Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AFDN_chr6_167821911_167977023	167976497	T T	TGGGGAAG others(162): Show TGGGGAAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAG GAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGGC AGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGACAGTGGGGG TCATTCCCCCTGCAGTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0273 a0001c0007t0005g0273	1	326	0.0031	169	c.65 others(180): Show c.6562_*6563insGGGGAAGGAGGAGGCAGTGGGGGTCATTCCCCCT GCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTT GGGGGAGGAGAAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGG AGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4475		chr6	TogoVar
AHNAK2_chr14_104932253_104983374	104933612	C C	CGGGAGGG others(162): Show CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGCGACCCGCGGCTGAGTGAGGGGAGG GCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCG GGGCTGAGTGAGGGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02109.hp1 HG00733.hp1 HG02109.hp1	a0055 a0205 a0055 a0205	a0055c0205 a0205c0245 a0055c0205 a0205c0245	a0055c0205t0002 a0205c0245t0002 a0055c0205t0002 a0205c0245t0002	a0055c0205t0002g0069 a0205c0245t0002g0067 a0055c0205t0002g0069 a0205c0245t0002g0067	2	356	0.0056	169	c.44 others(180): Show c.4450_*4451insACCCTCCCCTCACTCAGCCCCGGGTCGCCTCCCG CCCTCCCGGTCCCCTCAGACGCGGGTCCCCTCCCGCCCTCCCCTCACTCA GCCGCGGGTCGCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCC CGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCCC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3640		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104933612	C C	CGGGAGGG others(162): Show CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGG GCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCG GGGCTGAGTGAGGGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	169	c.44 others(180): Show c.4450_*4451insACCCTCCCCTCACTCAGCCCCGGGTCGCCTCCCG CCCTCCCGGTCCCCTCAGACGCGGGTCCCCTCCCGCCCTCCCCTCACTCA GCCCCGGGTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCC CGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCCC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3640		chr14	TogoVar
AJAP1_chr1_4649609_4797534	4740369	T T	TGGGGAGT others(162): Show TGGGGAGTGAGTGTTGATGGGGACAGAGTGGGGGAGGGGGAGGGGGAGTG AGTGTTTGATGGGGACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTG ATGGGGACAGAGTGGGGGAGGGGGAGGGGGGAGTGAGTGAGTGATGGGGA CAGAGTGGGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	334	0.0030	169	c.829 others(188): Show c.829+27698_829+27699insGGGGGAGGGGGAGGGGGAGTGAGTGT TTGATGGGGACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGG GACAGAGTGGGGGAGGGGGAGGGGGGAGTGAGTGAGTGATGGGGACAGAG TGGGGGAGGGGGGAGGGGGAGTGAGTGTTGATGGGGACAGAGT	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4740369	T T	TGGGGAGT others(162): Show TGGGGAGTGAGTGTTGATGGGGACAGAGTGGGGGAGGGGGAGGGGGAGTG AGTGTTTGATGGGGACAGTGTTGGGGGAGGGGGAGGGGGAGTGAGTGAGT GATGGGGACAGAGTGGGGGAGGGGGAGGGGGGAGTGAGTGAGTGATGGGG ACAGAGTGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0007 a0003c0018t0007	a0003c0018t0007g0091 a0003c0018t0007g0091	1	334	0.0030	169	c.829 others(188): Show c.829+27698_829+27699insGGGGGAGGGGGAGGGGGAGTGAGTGT TTGATGGGGACAGTGTTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGG GGACAGAGTGGGGGAGGGGGAGGGGGGAGTGAGTGAGTGATGGGGACAGA GTGGGGGAGGGGGAGGGGGAGTGAGTGTTGATGGGGACAGAGT	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANKS1B_chr12_98738974_99989936	99387860	T T	TAAGAATT others(162): Show TAAGAATTGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0008	1	48	0.0208	169	c.175 others(190): Show c.1756+11770_1756+11771insGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTACAATTCTT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	12/26			chr12	TogoVar
ARHGEF18_chr19_7343937_7477478	7367759	A A	AAAATATA others(162): Show AAAATATATATATATATATATATACACATATATATATTATATATATATAT ACACATATATATATTTTATATATATATACACATATATATTTTATATATAT ATACACATATATATATTTTATATATATATACACATATATATATTTTATAT ATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0169 a0003c0003t0001g0169	1	298	0.0034	169	c.15+ others(184): Show c.15+4854_15+4855insAAATATATATATATATATATATACACATAT ATATATTATATATATATATACACATATATATATTTTATATATATATACAC ATATATATTTTATATATATATACACATATATATATTTTATATATATATAC ACATATATATATTTTATATATATATACACATATATATAT	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28			chr19	TogoVar
ARHGEF1_chr19_41878184_41912452	41896791	C C	CCTCCTCT others(162): Show CCTCCTCTCTCACCTCCCCCCTCCTCTCACCTCCCCCCTCCTCTCTCACC TCCCCCCTCCTCTCTCACCTCCCCTCTCCTCTCTCACCTCCCCCATCCTC TCTCACCTCCCCCCTCCTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCC CCTCCTCTCTCACCTCCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02572.hp1 others(11): Show HG02145.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03209.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0017 a0001c0002t0001g0028 others(9): Show a0001c0002t0001g0013 a0001c0002t0001g0017 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0042 a0001c0002t0001g0055 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0067 a0001c0002t0001g0119 a0001c0002t0001g0120	14	234	0.0598	169	c.112 others(186): Show c.1121+327_1121+328insCCTCCTCTCACCTCCCCCCTCCTCTCTC ACCTCCCCCCTCCTCTCTCACCTCCCCTCTCCTCTCTCACCTCCCCCATC CTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCCCCTCCTCTCTCACCTC CCCCCTCCTCTCTCACCTCCCCTCTCCTCTCTCACCTCCCC	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(162): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp1 HG02896.hp2 others(3): Show HG01243.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG03239.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0158 others(3): Show a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0257	6	264	0.0227	169	c.102 others(186): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCC TCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARRDC1_chr9_137600686_137620360	137610570	A A	ATTTTTTT others(162): Show ATTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCTCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGAT TCTCCTGCCTCAGCCTCCCTGGTAGCTGGGATTACAGGCATGTGCCACCA TGCCTGGCTAATTTTTGTAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	338	0.0030	169	c.119 others(186): Show c.119-2173_119-2172insTGGCTAATTTTTGTATTTTTTTTTTTGA GATGGAGTTTCACTCTTGTTGCTCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAG CCTCCCTGGTAGCTGGGATTACAGGCATGTGCCACCATGCC	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASB5_chr4_176208673_176274222	176218322	G G	GATATATA others(162): Show GATATATAAATATACATGTATGATATATAAATATATATTTGTATGATATA TAAATATATATATATTTGTATGATATATAAATATATATATATTTGTATGA TATATATATTTGTATGATATATAAATATATATTTGTATGACATATAAATA TATATTTGTATGACATATAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18947.hp2 NA18963.hp2 others(6): Show NA18943.hp1 NA18947.hp2 NA18963.hp2 NA18964.hp1 NA19000.hp1 NA19002.hp1 NA19057.hp1 NA19081.hp2 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 others(4): Show a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0266 a0001c0002t0001g0271 a0001c0002t0001g0274 a0001c0002t0001g0287	9	410	0.0220	169	c.671 others(186): Show c.671-1314_671-1313insTTATATGTCATACAAATATATATTTATA TGTCATACAAATATATATTTATATATCATACAAATATATATATCATACAA ATATATATATATTTATATATCATACAAATATATATATATTTATATATCAT ACAAATATATATTTATATATCATACATGTATATTTATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(162): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	378	0.0027	169	c.960 others(186): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP10B_chr5_160558120_160857211	160653852	T T	TATACAAC others(162): Show TATACAACATAAATATATGTTGTATATACGTATATACAACATAAATATAT GTTGTATATACGTATATACATATATAAATATATGTTGTATATACGTATAT ACATATATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACAAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0042 a0001c0005t0014g0042	1	236	0.0042	169	c.676 others(186): Show c.676-4597_676-4596insGTTGTATATACGTATATACAACATATAT TTATGTTGTATATACGTATATACAACATATATTTATATATGTATATACGT ATATACAACATATATTTATATATGTATATACGTATATACAACATATATTT ATGTTGTATATACGTATATACAACATATATTTATGTTGTAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
B4GALNT3_chr12_454939_568509	544037	C C	CGGGCATG others(162): Show CGGGCATGGGGTGCTCATCTTCCCAGAGCTGAGGAGCTGGGGCGGGCATG GGGTGCTCATCTTCCTGGAGCTGAGGAGCTGGGACGGGCATGGGGTGCTC ATCCTCCTGGAGCTGAGGATCTGGGGCGGGTGTGGGATGCTCATCCTCCT GGAGCTGAGGCTCTGGGGGA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	394	0.0025	169	c.352 others(184): Show c.352-135_352-134insGAGGGCATGGGGTGCTCATCTTCCCAGAGC TGAGGAGCTGGGGCGGGCATGGGGTGCTCATCTTCCTGGAGCTGAGGAGC TGGGACGGGCATGGGGTGCTCATCCTCCTGGAGCTGAGGATCTGGGGCGG GTGTGGGATGCTCATCCTCCTGGAGCTGAGGCTCTGGGG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCHE_chr3_165767904_165842423	165797268	T T	TCCTTCTT others(162): Show TCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCT TCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCT TCCTCCCTCCCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02922.hp1 HG03225.hp2 HG01433.hp2 HG02922.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0227	3	304	0.0099	169	c.151 others(190): Show c.1518-10958_1518-10957insGAGGGGGGAGGGAGGGAGGAAGGA GGGAGGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGG AGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGA AGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425953	G G	GGGGGAAG others(162): Show GGGGGAAGTGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGA GGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAG GGGAGGGGAGGGGAAGGGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18969.hp1 NA19000.hp2 HG03669.hp1 NA18969.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0055 a0001c0001t0001g0100 a0001c0002t0001g0243 a0001c0001t0001g0055 a0001c0001t0001g0100 a0001c0002t0001g0243	3	276	0.0109	169	c.490 others(188): Show c.490-21359_490-21358insAGTGGAGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGA AGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(162): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGGGAAGG GGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGG GAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	276	0.0036	169	c.490 others(188): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGG GAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGA AGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAAGGCAGGGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(162): Show GAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGG GGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	276	0.0036	169	c.490 others(188): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGGAGGGGGGAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGG GGAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGG AAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAAGGCAGGGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(162): Show GAGGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGG GGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGGAGGGGAAGG GGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0227	1	276	0.0036	169	c.490 others(188): Show c.490-21336_490-21335insGGGGGAGGGGGGAGGGGAGGGGGAGG GGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGG GAGGGGGAGGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGG AAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAAGGCAGGGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSG_chr19_567596_588493	570679	G G	GGGTGGAA others(162): Show GGGTGGAAGCGGCGGAGGGGTGGGTGGGGGAGGGGCGGGTGGAAGGGGCG GGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGTGGGGGAGGGGCGGAGGGG TGGGGGAGGGGGCGGAGGGGTGGGTGGGGGAGGGGTGGGTGGAAGGGGCG GGGGTGGGTGGGGGAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01071.hp1 others(3): Show HG00323.hp2 HG01070.hp1 HG01071.hp1 HG01168.hp1 HG01169.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0157 a0001c0001t0003g0013 a0001c0001t0003g0100 others(1): Show a0001c0001t0002g0157 a0001c0001t0003g0013 a0001c0001t0003g0100 a0001c0001t0003g0145	6	306	0.0196	169	c.-19 others(180): Show c.-1956_-1955insGGTGGAAGCGGCGGAGGGGTGGGTGGGGGAGGGG CGGGTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGTGGG GGAGGGGCGGAGGGGTGGGGGAGGGGGCGGAGGGGTGGGTGGGGGAGGGG TGGGTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1916		chr19	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCTCCTC others(162): Show CTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCCCC TCCTCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	330	0.0030	169	c.431 others(186): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCCCCTCCTCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
C18orf63_chr18_74310839_74364189	74361918	G G	GTATAATA others(162): Show GTATAATATAATTTATAATTATATACGTATAATATAATTTATATTATATA TGCATATATAATATAATTTATATTATATATGCATATATAATATAAATTAT ATTATATATGCATATATAATATAATTTATATTATATATGCATATATAATA TAATTTATATTATATGCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA19066.hp2 NA18957.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0133 a0001c0001t0002g0139	2	372	0.0054	169	c.54 others(180): Show c.5471_*5472insTATAATATAATTTATAATTATATACGTATAATAT AATTTATATTATATATGCATATATAATATAATTTATATTATATATGCATA TATAATATAAATTATATTATATATGCATATATAATATAATTTATATTATA TATGCATATATAATATAATTTATATTATATGCATA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2730		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74361918	G G	GTATAATA others(162): Show GTATAATATAATTTATAATTATATACGTATAATATAATTTATATTATATA TGCATATATAATATAATTTATATTATATATGCATATATAATATAATTTAT ATTATATATGCATATATAATATAATTTATATTATATATGCATATATAATA TAAATTATATTATATGCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG01069.hp1 others(13): Show HG00099.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp2 HG01358.hp2 HG01433.hp2 HG01884.hp2 HG01981.hp2 HG03490.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04228.hp2 HG06807.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0047 a0001c0001t0002g0069 a0001c0001t0002g0070 others(12): Show a0001c0001t0002g0047 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0126 a0001c0001t0002g0138 a0001c0001t0002g0148 a0001c0001t0002g0216 a0001c0001t0003g0217	16	372	0.0430	169	c.54 others(180): Show c.5471_*5472insTATAATATAATTTATAATTATATACGTATAATAT AATTTATATTATATATGCATATATAATATAATTTATATTATATATGCATA TATAATATAATTTATATTATATATGCATATATAATATAATTTATATTATA TATGCATATATAATATAAATTATATTATATGCATA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2730		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74361918	G G	GTATAATA others(162): Show GTATAATATAATTTATAATTATATACGTATAATATAATTTATATTATATA TGCATATATAATATAATTTATATTATATATGCATATATAATATAATTTAT ATTATATATGCATATATAATATAATTTATATTATATATGCATATATAATA TAATTTATATTATATGCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00639.hp2 others(40): Show HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01516.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp2 HG02280.hp2 HG02615.hp2 HG02622.hp1 HG02738.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 NA18948.hp2 NA18959.hp2 NA18968.hp2 NA18981.hp1 NA18987.hp2 NA18988.hp2 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19055.hp1 NA19077.hp2 NA19079.hp2 NA19087.hp2 NA19090.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0008c0015	a0001c0001t0002 a0001c0001t0008 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0003 a0001c0017t0008 a0008c0015t0028	a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0019 others(28): Show a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0157 a0001c0001t0002g0162 a0001c0001t0008g0042 a0001c0001t0008g0128 a0001c0001t0008g0140 a0001c0001t0008g0143 a0001c0001t0008g0146 a0001c0002t0003g0030 a0001c0017t0008g0144 a0008c0015t0028g0131	43	372	0.1156	169	c.54 others(180): Show c.5471_*5472insTATAATATAATTTATAATTATATACGTATAATAT AATTTATATTATATATGCATATATAATATAATTTATATTATATATGCATA TATAATATAATTTATATTATATATGCATATATAATATAATTTATATTATA TATGCATATATAATATAATTTATATTATATGCATA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2730		chr18	TogoVar
C7orf50_chr7_992006_1143247	1116532	A A	ACGGACCG others(162): Show ACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACAGCACTGC AGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACAG CACTACAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGA TGACATCACTACAGCTCTAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0001 a0001c0001t0020g0001	1	326	0.0031	169	c.129 others(188): Show c.129+10724_129+10725insGTAGAGCTGTAGTGATGTCATCATCC TGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTGCTGTCA TCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTG CTGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1116923	A A	ACGGACCG others(162): Show ACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTAC AGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACAT CACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGA TGACATCACTGCAGCTCTAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0295 a0001c0001t0005g0295	1	326	0.0031	169	c.129 others(188): Show c.129+10333_129+10334insGTAGAGCTGCAGTGATGTCATCATCC TGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCA TCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTG ATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1116978	A A	ACGGACCG others(162): Show ACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACACCACTGC AGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACAT CACTGCAGCTCTACGGACCGGCTTCCAGCACCGACGCCCACGCAGGATGA TGACATCACTACAGCTCTAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01074.hp1 others(18): Show HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01255.hp1 HG01361.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp2 HG03704.hp1 HG04204.hp2 NA18948.hp1 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18975.hp1 NA18983.hp2 NA18985.hp2 NA19007.hp1 NA19082.hp1 NA20300.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0001t0029 a0001c0001t0030 a0003c0004t0002	a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0215 others(18): Show a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0286 a0001c0001t0003g0213 a0001c0001t0011g0226 a0001c0001t0015g0225 a0001c0001t0029g0224 a0001c0001t0030g0326 a0003c0004t0002g0230	21	326	0.0644	169	c.129 others(188): Show c.129+10278_129+10279insGTAGAGCTGTAGTGATGTCATCATCC TGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCA TCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTG GTGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1A_chr19_13201442_13511479	13221234	C C	CTTTCTTT others(162): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTTCTTTCTTTCTTTC TTTCTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01256.hp1 HG01261.hp1 others(4): Show HG00140.hp2 HG01256.hp1 HG01261.hp1 HG02056.hp2 HG02083.hp1 NA18973.hp2 NA21309.hp1	a0002 a0007 a0008 others(2): Show a0002 a0007 a0008 a0009 a0045	a0002c0002 a0002c0003 a0002c0086 others(4): Show a0002c0002 a0002c0003 a0002c0086 a0007c0009 a0008c0012 a0009c0051 a0045c0036	a0002c0002t0003 a0002c0003t0003 a0002c0086t0003 others(4): Show a0002c0002t0003 a0002c0003t0003 a0002c0086t0003 a0007c0009t0003 a0008c0012t0003 a0009c0051t0002 a0045c0036t0028	a0002c0002t0003g0181 a0002c0003t0003g0177 a0002c0086t0003g0035 others(4): Show a0002c0002t0003g0181 a0002c0003t0003g0177 a0002c0086t0003g0035 a0007c0009t0003g0069 a0008c0012t0003g0091 a0009c0051t0002g0184 a0045c0036t0028g0173	7	218	0.0321	169	c.573 others(188): Show c.5731+3432_5731+3433insAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1I_chr22_39565753_39694735	39596214	T T	TGGGGAGC others(162): Show TGGGGAGCAGGGCGGAGAGAGATGGGGGGGGCAGGGCGGAGAGAGATGGG GAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGGGC AGGGCGGAGAGAGATGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGC GGAGAGAGATGGGGGGGCAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0183 a0001c0002t0003g0183	1	236	0.0042	169	c.237 others(186): Show c.237-1935_237-1934insGGAGCAGGGCGGAGAGAGATGGGGGGGG CAGGGCGGAGAGAGATGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGG CGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGAGCAGGGCGGAG AGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(162): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAAGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0069 a0001c0016t0005g0069	1	284	0.0035	169	c.712 others(186): Show c.712-2416_712-2415insCCCCCACCCACACCCTTCCCCCACCCCA CCCCACCCTTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACC CTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCAC CCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC171_chr9_15548043_15979037	15767830	T T	TCCCTCCC others(162): Show TCCCTCCCTCCCTCCCTCCCTCCCACCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTTGCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0036 a0004c0004t0003g0036	1	266	0.0038	169	c.267 others(188): Show c.2672-9768_2672-9767insCTCCCTCCCTCCCTCCCTCCCACCCT CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTGCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15767830	T T	TCCCTCCC others(162): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTTGCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCCCCCCTCCCCTCC CCTCCCCTCCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19001.hp2 HG02602.hp2 NA19001.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0026 a0004c0004t0003g0043 a0004c0004t0003g0026 a0004c0004t0003g0043	2	266	0.0075	169	c.267 others(188): Show c.2672-9768_2672-9767insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTGCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCCCCCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15767830	T T	TCCCTCCC others(162): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTTGCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18983.hp1 NA19077.hp1 NA18972.hp2 NA18983.hp1 NA19077.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0013 a0004c0004t0003 a0004c0004t0013	a0004c0004t0003g0040 a0004c0004t0003g0047 a0004c0004t0013g0042 a0004c0004t0003g0040 a0004c0004t0003g0047 a0004c0004t0013g0042	3	266	0.0113	169	c.267 others(188): Show c.2672-9768_2672-9767insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTGCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(162): Show CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCC CCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTC CCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01175.hp2 HG01361.hp2 HG01123.hp2 HG01175.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0139 a0002c0002t0001g0005 a0002c0002t0001g0139	3	410	0.0073	169	c.-22 others(180): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(162): Show CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCC CCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTC CCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	410	0.0024	169	c.-22 others(180): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(162): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCC CCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTC CCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18993.hp1 HG02165.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0044 a0002c0002t0001g0017 a0002c0002t0001g0044	2	410	0.0049	169	c.-22 others(180): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAATATAT others(162): Show AAATATATATATATATATATATATATATATATATATATATATATACTCAT ATATATATATATACTCATATATATATATATACTCATATATATATATATTC ATATATATATACTCATATATATATATATACTCATATATATATATATTCAT ATATATATATATATATATTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	370	0.0027	169	c.232 others(190): Show c.2326-11614_2326-11613insATATATATATATATATATATATAT ATATATATATATATATATACTCATATATATATATATACTCATATATATAT ATATACTCATATATATATATATTCATATATATATACTCATATATATATAT ATACTCATATATATATATATTCATATATATATATATATATATTCA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH6_chr5_31188686_31334146	31217572	T T	TTTAATAA others(162): Show TTTAATAAGTACCTGGGCCAGACACCATGCCAGACACTGGGATGCTGTAA TCAACAAGACATCCTCCCTAACCTCAAAGAACTGAATGGTTAGGTGGCGA GGTAAAACACAGTAACTGATGTTGAGGGGGTGAACATTTTTCAGCTCAGC CACAGGTACACACAAGTTAC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0284 a0001c0002t0005g0284	1	338	0.0030	169	c.-12 others(190): Show c.-129+23687_-129+23855dupTTAATAAGTACCTGGGCCAGACAC CATGCCAGACACTGGGATGCTGTAATCAACAAGACATCCTCCCTAACCTC AAAGAACTGAATGGTTAGGTGGCGAGGTAAAACACAGTAACTGATGTTGA GGGGGTGAACATTTTTCAGCTCAGCCACAGGTACACACAAGTTAC	CDH6	ENSG00000113361.13	transcript	ENST00000265071.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650139	T T	TGGACTGT others(162): Show TGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAG GTGTGGACTGTGAGGTGGGACTGTGAGGTGTGACTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGACTG TGAGGCGTGACTGAGGCGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	91	0.0110	169	c.177 others(188): Show c.1778+2224_1778+2225insGACTGTGAGGCGTGACTGTGAGGCGT GACTGTGAGGCGTGACTGTGAGGTGTGGACTGTGAGGTGGGACTGTGAGG TGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTGTGAG GCGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGAGGCGTGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(162): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGGGGAGG GGAGGGGAGGAGGGGAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGAGAAGAGGAGAG GAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG04199.hp2 HG03491.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0279 a0001c0001t0001g0280	2	384	0.0052	169	c.319 others(186): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCTCCCCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHMP1A_chr16_89639435_89662708	89648321	G G	GACCCAGC others(162): Show GACCCAGCGCGGGGTCCGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGC GCGGGGGTCCGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGT CCGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	392	0.0026	169	c.253 others(184): Show c.253-991_253-990insGTCCACGTCGGCCGCCTTTTCTCCACCGAC CCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACGGACCCCGCGCT GGGTCTCCACGTCGGCCGCCTTTTCTCCACGGACCCCCGCGCTGGGTCTC CACGTCGGCCGCCTTTTCTCCACGGACCCCGCGCTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648321	G G	GACCCAGC others(162): Show GACCCAGCGCGGGGTCCGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGC GCGGGGTCCGTGGAGAAAAGGCGGCCGACGTGGACACCCAGCGCGGGGTC CGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	392	0.0026	169	c.253 others(184): Show c.253-991_253-990insGTCCACGTCGGCCGCCTTTTCTCCACCGAC CCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACGGACCCCGCGC TGGGTGTCCACGTCGGCCGCCTTTTCTCCACGGACCCCGCGCTGGGTCTC CACGTCGGCCGCCTTTTCTCCACGGACCCCGCGCTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(162): Show CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGT CGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGGTCGGTGGAGAAAAGGC GGCCGACGTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	392	0.0026	169	c.252 others(184): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACT GGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(162): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTT AATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0256 a0001c0001t0006g0256	1	402	0.0025	169	c.80- others(184): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATA TATAAAATATTTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNBD1_chr8_86861415_87387859	87136798	T T	TTTATATT others(162): Show TTTATATTAAATATAAATATATATATTTATATTAAATATAAATATATATA TTTATATATAATATAAATATATATATTTATATTATATATAAATATATATA TTTATATTATATATAAATATATATATTTATATTAAATATAAATATATATA TTTATATTAAATATAAATTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03486.hp2 HG03225.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0003 a0002c0002t0001g0090 a0001c0001t0002g0003 a0002c0002t0001g0090	2	152	0.0132	169	c.432 others(188): Show c.432-69194_432-69193insTATATTAAATATAAATATATATATTT ATATTAAATATAAATATATATATTTATATATAATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTATATATAAATATATATATTT ATATTAAATATAAATATATATATTTATATTAAATATAAATTAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNOT3_chr19_54132762_54160681	54133769	C C	CTCTTCCT others(162): Show CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTCTCTCCACCTCCCCTCCCTCTCTCCCTCCCTCTCTCCACCTCCCCT CCCTCTCTCCACCTTCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	223	0.0045	169	c.-42 others(180): Show c.-4275_-4274insTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCCTCCCT CTCTCCACCTCCCCTCCCTCTCTCCACCTTCCCTCTCTCTCCCTCCCTCT CTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3992		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54134245	C C	CTCCCTCT others(162): Show CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCCACCTCCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	223	0.0045	169	c.-37 others(180): Show c.-3799_-3798insTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3516		chr19	TogoVar
CNR2_chr1_23865515_23918362	23899932	A A	AAGGAAGG others(162): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAAAGAAAG AAAAGAAAGAAAGAGGGAAG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0150 a0001c0001t0016g0150	1	268	0.0037	169	c.-46 others(188): Show c.-46+13313_-46+13314insCTTCCCTCTTTCTTTCTTTTCTTTCT TTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	148331594	A A	ATGGACGG others(162): Show ATGGACGGATGGAGTGGATGGATGGAGTGGATGGATGGAATGGACGGATG GAGTGGATGGATGGAGTGGATGGATGGAATGGACGGATGGAGTGGATGGA TGGAATGGACAGATGGAGTGGATGGATAGAGTGGATGGATGGAACGGACG GATGGAATGGACGGATGGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp1 HG03225.hp2 HG02486.hp2 HG02886.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0018 a0001c0003 a0001c0018	a0001c0003t0011 a0001c0003t0013 a0001c0018t0002 a0001c0003t0011 a0001c0003t0013 a0001c0018t0002	a0001c0003t0011g0023 a0001c0003t0013g0010 a0001c0018t0002g0012 a0001c0003t0011g0023 a0001c0003t0013g0010 a0001c0018t0002g0012	3	40	0.0750	169	c.347 others(190): Show c.3476-52051_3476-52050insCGGATGGAGTGGATGGATGGAGTG GATGGATGGAATGGACGGATGGAGTGGATGGATGGAGTGGATGGATGGAA TGGACGGATGGAGTGGATGGATGGAATGGACAGATGGAGTGGATGGATAG AGTGGATGGATGGAACGGACGGATGGAATGGACGGATGGAGTGGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(162): Show AAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAA GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG CAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAAGAAGG GAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0091 a0001c0059t0001g0091	1	344	0.0029	169	c.85- others(186): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCTTG CCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTGCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTGC CCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar

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