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
C20orf204_chr20_64031182_64044001	64042917	G G	GGGGGTCG others(95): Show GGGGGTCGTGGGGGACGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCGT GGGGGACGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGG GGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02109.hp2 others(9): Show HG01109.hp2 HG02055.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02818.hp1 HG02886.hp2 HG02976.hp2 HG03041.hp2 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	12	392	0.0306	102	c.41 others(113): Show c.4158_*4159insGGGGTCGTGGGGGACGGGGCGGGGTCGTGGGGGA CGGGACGGGGGTCGTGGGGGACGGGGCGGGGTCGTGGGGGACGGGACGGG GGTCGTGGGGGACGGGGC		C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding					3917		chr20	TogoVar
C2CD6_chr2_201482421_201624178	201595693	G G	GCTGTCAG others(95): Show GCTGTCAGACAGGGACATTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTG TTTGGCAGGGCACAGACAAACGGATACTTTTCAAAAGAAGACACACATGT GGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp2 NA19043.hp2 HG02647.hp1 HG02818.hp2 NA19043.hp2	a0025 a0029 a0032 a0025 a0029 a0032	a0025c0025 a0029c0020 a0032c0037 a0025c0025 a0029c0020 a0032c0037	a0025c0025t0001 a0029c0020t0001 a0032c0037t0001 a0025c0025t0001 a0029c0020t0001 a0032c0037t0001	a0025c0025t0001g0016 a0029c0020t0001g0015 a0032c0037t0001g0265 a0025c0025t0001g0016 a0029c0020t0001g0015 a0032c0037t0001g0265	3	270	0.0111	102	c.516 others(119): Show c.516+5944_516+6045dupGCCACATGTGTGTCTTCTTTTGAAAAGT ATCCGTTTGTCTGTGCCCTGCCAAACAAAAAGACAGCAGTAACCTCTGCA GACTTAAATGTCCCTGTCTGACAG		C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	4/15						chr2	TogoVar
C7orf50_chr7_992006_1143247	1116532	A A	AGGACCGG others(95): Show AGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGAAGCTCTAGGA CCGGCTTCCATCACCGACGCCCACGCAGGATGATGACAGCACTACAGCTC TAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02559.hp1 others(4): Show HG02109.hp2 HG02257.hp1 HG02559.hp1 HG02896.hp1 HG02897.hp1 NA18906.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0007 a0001c0001t0014 a0001c0001t0025 others(1): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0025 a0005c0007t0008	a0001c0001t0007g0159 a0001c0001t0007g0161 a0001c0001t0007g0162 others(4): Show a0001c0001t0007g0159 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0163 a0001c0001t0014g0158 a0001c0001t0025g0165 a0005c0007t0008g0164	7	326	0.0215	102	c.129 others(121): Show c.129+10724_129+10725insGTAGAGCTGTAGTGCTGTCATCATCC TGCGTGGGCGTCGGTGATGGAAGCCGGTCCTAGAGCTTCATCATCCTGCG TGGGCGTCGGTGATGGAAGCCGGTCC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
CABLES2_chr20_62383634_62412285	62397927	T T	TGGTGGTG others(95): Show TGGTGGTGGTGATGGCGGTGGTGGTGATGGTGGTGACGGTAGTGGTGGTG ATGGTGGTGACAGTGGTGATGGCGGTGGTGGTGATGGCGGTGGTGGTGAT GGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0150 a0001c0001t0019g0150	1	400	0.0025	102	c.363 others(119): Show c.363-1336_363-1335insGCCATCACCACCACCGCCATCACCACCA CCGCCATCACCACTGTCACCACCATCACCACCACTACCGTCACCACCATC ACCACCACCGCCATCACCACCACC		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CACFD1_chr9_133454978_133475848	133460459	A A	AGGGCGGG others(95): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGC GGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGG CGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	420	0.0024	102	c.121 others(117): Show c.121+298_121+299insGGCGGCGGGGGCGGGGGGGCGGCGGGGGCG GGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGC GGGGGGGCGGCGGGGGCGGGGG		CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2520779	T T	TAGGAGGG others(95): Show TAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTT CAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02257.hp2 HG02922.hp2 others(2): Show HG01106.hp2 HG02257.hp2 HG02922.hp2 HG03041.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0001c0033 a0002c0013	a0001c0001t0045 a0001c0004t0004 a0001c0007t0006 others(2): Show a0001c0001t0045 a0001c0004t0004 a0001c0007t0006 a0001c0033t0020 a0002c0013t0035	a0001c0001t0045g0052 a0001c0004t0004g0086 a0001c0007t0006g0074 others(2): Show a0001c0001t0045g0052 a0001c0004t0004g0086 a0001c0007t0006g0074 a0001c0033t0020g0070 a0002c0013t0035g0035	5	104	0.0481	102	c.139 others(121): Show c.1390+7876_1390+7877insCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTG		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520810	C C	CCCAATGG others(95): Show CCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02523.hp2 HG02809.hp2 others(4): Show HG02451.hp1 HG02523.hp2 HG02809.hp2 HG02965.hp1 HG03490.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0026 a0001c0037	a0001c0001t0001 a0001c0003t0044 a0001c0005t0002 others(4): Show a0001c0001t0001 a0001c0003t0044 a0001c0005t0002 a0001c0005t0010 a0001c0005t0026 a0001c0026t0003 a0001c0037t0006	a0001c0001t0001g0029 a0001c0003t0044g0053 a0001c0005t0002g0098 others(4): Show a0001c0001t0001g0029 a0001c0003t0044g0053 a0001c0005t0002g0098 a0001c0005t0010g0089 a0001c0005t0026g0079 a0001c0026t0003g0066 a0001c0037t0006g0025	7	104	0.0673	102	c.139 others(121): Show c.1390+7876_1390+7877insCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTG		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(95): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCG TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCAT GTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0249 a0001c0001t0005g0249	1	338	0.0030	102	c.300 others(119): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGCATGTGTAGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(95): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCA TGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCAT GTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0010 a0010	a0010c0062 a0010c0062	a0010c0062t0001 a0010c0062t0001	a0010c0062t0001g0075 a0010c0062t0001g0075	1	338	0.0030	102	c.300 others(119): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGCATGTGTAGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185820	C C	CATAGGGC others(95): Show CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGC ATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCA TGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0109 a0002c0109	a0002c0109t0001 a0002c0109t0001	a0002c0109t0001g0080 a0002c0109t0001g0080	1	338	0.0030	102	c.300 others(119): Show c.300-9152_300-9151insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGCATGT		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34						chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596304	C C	CGGAGGGA others(95): Show CGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGCAGGGCGGAGG GAGATGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGGGAGCAG GGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0195 a0001c0002t0045g0195	1	236	0.0042	102	c.237 others(119): Show c.237-1832_237-1831insAGCAGGACGGAGGGAGATGGGGGCAGGG CGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGG GAGCAGGGTGGAGGGAGATGGGGG		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATAT others(95): Show GTGTATATATATATATATTGCTATATATATATATATATATATAGCTATAT ATATATATATATATATATATATATATATATTGCTATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp1 HG01884.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0089 a0001c0009t0001g0013 a0001c0001t0001g0089 a0001c0009t0001g0013	2	118	0.0170	102	c.382 others(121): Show c.382-24831_382-24830insGTATATATATATATATTGCTATATAT ATATATATATATATAGCTATATATATATATATATATATATATATATATAT ATTGCTATATATATATATATATATAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18499637	A A	AAGAAGAA others(95): Show AAGAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAGC ACTAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAGC ACT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	200	0.0050	102	c.456 others(119): Show c.456+1161_456+1162insGAAGAACCTAGAAGCCTGGGTACTATGG CTCATGCCTGTAATCCAAGCACTAAGAACCTAGAAGCCTGGGTACTATGG CTCATGCCTGTAATCCAAGCACTA		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18499637	A A	AAGAAGAA others(95): Show AAGAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAGC ACTAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAGC ACT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA20905.hp1 NA18981.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0299 a0001c0002t0002g0046 a0001c0001t0001g0299 a0001c0002t0002g0046	2	302	0.0066	102	c.294 others(119): Show c.294+1161_294+1162insGAAGAACCTAGAAGCCTGGGTACTATGG CTCATGCCTGTAATCCAAGCACTAAGAACCTAGAAGCCTGGGTACTATGG CTCATGCCTGTAATCCAAGCACTA		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CADM2_chr3_84953989_86079429	85212844	T T	TTCTTTCT others(95): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0146 a0001c0001t0010g0146	1	146	0.0069	102	c.61+ others(121): Show c.61+253215_61+253216insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48858014	G G	GAATAGAG others(95): Show GAATAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTA GAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAATAGAATAGAATA GAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	328	0.0031	102	c.100 others(121): Show c.1008+1833_1008+1834insGTAGAGTAGAGTAGAGTAGAGTAGAG TAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAG TAGAATAGAATAGAATAGAAAATAGA		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(95): Show CACACACATATATGTATGTGTATACACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATATACACACACATATACACACACG TGT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0168 a0002c0002t0004g0168	1	262	0.0038	102	c.218 others(117): Show c.218+721_218+722insACACACATATATGTATGTGTATACACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATATAC ACACACATATACACACACGTGT		CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14						chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(95): Show CACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATATACACACACATATACACACACG TGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01168.hp2 others(1): Show HG00741.hp1 HG01074.hp1 HG01168.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0221 a0002c0002t0007g0058 a0002c0002t0007g0073 others(1): Show a0002c0002t0003g0221 a0002c0002t0007g0058 a0002c0002t0007g0073 a0002c0002t0007g0093	4	262	0.0153	102	c.218 others(117): Show c.218+721_218+722insACACACATATATGTGTGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATATAC ACACACATATACACACACGTGT		CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14						chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12825144	G G	GTTGCAGT others(95): Show GTTGCAGTTTCTTCCATTAAAATTGCCATGAGATTTGAAAATAGTTTTTA TTTTCCTAGTATTGGTACTTTTGTCTGAAAGATTTAGGTTGGGGCAAAAG TAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0037 a0001c0001t0098g0037	1	214	0.0047	102	c.922 others(117): Show c.922-426_922-425insCAGTTTCTTCCATTAAAATTGCCATGAGAT TTGAAAATAGTTTTTATTTTCCTAGTATTGGTACTTTTGTCTGAAAGATT TAGGTTGGGGCAAAAGTAATTG		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12825144	G G	GTTGCGGT others(95): Show GTTGCGGTTTCTTCCATTAAAATTGCCATGAGATTTGAAAATAGTTTTTA TTTTCCTAGTATTGGTACTTTTGTCTGAAAGATTTAGATTGGGGCAAAAG TAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00621.hp2 others(29): Show HG00099.hp1 HG00323.hp2 HG00621.hp2 HG01884.hp2 HG02055.hp2 HG02074.hp2 HG02109.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG04204.hp1 NA18522.hp2 NA18959.hp2 NA18974.hp2 NA18978.hp2 NA18989.hp1 NA18999.hp1 NA18999.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0008 a0001c0002t0015 others(16): Show a0001c0002t0004 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0001c0002t0021 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0032 a0001c0002t0054 a0001c0002t0060 a0001c0002t0061 a0001c0002t0063 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0073 a0001c0002t0107	a0001c0002t0004g0077 a0001c0002t0004g0091 a0001c0002t0004g0171 others(29): Show a0001c0002t0004g0077 a0001c0002t0004g0091 a0001c0002t0004g0171 a0001c0002t0004g0208 a0001c0002t0008g0108 a0001c0002t0008g0113 a0001c0002t0008g0153 a0001c0002t0008g0205 a0001c0002t0015g0050 a0001c0002t0015g0069 a0001c0002t0015g0148 a0001c0002t0016g0006 a0001c0002t0016g0165 a0001c0002t0016g0186 a0001c0002t0021g0023 a0001c0002t0021g0048 a0001c0002t0025g0029 a0001c0002t0025g0146 a0001c0002t0026g0166 a0001c0002t0027g0036 a0001c0002t0027g0116 a0001c0002t0032g0008 a0001c0002t0054g0019 a0001c0002t0060g0104 a0001c0002t0061g0033 a0001c0002t0063g0201 a0001c0002t0065g0140 a0001c0002t0066g0097 a0001c0002t0067g0053 a0001c0002t0068g0021 a0001c0002t0073g0058 a0001c0002t0107g0117	32	214	0.1495	102	c.922 others(117): Show c.922-426_922-425insCGGTTTCTTCCATTAAAATTGCCATGAGAT TTGAAAATAGTTTTTATTTTCCTAGTATTGGTACTTTTGTCTGAAAGATT TAGATTGGGGCAAAAGTAATTG		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12825144	G G	GTTGCGGT others(95): Show GTTGCGGTTTCTTCCATTAAAATTGCCATGAGATTTGAAAATAGTTTTTA TTTTCCTAGTATTGGTACTTTTGTCTGAAAGATTTAGGTTGGGGCAAAAG TAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(178): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(96): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0001c0001t0064 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0002t0010 a0001c0002t0011 a0001c0002t0023 a0001c0002t0024 a0001c0002t0044 a0001c0002t0045 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0055 a0001c0002t0057 a0001c0003t0007 a0001c0003t0022	a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0047 others(178): Show a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0002g0003 a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0088 a0001c0001t0002g0126 a0001c0001t0002g0139 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0206 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0045 a0001c0001t0003g0129 a0001c0001t0003g0141 a0001c0001t0003g0167 a0001c0001t0003g0180 a0001c0001t0003g0195 a0001c0001t0004g0017 a0001c0001t0004g0025 a0001c0001t0004g0134 a0001c0001t0005g0015 a0001c0001t0005g0040 a0001c0001t0005g0054 a0001c0001t0005g0062 a0001c0001t0005g0137 a0001c0001t0005g0189 a0001c0001t0005g0204 a0001c0001t0006g0073 a0001c0001t0006g0075 a0001c0001t0006g0152 a0001c0001t0006g0178 a0001c0001t0006g0187 a0001c0001t0006g0194 a0001c0001t0007g0068 a0001c0001t0007g0078 a0001c0001t0007g0183 a0001c0001t0009g0072 a0001c0001t0009g0100 a0001c0001t0009g0122 a0001c0001t0009g0213 a0001c0001t0011g0009 a0001c0001t0011g0018 a0001c0001t0012g0132 a0001c0001t0012g0169 a0001c0001t0012g0174 a0001c0001t0013g0107 a0001c0001t0013g0120 a0001c0001t0013g0155 a0001c0001t0014g0147 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0017g0159 a0001c0001t0017g0198 a0001c0001t0017g0200 a0001c0001t0018g0013 a0001c0001t0018g0090 a0001c0001t0018g0190 a0001c0001t0019g0039 a0001c0001t0019g0084 a0001c0001t0019g0086 a0001c0001t0020g0031 a0001c0001t0020g0142 a0001c0001t0020g0158 a0001c0001t0022g0070 a0001c0001t0026g0143 a0001c0001t0028g0099 a0001c0001t0028g0203 a0001c0001t0029g0059 a0001c0001t0029g0136 a0001c0001t0030g0092 a0001c0001t0030g0188 a0001c0001t0031g0168 a0001c0001t0031g0170 a0001c0001t0032g0042 a0001c0001t0033g0138 a0001c0001t0033g0185 a0001c0001t0034g0083 a0001c0001t0034g0202 a0001c0001t0035g0106 a0001c0001t0035g0145 a0001c0001t0036g0022 a0001c0001t0036g0125 a0001c0001t0037g0011 a0001c0001t0037g0052 a0001c0001t0038g0049 a0001c0001t0038g0175 a0001c0001t0039g0014 a0001c0001t0039g0157 a0001c0001t0040g0055 a0001c0001t0040g0081 a0001c0001t0041g0080 a0001c0001t0042g0085 a0001c0001t0043g0026 a0001c0001t0046g0074 a0001c0001t0047g0066 a0001c0001t0048g0182 a0001c0001t0049g0101 a0001c0001t0050g0027 a0001c0001t0056g0154 a0001c0001t0058g0093 a0001c0001t0059g0192 a0001c0001t0062g0144 a0001c0001t0064g0105 a0001c0001t0069g0044 a0001c0001t0070g0123 a0001c0001t0071g0121 a0001c0001t0072g0057 a0001c0001t0074g0060 a0001c0001t0075g0210 a0001c0001t0076g0128 a0001c0001t0077g0184 a0001c0001t0078g0199 a0001c0001t0079g0151 a0001c0001t0080g0160 a0001c0001t0081g0096 a0001c0001t0082g0067 a0001c0001t0083g0061 a0001c0001t0084g0119 a0001c0001t0085g0110 a0001c0001t0086g0181 a0001c0001t0087g0124 a0001c0001t0088g0087 a0001c0001t0089g0035 a0001c0001t0090g0115 a0001c0001t0091g0030 a0001c0001t0092g0163 a0001c0001t0093g0114 a0001c0001t0094g0094 a0001c0001t0095g0149 a0001c0001t0096g0098 a0001c0001t0097g0065 a0001c0001t0099g0043 a0001c0001t0100g0135 a0001c0001t0101g0156 a0001c0001t0102g0010 a0001c0001t0103g0162 a0001c0001t0104g0089 a0001c0001t0105g0111 a0001c0001t0106g0109 a0001c0001t0108g0020 a0001c0001t0109g0161 a0001c0001t0110g0150 a0001c0001t0111g0028 a0001c0001t0112g0038 a0001c0001t0113g0034 a0001c0002t0010g0007 a0001c0002t0010g0079 a0001c0002t0010g0209 a0001c0002t0011g0164 a0001c0002t0023g0102 a0001c0002t0023g0103 a0001c0002t0024g0127 a0001c0002t0024g0131 a0001c0002t0044g0112 a0001c0002t0045g0118 a0001c0002t0051g0179 a0001c0002t0052g0214 a0001c0002t0053g0002 a0001c0002t0055g0207 a0001c0002t0057g0005 a0001c0003t0007g0063 a0001c0003t0022g0024	181	214	0.8458	102	c.922 others(117): Show c.922-426_922-425insCGGTTTCTTCCATTAAAATTGCCATGAGAT TTGAAAATAGTTTTTATTTTCCTAGTATTGGTACTTTTGTCTGAAAGATT TAGGTTGGGGCAAAAGTAATTG		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATGTGTGT others(95): Show ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18972.hp1 NA18940.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0349 a0001c0001t0001g0230 a0001c0001t0001g0349	2	366	0.0055	102	c.645 others(119): Show c.645+1167_645+1168insGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTGTGT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATGTGTGT others(95): Show ATGTGTGTACACACACGCGCGTGTGTATGTGTGTACACACACGCGCGTGT GTATGTGTGTACACACACGCGCGTGTGTATGTGTGTACACACACGCGCGT GTG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0262 a0001c0001t0021g0262	1	366	0.0027	102	c.645 others(119): Show c.645+1167_645+1168insGTGTGTACACACACGCGCGTGTGTATGT GTGTACACACACGCGCGTGTGTATGTGTGTACACACACGCGCGTGTGTAT GTGTGTACACACACGCGCGTGTGT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816963	T T	TGTGTATG others(95): Show TGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACG CGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACA CGC	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18945.hp1 HG02273.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0197 a0001c0001t0007g0341 a0001c0001t0007g0197 a0001c0001t0007g0341	2	366	0.0055	102	c.645 others(119): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTATGTGT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816963	T T	TGTGTATG others(95): Show TGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACGCG CGTGTGTATGTGTGTACACACACGCGCGTGTGTATGTGTGTACACACACG CGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0346 a0001c0001t0007g0346	1	366	0.0027	102	c.645 others(119): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACGCGCGTGTGTATGTGTGTACACACACGCGCGTGTGTATGTGT GTACACACACGCGCGTGTATGTGT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGC others(95): Show GTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGT GTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGC GTA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	366	0.0027	102	c.645 others(119): Show c.645+1328_645+1329insCGTACACACACACGCGTGTGTATGTGCG TACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTG CGTACACACACACGCGTATATGTG		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGT others(95): Show GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03486.hp1 HG04115.hp1 others(2): Show HG02809.hp2 HG03486.hp1 HG04115.hp1 NA18941.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0001 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0246 a0001c0001t0001g0273 a0001c0001t0001g0336 others(2): Show a0001c0001t0001g0246 a0001c0001t0001g0273 a0001c0001t0001g0336 a0001c0001t0006g0211 a0001c0001t0009g0219	5	366	0.0137	102	c.645 others(119): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTATATGTGT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTGTGTGT others(95): Show GTGTGTGTGTACACACACACGCGTGTGTGTGTGTGTACACACACACGCGT GTGTGTGTGTGTACACACACACGCGTGTGTGTGTGTGTACACACACACGC GTA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	366	0.0027	102	c.645 others(119): Show c.645+1323_645+1324insGTGTGTGTACACACACACGCGTGTGTGT GTGTGTACACACACACGCGTGTGTGTGTGTGTACACACACACGCGTGTGT GTGTGTGTACACACACACGCGTAT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79005131	G G	GGGAGCTA others(95): Show GGGAGCTAGGGAGAGGGGGGGTTAGGGAGGGGGGAGTTAGGGAAGGGGGA GTTAGGGAGGGGAGTTAGGGAGAGGGGATTTAGGGAGGGGGGAGTTAGGG AGA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0234 a0001c0002t0009g0234	1	394	0.0025	102	c.-14 others(121): Show c.-147+4532_-147+4533insTCTCCCTAACTCCCCCCTCCCTAAAT CCCCTCTCCCTAACTCCCCTCCCTAACTCCCCCTTCCCTAACTCCCCCCT CCCTAACCCCCCCTCTCCCTAGCTCC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACTC others(95): Show CCACACTCACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACACATACACACTCACATACAGACACAACCACACCACACTC ACA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0242 a0004c0004t0001g0242	1	460	0.0022	102	c.193 others(119): Show c.1938+509_1938+510insTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACAC		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC38_chr12_95862048_95947614	95908443	A A	AAGAGGGA others(95): Show AAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	350	0.0029	102	c.305 others(119): Show c.305-2094_305-1993dupCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCT		CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15						chr12	TogoVar
CCDC88A_chr2_55282842_55424856	55384591	A A	ATATATAC others(95): Show ATATATACGTATATATGCGTATATATACGCATATATACGTATATATGCGT ATATATACGCATATATATATACGCATATATACGTATATATGCGTATATAT ACG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0100 a0001c0001t0011g0100	1	316	0.0032	102	c.273 others(119): Show c.273+4186_273+4187insCGTATATATACGCATATATACGTATATA TGCGTATATATATATGCGTATATATACGCATATATACGTATATATGCGTA TATATACGCATATATACGTATATA		CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32						chr2	TogoVar
CDAN1_chr15_42718544_42742128	42739770	C C	CTCCCTAT others(95): Show CTCCCTATAAGTCAAATTCAAGTTCTTATCTGGTTTGAAGAGGTGCGCCC TCATGGACTAATTTCTTAACAAGTCAAAATTATATATTATTCCTAATAAA AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	348	0.0029	102	c.-26 others(113): Show c.-2669_-2668insTTTTTTATTAGGAATAATATATAATTTTGACTTG TTAAGAAATTAGTCCATGAGGGCGCACCTCTTCAAACCAGATAAGAACTT GAATTTGACTTATAGGGA		CDAN1	ENSG00000140326.13	transcript	ENST00000356231.4	protein_coding					2643		chr15	TogoVar
CDC42BPB_chr14_102927380_103062549	102985245	G G	GTGGAGGT others(95): Show GTGGAGGTGAGGAGGGTAACCCATGTTCTGGTTATACCATGACGGGGTGG TATGGAGGTGAGGAGGGTAACCCATGTTCTGGTTATACCATGACGGGGTG GTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp1 HG02630.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0060 a0001c0003t0006g0191 a0001c0003t0006g0060 a0001c0003t0006g0191	2	320	0.0063	102	c.690 others(119): Show c.690+1241_690+1242insTACCACCCCGTCATGGTATAACCAGAAC ATGGGTTACCCTCCTCACCTCCATACCACCCCGTCATGGTATAACCAGAA CATGGGTTACCCTCCTCACCTCCA		CDC42BPB	ENSG00000198752.11	transcript	ENST00000361246.7	protein_coding	6/36						chr14	TogoVar
CDC73_chr1_193117031_193259815	193162154	C C	CTATTATA others(95): Show CTATTATATTGTATATAATATATATTATATATTATCTATTATATTGTATA TAATATATATTATATATTATCTATTATATTGTATATAATATATATTATAT ATT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	274	0.0037	102	c.972 others(119): Show c.972+9803_972+9804insTTATATATTTATTATATTGTATATAATA TATATTATATATTATCTATTATATTGTATATAATATATATTATATATTAT CTATTATATTGTATATAATATATA		CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH15_chr16_89166748_89200492	89189047	G G	GTGCCCAC others(95): Show GTGCCCACACACAGATGCCGGCACACACAGATGCCCACACACAGATGCCC ACACACAGATGCCCACGCACAGGTGCCCACACAAAGATGCCGGCACACAC AGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0291 a0003c0003t0001g0291	1	406	0.0025	102	c.978 others(117): Show c.978+781_978+882dupGGCACACACAGATGCCCACACACAGATGCC CACACACAGATGCCCACGCACAGGTGCCCACACAAAGATGCCGGCACACA CAGATGCCCACACACAGATGCC		CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CELF2_chr10_11012872_11341675	11284292	T T	TGTGGTGG others(95): Show TGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGATGAGGGATGAG TGTGTGGTGAGGGATGAGGGATGGGTGTGTGGTGGGTGGATGAGGGATGA GTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	194	0.0052	102	c.842 others(119): Show c.842-4126_842-4125insGTGGTGGGTGGATGAGGGATGAGTGCGT GGTGGGTGGATGAGGGATGAGTGTGTGGTGAGGGATGAGGGATGGGTGTG TGGTGGGTGGATGAGGGATGAGTG		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12						chr10	TogoVar
CELF4_chr18_37238040_37570798	37491204	G G	GGACGCCG others(95): Show GGACGCCGTGCCCACCTCCTCTCCTCACCCGAGAGGACGCCGTGCCCACC TCCTCTCCTCACCTGAGAGGGACGCCGTGCCCACCTCCTCTCCTCACCCG AGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0057 a0001c0001t0020g0057	1	184	0.0054	102	c.287 others(119): Show c.287-5598_287-5597insTCTCGGGTGAGGAGAGGAGGTGGGCACG GCGTCCCTCTCAGGTGAGGAGAGGAGGTGGGCACGGCGTCCTCTCGGGTG AGGAGAGGAGGTGGGCACGGCGTC		CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12						chr18	TogoVar
CELSR1_chr22_46356174_46542620	46502382	A A	AGGGAAGG others(95): Show AGGGAAGGGTAAAGTGGAAAGAAGAGGGAAGGGGAAAGGGGAGGGAAGGG GTGGGAAGGGTAAAGTGGAAAGAAGAGGGAAGGGGAAAGGGGAGGGAAGG GGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp2 HG02145.hp1 HG02818.hp2	a0017 a0018 a0017 a0018	a0017c0020 a0018c0046 a0017c0020 a0018c0046	a0017c0020t0002 a0018c0046t0001 a0017c0020t0002 a0018c0046t0001	a0017c0020t0002g0020 a0018c0046t0001g0030 a0017c0020t0002g0020 a0018c0046t0001g0030	2	104	0.0192	102	c.354 others(123): Show c.3544+31244_3544+31245insACCCCTTCCCTCCCCTTTCCCCTT CCCTCTTCTTTCCACTTTACCCTTCCCACCCCTTCCCTCCCCTTTCCCCT TCCCTCTTCTTTCCACTTTACCCTTCCC		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34						chr22	TogoVar
CEL_chr9_133056981_133076861	133071533	G G	GCCCCCCC others(95): Show GCCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCCGTGCC GCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCG GGC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG03139.hp1 HG03139.hp1	a0018 a0018	a0018c0170 a0018c0170	a0018c0170t0001 a0018c0170t0001	a0018c0170t0001g0012 a0018c0170t0001g0012	1	416	0.0024	102	c.204 others(111): Show c.2040_2041insCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCCG TGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGAC GCCGGGCCCCCCCCCC	p.Pro others(115): Show p.Pro680_Val681insArgAlaAlaHisGlyTerLeuArgGlyProPr oProCysArgProArgValThrProAlaProProProCysArgProArgV alThrProGlyProProPro	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071567	G G	GCCCCCCC others(95): Show GCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGC CCACGGGTGACGCCGGGCCCCCCCCCCGTGCCGCCCACGGGTGACTCCGG CGC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0001 a0001c0072t0001	a0001c0072t0001g0012 a0001c0072t0001g0012	1	416	0.0024	102	c.207 others(111): Show c.2073_2074insCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGT GCCGCCCACGGGTGACGCCGGGCCCCCCCCCCGTGCCGCCCACGGGTGAC TCCGGCGCCCCCCCCC	p.Pro others(115): Show p.Pro691_Val692insArgAlaAlaHisGlyTerLeuArgArgProPr oArgAlaAlaHisGlyTerArgArgAlaProProProCysArgProArgV alThrProAlaProProPro	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2096/2381	2074/2262	692/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTCT others(95): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATATATATATATAT ACGTATATATATATATACGTATATATATATACACGTATATATATATATAC ACG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0038 a0007c0018t0038	a0007c0018t0038g0282 a0007c0018t0038g0282	1	320	0.0031	102	c.204 others(121): Show c.2049+1613_2049+1614insCGTGTATATATATATATACGTGTATA TATATATACGTATATATATATATACGTATATATATATATATATATATATA TATATATATATAGAGAGAGAGAGAGA		CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23						chr9	TogoVar
CENPJ_chr13_24877279_24927861	24881850	A A	ATCTATAT others(95): Show ATCTATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT ATAGATACATCTATATAGATATATAGATACCTCTATATAGATATATAGAT ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0036 a0002c0003t0003g0036	1	440	0.0023	102	c.13 others(113): Show c.1326_*1327insGGTATCTATATATCTATATAGAGGTATCTATATA TCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATA TAGATGTATCTATATAGA		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					428		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882089	T T	TATAGATA others(95): Show TATAGATACATCTATATAGATACATCTATATAGATACATCTATATAGATA CATCTATATAGATACATCTATATAGATACATCTATATAGATACATCTATA TAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0264 a0001c0002t0001g0264	1	440	0.0023	102	c.10 others(113): Show c.1087_*1088insCTATATAGATGTATCTATATAGATGTATCTATAT AGATGTATCTATATAGATGTATCTATATAGATGTATCTATATAGATGTAT CTATATAGATGTATCTAT		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					189		chr13	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAG others(95): Show AAAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATATGTATACG GGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTTACTAT AAT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0072 a0003c0003t0003g0072	1	362	0.0028	102	c.478 others(119): Show c.478-1174_478-1173insGATGGTCCTGAGTTGATAATTGAAACTG GCCAATATGTATACGGGTGTTCATGATAACATTCTCTCTTACTGTATGTG TTTGAAATTTACTATAATAAAAAA		CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAG others(95): Show AAAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATATGTATATG GGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTTACTAT AAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 NA18906.hp1 others(4): Show HG02145.hp2 HG02809.hp2 NA18906.hp1 NA18987.hp2 NA19012.hp1 NA19081.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0002 a0003c0003t0003	a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 others(3): Show a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0224 a0003c0003t0002g0052 a0003c0003t0003g0021	7	362	0.0193	102	c.478 others(119): Show c.478-1174_478-1173insGATGGTCCTGAGTTGATAATTGAAACTG GCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTACTGTATGTG TTTGAAATTTACTATAATAAAAAA		CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP170B_chr14_104860268_104901747	104884792	C C	CCGGGGGT others(95): Show CCGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGG GAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0029 a0002c0012t0002g0029	2	328	0.0061	102	c.177 others(119): Show c.1770+243_1770+244insCGGGGGTGGAGGTGATGCCGGGGGTGGC GAGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGTGATGCCGGGGGTG GCGAGTGAGAGCCCTCGTGGGGAA		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18						chr14	TogoVar
CEP170B_chr14_104860268_104901747	104884845	G G	GGGGGGGT others(95): Show GGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGG AAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0204 a0001c0003t0002g0204	1	328	0.0031	102	c.177 others(119): Show c.1770+308_1770+309insCGATGCCGGGGGTGGCGAGTGAGAGCCC TCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCC CTCGTGGGGAACGGGGGGTGGAGG		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP72_chr5_607340_658553	649690	G G	GACTGTGA others(95): Show GACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA20752.hp2 NA20905.hp1 HG02738.hp2 NA20752.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0087 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0087	3	91	0.0330	102	c.177 others(121): Show c.1778+1774_1778+1775insACTGTGAGGCATGGACTGTGAGGTGT GACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGTGT		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11						chr5	TogoVar
CFAP276_chr1_109100951_109117747	109113390	C C	CAGAGAGA others(95): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GACCCTGTCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	404	0.0025	102	c.-71 others(111): Show c.-712_-711insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTGACAGGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT		CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding					644		chr1	TogoVar

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Search Results (Total: 10000 hits)