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
BID_chr22_17729138_17779469	17739347	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18967.hp1 NA19088.hp1 NA18967.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0156 a0002c0002t0002g0089 a0002c0002t0002g0156	2	362	0.0055	0	c.363 others(5): Show c.363+2T>C		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	4/5						chr22	TogoVar
BLTP1_chr4_122147331_122367752	122316549	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	336	0.0030	0	c.107 others(7): Show c.10740+1G>A		BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	62/87						chr4	TogoVar
BLZF1_chr1_169363195_169393305	169368343	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	366	0.0027	0	c.-51 others(5): Show c.-51+1G>A		BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding	1/6						chr1	TogoVar
BOC_chr3_113206557_113292459	113216267	TAGA TAGA	T T	splice_donor_variant others(2): Show splice_donor_variant 5_prime_UTR_variant intron_variant	HIGH	HG01081.hp1 HG01256.hp2 HG01358.hp1 others(9): Show HG01081.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp2 HG02896.hp2 NA18961.hp2 NA18972.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0011c0026	a0001c0001t0015 a0001c0002t0026 a0001c0002t0047 others(4): Show a0001c0001t0015 a0001c0002t0026 a0001c0002t0047 a0001c0006t0051 a0002c0004t0015 a0002c0004t0029 a0011c0026t0015	a0001c0001t0015g0371 a0001c0001t0015g0372 a0001c0001t0015g0373 others(9): Show a0001c0001t0015g0371 a0001c0001t0015g0372 a0001c0001t0015g0373 a0001c0002t0026g0274 a0001c0002t0026g0360 a0001c0002t0026g0361 a0001c0002t0047g0363 a0001c0006t0051g0194 a0002c0004t0015g0357 a0002c0004t0029g0362 a0002c0004t0029g0374 a0011c0026t0015g0375	12	386	0.0311	-3	c.-83 others(12): Show c.-83_-82+1delAAG		BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/20				33528	INFO_REALIGN_3_PRIME	chr3	TogoVar
BORCS8_chr19_19171906_19197152	19180685	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	428	0.0023	0	c.42 others(5): Show c.42+1G>T		BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5						chr19	TogoVar
BPHL_chr6_3113711_3158578	3127410	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01891.hp2 HG02055.hp1 HG02109.hp2 others(14): Show HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02896.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp1 HG06807.hp1 NA18906.hp2 NA18957.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0005t0005	a0001c0001t0001g0017 a0001c0001t0001g0147 a0001c0001t0002g0018 others(9): Show a0001c0001t0001g0017 a0001c0001t0001g0147 a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0228 a0001c0001t0002g0260 a0001c0001t0004g0044 a0001c0001t0005g0047 a0001c0001t0009g0037 a0001c0001t0013g0049 a0001c0005t0005g0019 a0001c0005t0005g0226	17	350	0.0486	0	c.378 others(5): Show c.378+2T>C		BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	3/6						chr6	TogoVar
BPIFA1_chr20_33230996_33248306	33241470	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	382	0.0026	0	c.666 others(5): Show c.666+1G>A		BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding	6/8						chr20	TogoVar
BPIFB2_chr20_33002704_33028703	33006981	TCCTTGGG others(856): Show TCCTTGGGTCCCATCCAGCCAAGGCGGAGGCTGACGTTTGTAATGTGGAA AGAGACCGTGGACTAATCCATTGTGAGTGGAATGTGCATTTGGAGAGAGG CTGGGATGTTAAGCTGTGGGGACAGGTCACGCACACTTTCTCTTCTGTTC CCTTCTGAGTTAGGGCTCAGTTTGTGACTGGGATCAGGGCTCAGCATGTG ATCAGGGTCAGAGCTCAGTAACTGGGGTCAGGACTCAGTGTGTGAATATG TGACAGGGTCAGGGCTCAGTCAATGACTGAGGATGGTGCTCAGGTAGCCT TCTGCCCCTCCTAAAAGGGTCATGTTTCCGAGAGAGCTTGGAGGTACCAG GCTTGAGGGGTCATTGCAGCCATCCCCTTGCCTATGGGAGGGGGGATGGG GTCCTCATGGGCCCCATCCTCCCAGGCCTTGGCTGGGCATGATAAGATAC CCTCCTAGAAGCAGCTTTCCTTCCAGAGATCTCCTGGCCCTCACTAAGGC CATAGCTGCCTAGCCCCAGGGGCTTGTAGTGGTTGGGAGCTGGGCCTGGC TACTGGCTACGTGGCAGCCCCAGCGCACATGTGGGATGAGACACTTTGGC AAAGGCCATGTTTGCAGGGAAAACACTTGCAACCACAAGCAAACTCGCCG CTCCCTGGGTCCCTTCCCAGTGGACTCTGCACATTGGGAGCCTTATAAAG TAGCCTCTGCATCTGCCTGCCTCGGGCAGAGGAGGGCTACCCTGGGGCTG AGAGTTCACCTGTCTCAGGAACCACCTGAGGTAGGCATGGGGCTGGGCTG GTACACCACTTCCAAGGAGGCTTGGCTTCTCTATCTGTTCAGTGGGGATG CTACCTCCAGCCAC	T T	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	388	0.0026	-863	c.-81 others(11): Show c.-813_-35+84del		BPIFB2	ENSG00000078898.7	transcript	ENST00000170150.4	protein_coding	1/16						chr20	TogoVar
BPIFC_chr22_32408845_32469446	32432372	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0282 a0002c0002t0002g0282	1	422	0.0024	0	c.114 others(6): Show c.1149+1G>A		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	12/16						chr22	TogoVar
BRI3_chr7_98276686_98296545	98281908	CGCCGCCG others(27): Show CGCCGCCGCCCTACCCCTACCTCGTCACAGGTGGG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19086.hp1 NA19086.hp1	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0002 a0000c0006t0002	a0000c0006t0002g0050 a0000c0006t0002g0050	1	414	0.0024	-34	c.114 others(43): Show c.114_142+5delGCCGCCGCCCTACCCCTACCTCGTCACAGGTGGG	p.Pro others(4): Show p.Pro39fs	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding	1/3	224/790	114/378	38/125			chr7	TogoVar
BSCL2_chr11_62685275_62712424	62700548	GGAGAATC others(3331): Show GGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGT GCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAA ATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTA ATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAG TTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATA CAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAG GAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTG AAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCT GTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCT TGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAG GTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCT TTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATA AATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAG CTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATA TTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGA TGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTG AAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACAT CATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGT TAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTAT AATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGT GAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGG GAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACAT GGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGT GGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCG CTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCA ATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAG AAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTC TAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAG TTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACAC CTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTC CTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCA TTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAA CCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAG TAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACC TCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGT GAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGG CCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTC TCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGAC ATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGG TCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTC CATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCT TCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATG TGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACT TCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGA GATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTT GATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAAT CCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTT TAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACA AAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGAC GCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGC CAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCAT CTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTG ATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGG ATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAA ATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACG TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGG TTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGC GCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTT TCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCT GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCG GCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAA AAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTA AGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCT GTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGC AGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01952.hp2 HG01952.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0197 a0004c0008t0001g0197	1	330	0.0030	-3338	c.405 others(17): Show c.405-1337_486+1919del		BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/11						chr11	TogoVar
BST1_chr4_15698065_15737787	15722935	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18949.hp2 NA18989.hp2 NA19058.hp2 NA18949.hp2 NA18989.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238	3	442	0.0068	0	c.851 others(5): Show c.851+1G>A		BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding	8/8						chr4	TogoVar
BTN3A2_chr6_26360198_26383312	26368051	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show HG00099.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG02040.hp1 HG02135.hp2 HG02155.hp2 HG02523.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02922.hp2 HG03017.hp1 HG03669.hp2 HG03927.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18952.hp2 NA18962.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18976.hp1 NA18983.hp1 NA18994.hp2 NA19003.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA20905.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0004c0005 a0005c0006	a0004c0005t0003 a0004c0005t0049 a0005c0006t0003 a0004c0005t0003 a0004c0005t0049 a0005c0006t0003	a0004c0005t0003g0001 a0004c0005t0003g0029 a0004c0005t0003g0030 others(6): Show a0004c0005t0003g0001 a0004c0005t0003g0029 a0004c0005t0003g0030 a0004c0005t0003g0056 a0004c0005t0049g0001 a0005c0006t0003g0001 a0005c0006t0003g0029 a0005c0006t0003g0057 a0005c0006t0003g0058	35	382	0.0916	0	c.-6+ others(4): Show c.-6+1G>A		BTN3A2	ENSG00000186470.14	transcript	ENST00000377708.7	protein_coding	2/10						chr6	TogoVar
BTN3A2_chr6_26360198_26383312	26370605	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01256.hp2 HG01258.hp2 HG02451.hp2 others(3): Show HG01256.hp2 HG01258.hp2 HG02451.hp2 HG03130.hp2 HG03710.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0010 a0003c0009 a0001c0010 a0003c0009	a0001c0010t0017 a0003c0009t0006 a0001c0010t0017 a0003c0009t0006	a0001c0010t0017g0124 a0001c0010t0017g0125 a0001c0010t0017g0166 others(3): Show a0001c0010t0017g0124 a0001c0010t0017g0125 a0001c0010t0017g0166 a0003c0009t0006g0164 a0003c0009t0006g0165 a0003c0009t0006g0193	6	382	0.0157	0	c.715 others(5): Show c.715+2T>G		BTN3A2	ENSG00000186470.14	transcript	ENST00000377708.7	protein_coding	5/10						chr6	TogoVar
BTN3A2_chr6_26360198_26383312	26373414	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	382	0.0026	0	c.964 others(5): Show c.964+1G>A		BTN3A2	ENSG00000186470.14	transcript	ENST00000377708.7	protein_coding	8/10						chr6	TogoVar
C10orf71_chr10_49294170_49332492	49299234	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02735.hp1 HG03834.hp1 HG02735.hp1 HG03834.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0054 a0002c0001t0001g0055 a0002c0001t0001g0054 a0002c0001t0001g0055	2	424	0.0047	0	c.-24 others(6): Show c.-248+1G>A		C10orf71	ENSG00000177354.12	transcript	ENST00000374144.8	protein_coding	1/2						chr10	TogoVar
C12orf50_chr12_87975035_88034401	88029312	TCTTAAAG others(192): Show TCTTAAAGACATTTAAATTAGAAGATACCTTCTCTAGCTTTGCAGAAACG CTGAAAGTGGTTGCTAGTAAGCACACAAACTCAAACTTCTAGAATTTTCC TCATTGTTACCTAATCCATTGTTTGCTCATCATAAATGACCTCACATGTA ACTGCAGGCCAATGTTCACTCAGGTAAACTACAGTTTACCTGAGTGAACA	T T	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	272	0.0037	-199	c.-28 others(12): Show c.-280_-109+27del		C12orf50	ENSG00000165805.10	transcript	ENST00000298699.7	protein_coding	1/13						chr12	TogoVar
C12orf54_chr12_48477498_48501524	48494980	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01099.hp1 HG01167.hp1 HG02258.hp1 others(34): Show HG01099.hp1 HG01167.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0091 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0087 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0102	37	436	0.0849	0	c.40 others(5): Show c.40+1G>A		C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding	8/8						chr12	TogoVar
C13orf46_chr13_113948705_113979076	113968465	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(115): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0008t0001 a0002c0002t0004 a0002c0002t0043 a0002c0002t0044 a0003c0003t0014 a0004c0004t0002 a0004c0004t0025 a0005c0005t0001 a0006c0007t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(241): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0083 a0001c0001t0002g0102 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0003g0003 a0001c0001t0003g0032 a0001c0001t0003g0044 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0143 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0005g0009 a0001c0001t0005g0029 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0006g0005 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0007g0023 a0001c0001t0007g0048 a0001c0001t0007g0138 a0001c0001t0007g0144 a0001c0001t0007g0164 a0001c0001t0008g0006 a0001c0001t0008g0036 a0001c0001t0009g0056 a0001c0001t0009g0061 a0001c0001t0009g0216 a0001c0001t0009g0232 a0001c0001t0009g0243 a0001c0001t0010g0020 a0001c0001t0010g0045 a0001c0001t0010g0130 a0001c0001t0010g0177 a0001c0001t0011g0017 a0001c0001t0011g0147 a0001c0001t0011g0162 a0001c0001t0011g0163 a0001c0001t0012g0007 a0001c0001t0013g0031 a0001c0001t0013g0085 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0015g0022 a0001c0001t0015g0140 a0001c0001t0015g0142 a0001c0001t0015g0146 a0001c0001t0016g0016 a0001c0001t0016g0137 a0001c0001t0016g0245 a0001c0001t0017g0211 a0001c0001t0018g0011 a0001c0001t0019g0075 a0001c0001t0019g0076 a0001c0001t0019g0077 a0001c0001t0019g0078 a0001c0001t0020g0015 a0001c0001t0021g0049 a0001c0001t0021g0134 a0001c0001t0022g0053 a0001c0001t0022g0168 a0001c0001t0022g0182 a0001c0001t0023g0038 a0001c0001t0023g0115 a0001c0001t0024g0021 a0001c0001t0025g0046 a0001c0001t0026g0024 a0001c0001t0027g0190 a0001c0001t0027g0192 a0001c0001t0028g0059 a0001c0001t0029g0037 a0001c0001t0030g0097 a0001c0001t0030g0101 a0001c0001t0031g0033 a0001c0001t0032g0034 a0001c0001t0033g0095 a0001c0001t0033g0100 a0001c0001t0034g0055 a0001c0001t0035g0052 a0001c0001t0036g0145 a0001c0001t0036g0149 a0001c0001t0037g0127 a0001c0001t0037g0128 a0001c0001t0038g0133 a0001c0001t0038g0155 a0001c0001t0039g0051 a0001c0001t0040g0160 a0001c0001t0040g0176 a0001c0001t0041g0047 a0001c0001t0042g0065 a0001c0001t0045g0179 a0001c0001t0046g0238 a0001c0001t0047g0201 a0001c0001t0048g0220 a0001c0001t0049g0224 a0001c0001t0050g0193 a0001c0001t0051g0210 a0001c0001t0052g0214 a0001c0001t0053g0229 a0001c0001t0054g0237 a0001c0001t0055g0195 a0001c0001t0056g0231 a0001c0001t0057g0217 a0001c0001t0058g0228 a0001c0001t0059g0212 a0001c0001t0060g0204 a0001c0001t0061g0218 a0001c0001t0062g0187 a0001c0001t0063g0114 a0001c0001t0064g0113 a0001c0001t0065g0185 a0001c0001t0066g0109 a0001c0001t0067g0107 a0001c0001t0068g0108 a0001c0001t0069g0104 a0001c0001t0070g0105 a0001c0001t0071g0184 a0001c0001t0072g0106 a0001c0001t0073g0112 a0001c0001t0074g0111 a0001c0001t0075g0110 a0001c0001t0076g0096 a0001c0001t0077g0188 a0001c0001t0078g0186 a0001c0001t0079g0079 a0001c0001t0080g0081 a0001c0001t0081g0148 a0001c0001t0082g0129 a0001c0001t0083g0093 a0001c0001t0084g0092 a0001c0001t0085g0150 a0001c0001t0086g0151 a0001c0001t0087g0152 a0001c0001t0088g0246 a0001c0001t0089g0118 a0001c0001t0090g0153 a0001c0001t0091g0119 a0001c0001t0092g0120 a0001c0001t0093g0121 a0001c0001t0094g0165 a0001c0001t0095g0126 a0001c0001t0096g0154 a0001c0001t0097g0181 a0001c0001t0098g0124 a0001c0001t0099g0156 a0001c0001t0100g0157 a0001c0001t0101g0084 a0001c0001t0102g0158 a0001c0001t0103g0183 a0001c0001t0104g0122 a0001c0001t0105g0139 a0001c0001t0106g0167 a0001c0001t0107g0123 a0001c0001t0108g0175 a0001c0001t0109g0159 a0001c0001t0110g0103 a0001c0001t0111g0171 a0001c0001t0112g0161 a0001c0008t0001g0206 a0002c0002t0004g0012 a0002c0002t0004g0019 a0002c0002t0004g0067 a0002c0002t0004g0068 a0002c0002t0004g0069 a0002c0002t0004g0071 a0002c0002t0043g0070 a0002c0002t0044g0066 a0003c0003t0014g0013 a0003c0003t0014g0072 a0003c0003t0014g0073 a0004c0004t0002g0247 a0004c0004t0025g0248 a0005c0005t0001g0074 a0006c0007t0001g0205 a0007c0006t0001g0199	406	414	0.9807	0	c.456 others(5): Show c.456+2T>C		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	4/6						chr13	TogoVar
C16orf96_chr16_4551340_4605758	4599365	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	278	0.0036	0	c.320 others(6): Show c.3208+1G>A		C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	15/15						chr16	TogoVar
C17orf80_chr17_73227433_73253959	73233326	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	384	0.0026	0	c.-8+ others(4): Show c.-8+1G>A		C17orf80	ENSG00000141219.16	transcript	ENST00000535032.7	protein_coding	2/5						chr17	TogoVar
C17orf80_chr17_73227433_73253959	73242352	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00544.hp1 NA19002.hp2 HG00544.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0095 a0001c0002t0002g0072 a0001c0002t0002g0095	2	384	0.0052	0	c.162 others(6): Show c.1621+1G>A		C17orf80	ENSG00000141219.16	transcript	ENST00000535032.7	protein_coding	4/5						chr17	TogoVar
C17orf99_chr17_78141385_78171297	78164365	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0139 a0001c0001t0006g0139	1	446	0.0022	0	c.640 others(5): Show c.640+1G>A		C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding	4/4						chr17	TogoVar
C1QTNF5_chr11_119333942_119345883	119340693	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18967.hp2 NA18967.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0013 a0003c0004t0007g0013	1	388	0.0026	0	c.-44 others(5): Show c.-44+2T>G		C1QTNF5	ENSG00000223953.6	transcript	ENST00000528368.3	protein_coding	1/2						chr11	TogoVar
C1QTNF8_chr16_1083226_1101244	1093496	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01516.hp2 HG01516.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0031 a0005c0009t0031	a0005c0009t0031g0066 a0005c0009t0031g0066	1	396	0.0025	0	c.4+ others(4): Show c.4+1G>T		C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4						chr16	TogoVar
C1orf105_chr1_172415685_172473829	172462246	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00741.hp1 HG01081.hp2 others(11): Show HG00099.hp1 HG00741.hp1 HG01081.hp2 HG01123.hp2 HG01168.hp1 HG01346.hp2 HG02109.hp2 HG02976.hp1 HG03209.hp2 HG03486.hp2 HG03491.hp1 HG03654.hp2 HG03710.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0006 a0003c0003t0002 a0003c0003t0006	a0003c0003t0002g0009 a0003c0003t0002g0094 a0003c0003t0002g0108 others(8): Show a0003c0003t0002g0009 a0003c0003t0002g0094 a0003c0003t0002g0108 a0003c0003t0002g0109 a0003c0003t0002g0141 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0006g0146	14	320	0.0438	0	c.341 others(5): Show c.341+1G>A		C1orf105	ENSG00000180999.11	transcript	ENST00000367727.9	protein_coding	5/6						chr1	TogoVar
C1orf127_chr1_10941475_10987076	10949622	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02056.hp1 HG02145.hp1 HG02155.hp1 others(20): Show HG02056.hp1 HG02145.hp1 HG02155.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03834.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0003 a0005 a0008 others(3): Show a0003 a0005 a0008 a0010 a0011 a0014	a0003c0006 a0003c0014 a0005c0008 others(4): Show a0003c0006 a0003c0014 a0005c0008 a0008c0026 a0010c0020 a0011c0019 a0014c0018	a0003c0006t0004 a0003c0006t0012 a0003c0014t0004 others(5): Show a0003c0006t0004 a0003c0006t0012 a0003c0014t0004 a0005c0008t0004 a0008c0026t0004 a0010c0020t0005 a0011c0019t0004 a0014c0018t0004	a0003c0006t0004g0034 a0003c0006t0004g0086 a0003c0006t0004g0113 others(20): Show a0003c0006t0004g0034 a0003c0006t0004g0086 a0003c0006t0004g0113 a0003c0006t0004g0220 a0003c0006t0004g0257 a0003c0006t0004g0327 a0003c0006t0004g0343 a0003c0006t0004g0363 a0003c0006t0004g0367 a0003c0006t0004g0374 a0003c0006t0012g0341 a0003c0014t0004g0084 a0005c0008t0004g0012 a0005c0008t0004g0026 a0005c0008t0004g0032 a0005c0008t0004g0101 a0005c0008t0004g0332 a0005c0008t0004g0333 a0005c0008t0004g0350 a0008c0026t0004g0116 a0010c0020t0005g0030 a0011c0019t0004g0360 a0014c0018t0004g0336	23	392	0.0587	0	c.129 others(6): Show c.1290+2C>T		C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	11/12						chr1	TogoVar
C20orf203_chr20_32626625_32678941	32649254	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	360	0.0028	0	c.11 others(7): Show c.1177+1G>C		C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	4/5						chr20	TogoVar
C2_chr6_31922717_31950672	31934288	ATGGTGGA others(21): Show ATGGTGGACAGGGTCAGGAATCAGGAGTC	A A	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG00323.hp2 HG01123.hp1 HG00323.hp2 HG01123.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0084 a0004c0005t0001g0087 a0004c0005t0001g0084 a0004c0005t0001g0087	2	395	0.0051	-28	c.841 others(38): Show c.841_849+19delGTGGACAGGGTCAGGAATCAGGAGTCTG	p.Val others(13): Show p.Val281_Arg283del	C2	ENSG00000166278.16	transcript	ENST00000299367.10	protein_coding	6/18	877/2610	841/2259	281/752		INFO_REALIGN_3_PRIME	chr6	TogoVar
C2orf92_chr2_97664713_97708066	97675925	TTTGGTAA others(49): Show TTTGGTAAGTAGCCTCCTGCTATGAAGCCTTTAGCCTGTGTTTGAAGAGT TGCATGC	T T	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	NA18966.hp2 NA18966.hp2	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0001 a0011c0007t0001	a0011c0007t0001g0094 a0011c0007t0001g0094	1	310	0.0032	-56	c.232 others(68): Show c.232+1_232+56delGTAAGTAGCCTCCTGCTATGAAGCCTTTAGCCT GTGTTTGAAGAGTTGCATGCTTG		C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
C3orf84_chr3_49172634_49196858	49188964	ATTTTTTT others(1699): Show ATTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTG GAATGCAATGGCGCTATCTGATCTTGGCTCACTGCAACTTCCACCTCCTG GGTTCAAGCCATTCTCCTGCCTTAGCCTCCCGAATAGCTGGGATTAGAGG CATGCGCCACCAAGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTT TCTCCATGTTGGTCAGGCTGGTCTTGAACTACCGACCTCAGGTGATCCTC CCACCTCGGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCGCACC TTGCCTATTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATG TTGGCCAGACTGGTTTCGAGCTCCTGACCTCAAGTGATCCACCTGCCCTG GCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCTCGCCCAGCTGTG ACCCTGATTTATGATACACAGTGCCCCTTCCTTGTCTCCAGGCTTGTAAG TAGTAAAGGGCCTAGGGCCCTGTATCCCTTTCCCATTCTCCAGAAGCCTG CTATAGCCACTCCAGGCTATCTCAGCCATCACTCCTTTCCAGTATTCCCT GGCCAAATGTGTAGGCCAGTAACCAGCTGCCTCCTGTACTACTTCCCTGA CCAGAGGAGGCCTCCTACTAATTTCTAAGGACCTGGACTGTGAAGCTGGC TGTGGAATGGACCATGGGCTTTCTTAGCATTAAGGAATCTGAATGTGAAG GTAGTTGTCAGCAAAACTCAAGGCTTACTTCCTGGGTTCTAGAGGCTCTT TGCCTGTAGCTACCCACCCCGGCTAGGCCCTTACCCTTTGTCCATCTAGA AGGGGCAGTGAGCAATATGGTTCAGTTTGGCACTCACTCTTTTCCACCCT GTCTGTAGGGGAAAGATCTGACATCTCAGAGAAGAAAGGTAAAGCCTGTC CCAGGGATAGGTGTCAGTACAGCCATGGAAGGGCTGGGATGATGCTTTTG GGTTCTGGGAGAGGCAAGAACTGGTCTAGTCACCCCCGCTGCCTTCAGGT CTGCCTTGTACCTGACATCGCTGCAGGAACACTGCTGGAGGCTGGGGCTT GGCTGCAAGGTGGTATTCTCTAGCACTTTCACTCTTGAATTGGCTTCTGT AGTGCCCATAGAAGCCATTGTTGTGCTATAACAAGACAGGAATGAGGATA AAACTCACTCAAATCTCCACCATGGATCCTAGACCTCAGGGCCCCAACTG AGGGTTCCAGGAAAGCCAGACCAGAAGCCCCTCATGGAAGTTCCTGACAG AATAGAAAGAATCTAAGGAGTTAGGACACTCCTGGAGATGGGCCAGTATA GAAGTGTCTTCATCCATCATTGGGACAGTTGACCTCAGCTGTAATGACCC ACCTGGGCTATGCATGTGTAGGGAAGGAGTGCCATTCATTTAGAGCAGAG ATTTGTGGGCAGGGCCACTGATCAGGGGTGTGGTCCTTCCCTAAAGAGCC TGAGAAGAAATCCCCTTTGTTGTTCTCTCCACAATTTTTTTTTTTTTTTT GAGACAGAGTCTTGCTCTTTCACCCAGGCTGGAGTACAGTGGCACAACCT CAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCA GCCTCCCAAGTACCTGAGACTACAGGCGCCCACTATCATGCCAGGCTGAA TTTTTTT	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0127 a0002c0004t0001g0127	1	306	0.0033	-1706	c.28- others(15): Show c.28-532_141+1060del		C3orf84	ENSG00000236980.10	transcript	ENST00000545770.7	protein_coding	2/4						chr3	TogoVar
C4orf47_chr4_185421254_185454826	185432202	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	358	0.0028	0	c.320 others(5): Show c.320+1G>A		C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	3/7						chr4	TogoVar
C4orf47_chr4_185421254_185454826	185440720	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	358	0.0028	0	c.714 others(5): Show c.714+1G>A		C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7						chr4	TogoVar
C4orf50_chr4_5954375_6023431	5973658	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01978.hp1 HG01978.hp1	a0064 a0064	a0064c0068 a0064c0068	a0064c0068t0000 a0064c0068t0000	a0064c0068t0000g0330 a0064c0068t0000g0330	1	346	0.0029	0	c.410 others(6): Show c.4104+1G>A		C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	9/11						chr4	TogoVar
C4orf50_chr4_5954375_6023431	6007995	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0156 a0001c0001t0000g0156	1	346	0.0029	0	c.963 others(5): Show c.963+1G>A		C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11						chr4	TogoVar
C6orf52_chr6_10666422_10699616	10694492	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00544.hp1 HG01243.hp2 HG02055.hp2 others(27): Show HG00544.hp1 HG01243.hp2 HG02055.hp2 HG02155.hp2 HG02451.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG04184.hp2 NA18522.hp1 NA18966.hp2 NA19000.hp2 NA19043.hp1 NA19074.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0004 a0002c0002 a0002c0003 a0003c0004	a0002c0002t0002 a0002c0003t0002 a0002c0003t0004 others(1): Show a0002c0002t0002 a0002c0003t0002 a0002c0003t0004 a0003c0004t0002	a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0003t0002g0017 others(23): Show a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0003t0002g0017 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0004g0009 a0002c0003t0004g0039 a0002c0003t0004g0040 a0003c0004t0002g0018 a0003c0004t0002g0059	30	284	0.1056	0	c.-12 others(5): Show c.-12+2T>C		C6orf52	ENSG00000137434.12	transcript	ENST00000259983.8	protein_coding	1/4						chr6	TogoVar
C8orf89_chr8_73236331_73264530	73256972	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02055.hp2 HG02647.hp2 HG02723.hp2 others(2): Show HG02055.hp2 HG02647.hp2 HG02723.hp2 HG06807.hp2 NA20300.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0001 a0002c0002t0002 a0004c0004t0001	a0002c0002t0002g0125 a0002c0002t0002g0126 a0004c0004t0001g0047 others(1): Show a0002c0002t0002g0125 a0002c0002t0002g0126 a0004c0004t0001g0047 a0004c0004t0001g0128	5	344	0.0145	0	c.281 others(5): Show c.281+1G>T		C8orf89	ENSG00000274443.5	transcript	ENST00000624510.4	protein_coding	2/3						chr8	TogoVar
C9_chr5_39279140_39369495	39308228	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	394	0.0025	0	c.124 others(6): Show c.1240+2T>C		C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	8/10						chr5	TogoVar
C9orf43_chr9_113405747_113434690	113428964	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(19): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00738.hp2 HG01070.hp2 HG01168.hp2 HG01169.hp2 HG01515.hp2 HG01517.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp2 NA18747.hp1 NA18954.hp2 NA19004.hp1 NA19058.hp1 NA19062.hp1 homoSapiens_chm13v2.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0007 a0001c0001 a0012c0007	a0001c0001t0001 a0012c0007t0008 a0001c0001t0001 a0012c0007t0008	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0084 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0084 a0012c0007t0008g0003	22	310	0.0710	0	c.117 others(6): Show c.1171+1G>A		C9orf43	ENSG00000157653.12	transcript	ENST00000374165.6	protein_coding	13/13						chr9	TogoVar
CA6_chr1_8940868_8980092	8951973	CCACGCCC others(5462): Show CCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGCGGTTTTGTCATA CTGGCCAGTCTGGTCTCGAACTCCTTGCCTCAAGTGCTCTGCCCACCTTG GCCTCCCAAAGTGCTAGGATTACAGGCACGAGCCACCAAGGCTGGCCATA ATTCCATTTTTCGATGTAAAGGGTTTTTTTCTGAGATGGAGTCTCACTCT GTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCT GCCTCCTAGGGTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGATGGG ACTACAGGCGCACACCACCACCCCCAGCTAATTTTTGTATTTTTTGTAGA GATGGGGTTTCAGCATGTTGGCCTGGCTGGTCTCGAACTCCTGACCTCAA GTGATCCGCCCACCTTGGCCTCCCAAAGTGTTGAGATTATATGCATAAGC CACCGTGCCCAGCCTGATATAAAGTATTTTGAAAGATTTTTATAATTTAG CTTTTGAAGTTATTTGGCTATTGCCATTGGCTACTTTTCAGCAAGCTCCA AGCACATTCAGGAATTCTACTGAAGGGGGAAAAAAAGCTAATCTACAAAC TTTGAATCTAATGAGATTTTGATGAACACTAAGCTTAACAGTAAAGTTGA CATGACGTATTAAAGATTTGTTAATTTTTGGTTTTGCAAGGTTCTTTTAT TTGAGACGAAGTCGTGCCCTGTAGCCCAGGCTGGAGTGCGGTGGCGCGAT CTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAATCAATTCTCCTGCCT CAGCCTCCTCAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTA ATTTTTGTATTTCTAGTACAGACAGGGTGTCACCATGTTGGCCAGGCTGG TCTCAAACTCCTGACCTCAAGTCATCCGCCCACTTCGGCCTCCCAAAGTG CTGGGATTACAGGCATGAGCCACCATGCCCAGTCAGGTTTTGAAAGGTTT CTAATCACATGTATCGAGCAATCATTTCAGTGTCATGAAAATCCTGTGTT CCACCTGTTCATCTTTCCCTTCCTTCCTAAACCCTGGCAATCACTGATCT TTTTATTTGACCTATAGTTTTTCCTCTTCCAAAATGTCATATGGTTGGAA TCACACAGCATGTAGCCTTTTCACATTGGCTTCTTTCACTTAGCAATATG CATTTAAGTTTCCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTT CAGTGCTGAATATTCTATTGCCTGGATGAACCAGTTTATCCATTCACCTA TCCAAAGACATCCGGGCTGCTTCTCAGTTTTGGCAGTTATGAATAAAGCT GTTATAAAACCCATATGCAGGCCAGGCATGGTGGCTCATGCCTGTAACCC CAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAACCCAGGAATTTG AGACCAGCCTGGGCAATGTAGTGAGACCTACGAAAGTAATAAAAAAATTA GCCTGGCATGGTGGCTCAAACATACAGTCCTGGCTACATAGGAGGTTGAG GTGCGAGGCTCACTTGAGCAGCTTGGGAGGTCAAGGCTGCAGTGAGCTAT GATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTCTCTCA ATCAATCAATCAATCAGTCAATCAATCAATCAATCAATTCCATGTGTAGG TTTGTGTGTTTTCAGTCCATGTGGGTAATTACCAAGAGCTTGCTTGATCG TATAGTAATGTCAGAGGCGTTTGAACCAGAGTGACCCCATCTTGAATAGG GGGTGGGTAAGATAAGGTTGAGACCTACTGGACTGCACTCCCAGGAGGTT AAGGCATTCTCAGTCACAGGATGAGATAGGAGGTTGGCACAAGATACAGG TCATAAAGCTTGCTGATAAAACAGGTTGCAGTAAAGAAGCCTGACAAATC CTACCAAAATCAAGATGGCCACGAGAGTGACCTCCAGTTGTCCTCACTGC TACAGTCCCACTAGTGCTATGACAGTTTACATATGACATGGCAACGTCAG GAAGTTACCCTATGTGGTCTAAAAAGGGGAGGCATGAATAATACACCCCT TGTTTAGCATATAATTAAGACATAACCATAAAAACGGGCAACCAGCTGCC CTTGGGGCTGCTCTGCCTGTGGAGCAGCCATTCTTTATTCCACTACTTCC GTTTTTTTTTTTTTTTGGAGACAGAATCTTGCTCTGAGGCTGGAGTGCAG TGGTGCTACCTTGGCTCCCTGCAACCTCTGCCTCCTGGTTCAAGTGATTC TCGTGCCTCAGCCTCCCAAGTAGCTGGGTTTACAGGCATGCACCACCATG CTCCATTAAGTTTTATAATTTTAGTAAAGACGGGGTTTCGCCATGTCGGC CAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCTTCGGCCTC CCAAAGTGCTGGGATTACAGGTGTGAGGCACTGCGCCTGGCCTATTCCTT TATTTTCTTAATAAACTTGCTTTCACTTTATTCTGTGGACTCACCCCAAA TTCTTTCTTGTGTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGA CCGGTTTTTGGTAACATATAGACCAAGTTGGAAATAATTGACATTGAGAT AGTATTAAGTCTTCCTATCTGTGAACATGGAATATTTCTCCACTTATTTA GTTCTTCCTGATTTATTTCATTAGTTTTGTGATTTTCCTTATATAGATTT TGTCCATATTTTTGGGTTATTTTTGTATTTTTAGTAGAGACGAGGTTTCG CCATGTTGGCTAGGTTGGTCTTGAACCCCTGACCTCAGGTGATCTGCCTG CCTTGGCCTCCTAAATTGCTAGGATTACAGGTGTGAGCTGCCGGGCCTGG CCTCCTCATTTTAAAATTAAATTTAAATTAGATTCAACATTTCAATAAAG AGAAATTCAAATTGAAACACAGGCTGTTGAAACAAAGACAAGTTGCTACA AAATTTCTAAAATGAACTCCCAATTTCTCTGTTTTGGTGCAGACTAGTAA CAGTTGGTGGGCCGGCACTGATCCATTAATATATATTGCCCAGGTGCCGG CACTGATCCATTAATATATATTGCCCAGGTGCCGTGGCTCACCTATAATC CCAGCACTTTGAGAGGCCAAGGCAGGTGGATTGCTTGAGCCCAGGAGTTT CAGACCAGCCTGGGCAACATGGTGAAATTCTGTCTCTACAAATAAACTTA AAAATTAGCTGGACATGGTGGTGTGTGCCTGTAGTCCCTGCTACTTGAGG GGCTGAGGCAGGAGGATTGTTTGAGCCTGGGAGGTCGAGGCTGCAGTGAG CTGAGGTCATGCCACTGCACTCCAGGCTGGGTGACAGAGTAAGACCCTGC CTCAATTAAAATCTTTTTTAAAAAGCACAGTAACAGGCTCAGGGTTGTGG CTCTTTTCCAATTGGGCCTGTGTGGGCCTGTCAGTGTAACCAGAAGTAAC ACATTCCGTCTCCCGGGAGCTGTGTTTTGGGGAAATTGTGAGGACCTCTC TCATTTCTCCTGTGGTGCTTACTGTCCATTTAGGGAGCTCTGCTCGGGTC CTCAGCTCCTCGGCTCCCGTCTGCTTTCAGCATCACTGACCTTGCACGCC TCCTTTTAAGGCCCTTCCACGCCTCCTTTTAAGGCCCTTCCGTCCTTTTC TTGCAAGCATTGATTTTTGAGGCCAGCTACATCTCAAGCTCTAAATACAG AGCATTTGTTCTGCCAAACAGCCGGTGAAAACCTTTCAGGCCGGATTACT GCATTATAGCACATTACGTTATGAATTTAATCATAGCTCCCCGCTCCTTT AGACAATTTGGAAAGAAAGAGGGGGCACGTGACAGGTTTTAAATACCTCA TATTTGCTATCTTTTAAGAAAATGTTCTTGTTTACAGCCACCATTGATGA CTTTAAATAGGAAGATCTTGCCAGGCGCAGTGGCTCGCGCCTATAATCCC AGCACTCTGGGAGGCTGAGGAGGTTGGATCACTTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAA ATTAGCCGGGCATGGTGGCATATGCCTGTAATCCCAGCTACTGGGGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCT AGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTC AAAATAAATAAATAGGAAGATCTTGCTCATGAGACACATGCTGCCTTTCC AACGCCGAAATTATATCCTCATAGATATTTTTCTTAGTCACTTTTCTTAG TAACTGAGCCCGTTTTTTTCTTTTTGTGTAGTTCATTCCAAAAGGCAGAG ATTTCAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAG GCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCGTAACC AATATGGTGAAACACTGTCTCTACTAAAAACACAAAAATTAGCCAGGCAT GGTGGCGGGCACCTGTAGTTCCAGCTACTCGGGAGGCTGAGGTGATAGGA TCCCTTGAAGCCAGGAGTTGGAGGCTGCAGTGAGTTGCTGCAGCAAGTCA TCGTGGTGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGCATGAAAAAA AACAAAGAAAAGAAAACAGTTCTAAGAGGCCCCACTTCCTATTCTTATAC CTTCGGCAAATTCCAAACTTGGCCAGAGATAGAGAGTAGAATTCTAGTTT CCAAGCCCATTGGCCATAATTTTTCAGGACCTTCCCTTTCCCTGGGGCCA GCAAGCTGGACCTGCCACTGTGTGGTCCTGCCTCTGGCCTGTTGGTTCTG GGCGGGAAGGAGCGTGCTGGGGAGAGGCACTTGCCCAGCCTGGTTTACTT AGTGCCTGGCCTCCATCCTGACCTCACCCTGTGCCCTGTGCGCAAACGCC TCTTCTCCTTTGGTGACCCTGCCCATGGCATTCTAAGCCAGTCTATGGTA TTGGCTTGCCCTGGGCTCAGACAGGTGGGAGGTGAGCAGAGAAGCTACCC AGCCTGTAGGCCTGACCCCTCTGTGTTCACCTACTCTGCTCTCAGCCCCA CCTTGTCTCTCCAGTGCAGATCAGCCTGCCCTCCACCATGCGCATGACAG TGGCTGACGGCACTGTATACATAGCCCAGCAGATGCACTTTCACTGGGGA GGTGCGTCCTCGGAGATCAGCGGCTCTGAGCACACCGTGGACGGGATCAG ACATGTGATCGAGGTACCTGAGGACCCCCACTGTGTCCTCTTTCCTTTGA ACCCCATAGTCACTTTTCTTTTTATTTATTTATTTTGAGACAGAGTCTCG CTCTGTTGCCCCGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAC CTCCGCCTTCTGGGTTCAAG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03239.hp1 HG03239.hp1	a0013 a0013	a0013c0033 a0013c0033	a0013c0033t0001 a0013c0033t0001	a0013c0033t0001g0116 a0013c0033t0001g0116	1	452	0.0022	-5469	c.259 others(16): Show c.259+2534_408+159del		CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
CABYR_chr18_24134062_24166600	24155644	TTCTTCTC others(685): Show TTCTTCTCTAAAAATCTTTTTAGATGTTAATTAACCCATCTGGTTGTTGT TTTTCAGTAGAGAAATGGTCAGAAGGAACGACACCACAGAAGAAATTAGA ATGTTTAAAAGAACCAGGAAAAACATCTGTAGAATCTAAAGTACCTACCC AGATGGAAAAATCTACAGACACAGACGAGGACAATGTAACCAGAACAGAA TATAGTGACAAAACCACCCAGTTTCCATCAGTTTATGCTGTGCCAGGCAC TGAGCAAACGGAAGCAGTTGGTGGTCTTTCTTCCAAACCAGCCACCCCTA AGACTACTACCCCACCCTCATCACCACCTCCAACAGCTGTCTCACCAGAG TTTGCCTACGTCCCAGCTGACCCAGCTCAGCTTGCTGCTCAGATGTTAGG TAAAGTTTCATCTATTCATTCTGATCAATCTGATGTGTTAATGGTGGATG TGGCAACCAGTATGCCTGTTGTTATCAAGGAGGTGCCAAGCTCAGAGGCT GCTGAAGATGTCATGGTGGCTGCTCCTCTTGTGTGTTCTGGAAAGGTGCT AGAAGTGCAGGTTGTGAACCAAACATCTGTCCATGTAGATTTGGGTTCTC AACCTAAAGAAAATGAGGCTGAACCATCAACGGCTTCCTCAGTCCCCTTG CAGGATGAACAAGAACCTCCTGCTTATGATCAAGCTCCTGAGG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01934.hp1 HG01934.hp1	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0001 a0007c0030t0001	a0007c0030t0001g0121 a0007c0030t0001g0121	1	408	0.0025	-692	c.200 others(14): Show c.200-54_541+296del		CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
CALHM6_chr6_116456375_116468771	116462456	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp2 HG00323.hp2 HG00733.hp2 others(16): Show HG00280.hp2 HG00323.hp2 HG00733.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02683.hp2 HG04184.hp1 NA18949.hp1 NA18951.hp1 NA18985.hp2 NA18991.hp2 NA19002.hp1 NA19010.hp2 NA19068.hp2 NA19076.hp1 NA19079.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0025 a0003c0003t0001g0028 a0003c0003t0001g0007 a0003c0003t0001g0025 a0003c0003t0001g0028	19	440	0.0432	0	c.525 others(5): Show c.525+2T>G		CALHM6	ENSG00000188820.13	transcript	ENST00000368605.3	protein_coding	2/2						chr6	TogoVar
CAMK2B_chr7_44212154_44330594	44325325	CCGGCCCA others(71): Show CCGGCCCAGCCCGCGCGCGCCGCTGCTCTTACTTGCCAATATCCTCGTAG AGCTGGTACTCGTCGGTGAAGCGGGTGCA	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01074.hp2 HG01074.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0009 a0005c0016t0009	a0005c0016t0009g0006 a0005c0016t0009g0006	1	242	0.0041	-78	c.19_ others(86): Show c.19_65+31delTGCACCCGCTTCACCGACGAGTACCAGCTCTACGAGG ATATTGGCAAGTAAGAGCAGCGGCGCGCGCGGGCTGGGCCG	p.Cys others(3): Show p.Cys7fs	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/24		19/2001	7/666			chr7	TogoVar
CAMK2G_chr10_73807501_73879555	73817022	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	280	0.0036	0	c.153 others(6): Show c.1534+1G>A		CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding	21/22						chr10	TogoVar
CAMTA2_chr17_4962997_4992675	4972767	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18997.hp1 NA18997.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0047 a0008c0013t0003g0047	1	380	0.0026	0	c.250 others(6): Show c.2503+2T>G		CAMTA2	ENSG00000108509.21	transcript	ENST00000348066.8	protein_coding	15/22						chr17	TogoVar
CAPN15_chr16_522712_559636	536144	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00639.hp1 HG01069.hp2 HG01070.hp2 others(43): Show HG00639.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01891.hp2 HG01981.hp2 HG02074.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG06807.hp1 NA18945.hp2 NA18956.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18984.hp2 NA19004.hp1 NA19030.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0009 a0014 a0015 a0020 a0023	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0022 a0001c0046 a0001c0067 a0001c0072 a0002c0037 a0002c0040 a0003c0012 a0003c0059 a0004c0018 a0004c0019 a0004c0025 a0009c0024 a0014c0041 a0015c0036 a0020c0066 a0023c0068	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0019 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0010 a0001c0006t0001 a0001c0006t0003 a0001c0007t0036 a0001c0022t0001 a0001c0046t0037 a0001c0067t0016 a0001c0072t0004 a0002c0037t0001 a0002c0040t0001 a0003c0012t0002 a0003c0059t0002 a0004c0018t0001 a0004c0018t0014 a0004c0019t0003 a0004c0025t0003 a0009c0024t0001 a0009c0024t0002 a0014c0041t0004 a0015c0036t0001 a0020c0066t0001 a0023c0068t0001	a0001c0001t0001g0017 a0001c0001t0001g0350 a0001c0001t0001g0362 others(41): Show a0001c0001t0001g0017 a0001c0001t0001g0350 a0001c0001t0001g0362 a0001c0001t0001g0384 a0001c0001t0001g0394 a0001c0001t0002g0353 a0001c0002t0001g0361 a0001c0002t0003g0357 a0001c0002t0009g0398 a0001c0002t0019g0397 a0001c0003t0001g0352 a0001c0003t0001g0355 a0001c0003t0001g0356 a0001c0004t0001g0393 a0001c0004t0003g0009 a0001c0004t0003g0354 a0001c0004t0003g0377 a0001c0004t0003g0378 a0001c0004t0003g0379 a0001c0004t0003g0380 a0001c0004t0003g0381 a0001c0005t0001g0030 a0001c0005t0010g0304 a0001c0006t0001g0351 a0001c0006t0003g0277 a0001c0007t0036g0358 a0001c0022t0001g0303 a0001c0046t0037g0268 a0001c0067t0016g0279 a0001c0072t0004g0395 a0002c0037t0001g0382 a0002c0040t0001g0360 a0003c0012t0002g0267 a0003c0059t0002g0065 a0004c0018t0001g0274 a0004c0018t0014g0007 a0004c0019t0003g0275 a0004c0025t0003g0278 a0009c0024t0001g0386 a0009c0024t0002g0359 a0014c0041t0004g0385 a0015c0036t0001g0392 a0020c0066t0001g0248 a0023c0068t0001g0364	46	410	0.1122	0	c.-23 others(5): Show c.-23+2T>C		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13						chr16	TogoVar
CAPN9_chr1_230742388_230806989	230791929	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03130.hp2 HG03130.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0162 a0017c0027t0001g0162	1	394	0.0025	0	c.172 others(6): Show c.1722+1G>A		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	15/19						chr1	TogoVar
CARD8_chr19_48203086_48260912	48238382	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0192 a0001c0002t0002g0192	1	362	0.0028	0	c.209 others(5): Show c.209+1G>A		CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	5/13						chr19	TogoVar
CARD9_chr9_136358956_136378669	136365140	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	406	0.0025	0	c.143 others(6): Show c.1434+1G>A		CARD9	ENSG00000187796.16	transcript	ENST00000371732.10	protein_coding	11/12						chr9	TogoVar
CASQ2_chr1_115695021_115773714	115717839	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0321 a0002c0003t0006g0321	1	364	0.0028	0	c.838 others(5): Show c.838+1G>A		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	8/10						chr1	TogoVar

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