Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CRIP2_chr14_105469821_105485162	105477719	G G	GGGGAAGC others(808): Show GGGGAAGCGGGTGTGTGTGGGGGAAGCGGGTGTGTGTGGGGGAAGCGGGT GTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGC GGGTGTGTGTGTGGAAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGA GGAAGCGGGTGTGTGTGGGGAGGCGGGTGTGTGTGGGGGGAAGCGGGTGT GTGGGGGGGAAGCGGGTGTGTGTGTGTTGGGAAGCGGGTGTGTGTGGGGA AGCGGGTGTGTGTGAGGAAGCGGGTGTGTGTTGGGAAGCGGGTGTGTGTG GGGGGAAGCGGGTGTGTGGGGGGGAAGCGGGTGTGTGTGTGTTGGGAAGC GGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGG GGAAGCGGGTGTGTGTGGGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGT GTGTGGGGAAGCGGGTGTGTGTGGGGGGAAGCGGGTGTGTGGGGGGGGAA GCGGGTGTGTGGGGGGAAGCGGGTGTGTGTGGGGGGAAGCGGGTGTGTGG GGGGGGGAAGCGGGTGTGTGTGGGGGGAAGCGGGTGTGTGTGGGGGGGAA GCGGGTGTGTGGGGGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGT GTGGGGAAGCGGGTGTGTGTGGGGGGAAGCGGGTGTGTGTGGGGGGAAGC GGGTGTGTGGGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGGGGGA AGCGGGTGTGTGTGGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGG GGGGAGGCGGGTGTGT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	2	0.5000	815	c.44- others(828): Show c.44-544_44-543insAAGCGGGTGTGTGTGGGGGAAGCGGGTGTGTG TGGGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGCGGGT GTGTGTGGGGAAGCGGGTGTGTGTGTGGAAGCGGGTGTGTGTGTGGGGAA GCGGGTGTGTGTGAGGAAGCGGGTGTGTGTGGGGAGGCGGGTGTGTGTGG GGGGAAGCGGGTGTGTGGGGGGGAAGCGGGTGTGTGTGTGTTGGGAAGCG GGTGTGTGTGGGGAAGCGGGTGTGTGTGAGGAAGCGGGTGTGTGTTGGGA AGCGGGTGTGTGTGGGGGGAAGCGGGTGTGTGGGGGGGAAGCGGGTGTGT GTGTGTTGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGAAGC GGGTGTGTGTGGGGGGAAGCGGGTGTGTGTGGGGGGAAGCGGGTGTGTGT GGGGAAGCGGGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGGGAAGCGGGT GTGTGGGGGGGGAAGCGGGTGTGTGGGGGGAAGCGGGTGTGTGTGGGGGG AAGCGGGTGTGTGGGGGGGGGAAGCGGGTGTGTGTGGGGGGAAGCGGGTG TGTGTGGGGGGGAAGCGGGTGTGTGGGGGGGGAAGCGGGTGTGTGTGGGG AAGCGGGTGTGTGTGTGGGGAAGCGGGTGTGTGTGGGGGGAAGCGGGTGT GTGTGGGGGGAAGCGGGTGTGTGGGGGGAAGCGGGTGTGTGTGGGGAAGC GGGTGTGTGGGGGAAGCGGGTGTGTGTGGGGGAAGCGGGTGTGTGTGGGG AAGCGGGTGTGTGGGGGGAGGCGGGTGTGTGGG	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
CYSLTR1_chrX_78266468_78332611	78269606	A A	AATACAGA others(808): Show AATACAGAACATATATTATATATAATATATATAAATACAGAATATATATT ATATATAATATATAAATATAGAATATATATTATATATAAATATAGAATAT ATATTATATATAATATTAAATATAGAATATATATTATATATTATATATAA ATATAGAATATATATTATATTATATATAAATATAGAATATATATTATATA TGATATATATAAATATAGAATATATATTATATATTATATATAATATAGAA TATAGAATATATATTATATATTATATATAATATAGAATATAGAATATATA TTATATATAATATAGAATATAGAATATATATTATATATAATATAGAATAT AGAATATATATTATGTATATATAATATAGAATGTATATTCTATATTATAT ATAATATAGAATATATAATATATTTATATATAATATAGAATATATTCTAT ATAATATAGAATATATAACATATTATATATAAATATAATATATATTCTAT ATTTAATAGAATATATAATATACATTCTATATTTATCTAGAATATATAAT ATATTCTATATAAATATGGAATATATATTATATATTCTATATTTATATAG AATATATAATATATTCTATATAATATATATTCTATATATATATAGAATAT ATTCTATATATATATAGAATATATATTATATATATAGAAAATATATTATA TATTCTATATTTATATATAATATATATATTATATTCTATATTTATATAGA ATATAAATATATAATATATAATATTTGTATATGTACTATATATTATATAA TATATATAATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	57	0.0175	815	c.31 others(826): Show c.3126_*3127insATATGTATTATATATATTATATAATATATAGTAC ATATACAAATATTATATATTATATATTTATATTCTATATAAATATAGAAT ATAATATATATATTATATATAAATATAGAATATATAATATATTTTCTATA TATATAATATATATTCTATATATATATAGAATATATTCTATATATATATA GAATATATATTATATAGAATATATTATATATTCTATATAAATATAGAATA TATAATATATATTCCATATTTATATAGAATATATTATATATTCTAGATAA ATATAGAATGTATATTATATATTCTATTAAATATAGAATATATATTATAT TTATATATAATATGTTATATATTCTATATTATATAGAATATATTCTATAT TATATATAAATATATTATATATTCTATATTATATATAATATAGAATATAC ATTCTATATTATATATACATAATATATATTCTATATTCTATATTATATAT AATATATATTCTATATTCTATATTATATATAATATATATTCTATATTCTA TATTATATATAATATATAATATATATTCTATATTCTATATTATATATAAT ATATAATATATATTCTATATTTATATATATCATATATAATATATATTCTA TATTTATATATAATATAATATATATTCTATATTTATATATAATATATAAT ATATATTCTATATTTAATATTATATATAATATATATTCTATATTTATATA TAATATATATTCTATATTTATATATTATATATAATATATATTCTGTATTT ATATATATTATATATAATATATGTTCTGTAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		1861		chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(808): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGG GGAGGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGGAGGGGGAGGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAAGG GGAAGGGGAAGGGGAAGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAA GGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGG AAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0146 a0001c0001t0006g0146	1	97	0.0103	815	c.923 others(834): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCC TCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCC CCTCCCCTTCCCCTTCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTC CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCT CCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
FLT4_chr5_180596506_180654600	180635641	A A	ATGGGTGG others(808): Show ATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGATGGAAGTATGGGT GGATGGGTGGGTGGACGGATGGATGGATGGAAGTATGGGTGGATGGGTGG GTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGAC GGATGGATGGATGAAGTATGGGTGGATGGGTGGGTGGGTGGATGCATGGA TGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATG GATGGATGGAAGTATGGGTGGATGGGTGGGTGGACGGATGGATGGATGGA AGTATGGGTGGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTATG GGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGCATGGAAGTA TGGGTGGATGGGTGGGTGAGTGGGTGGATGGAAGTATGGGTGGATGGGTG GGTGGATGGGTGGATGGATGCATGTATGGAAGTATGGATGGATGAGTGGA TGGGTGGGTGGGTGGATGCATAGATGGATGGAAGTATGGGTGGATGGGTG GGTGGGTGGGTGGATGGATGCATGGATGGAAGTAAGGGTGGATGGGTGGA TGGGTGGGTGAGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATG GGTGGGTGGGTGGGTGGATGGATGCATGGATGGAAGTAAGGGTGGATGGG TGGATGGGTGGGTGAGTGGGTGGATGCATGGATGGATGGAAGTATGGGTG GATGGGTGGATGGGTGGGTGGGTAGGTGGATGGATGCATGGATTGAAGTA TGGGTGGATGGGTGGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0227 a0002c0029t0001g0227	1	255	0.0039	815	c.59- others(830): Show c.59-3864_59-3863insCCCACCCATCCACCCATACTTCAATCCATG CATCCATCCACCTACCCACCCACCCATCCACCCATCCACCCATACTTCCA TCCATCCATGCATCCACCCACTCACCCACCCATCCACCCATCCACCCTTA CTTCCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCATACT TCCATCCATCCATGCATCCACCCACTCACCCACCCATCCACCCATCCACC CTTACTTCCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCA TACTTCCATCCATCTATGCATCCACCCACCCACCCATCCACTCATCCATC CATACTTCCATACATGCATCCATCCACCCATCCACCCACCCATCCACCCA TACTTCCATCCACCCACTCACCCACCCATCCACCCATACTTCCATGCATC CATGCATCCATCCACCCACCCACCCACCCATCCACCCATACTTCCATCCA TCCATGCATCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATC CGTCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCATCCA CCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCACC CACCCACCCATCCACCCATACTTCATCCATCCATCCGTCCACCCACCCAT CCACCCATACTTCCATCCATCCATGCATCCACCCACCCACCCATCCACCC ATACTTCCATCCATCCATCCGTCCACCCACCCATCCACCCATACTTCCAT CCATCCATGCATCCATCCACCCACCCACCCACCCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(808): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCACCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCGCCCG GGAGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0008 a0008	a0008c0046 a0008c0046	a0008c0046t0004 a0008c0046t0004	a0008c0046t0004g0258 a0008c0046t0004g0258	1	205	0.0049	815	c.369 others(832): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG CCGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGA CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(808): Show TAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0112 a0002c0003t0001g0112	1	233	0.0043	815	c.127 others(834): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
JTB_chr1_153969269_153982674	153970912	T T	TTTTGTAT others(808): Show TTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTC TTGAACTCCTGACCTTGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGTGCCCGGCCCAACATGAACAATTTTAAAA GCAGGGAAGGACAAGGGAGAAAGAACCCTTGGGGGTAAGGTAGCAAAAAC TCAGTTAAGGTGGGGTGAGGGAATCTGGGGACAGGGCTCAGGAGAAAGCC CAGACTTTGCATGCATTGTATTCTTAGCCAGAGCCATTATCTCAGCCTTG GGTCAGGACACAGAAATGGGACAGGCCACCTGGGAATCCCAACTGGTTAT AGGTACAGGAAGAAAGAAAAGCAATAGCAGCAATGTTTCCACTGGAACAG TTGCCCAGGAGGCACCCACTGGCTAGTGCTACAGTGTAGCAGAGGTATCA CATTAGATGCCTTCTCAAGGCCGTCTGGGCAGCGTCCAAGGCTGGGTAAA GAGGGGGCTATGCTCAGATCACTGTTCCTCCCTTTCCTCTGAAAATTACT CCTTGTACCCAAAAGGCAGGGACCAGGTCCTAGCCTCTCTTCAAATCTGC AGTTGAAGCTGGGACCAGAAGCCAAGCTAAGCATCTTAGAATCTTTTTTT TTTTTTTTTTTTTTTTTTTAGACAGAGTCTCGCTCTGTCACCAGACTGGA GTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTTCCAGGTTCAA GCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGACAACAAGTGTGCGC CTCCAAGCCTGGCTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	384	0.0026	815	c.37 others(826): Show c.3766_*3767insTTAGCCAGGCTTGGAGGCGCACACTTGTTGTCCC AGCTACTCAGGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGAAGGCAGA GGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGTCTGGTGACAGAG CGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAAAAAAAAGATTCTAAGAT GCTTAGCTTGGCTTCTGGTCCCAGCTTCAACTGCAGATTTGAAGAGAGGC TAGGACCTGGTCCCTGCCTTTTGGGTACAAGGAGTAATTTTCAGAGGAAA GGGAGGAACAGTGATCTGAGCATAGCCCCCTCTTTACCCAGCCTTGGACG CTGCCCAGACGGCCTTGAGAAGGCATCTAATGTGATACCTCTGCTACACT GTAGCACTAGCCAGTGGGTGCCTCCTGGGCAACTGTTCCAGTGGAAACAT TGCTGCTATTGCTTTTCTTTCTTCCTGTACCTATAACCAGTTGGGATTCC CAGGTGGCCTGTCCCATTTCTGTGTCCTGACCCAAGGCTGAGATAATGGC TCTGGCTAAGAATACAATGCATGCAAAGTCTGGGCTTTCTCCTGAGCCCT GTCCCCAGATTCCCTCACCCCACCTTAACTGAGTTTTTGCTACCTTACCC CCAAGGGTTCTTTCTCCCTTGTCCTTCCCTGCTTTTAAAATTGTTCATGT TGGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCA GAGGCAGGCGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAT GGTGAAACCCCATCTCTACTAAAAATACAAA	JTB	ENSG00000143543.15	transcript	ENST00000271843.9	protein_coding		3356		chr1	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(808): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCG CCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCC GCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCA GCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	5	0.2000	815	c.-41 others(830): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCA CAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCC CCCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACC TCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCAAAGCCACC TCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCC GCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGC AGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(808): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCAT CACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCATCA CCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCA CCATCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	327	0.0031	815	c.391 others(830): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCATCAC CACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCATCACCATCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCATCACCATCACCAC CACCACCATCACCACCATCACCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCTP2_chr15_94226561_94488952	94348437	C C	CCCCCTCT others(808): Show CCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCTCCA TCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTCCCA CTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCGTCCCCT CTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCCTTC CCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCTC CCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCTCCTC CTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCC TCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCC CTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCC TCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTCCAT CCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCCAT CCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTTCCCTC TCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTC TCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCCTCCTCC TCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCTCCCTCTCCCTCC CCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCCTCTC CCCCCTCCCCCTCTCT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0213 a0002c0003t0007g0213	1	274	0.0036	815	c.100 others(834): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCC CCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACT TTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCC CCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCAT CCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCC CCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCT CCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCAT CCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCA TTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTC TTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCC CTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCC CCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTC CCTCTCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCC CTCCCCCTCCCCCTCTCCCCCCTCCCCCTCTCTCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(808): Show GCCCTCCCCTCCCCTCACCCGGTCCGCCCTCCCCTTCCCCTCCCGCTCCC CGCTTCCACCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCTCC TCCTCCCTCCCCCCTCCTCCTCCCTCCCACCCCTCCCCTCCCCCTTCCCC TCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCC TCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCCTTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCCC CTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCTCCCTCCCCAT TCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTC TTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTT CCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCTCCCTTCCCCT CCCTCCCCCCCTCCTCCCCCTCCCCTTCCCCTCCGCTTGCCCCTTCCCTC CCCTCTCCTCTCCCCTCCCCACCCCTCCCCTCTTCCCTCCCCACCTCCCC CTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCCTCTCCCCTCCCCCT CCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0223 a0001c0011t0002g0223	1	8	0.1250	815	c.115 others(832): Show c.1157+153_1157+154insACCCGGTCCGCCCTCCCCTTCCCCTCCC GCTCCCCGCTTCCACCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCC TCCTCCTCCTCCCTCCCCCCTCCTCCTCCCTCCCACCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCT TCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCTTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCC CTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCCTTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCC CTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCC CTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCTCCCT CCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCT CCCCTCTTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCC TCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCTCCCT TCCCCTCCCTCCCCCCCTCCTCCCCCTCCCCTTCCCCTCCGCTTGCCCCT TCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTCTTCCCTCCCCAC CTCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCCTCTCCCCT CCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(808): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGGAAAGGGGGTGGGGGGGAAGGGGGGAAGGG GAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGA GGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGGGGAGGGGGA GGGGGGAGGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGGGAG GGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGA AGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGGAGGGAGGGGGAGGG AAGGGAGGGAGGGGAGGGGGAGGGAGGGGGAGGGGAGTGGAGGGGGAGGG GGAGGGAGGAGGGATGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGG AGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAG GGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGGAGGGAGGGGA GGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	8	0.1250	815	c.250 others(830): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CCTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTC CCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCC CTCCCCCTCCCCCTCCACTCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCT CCCCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCCCTCC CCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTT TCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCC ACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTCCCCTTCCCCCCTTC CCCCCCACCCCCTTTCCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCT TCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTG CCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTT CCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(808): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGG GGGAGGGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGG GAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAG GAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGG GGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGG GGAGGGGAGGAGGGGGAGGGGAGGGGGAGAGGGGAGGGGAGGGGGGAGGG GAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAG GGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAG GGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGG AGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGG AAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAG GGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGG AGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0174 a0001c0004t0001g0174	1	4	0.2500	815	c.279 others(830): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCC CCTCCTCCCTCCCCTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCTCTCCCCCTCCCCTTCCCCTCCCCCTT CCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCC CCTCCCCTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCT TCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
PCBP3_chr21_45638725_45947450	45910135	A A	ACCCACTG others(808): Show ACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACC CCCCCCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGAT ACGGACCCCCCCAACCCACTTCCCAGGTACGGACCCCCCCACACACACTT CCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCC ACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACC CCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATA TGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCA CTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCC CACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACC CGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATAT GGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCC CAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACC TGCTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCC CCCACCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGAC CCCCCCCCACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCCAGAT ACGGACCCCCCGCCAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0087 a0001c0004t0002g0087	1	8	0.1250	815	c.471 others(830): Show c.471+651_471+652insCACTGCCCAGATACGGACCCCCCCCACCCA CTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACAGACCCGGC CCACCCACTGCCCAGATACGGACCCCCCCAACCCACTTCCCAGGTACGGA CCCCCCCACACACACTTCCCAGATACGGACCCCCCCCCACCCACTGCCCA GATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCA CTGCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCC CACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACC CCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCC CAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCA CTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCC ACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACC CCCCCACACACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGA TACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACTG CCCAGATATGGACCCCCCCCACCACTGCCCAGATATGGACCCCCCCCACC ACTGCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATATGGACCTGG CCACCCACTGCCCAGATACGGACCCCCCGCCACCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(808): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	218	0.0046	815	c.129 others(832): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(808): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCTGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCTGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0011 a0005c0013t0011	a0005c0013t0011g0236 a0005c0013t0011g0236	1	218	0.0046	815	c.129 others(832): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCAGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(808): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGC CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	29	0.0345	815	c.537 others(832): Show c.537+2599_537+2600insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTTGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(808): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGCGGGGTGTGGG GATGCACTGAGTCGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGG GGGGAGGGCGGGGTGTGGGGATGCACTGAGTCGGGGGGAGGGCGGGGCGT GGGGATGCACTGAGTCTGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGT GTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGA GTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGCGGG GTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGCGTGGGGATGCACTG AGTCGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCG GGGTGTGGGGATGCACTGAGTCTGGGGAGGGCGGGGTGTGGGGATGCACT GAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGTGGGGGG GGGTGTGGGGATGCACTGAGTCTGGGAGGAGGGCGGGGTGTGGGGATGCA CTGAGTCTGGGGGAGGGTGGGGCGTGGGGATGCACTGAGTCTGGGGGAGG GGGGGGCGTGGGGATGCACTGAGTCGGGGGGAGGGGGGTGTGGGGATGCA CTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAG GGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGA TGCACTGAGTCTGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0030 a0030	a0030c0132 a0030c0132	a0030c0132t0001 a0030c0132t0001	a0030c0132t0001g0160 a0030c0132t0001g0160	1	34	0.0294	815	c.299 others(830): Show c.2992-13_2992-12insCCCCAGACTCAGTGCATCCCCACACCCCGC CCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCA GTGCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCTCCCCCCGACTCAGTGCATCCCCACGCCCCCCCCTCCCCCAGACTC AGTGCATCCCCACGCCCCACCCTCCCCCAGACTCAGTGCATCCCCACACC CCGCCCTCCTCCCAGACTCAGTGCATCCCCACACCCCCCCCCACCCAGAC TCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACA CCCCGCCCTCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCGCCCTCCCCCCGACTCAGTGCATCCCCAC GCCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCAG ACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCA CACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCC CCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATC CCCACACCCCGCCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCC CCCCGACTCAGTGCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCA TCCCCACACCCCGCCCTCCCCCCGACTCAGTGCATCCCCACACCCCGCCC TCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTATATTA others(808): Show TTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATATTATGGATAATATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATATTATATTATGGATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAGTATATTATGGATAATATAATATATTATGGATAATAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATAATATATTATATAATATATTATATTATG GATAATATAATATATTATATAATATATTATATTATGGATAATATAATATA TTATATAATATATTATATTATGGATAATATAATATATTATATAATATATT ATATTATGGATAATATAATATATTATATAATATATTATATTATGGATAAT ATAATATATTATATAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	119	0.0084	815	c.389 others(836): Show c.389-154406_389-154405insGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATATTATATTATGGATAATATATTATATTATG GATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATAGTATATTATGGATAATATAATATATTAT GGATAATATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATAATATAT TATATTATGGATAATATAATATATTATATAATATATTATATTATGGATAA TATAATATATTATATAATATATTATATTATGGATAATATAATATATTATA TAATATATTATATTATGGATAATATAATATATTATATAATATATTATATT ATGGATAATATAATATATTATATAATATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	315058	A A	ACTGTAGT others(808): Show ACTGTAGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCCCTGTGACTCC ACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCACTGACCTGTAGTC CCTGTGCCCCACCTCCATTGACCTGCAGTCTCTGTACTCCACGTCCATTG ACCTGTAGTCCCTGTGACTTCACCTCCATTGACCTGTAGTCCCTGTGCTC CACCTCCATTGACCTGTAGTCTCTGTGACCCCACCTCCATTGGCCTGTAG TCCCTGTACTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCAT TGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCTCTGTGCT CCACCTCCATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGTAG TCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGACTCCACCTCCA TTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGC TCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACCTCCATTGACCTGT AGTCCCTGTACTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCC ATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCTCTGTG CTCCACCTCCATTGACCAGTAGTCCCTGTGCCCCACCTCCATTGACCTGT AGTCTCTGTGCTCCACCTCCATTGACCAGTAGTCCCTGTGCCCCACCTCC ATTGACCTGTAGTCTCTGTGCTCCACCTCCACTGAACTGTAGTCCCTGTG CTCCACCTCCACTGAC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0006 a0001c0001t0012g0006	1	104	0.0096	815	c.351 others(832): Show c.351+4361_351+4362insGTCAGTGGAGGTGGAGCACAGGGACTAC AGTTCAGTGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCA CAGGGACTACTGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGG AGGTGGGGCACAGGGACTACTGGTCAATGGAGGTGGAGCACAGAGACTAC AGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAATGGAGGTGGAGCA CAGAGACTACAGGTCAATGGACGTGGAGTACAGGGACTACAGGTCAATGG AGGTGGGGTCACAGAGACTACAGGTCAATGGAGGTGGAGCACAGAGACTA CAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGAGT CACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAAT GGACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGACT ACAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAATGGAGGTGGAG CACAGAGACTACAGGTCAATGGACGTGGAGTACAGGGACTACAGGCCAAT GGAGGTGGGGTCACAGAGACTACAGGTCAATGGAGGTGGAGCACAGGGAC TACAGGTCAATGGAGGTGAAGTCACAGGGACTACAGGTCAATGGACGTGG AGTACAGAGACTGCAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCA GTGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGAGTCACAGGG ACTACAGGTCAATGGAGGTGGGGCACAGGGACTACAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(808): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGCACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATATATGTATATATTATATATACATATATATGTATATATA CATATATACATGTATATATTATATATACATATATATGTATATATACATAT ATACATGTATATATTATACATGTATATATGTATATATACATATATACATG TATATATTATACATGTATATATGTATATATACATATATACATGTATATAT TATACATGTATATATTAATATATAATATATAGTATATATATACATGTATA TATTATATATAAAGTATATATTATATATACGTGTATACAATATATATACG TGTATATATATTATATACACGTATATATAATATATTGTATACAGGTATAT ATACATGTATATAATATATATGTATATATAATATATTGTATACATGTATA TATATACATGATATATACACATATATATCGTGTATATATACACATATATG TATATATATACATGATATATACACATATATGTATATATATACATGATATA TACATACATATATATCATGTGTATATATATACATAATATACACGTATATA TACATACATATATACATGTATATATACACATATATACATACATATATATA CATGTATATATACACACATATATATGTGTATGTATATGTGTGTGTGTGTG TGTGTGTGTGTATATATATATATATATATATATATAATTTTACAACTAAC ATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	121	0.0083	815	c.59- others(832): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATACACACACACACACACACACACA CATATACATACACATATATATGTGTGTATATATACATGTATATATATGTA TGTATATATGTGTATATATACATGTATATATGTATGTATATATACGTGTA TATTATGTATATATATACACATGATATATATGTATGTATATATCATGTAT ATATATACATATATGTGTATATATCATGTATATATATACATATATGTGTA TATATACACGATATATATGTGTATATATCATGTATATATATACATGTATA CAATATATTATATATACATATATATTATATACATGTATATATACCTGTAT ACAATATATTATATATACGTGTATATAATATATATACACGTATATATATT GTATACACGTATATATAATATATACTTTATATATAATATATACATGTATA TATATACTATATATTATATATTAATATATACATGTATAATATATACATGT ATATATGTATATATACATATATACATGTATAATATATACATGTATATATG TATATATACATATATACATGTATAATATATACATGTATATATGTATATAT ACATATATATGTATATATAATATATACATGTATATATGTATATATACATA TATATGTATATATAATATATACATATATGTATATATTATATATACATATA TATGTATATATAATATATACATATATGTGCATATAATATACATGTCTATA TGTATATATATTATACATACATGTCTATATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(808): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAG CCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGG GGGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	207	0.0048	815	c.284 others(834): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(808): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAG CCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGG GGGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	207	0.0048	815	c.284 others(834): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(808): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAG CCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGG GGGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	207	0.0048	815	c.284 others(834): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SPATC1L_chr21_46156160_46189459	46184511	C C	CCAACCCA others(808): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG CACCCACCACCACCAACCCAGTGGGGCCGGCCACACCTCCAGCCCTGTGA CGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTG TGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCA GCCCTGTGACGGGCACTCAGGACCACCAACAACCCCAGTGGGCCGGCCAC ACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCC GGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGG GCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAG TGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAACC CAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCA ACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACTCA GGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG TACTCAGGACCACCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0069 a0013c0015t0001g0069	1	92	0.0109	815	c.-11 others(826): Show c.-1115_-1114insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGG TGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGG TTGTTGGTGGTCCTGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCC ACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGC CGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGT GGCCGGCCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		53		chr21	TogoVar
SUFU_chr10_102498972_102638535	102637392	T T	TTATATAT others(808): Show TTATATATTATATAACTATATATTATATATAATATATTATATATTATATA ACTATATATTATATATAATATATTATATATTATATAACTATATATTATAT ATAATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATTATATATTATATAACTATATATTAT ATATAATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	255	0.0039	815	c.72 others(826): Show c.7237_*7238insTATATATTATATAACTATATATTATATATAATAT ATTATATATTATATAACTATATATTATATATAATATATTATATATTATAT AACTATATATTATATATAATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATTATATATTAT ATAACTATATATTATATATAATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3858		chr10	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(808): Show ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACACACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCACACACCCCACACACCACACACACAC CACACACACATCACATACCACACACAAACCACACACCCTACACGCACCAC ACACCCCACACACACCACACACCCGACACGCCACACACACACCACACACC CCACGCACACATCACATACCACACACAAACCACACACCCTACACACCCCA CACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	35	0.0286	815	c.35 others(834): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCCCACACACCCC ACACACCCCACACACACCACACACCCCACACACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCCACACACCCCACACAC CACACACACACCACACACACATCACATACCACACACAAACCACACACCCT ACACGCACCACACACCCCACACACACCACACACCCGACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(808): Show ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACACACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCACACACACACCACACACCCCACACACACATCACA TACCACACACCCCACACACCCCACACACCACACACACACCACACACCCCA CACACACATCACATACCACACACAAACCACACACCCTACACGCACCACAC ACCCCACACACACCACACACCCGACACACGCCACACACACACCACACACC CCACGCACACATCACATACCACACACAAACCACACACCCTACACACCCCA CACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01981.hp2 HG02040.hp2 others(6): Show HG01346.hp1 HG01981.hp2 HG02040.hp2 HG02071.hp1 HG03688.hp2 HG03834.hp2 HG04228.hp1 NA18939.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0136 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0002g0033 a0001c0001t0002g0271 a0001c0001t0002g0286 a0001c0001t0002g0290	9	43	0.2093	815	c.35 others(834): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCCCACACACCCC ACACACCCCACACACACCACACACCCCACACACACACCACACACCCCACA CACACATCACATACCACACACCCCACACACCCCACACACCACACACACAC CACACACCCCACACACACATCACATACCACACACAAACCACACACCCTAC ACGCACCACACACCCCACACACACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(808): Show TATAATAATATAATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATGATCATATATAATAATATAATATATATTATTATAT ATGATCATATATAATAATATATATATATTATTATATATGATCATATATAA TAATATATATATATTATTATATATGATCATATATAATAATATAATATATA TTATTATATATGATCATATATAATAATATAATATATATTATTATATATAA TCATATATAATAATATAATATATATTATTATATATGATCATATATAATAA TATAATATATATTATTATATATGATCATATATAATAATATAATATATATT ATTATATATAATCATATATAATAATATAATATATGATTATATATAATCAT ATATAATCATATATTATATATTATTATATATAATCATATATAATAATATA ATATATATTATTATATATAATCATATATAATAATATATTATATATGATTA TATATGATCATATATAATCATATATTATATATTATTATATATGATCATAT ATAATAATATAATATATATTATTATATATGATCATATATAATAATATAAT ATATATTATTATATATGATCATATATAATAATATAATATATATTATTATA TATGATCATATATAATAATATAATATATATTATTATATATGATCATATAT AATAATATAATATATATTATTATATATGATTATATATAATATAATATATA TTATTATATATGATTATATATAATAATATAATATATATTATTATATATTA TTATATATTATTATAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0142 a0003c0004t0004g0142	1	99	0.0101	815	c.392 others(832): Show c.392+6154_392+6155insTTATAATAATATATAATAATATATAATA ATATATATTATATTATTATATATAATCATATATAATAATATATATTATAT TATATATAATCATATATAATAATATATATTATATTATTATATATGATCAT ATATAATAATATATATTATATTATTATATATGATCATATATAATAATATA TATTATATTATTATATATGATCATATATAATAATATATATTATATTATTA TATATGATCATATATAATAATATATATTATATTATTATATATGATCATAT ATAATAATATATAATATATGATTATATATGATCATATATAATCATATATA ATATATTATTATATATGATTATATATAATAATATATATTATATTATTATA TATGATTATATATAATAATATATAATATATGATTATATATGATTATATAT AATCATATATTATATTATTATATATGATTATATATAATAATATATATTAT ATTATTATATATGATCATATATAATAATATATATTATATTATTATATATG ATCATATATAATAATATATATTATATTATTATATATGATTATATATAATA ATATATATTATATTATTATATATGATCATATATAATAATATATATTATAT TATTATATATGATCATATATAATAATATATATATATTATTATATATGATC ATATATAATAATATATATATATTATTATATATGATCATATATAATAATAT ATATTATATTATTATATATGATCATATATAATAATATATATTATATTATT ATATATAATAATATATAATAATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
U2AF2_chr19_55650035_55679716	55670449	C C	CCCGTGCA others(808): Show CCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCG GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC GTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTG TCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCGTGCACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp2 HG02976.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0200 a0001c0001t0001g0202	2	150	0.0133	815	c.129 others(832): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCC TGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC	U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
VCX_chrX_7838171_7849143	7844254	A A	AGGGAGGA others(808): Show AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGAGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGAGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGGAGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGG AGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	257	0.0039	815	c.23 others(824): Show c.238_*239insGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGGAGGAGGAAGCGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAGGAAGCGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGAGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGAGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		112		chrX	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(809): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGG GCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGT GGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAG GGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTG GTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCT AGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCC TGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGC CTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTG CCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAG GCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATC TGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGG AGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAA TCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCG GGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCG AATCTGCCTGGTGGGGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	195	0.0051	816	c.441 others(833): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCT GCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGT CTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGG GAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGA ATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC GGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGG GCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGG CCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTC GGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGG GGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGG TGGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTA GGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCT GGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415614	C C	CGGGAGGC others(809): Show CGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGC CGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGG GGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGG GCCGAATCTGCCTGGTGGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGT CGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAG GGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTG GTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCT AGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAGTCTCCC TGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGC CTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAGTCTC CCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAG GCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATC TGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGG AGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAA TCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTG GGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCG AATCTCCCTGGTCTGCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	130	0.0077	816	c.441 others(833): Show c.441+2199_441+2200insGTCTGCCTGGTCGGGCGGGAGGCCTAGG GGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGG TGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTA GGGGCCGAATCTGCCTGGTGGGGTGGGAGGCCTAGGGGCCGAATCTGCCT GGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCC TAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAGTCT CCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGA GGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAGT CTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGG GAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGA ATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGC GGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCC GAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGG GTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGG CCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415614	C C	CGGGAGGC others(809): Show CGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGC CGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGG GCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGT CGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTG GTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCT AGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCC TGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGC CTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTG CCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAG GCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATC TGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGG AGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAA TCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCG GGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCG AATCTCCCTGGTCTGCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0035 a0007c0007t0035	a0007c0007t0035g0228 a0007c0007t0035g0228	1	130	0.0077	816	c.441 others(833): Show c.441+2199_441+2200insGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGG TCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTA GGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCC TAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGA GGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGT CTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGG GAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGA ATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCT GGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCC GAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGG GCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGG CCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(809): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CTACCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCA CCATCTTCATCACCATCCTCACCATCATCCTCAACACAACCATCATCACT ACCATCATCCTCACTACCACCACCACTGTCACCATCAACCACCATCACCA TCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACTACC ACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACCATT ACCACAATCCTCACCACTACCACCATCACCACCTTCATCACCATCTTCAT CACCACCATAATCATCTTTCTCACTACCACCGTCATCACCATCACCATCA CCACCATCATTCTCACTACCACCATCACCATCAAGTCATCACCACCATCA TCATCCTCATTGTCACCATTACCACAATCCTCACCACTACCTCCATCACC ACCTTCATCACCATCTTCATCACCACCATAATCATTTCTCACTACCACCG TCATCACCATCACCATCACCACCATCATTCTCACTACCACCATCACCATC ATAATCATCACTATCACCATCACAACCATTATCCTCACCACCACCATCAT TCTCACTACCATCACCACCACCATCACCACCATCATTCTACCACCGTCAT CACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0268 a0001c0001t0001g0269	2	163	0.0123	816	c.135 others(833): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGAGG TAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGGTG ATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGGTGATG GTGATGACGGTGGTAGTGAGAAAGATGATTATGGTGGTGATGAAGATGGT GATGAAGGTGGTGATGGTGGTAGTGGTGAGGATTGTGGTAATGGTGACAA TGAGGATGATGATGGTGGTGATGACTTGATGGTGATGGTGGTAGTGAGAA TGATGGTGGTGATGATGTTGGTGATTGTGATTATGGTGATGGTGATGGTG GTTGATGGTGACAGTGGTGGTGGTAGTGAGGATGATGGTAGTGATGATGG TTGTGTTGAGGATGATGGTGAGGATGGTGATGAAGATGGTGATGATGTGG TCATGATGGTGGTGAGGATGAAGATGGTGGTGGTGGTAGTGGTGAGGATT GTGATGGTGAGTGAGATAATGGTGGTGGTAGGGAGGATGATGGTTGTGGT GGTGATGGTGAGGGTGATGGTAGTGATGATGGTTGTGATGCTGATGAGGA TGATGATGGTGAAGATGTGGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(809): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGT GGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGAC CCCTCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	2	0.5000	816	c.-14 others(831): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACC TCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGG CCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP10A_chr15_25673712_25868327	25758781	A A	ACTCATTC others(809): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	236	0.0042	816	c.654 others(835): Show c.654+22237_654+22238insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGC AGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGA GCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAG GGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79146340	G G	GAGTGACT others(809): Show GAGTGACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGA GTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCCGGCGGTGTGGAGAGT GACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGGAGAGTGA CTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCACAGTGACT GAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGA AGGTGCAGGCTGCATGTCGGGGGAGCTGACGGTGTGCAGAGTGACTGAAG GTGCAGGCTGCATGTCGGGGAAGCTGGCGGTGTGGAGAGTGACTGAAGGT GCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGC AGGCTGCATGTCGGGGGAGCTGGCGGTGTGGAGAGTGACTGAAGGTGCAG GCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAAGC TGCATGTCGGGGGAGCTGCCGGTGTGGAGAGTGACTGAAGGTGCAAGCTG CATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCA TGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATG TCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTC GGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTCGG GGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTCGGGG GAGCTGGCGGTGTGCAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02897.hp2 HG01243.hp2 HG02897.hp2	a0002 a0002	a0002c0005 a0002c0032 a0002c0005 a0002c0032	a0002c0005t0001 a0002c0032t0005 a0002c0005t0001 a0002c0032t0005	a0002c0005t0001g0183 a0002c0032t0005g0189 a0002c0005t0001g0183 a0002c0032t0005g0189	2	292	0.0068	816	c.726 others(833): Show c.726+2495_726+2496insGGGCTGCATGTCGGGGGAGCTGGCGGTG TGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCCGGCGGTGTG GAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGGA GAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCACA GTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGT GACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGACGGTGTGCAGAGTGA CTGAAGGTGCAGGCTGCATGTCGGGGAAGCTGGCGGTGTGGAGAGTGACT GAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGA AGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGGAGAGTGACTGAAG GTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGT GCAAGCTGCATGTCGGGGGAGCTGCCGGTGTGGAGAGTGACTGAAGGTGC AAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGG GCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGC TGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTG CATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCA TGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATG TCGGGGGAGCTGGCGGTGTGCACAGTGACTGAAGGTGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79146424	T T	TGGCGGTG others(809): Show TGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTG GCGGTGTGCACAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGC GGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGACGG TGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGAAGCTGGCGGTG TGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTG CAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGGA GAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGA GTGACTGAAGGTGCAAGCTGCATGTCAGGGGAGCTGCCGGTGTGGAGAGT GACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGA CTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACT GAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGA AGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAG GTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGT GCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGC GGGCTGCATGTCGGGGGAGCTGGCGGTGTGCACAGTGACTGAAGGTGCAA GCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGC TGCATGTCGGGGGAGCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01975.hp1 HG00544.hp2 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0232 a0002c0002t0002g0185 a0002c0002t0002g0232	2	191	0.0105	816	c.726 others(833): Show c.726+2582_726+2583insTGAAGGTGCAGGCTGCATGTCGGGGGAG CTGGCGGTGTGCACAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCT GGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGA CGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGAAGCTGGCG GTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGT GTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGT GGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGC AGAGTGACTGAAGGTGCAAGCTGCATGTCAGGGGAGCTGCCGGTGTGGAG AGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAG TGACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTG ACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGAC TGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTG AAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAA GGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGG TGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCACAGTGACTGAAGGTG CAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCA GGCTGCATGTCGGGGGAGCCGGCGGTGTGGAGAGTGAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79146424	T T	TGGCGGTG others(809): Show TGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTG GCGGTGTGCACAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGC GGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGACGG TGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGAAGCTGGCGGTG TGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTG CAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGGA GAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGA GTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGCCGGTGTGGAGAGT GACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGA CTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACT GAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGA AGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAG GTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGT GCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGC GGGCTGCATGTCGGGGGAGCTGGCGGTGTGCACAGTGACTGAAGGTGCAA GCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGC TGCATGTCGGGGGAGCC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0186 a0002c0002t0002g0186	1	190	0.0053	816	c.726 others(833): Show c.726+2582_726+2583insTGAAGGTGCAGGCTGCATGTCGGGGGAG CTGGCGGTGTGCACAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCT GGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGA CGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGAAGCTGGCG GTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGT GTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGT GGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGC AGAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGCCGGTGTGGAG AGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAG TGACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTG ACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGAC TGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTG AAGGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAA GGTGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGG TGCGGGCTGCATGTCGGGGGAGCTGGCGGTGTGCACAGTGACTGAAGGTG CAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCA GGCTGCATGTCGGGGGAGCCGGCGGTGTGGAGAGTGAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BRF1_chr14_105204286_105306001	105229720	G G	GTCCGCGT others(809): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCC TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGA GAGAGGCCACACCACTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	70	0.0143	816	c.695 others(831): Show c.695-808_695-807insTAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTG AGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCC CCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCC TGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGT CCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCT CCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCT GTCCCCCGCCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCT CTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGG CTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCT CTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCA GGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
CACNA1C_chr12_2047987_2702950	2520779	T T	TAGGAGGG others(809): Show TAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCT TCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGC TTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCC GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGC CGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGG CCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATG GCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAAT GGCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAA TGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCA ATGGCCGTGTGCTTCAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0037 a0001c0001t0043g0037	1	70	0.0143	816	c.139 others(835): Show c.1390+7876_1390+7877insCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCT TCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGC TTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGT GCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2539870	T T	TTTCATAA others(809): Show TTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTC ATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGG TTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGG GTTTCATAAAGATGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAT GCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGG GTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGA CTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAG GGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATA AAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAG GCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTT AAGGACTTAAGGAGGGC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0007 a0001c0025t0007	a0001c0025t0007g0014 a0001c0025t0007g0014	1	47	0.0213	816	c.139 others(837): Show c.1391-10044_1391-10043insCTTAAGGAGGGTTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGG TTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGG GCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAA AGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTA AGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAA GGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTT CATAAAGATGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAG GCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTT AAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTA AGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTT TCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGA TGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAG GGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGG ACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC183_chr9_136791338_136812741	136802884	C C	CCCAAGGC others(809): Show CCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC AGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCAGGGGCTCTCCAGGGCGGGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGG GCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0011 a0003c0003t0002g0011	1	382	0.0026	816	c.666 others(831): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGC CCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCAGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCTCTCCAGGGC GGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCAGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC88C_chr14_91266323_91422820	91293336	T T	TCACCTTC others(809): Show TCACCTTCCTGTCCCCTCACCTGCCACAGCCCACCTTCCCGTCCTCACCT GCCACGGTCCACCTTCCTGTCCCCTCACCTGCCACAGCCCACCTTCCTGT CCCCTCGCCTGCCACAGCTGACCTTCCTGTCCCCTCGCCTGCCACGGCCC ACCTTCCTGTCCCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCT GCCACAGCCCACCTTCCCGTCCTCACCTGCCACGGTCCACCTTCCCATCC TCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCA CAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCAC CCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCAT CCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCAC CTTCCTGCCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGC CACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCC CCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCCCAC CTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGC CACAGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCC CCTCGCCTGCCACAGCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp2 HG00639.hp1 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0050 a0001c0004t0001g0051	2	249	0.0080	816	c.411 others(833): Show c.4112+836_4112+837insGGCTGTGGCAGGCGAGGGGGCAGGAAGG TGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGG GGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGG CAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGACAGGAAGG TGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGG GGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGGCCGTGG CAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGG AAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAG GATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGG TGGACCGTGGCAGGTGAGGACGGGAAGGTGGGCTGTGGCAGGTGAGGGGA CAGGAAGGTGGGCTGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCA GGCGAGGGGACAGGAAGGTCAGCTGTGGCAGGCGAGGGGACAGGAAGGTG GGCTGTGGCAGGTGAGGGGACAGGAAGGTGGACCGTGGCAGGTGAGGACG GGAAGGTGGGCTGTGGCAGGTGAGGGGACAGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD2AP_chr6_47472789_47632263	47505621	G G	GGGCTGAC others(809): Show GGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCCGACCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGG CCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGAGGCGGCT GGCCGGGCGTGGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCCACCTCCCTCCCGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCACACGGGGC GGCTGGCCGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0264 a0001c0001t0011g0264	1	316	0.0032	816	c.165 others(833): Show c.165+2182_165+2183insGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCT CCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCTC CCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCACACGGGGCGGCTGGCCGGGCGGGGCG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(809): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGT GGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	66	0.0152	816	c.-25 others(827): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065146	A A	ATAGTATT others(809): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGG TGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTG GTAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0005 a0001c0035t0005	a0001c0035t0005g0097 a0001c0035t0005g0097	1	326	0.0031	816	c.-26 others(827): Show c.-2630_-2629insCCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTA ATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAAT ACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTA ATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAAT ACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATAC TACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2281		chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(809): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCT CTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0321 a0003c0004t0010g0321	1	38	0.0263	816	c.248 others(833): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAG ATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(809): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCT CTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0013 a0004c0006t0013	a0004c0006t0013g0310 a0004c0006t0013g0310	1	38	0.0263	816	c.248 others(833): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAG ATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar

Search by Variant

Search

Search Results