.hp2 NA19063.hp2 NA19077.hp1 NA19086.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0016 a0005c0033	a0001c0001t0003 a0001c0003t0003 a0001c0003t0021 others(3): Show a0001c0001t0003 a0001c0003t0003 a0001c0003t0021 a0001c0009t0003 a0001c0016t0003 a0005c0033t0003	a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 others(36): Show a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0111 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0147 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0202 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0238 a0001c0001t0003g0249 a0001c0001t0003g0268 a0001c0001t0003g0279 a0001c0001t0003g0284 a0001c0001t0003g0299 a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0001t0003g0336 a0001c0001t0003g0339 a0001c0001t0003g0343 a0001c0003t0003g0058 a0001c0003t0021g0125 a0001c0009t0003g0012 a0001c0016t0003g0108 a0005c0033t0003g0169	39	344	0.1134	49	c.215 others(66): Show c.2155-996_2155-995insTGTTAGAACCGTGGTTATAGAGTATATA CTGCAGAGTGCCCGCTGCCAC		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756483	G G	GCTGCCAC others(42): Show GCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTACAGAGTGCCCA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03471.hp1 HG03195.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0067 a0001c0001t0011g0090 a0001c0001t0011g0067 a0001c0001t0011g0090	2	344	0.0058	49	c.215 others(66): Show c.2155-996_2155-995insTGTTAGAACCCTGGTTATAGAGTATATA CTACAGAGTGCCCACTGCCAC		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756541	G G	GTTAGAAC others(42): Show GTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0170 a0001c0003t0002g0170	1	344	0.0029	49	c.215 others(66): Show c.2155-932_2155-931insTATAGAGTATATACTGCAGAGTGCCCGC TGCCACCATTAGAACCCTGGT		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756696	C C	CCTGGTAA others(42): Show CCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19072.hp1 NA19068.hp1 NA19072.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0013 a0001c0009t0003g0038 a0001c0009t0003g0013 a0001c0009t0003g0038	2	344	0.0058	49	c.215 others(66): Show c.2155-764_2155-763insTGCCCGCTGCCACTGTTAGAACGCTGGT AATAGAGTATATACTGCAGAG		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756825	C C	CGCTGCCA others(42): Show CGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	344	0.0029	49	c.215 others(66): Show c.2155-653_2155-652insTGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGTGCCTGCTGCCAC		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756826	G G	GCTGCCAC others(42): Show GCTGCCACTGTTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0151 a0001c0001t0005g0151	1	344	0.0029	49	c.215 others(66): Show c.2155-653_2155-652insTGTTAGAACCGTGGTTATAGAGTATATA CTGCAGAGTGCCCACTGCCAC		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756898	A A	AATAGAGT others(42): Show AATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0005 a0001c0029t0005	a0001c0029t0005g0107 a0001c0029t0005g0107	1	344	0.0029	49	c.215 others(66): Show c.2155-568_2155-567insGGCCCGCTGCCACCGTTAGAACCCTGGT TATAGAGTATATACTGCAGAG		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	230	0.0044	49	c.324 others(68): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATATATA		ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM28_chr8_24289069_24364014	24304738	T T	TACCTCTA others(42): Show TACCTCTAATCCCAACTACTAAGGAGGCTGAGGCAGGAGAATCATTGGAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0045 a0002c0003t0045	a0002c0003t0045g0273 a0002c0003t0045g0273	1	348	0.0029	49	c.150 others(66): Show c.150+4711_150+4759dupACCTCTAATCCCAACTACTAAGGAGGCT GAGGCAGGAGAATCATTGGAA		ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS12_chr5_33518535_33896990	33626521	A A	AATGGTGG others(42): Show AATGGTGGTGGTGATTTAATGGTAATGATGGTGGTGGTGGTGGTGATGTG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	224	0.0045	49	c.202 others(68): Show c.2023-2219_2023-2171dupCACATCACCACCACCACCACCATCAT TACCATTAAATCACCACCACCAT		ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	13/23						chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	306	0.0033	49	c.161 others(68): Show c.1614+1906_1614+1907insAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATA		ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38						chr12	TogoVar

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Search Results (Total: 2057 hits)