Joint Open Genome and Omics Platform (JoGo)

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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
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(474): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0195 a0001c0001t0016g0195	1	33	0.0303	481	c.53- others(494): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(474): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTG TCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCT CCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCC CCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	33	0.0303	481	c.53- others(494): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCT CCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(474): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0001 a0006c0008t0003g0001	1	25	0.0400	481	c.483 others(496): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCC CTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTC C	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCB11_chr2_168915781_169036324	168975303	T T	TTATAGAT others(475): Show TTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATAT AAATATTTATATATTTATAGATAAATATATAAATATATAAATATTTTTAT ATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAA ATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT ATAAATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTT ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATTTTTATATTTATAGATAAATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0012 a0012	a0012c0057 a0012c0057	a0012c0057t0016 a0012c0057t0016	a0012c0057t0016g0107 a0012c0057t0016g0107	1	280	0.0036	482	c.130 others(501): Show c.1308+1273_1308+1274insTATATTTATCTATAAATATAAAAATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATT TATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAA TATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATT TATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATC TATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATATA AATATTTATATATTTATATATTTATCTATAAATATATAAATATTTATATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTA TCTATA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975303	T T	TTATAGAT others(475): Show TTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATAT AAATATTTATATATTTATAGATAAATATATAAATATATAAATATTTTTAT ATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAA ATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTT ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATTTTTATATTTATAGATAAATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA20300.hp2 HG02486.hp1 NA20300.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0007 a0004c0009t0022 a0004c0009t0007 a0004c0009t0022	a0004c0009t0007g0108 a0004c0009t0022g0106 a0004c0009t0007g0108 a0004c0009t0022g0106	2	281	0.0071	482	c.130 others(501): Show c.1308+1273_1308+1274insTATATTTATCTATAAATATAAAAATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATT TATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATT TATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATC TATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATATA AATATTTATATATTTATATATTTATCTATAAATATATAAATATTTATATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTA TCTATA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1159524	A A	AATGCGGT others(475): Show AATGCGGTACTCACACACAGGAGAAGTAGGAATGCGGTACTCACGCACAA GGGAAGTATGCGGTACTCACACACATGAGAAGTAAGAATGCGGTACTCAC ACACAAGGGAAGTATGCGGTACTCACACACAGGAGAAGTAAGAATGCGGT ACTCACACACGGGAGAAGTAAGAATGCGGTACTCACACACAAGGGAAGTA TGCGGTACTCACACACAGGAGAAGTAGGAATGCAGTACTCACACACAGGA GAAGTAAGAATGCGGTACTCACACACAAGGGAAGTATGCGGTACTCACAC ACAGGAGAAGTAGGAATGCAGTACTCACACACAGGAGAAGTAAGAATGCA GTACTCACGCACAAGGGAAGTATGCGGTACTCACACACAGGAGAAGTAAG AATGCGGTACTCACGCACAAGGGAAGTATGCGGTACTCACACACAGGAGA AGTAAGAATGCGGTACTCACGCACAAGGGAAGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02015.hp2 HG02040.hp2 others(8): Show HG00738.hp2 HG02015.hp2 HG02040.hp2 HG02523.hp1 HG03834.hp2 HG04199.hp2 NA18747.hp2 NA18954.hp2 NA18980.hp1 NA19063.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0026 a0001c0001t0030 a0001c0001t0033 a0001c0001t0064 a0001c0001t0077	a0001c0001t0001g0188 a0001c0001t0004g0258 a0001c0001t0004g0301 others(8): Show a0001c0001t0001g0188 a0001c0001t0004g0258 a0001c0001t0004g0301 a0001c0001t0007g0289 a0001c0001t0009g0045 a0001c0001t0013g0042 a0001c0001t0026g0026 a0001c0001t0030g0106 a0001c0001t0033g0328 a0001c0001t0064g0136 a0001c0001t0077g0290	11	336	0.0327	482	c.61+ others(499): Show c.61+20142_61+20143insACTTCCCTTGTGCGTGAGTACCGCATTC TTACTTCTCCTGTGTGTGAGTACCGCATACTTCCCTTGTGCGTGAGTACC GCATTCTTACTTCTCCTGTGTGTGAGTACCGCATACTTCCCTTGTGCGTG AGTACTGCATTCTTACTTCTCCTGTGTGTGAGTACTGCATTCCTACTTCT CCTGTGTGTGAGTACCGCATACTTCCCTTGTGTGTGAGTACCGCATTCTT ACTTCTCCTGTGTGTGAGTACTGCATTCCTACTTCTCCTGTGTGTGAGTA CCGCATACTTCCCTTGTGTGTGAGTACCGCATTCTTACTTCTCCCGTGTG TGAGTACCGCATTCTTACTTCTCCTGTGTGTGAGTACCGCATACTTCCCT TGTGTGTGAGTACCGCATTCTTACTTCTCATGTGTGTGAGTACCGCATAC TTCCCTTGTGCGTGAGTACCGCATTCCTACTTCTCCTGTGTGTGAGTACC GCAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTRT2_chr1_3016467_3027903	3016683	G G	GGGAGGGA others(475): Show GGGAGGGAGGAGAGAGGAAGGGAGGGAGGGAGGGAGGGAGGAGGGAGGGA GGAGAGAGGAAAGGAAGAAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGAG GAAGGGAGGGAGGGAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGAAGTGA GGAAAGAAGGAGGGAGGGGAGAGAAAATGGAGGAAGGAGGATGGGAACAG GGGAGGGAGAGAAGGAGGAAGGAAGGAGGGAAGGAGATACGTAGGAAGGA AGGAGGGAAAAAGGAAGAGAGAAAGGGAAGGAAGGAGGGAGGAAGGGAGG AAGGAAGGAGAGAGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAA GAAGGGAGGGGAGAGGAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGAT GGAGAAGGGAGGGAGGGAGGAAGCGAGGAGGAGAGGGAGGGAGGTGGGAG GGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA19074.hp2 NA18999.hp1 NA19074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0000 a0001c0004t0002g0000	2	231	0.0087	482	c.-50 others(493): Show c.-5004_-5003insGGAGGGAGGAGAGAGGAAGGGAGGGAGGGAGGGA GGGAGGAGGGAGGGAGGAGAGAGGAAAGGAAGAAGGGAGGGAGGGAGGAG GGAGGGAGGAGAGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAAGGAGAGA AGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAATGGAGGAA GGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGGAGGGAAGGA GATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGGAAGGAAGG AGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGGGGAGG GAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGAAGGTAA GGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAGGAGAG GGAGGGAGGTGGGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4783		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169771266	A A	ATATAAAA others(475): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	399	0.0025	482	c.-17 others(493): Show c.-1747_-1746insATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATAT GATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTAT ATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTT TTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAA ATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1706		chr3	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(475): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CACGTATACGTATACACACATATACACGTATACGTATACGTGTACACACA TATACACGTATATACGTATACGTGTACACACATATATATACACGTATATA CGTATACGTGTACACACATATATATACACGTATATATACGTATACGTGTA CACACACACACGTATATATACGTATACGTGTACACACACACGTATATATA CGTATACGTGTACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACACGTATATACGTA TACGTGTACACACACACGTATATACGTATACGTGTACACACACATACACG TATATACGTATACGTGTACACACACATACACGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	112	0.0089	482	c.48- others(499): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACACGTATACGTATACACACATATACACGTATACGTATACGTGT ACACACATATACACGTATATACGTATACGTGTACACACATATATATACAC GTATATACGTATACGTGTACACACATATATATACACGTATATATACGTAT ACGTGTACACACACACACGTATATATACGTATACGTGTACACACACACGT ATATATACGTATACGTGTACACACACGTATATATACGTATACGTGTACAC ACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTAT ACGTGTACACACACACGTATATACGTATACGTGTACACACACACACGTAT ATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACAC ATACACGTATATACGTATACGTGTACACACACATACACGTATATACGTAT ACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(475): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGAGGGGAGT CGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGGGAGGGGAG GGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGAT GGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAA GGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAG GGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGCGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0287 a0002c0002t0001g0287	1	137	0.0073	482	c.248 others(497): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCGCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTT CCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTC ACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCT CCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCC CCCCTCCCCTCCCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCG TCGACTCCCCTCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCC TCCTCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCC CCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTC CCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCC TC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132758927	G G	GTGGCAGA others(475): Show GTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCA GAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGTAGAGAGG ATCGCTGCGGAGTGGCACCCTGGGGCACCCACGTGGCAGAGTGGATCGCT GCGGAGTGGCACCCTGGGGCACCCATGTGGCAGAGTGGATCGCTGCGGAG TGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCACAGCGTGGCACC CCGGGGCACCCACGTGGCAGAGAGGATCGCGTGGACTGGCACCCCGGGGC ACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCAC GTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCA GAGTGGATCGCTGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGG ATCGCTGCGGAGTGGCACCCCAGGGCACCCACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01934.hp1 HG02809.hp1 others(1): Show HG01175.hp1 HG01934.hp1 HG02809.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0017 a0002c0002t0001g0037 others(1): Show a0002c0002t0001g0005 a0002c0002t0001g0017 a0002c0002t0001g0037 a0002c0002t0001g0038	4	344	0.0116	482	c.181 others(499): Show c.181+2690_181+2691insTGTGGGTGCCCTGGGGTGCCACTCCGCA GCGATCCACTCTGCCACGTGGGTGCCCCGGGATGCCACTCCGCAGCGATC CACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCT GCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACG TGGGTGCCCCGGGGTGCCAGTCCACGCGATCCTCTCTGCCACGTGGGTGC CCCGGGGTGCCACGCTGTGCGATCCACTCTGCCACGTGGGTGCCCCGGGG TGCCACTCCGCAGCGATCCACTCTGCCACATGGGTGCCCCAGGGTGCCAC TCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCAGGGTGCCACTCCGCA GCGATCCTCTCTACCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATC CACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCT GCCA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132758927	G G	GTGGCAGA others(475): Show GTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCA GAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGTAGAGAGG ATCGCTGCGGAGTGGCACCCTGGGGCACCCACGTGGCAGAGTGGATCGCT GCGGAGTGGCACCCTGGGGCACCCATGTGGCAGAGTGGATCGCTGCGGAG TGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCACAGCGTGGCACC CCGGGGCACCCACGTGGCAGAGAGGATCGCGTGGACTGGCACCCCGGGGC ACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCAC GTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCA GAGTGGATCGCTGCGGAGTGGCATCCTGGGGCACCCACGTGGCAGAGTGG ATCGCTGCGGAGTGGCACCCCAGGGCACCCACA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	341	0.0029	482	c.181 others(499): Show c.181+2690_181+2691insTGTGGGTGCCCTGGGGTGCCACTCCGCA GCGATCCACTCTGCCACGTGGGTGCCCCAGGATGCCACTCCGCAGCGATC CACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCT GCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACG TGGGTGCCCCGGGGTGCCAGTCCACGCGATCCTCTCTGCCACGTGGGTGC CCCGGGGTGCCACGCTGTGCGATCCACTCTGCCACGTGGGTGCCCCGGGG TGCCACTCCGCAGCGATCCACTCTGCCACATGGGTGCCCCAGGGTGCCAC TCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCAGGGTGCCACTCCGCA GCGATCCTCTCTACCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATC CACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCT GCCA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759167	A A	AGTGGCAT others(475): Show AGTGGCATCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGC ATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCATCCTG GGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCAGGGCAC CCACATGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCACCCACGTG GCAGAGAGGATCGCTGCAGAGTGGCACCCCAGGGCACCCACGTGGCAGAG AGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATC GCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATTGCTGCG GAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGG CATCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCC AGGGCACCCACATGGCAGAGTGGATTGCGCAGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18942.hp1 HG00438.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0149 a0001c0001t0001g0154	2	346	0.0058	482	c.181 others(499): Show c.181+2450_181+2451insACTGCGCAATCCACTCTGCCATGTGGGT GCCCTGGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCA GGATGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGATGC CACTCCGCAGCAATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCC GCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCG ATCCTCTCTGCCACGTGGGTGCCCTGGGGTGCCACTCTGCAGCGATCCTC TCTGCCACGTGGGTGCCCCGGGGTGCCACACTGCGCAATCCACTCTGCCA TGTGGGTGCCCTGGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGG TGCCCCAGGATGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCC GGGATGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCAGGATG CCAC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ARHGAP40_chr20_38596809_38655653	38653169	G G	GGTGATGA others(475): Show GGTGATGATGGTGGTGGTGGTGATGGAAATGATGATGATGTTAGTTGTGG TGTTGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGGTG ATAATGATGGTAGTGGTGGTGGTGATGATGGTGATGATGATTATGATGGT GTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGGTGATGGA AATGATGATGATGTTAATTGTGGTGTTGATGATGGTAATGATAATGATTG TGATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTG ATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGTGAT AGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGATGG TGATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATCATG CTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01884.hp1 HG01891.hp2 others(6): Show HG01261.hp1 HG01884.hp1 HG01891.hp2 HG02622.hp1 HG03540.hp2 HG03579.hp1 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0004 a0006 a0007 others(2): Show a0004 a0006 a0007 a0020 a0021	a0004c0011 a0006c0013 a0006c0017 others(3): Show a0004c0011 a0006c0013 a0006c0017 a0007c0009 a0020c0023 a0021c0039	a0004c0011t0007 a0006c0013t0008 a0006c0017t0008 others(3): Show a0004c0011t0007 a0006c0013t0008 a0006c0017t0008 a0007c0009t0013 a0020c0023t0011 a0021c0039t0013	a0004c0011t0007g0288 a0006c0013t0008g0027 a0006c0013t0008g0299 others(5): Show a0004c0011t0007g0288 a0006c0013t0008g0027 a0006c0013t0008g0299 a0006c0017t0008g0045 a0006c0017t0008g0104 a0007c0009t0013g0041 a0020c0023t0011g0116 a0021c0039t0013g0280	9	50	0.1800	482	c.33 others(493): Show c.3321_*3322insGTGATGATGGTGGTGGTGGTGATGGAAATGATGA TGATGTTAGTTGTGGTGTTGATGATGGTAATGATAATGATTGTGATGGTG GTGTTGGTGGTGGTGATAATGATGGTAGTGGTGGTGGTGATGATGGTGAT GATGATTATGATGGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGT GGTGGTGGTGATGGAAATGATGATGATGTTAATTGTGGTGTTGATGATGG TAATGATAATGATTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATAATG GTGGTGGTGGTGGTGATGGTGATGATGATTATGATGGTGGTGGTGGTGGT GGTGGTGCTGGTGATAGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGG TGGTGGTGATGATGGTGATGATGATTATGATGGTGGTGTTGGTGGTGCTG GTGATGATAATCATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2517		chr20	TogoVar
ARHGAP40_chr20_38596809_38655653	38653169	G G	GGTGATGA others(475): Show GGTGATGATGGTGGTGGTGGTGATGGAAATGATGATGATGTTAGTTGTGG TGTTGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGGTG ATAATGATGGTAGTGGTGGTGGTGATGATGGTGATGATGATTATGATTGT GTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGGTGATGGA AATGATGATGATGTTAATTGTGGTGTTGATGATGGTAATGATAATGATTG TGATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTG ATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGTGAT AGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGATGG TGATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATCATG CTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02717.hp2 others(3): Show HG02451.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02970.hp2 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0030 a0001c0007 a0001c0030	a0001c0007t0001 a0001c0007t0002 a0001c0030t0001 a0001c0007t0001 a0001c0007t0002 a0001c0030t0001	a0001c0007t0001g0187 a0001c0007t0001g0240 a0001c0007t0002g0036 others(3): Show a0001c0007t0001g0187 a0001c0007t0001g0240 a0001c0007t0002g0036 a0001c0007t0002g0092 a0001c0007t0002g0276 a0001c0030t0001g0225	6	47	0.1277	482	c.33 others(493): Show c.3321_*3322insGTGATGATGGTGGTGGTGGTGATGGAAATGATGA TGATGTTAGTTGTGGTGTTGATGATGGTAATGATAATGATTGTGATGGTG GTGTTGGTGGTGGTGATAATGATGGTAGTGGTGGTGGTGATGATGGTGAT GATGATTATGATTGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGT GGTGGTGGTGATGGAAATGATGATGATGTTAATTGTGGTGTTGATGATGG TAATGATAATGATTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATAATG GTGGTGGTGGTGGTGATGGTGATGATGATTATGATGGTGGTGGTGGTGGT GGTGGTGCTGGTGATAGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGG TGGTGGTGATGATGGTGATGATGATTATGATGGTGGTGTTGGTGGTGCTG GTGATGATAATCATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2517		chr20	TogoVar
ARHGAP40_chr20_38596809_38655653	38653169	G G	GGTGGTGA others(475): Show GGTGGTGATGATGGTGGTGGTGGTGATGGAAATGATGATGATGTTAGTTG TGGTGTTGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTG GTGATAATGATGGTAGTGGTGGTGGTGATGATGGTGATGATGATTATGAT GGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGGTGAT GGAAATGATGATGATGTTAATTGTGGTGTTGATGATGGTAATGATAATGA TTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTG GTGATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGCTGGTGAT AGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGATGG TGATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATCATG CTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	42	0.0238	482	c.33 others(493): Show c.3321_*3322insGTGGTGATGATGGTGGTGGTGGTGATGGAAATGA TGATGATGTTAGTTGTGGTGTTGATGATGGTAATGATAATGATTGTGATG GTGGTGTTGGTGGTGGTGATAATGATGGTAGTGGTGGTGGTGATGATGGT GATGATGATTATGATGGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGT GGTGGTGGTGGTGATGGAAATGATGATGATGTTAATTGTGGTGTTGATGA TGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATA ATGGTGGTGGTGGTGGTGATGGTGATGATGATTATGATGGTGGTGGTGGT GGTGGTGCTGGTGATAGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGG TGGTGGTGATGATGGTGATGATGATTATGATGGTGGTGTTGGTGGTGCTG GTGATGATAATCATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2517		chr20	TogoVar
ARHGAP40_chr20_38596809_38655653	38653188	G G	GTGGTGAT others(475): Show GTGGTGATGGAAATGATGATGATGTTAGTTGTGGTGTTGATGATGGTAAT GATAATGATTGTGATGGTGGTGTTGGTGGTGGTGATAATGATGGTAGTGG TGGTGGTGATGATGGTGATGATGATTATGATGGTGTGTTGGTGGTGCTGG TGATGATAATGGTGGTGGTGGTGGTGGTGATGGAAATGATGATGATGTTA ATTGTGGTGTTGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGT GGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGATGGTGATGATGATTA TGATGGTGGTGGTGGTGGTGGTGGTGCTGGTGATAGTGGTGGTGGTGGTG CTGGTGATGATAATGGTGGTGGTGGTGATGATGGTGATGATGATTATGAT GGTGGTGTTGGTGGTGCTGGTGATGATAATCATGCTGGTGGTGGTGGCGT TGATGATGGTGACAGTAGTGATGATGGTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02896.hp2 HG03209.hp2 others(1): Show HG01109.hp1 HG02896.hp2 HG03209.hp2 HG03579.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0010 a0005c0010t0012 a0005c0010t0010 a0005c0010t0012	a0005c0010t0010g0224 a0005c0010t0010g0303 a0005c0010t0012g0128 others(1): Show a0005c0010t0010g0224 a0005c0010t0010g0303 a0005c0010t0012g0128 a0005c0010t0012g0223	4	348	0.0115	482	c.33 others(493): Show c.3340_*3341insTGGTGATGGAAATGATGATGATGTTAGTTGTGGT GTTGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGGTGA TAATGATGGTAGTGGTGGTGGTGATGATGGTGATGATGATTATGATGGTG TGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGGTGATGGAA ATGATGATGATGTTAATTGTGGTGTTGATGATGGTAATGATAATGATTGT GATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGA TGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGTGATA GTGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGATGGT GATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATCATGC TGGTGGTGGTGGCGTTGATGATGGTGACAGTAGTGATGATGGTGGTGA	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2536		chr20	TogoVar
ARHGEF10_chr8_1818926_1963641	1849893	T T	TGTGGACA others(475): Show TGTGGACACAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACA CAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGG GCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAAT GCTGAGGAGGGCATGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAG GAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGT GTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGC CGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTG CATGGACACAGAGGGCAAATGCTGAGGAGGGCATGGGCCGGCTGCGTGGA CACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGA GGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0194 a0001c0019t0001g0195 a0001c0019t0001g0194 a0001c0019t0001g0195	2	316	0.0063	482	c.37+ others(497): Show c.37+6467_37+6468insGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAG AGGGCAAATGCTGAGGAGGGCATGGGCCGGCTGCGTGGACACAGAGGGCA AATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCT GAGGAGGGTGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTG GGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCATGGGCCGG CTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGT GGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACAC AG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(475): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT TTATATATATATACTATATATAGTATATATATACTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATACTATAT ATATAGTTTATATATATACTATATATATAGTTTATATATATATACTATAT ATATAGTATATATATATATACTATATATATAGTATATATATATATAAACT ATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATA TATACTATATATATAGTTTATATATATATATATACTATATATATAGTTTA TATATATATATACTATATATATAGTTTATATATATATATACTATATATAT AGTTTATATATATATATACTATATATATAGTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	164	0.0061	482	c.331 others(501): Show c.3314-1170_3314-1169insAAACTATATATATAGTATATATATAT ATAAACTATATATATAGTATATATATATATAAACTATATATATAGTATAT ATATATATAAACTATATATATAGTATATATATATATATAAACTATATATA TAGTATATATATATATAAACTATATATATAGTTTATATATATATAAACTA TATATATAGTTTATATATATATATACTATATATATAGTATATATATATAT ACTATATATATAGTATATATATATAAACTATATATATAGTATATATATAA ACTATATATATAGTATATATATAAACTATATATATAGTATATATATATAA ACTATATATATAGTATATATATAGTATATATATACTATATATAGTATATA TATATAAACTATATATAGTATATATATATAAACTATATATATAGTATATA TAAACTATATATATAGTATATATATATAAACTATATATATATAAACTATA TATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421137	G G	GTTTATAT others(475): Show GTTTATATATATATAGTTTATATATATATACTATATATATAGTTTATATA TACTATATATATAGTTTATATATATATACTATATATAGTTTATATATATA TACTATATATAGTATATATATACTATATATATACTATATATATAGTTTAT ATATATATACTATATATATAGTTTATATATATATACTATATATATAGTTT ATATATATATATACTATATATATAGTATATATATATAAACTATATATATA GTATATATATATATAAACTATATATATAGTTTATATATATATACTATATA TATAGTTTATATATATATATACTATATATATAGTTTATATATATATATAC TATATATATAGTTTATATATATATATACTATATATATAGTTTATATATAT ATATACTATATATATAGTTTATATATATATATACTATATATATAGTTTAT ATATATATATATATATACTATATATATAGTTTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	87	0.0115	482	c.331 others(501): Show c.3314-1171_3314-1170insTAAACTATATATATAGTATATATATA TATATATATAAACTATATATATAGTATATATATATATAAACTATATATAT AGTATATATATATATAAACTATATATATAGTATATATATATATAAACTAT ATATATAGTATATATATATATAAACTATATATATAGTATATATATATATA AACTATATATATAGTATATATATATAAACTATATATATAGTTTATATATA TATATACTATATATATAGTTTATATATATATACTATATATATAGTATATA TATATATAAACTATATATATAGTATATATATATAAACTATATATATAGTA TATATATATAAACTATATATATAGTATATATATAGTATATATATACTATA TATAGTATATATATATAAACTATATATAGTATATATATATAAACTATATA TATAGTATATATAAACTATATATATAGTATATATATATAAACTATATATA TATAAA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
B4GALNT4_chr11_364499_387117	375125	A A	AAGGGAGG others(475): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	150	0.0067	482	c.784 others(497): Show c.784-295_784-294insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAG GGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMP7_chr20_57163753_57271641	57218873	G G	GTGGTAGC others(475): Show GTGGTAGCTGGTGTTTGGTGGTAGCTGGTGTTTGGTGGTAGCTGGTGTTT GTTTGGTGGTAGCTGGTGTTTGGTGGTCGCTGGTGTTTCTTTGGTGGTAG CTGGTGTGTGTTCGGTGGTAGCTGGTGTGTGTTCGCTGGTAGCTGGTGTT CGGAGGTAGCTGGTGTTTGGTGGTAGCTGGTGTTTTGTAGTAGTAGCTGG TGTTTGGTAGTAGCTGGTGTTTGGTGGTAGCTGGTGTTTGTTCAGTGGTA GCTGGTGTTTGTTCAGTGGTAGCTGGTGTTTGTTCGGTGGTAGCTGGTGT TTGTTCAGTGATAGCTGGTGTTTGGTGGTAGCTGGGTTTGTTTGGTGGTA GCTGGTGTTTGTTCGGTGGTAGCTGGCATTTGTTCGGTGGTAGCTGGTGT TTGTTTGGTGGTAGCTGGTGTTTGGTGGTGCTGGTGTTTGGTGGTAGCTG GTGTGTGTTCGGTGGTAGCTGGTATGTGTTTGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03017.hp1 HG02258.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0227 a0001c0001t0001g0108 a0001c0001t0001g0227	2	270	0.0074	482	c.611 others(499): Show c.611+9355_611+9356insGCAAACACATACCAGCTACCACCGAACA CACACCAGCTACCACCAAACACCAGCACCACCAAACACCAGCTACCACCA AACAAACACCAGCTACCACCGAACAAATGCCAGCTACCACCGAACAAACA CCAGCTACCACCAAACAAACCCAGCTACCACCAAACACCAGCTATCACTG AACAAACACCAGCTACCACCGAACAAACACCAGCTACCACTGAACAAACA CCAGCTACCACTGAACAAACACCAGCTACCACCAAACACCAGCTACTACC AAACACCAGCTACTACTACAAAACACCAGCTACCACCAAACACCAGCTAC CTCCGAACACCAGCTACCAGCGAACACACACCAGCTACCACCGAACACAC ACCAGCTACCACCAAAGAAACACCAGCGACCACCAAACACCAGCTACCAC CAAACAAACACCAGCTACCACCAAACACCAGCTACCACCAAACACCAGCT ACCA	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(475): Show GTCCTGGGGGTCTGTCCACCGTCACTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGT CCACCGTCTCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGC TGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCC TGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCC ACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGCCCGGATCCTGGGGATCTGTCCACTGCCCCTGCTGGGCCCGGATCCTT GGGGATCTGTCCACCGCCCCTGCTGGGCACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0073 a0003c0005t0073	a0003c0005t0073g0175 a0003c0005t0073g0175	1	237	0.0042	482	c.-17 others(493): Show c.-1799_-1798insTCCGTGCCCAGCAGGGGCGGTGGACAGATCCCCA AGGATCCGGGCCCAGCAGGGGCAGTGGACAGATCCCCAGGATCCGGGCCC AGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTG GACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAG GATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAG CAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGAGACGGTGGA CAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGTGCCCAGCAGTGACGGTGGACAGACCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1186057	G G	GGTCAGCG others(475): Show GGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGTCAGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATG GGGCGGGTGAGTAGACGGTCAGCGTGCATAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGG TGTGTACGGGGCAGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02717.hp1 others(1): Show HG01884.hp1 HG02055.hp2 HG02717.hp1 HG03540.hp1	a0002 a0003 a0039 a0002 a0003 a0039	a0002c0002 a0002c0063 a0003c0028 others(1): Show a0002c0002 a0002c0063 a0003c0028 a0039c0074	a0002c0002t0001 a0002c0063t0001 a0003c0028t0004 others(1): Show a0002c0002t0001 a0002c0063t0001 a0003c0028t0004 a0039c0074t0001	a0002c0002t0001g0284 a0002c0063t0001g0287 a0003c0028t0004g0027 others(1): Show a0002c0002t0001g0284 a0002c0063t0001g0287 a0003c0028t0004g0027 a0039c0074t0001g0283	4	301	0.0133	482	c.300 others(499): Show c.300-8914_300-8913insTCAGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCAGGTGAGTAGACGGTCAGCGTGCATAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCAGCGTGCATA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTG CATAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTA GGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(475): Show ATATATATAATTATATATATAATTATATATATATAATTATATATATATAA TTATATATTTTTATATATATAATTATATATATAATTTTATATATATATAA TTATATATAATTATATATATATAATTATATATATTATATATATAATTATA TATATATATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATAATTATATATATATAAAATTATATATATAATTTTATATAT AAAATTATATATATAATTTTATATATATAATTATATATATAATTTTATAT ATAAAATTATATATATAATTTTATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATATAATTTTATATATATAATTATATATATAT AATTTTATATATATAATTATATATATAATTTTATATATATATAATTATAT ATAATTTTATATATATATAATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0267 a0002c0002t0002g0267	1	259	0.0039	482	c.907 others(497): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATAATTATATATATAAA ATTATATATATATAATTATATATATAAAATTATATATATATAATTATATA TATATAAAATTATATATATAATTATATATATAAAATTATATATATAATTT TATATATAAAATTATATATATAATTATATATATAAAATTATATATATAAT TTTATATATAAAATTATATATATAATTTTATATATATATAATTATATATA TAAAATTATATATATAATTATATATATATAAAATTATATATATAATATAT ATATATAATTATATATATAATATATATAATTATATATATATAATTATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAAATATA TAATTATATATATATAATTATATATATATAATTATATATATAATTATATA TA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44182119	A A	ACTCACAC others(475): Show ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACTCACATACAGACAACCACACCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACACTCACATACAGACACAACCACACCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACTCACATACAGACACAACCA CACCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	253	0.0040	482	c.193 others(499): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACTCACATACAGACAACCACACC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACACACTCACATACAGA CACAACCACACCACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACTCACATACAGACACAACCACACCACACTC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACACTCACATACAGACACAACCA CACC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182119	A A	ACTCACAC others(475): Show ACTCACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACTCACATACAGACACAACCACACCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACTCACATACAGACACAACCA CACCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	253	0.0040	482	c.193 others(499): Show c.1938+800_1938+801insTCACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACACTCACATACAGACACAACCACACC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACACTCACATACAGACA CAACCACACCACACACACACATACACACTCACATACAGACACAACCACAC CACACTCACACACACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACACTCACATACAGACACAACCA CACC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182119	A A	ACTCACAC others(475): Show ACTCACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACACTCACATACAGACACAACCACACCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACACACACTCACATACAGACACAACCACACCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACTCACATACAGACACAACCA CACCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	253	0.0040	482	c.193 others(499): Show c.1938+800_1938+801insTCACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACACTCACATACAGACACAACCACACCAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACACTCACATACAGACA CAACCACACCACACACACACATACACACTCACATACAGACACAACCACAC CACACTCACACACACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACACTCACATACAGACACAACCA CACC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(475): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCC TCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCC CCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCC TCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCC CTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCAC CCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTCC GCCCCTCACCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCC TCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCC CTCCACCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	241	0.0041	482	c.326 others(499): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGGTGA GGGGCGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGC GGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGG GTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGG GCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGG GGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGG GCCGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAG GGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAG GGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(475): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCC TCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCC CCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCC TCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCC CTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCAC CCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTGC GCCCCTCACCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCC TCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCC CTCCACCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(28): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00544.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01169.hp1 HG01257.hp2 HG01515.hp1 HG01517.hp1 HG02165.hp2 HG02486.hp1 HG03669.hp1 HG06807.hp1 NA18939.hp1 NA18944.hp1 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18971.hp2 NA18982.hp1 NA18984.hp2 NA19043.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0024 a0001c0027 a0001c0037 a0001c0063	a0001c0001t0001 a0001c0002t0014 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0014 a0001c0003t0001 a0001c0003t0012 a0001c0024t0001 a0001c0027t0001 a0001c0037t0001 a0001c0063t0009	a0001c0001t0001g0124 a0001c0001t0001g0146 a0001c0001t0001g0175 others(28): Show a0001c0001t0001g0124 a0001c0001t0001g0146 a0001c0001t0001g0175 a0001c0001t0001g0200 a0001c0002t0014g0035 a0001c0003t0001g0016 a0001c0003t0001g0044 a0001c0003t0001g0047 a0001c0003t0001g0053 a0001c0003t0001g0072 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0090 a0001c0003t0001g0104 a0001c0003t0001g0141 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0167 a0001c0003t0001g0199 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0223 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0247 a0001c0003t0001g0274 a0001c0003t0012g0261 a0001c0024t0001g0207 a0001c0027t0001g0201 a0001c0037t0001g0271 a0001c0063t0009g0231	31	271	0.1144	482	c.326 others(499): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGGTGA GGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGC GGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGG GTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGG GCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGG GGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGG GCCGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAG GGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAG GGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(475): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCC TCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCC CCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCC TCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCTCACCCTCCGCCT CTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCAC CCTCCGCCCCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTGC GCCCCTCACCCCTCCGCCTCTCACCCCTCCGCCCCCCACCCCTCCGCCCC TCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCC CTCCACCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	241	0.0041	482	c.326 others(499): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGAGGCGGAGGGGTGA GGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGGGGC GGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGG GTGAGAGGCGGAGGGTGAGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGG GCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGG GGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGG GCCGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAG GGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAG GGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(475): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGTCCCTCCGCCCCCACCCCTCCGCCCCCCACCCC TCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCC CCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCC TCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCC CTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCAC CCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTGC GCCCCTCACCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCC TCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCC CTCCACCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	241	0.0041	482	c.326 others(499): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGGTGA GGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGC GGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGG GTGAGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGGGG GCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGG GGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGG GCCGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGACGAGGGGCGGAG GGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAG GGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(475): Show GCACACATGCACACACACATGCATACATATACACATGCACACAATGTACA CACATGCACGCACACATGCACACACACATGCATACATATACACATGCACA CAATGTACACACATGCACGCACACATGCACACACACATGCATACATATAC ACATGCACACAATGTACACACATGCACGCACACATGCACACACACATGCA TACATATACACATGCACACAATGTACACACATGCACGCACACATGCACAC ACACATGCATACATATACACATGCACACAATGTACACACATGCACGCACA CATGCACACACACATGCATACATATACACATGCACACAATGTACACACAT GCACGCACACATGCACACACACATGCATACATATACACATGCACACAATG TACACATGCACGCACACATGCACACACACATGCATACATATACACATGCA CACAATGTACACACATGCACGCACACATGCACA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0151 a0001c0001t0027g0151	1	187	0.0053	482	c.380 others(499): Show c.380-1970_380-1969insTGTGCATGTGTGCGTGCATGTGTGTACA TTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCAT GTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTG CGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGT GCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCA TGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTAT ATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTG CATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTA CATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGC ATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATG TGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCGCCA others(475): Show ACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTC ACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCA CAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGTCCCC TCACCTGCCACGGCCCACCTTCCTGCCCCCTCG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0007 a0001c0014t0007	a0001c0014t0007g0003 a0001c0014t0007g0003	1	229	0.0044	482	c.411 others(499): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTG GGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGG AAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGG TGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATG GGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGG CGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDH8_chr16_61642250_62041438	61960228	C C	CATACATA others(475): Show CATACATATATACATATGTGTGTATACACATACATATATACATATGTGTG TGTGTATACACATACATATATACATATGTGTGTGTGTATGCACATACATA TATACATATGTGTGTGTGTATGCACATACATATATACATATGTGTGTATA CACACATATATACATATGTGTGTATACACATACATATATACATATGTGTG TGTATACACACATATATACATATGTGTGTGTATACACACACACATATGTA TATATGTATGTGTATACACACACATATATGTATATATGTATGTGCATACA CACACACACATGTATATATGTATGTGTATACACATACATATATACATATG TGTGTGTATACACATACATATATACATGTGTGTGTGTGTATGCACATACA CATATACATATATGTGTGTGTATACACATACATATATACATATGTGTGTA TACACACATATATACATATGTGTGTATACACAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0067 a0001c0001t0042g0067	1	63	0.0159	482	c.253 others(501): Show c.253-58756_253-58755insATGTGTATACACACATATGTATATAT GTGTGTATACACACATATGTATATATGTATGTGTATACACACACATATAT GTATATGTGTATGTGCATACACACACACACATGTATATATGTATGTGTAT ACACACACATATGTATATATGTATGTGTATACACATACATATATACATGT GTGTGTGTGTATGCACATACATATATACATATATGTGTGTGTATACACAT ACATATATACATATGTGTGTGTGTATACACACACATATGTATATATGTGT GTATACACACACATATGTATATATGTATGTGTATACACACATATGTATAT ATGTGTGTATACACACATATGTATATATGTATGTGCATACACACACACAT ATGTATATATGTATGTGCATACACACACACATATGTATATATGTATGTGT ATACACACACACATATGTATATATGTATGTGTATACACACATATGTATAT ATGTAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(475): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCT CCCCACTCCCCACTCCCTCCCTCTTCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG04184.hp2 HG00140.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0104 a0001c0002t0001g0119 a0001c0001t0001g0104 a0001c0002t0001g0119	2	3	0.6667	482	c.75- others(499): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTC TCTCCCCACTCTCTCCCTCTCCCCACTCCCCACTCCCTCCCTCTTCCCCC CCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CEP70_chr3_138489344_138599260	138544225	A A	AAAAAAAA others(475): Show AAAAAAAAAGCAAAAAATTAAAACAACCAAAAAAGAAGAAAATCACTTGA CCACAAAGGAAGACAGTAAAAAGGGAAGAAAACACAATGAGATATCATCT CACTCCAGTTAGAATGGCTATTACTCAAAAGACAAAAAAAAAAAAGTACT GGTGAGGATATAGAGAAAGAGGAATCCTGGTACACTATAGGTGGGAATGA AAACTAGTACAACTACTATGGAAAACAGTATGGAGGTTCCTCAAAAAACT ATTTAAAGTAACCTGTTGTCCAGGCACAGGCTCATGCCTGTAATCTCCAC ACTTTCGGAGGCTAAAGCAGGAGAATTGCTTGAGGCCAGGAGTTCAAGAC CAACCTGGCCGACACAGTGAAATCCCCATCTCTTTTAAAAATTCCTTAAC TTAAAAAATAACTTGTTATATCTATAAAATGTTTTTTTGTAAATCTCATG GTAACTACAAAGCAAAAATAAAACAGGTACACT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG06807.hp2 HG03453.hp1 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0006 a0001c0004 a0004c0006	a0001c0004t0006 a0004c0006t0005 a0001c0004t0006 a0004c0006t0005	a0001c0004t0006g0031 a0004c0006t0005g0027 a0001c0004t0006g0031 a0004c0006t0005g0027	2	316	0.0063	482	c.466 others(499): Show c.466-6879_466-6878insAGTGTACCTGTTTTATTTTTGCTTTGTA GTTACCATGAGATTTACAAAAAAACATTTTATAGATATAACAAGTTATTT TTTAAGTTAAGGAATTTTTAAAAGAGATGGGGATTTCACTGTGTCGGCCA GGTTGGTCTTGAACTCCTGGCCTCAAGCAATTCTCCTGCTTTAGCCTCCG AAAGTGTGGAGATTACAGGCATGAGCCTGTGCCTGGACAACAGGTTACTT TAAATAGTTTTTTGAGGAACCTCCATACTGTTTTCCATAGTAGTTGTACT AGTTTTCATTCCCACCTATAGTGTACCAGGATTCCTCTTTCTCTATATCC TCACCAGTACTTTTTTTTTTTTGTCTTTTGAGTAATAGCCATTCTAACTG GAGTGAGATGATATCTCATTGTGTTTTCTTCCCTTTTTACTGTCTTCCTT TGTGGTCAAGTGATTTTCTTCTTTTTTGGTTGTTTTAATTTTTTGCTTTT TTTT	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	6/17			chr3	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(475): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCTTCCCTCCCCCCTTCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCC TCCTCCCTTCCCCCTTCCCCCTCCTCCCTTCCCCCTTCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	8	0.1250	482	c.69 others(493): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCC TTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCTCCTCCCTTCCCCC TTCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20357633	C C	CTGAGGGG others(475): Show CTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACAC TGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCATAGTGTGAGGGGAGGTGGTCATAGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0131 a0007c0010t0003g0131	1	232	0.0043	482	c.351 others(501): Show c.3514-2569_3514-2568insGGTGGTCATAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAG GGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGG GGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ATAGTGTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCATAGTGTG AGGGGA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(475): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTAATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTA TTTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	92	0.0109	482	c.80- others(497): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTAATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAA TA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(475): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTA TTTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	92	0.0109	482	c.80- others(497): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAA TA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(475): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTA TTTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00621.hp2 others(21): Show HG00323.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01071.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG01516.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02572.hp1 HG03669.hp2 HG03710.hp2 HG04184.hp1 NA18612.hp1 NA18943.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 others(15): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0022g0111	24	115	0.2087	482	c.80- others(497): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAA TA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(475): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATTTATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTA TTTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	92	0.0109	482	c.80- others(497): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATTTATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAA TA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(475): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAAATATAAAATAAATATTTATTTAATATATAAAATAAATA TTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATT TATTTAATATATAAAATAAATATTTATTTTAATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	92	0.0109	482	c.80- others(497): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAAATATAAAATAAATATTTATTTAATATATAAAATAAATATTTA TTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTATT TAATATATAAAATAAATATTTATTTTAATATAAAATAAATATTTATTTTA ATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTATTT ATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAA TA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(475): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0210 a0001c0001t0027g0210	1	92	0.0109	482	c.80- others(497): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTTTTAATATATAAAATAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTATTT ATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAA TA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(475): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCC CTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCT CCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCC CCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0046 a0001c0005t0046	a0001c0005t0046g0188 a0001c0005t0046g0188	1	2	0.5000	482	c.162 others(503): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCC TTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(475): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCC CTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCT CCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCC CCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0022 a0005c0009t0022	a0005c0009t0022g0185 a0005c0009t0022g0185	1	2	0.5000	482	c.162 others(503): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCC TTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(475): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCC CTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCT CCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCC CCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0057 a0001c0001t0039g0057	1	2	0.5000	482	c.162 others(503): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCC TCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCC TTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(475): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCC CTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCT CCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCC CCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0032 a0001c0001t0104g0032	1	2	0.5000	482	c.162 others(503): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCC TCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCC TTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(475): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCC CTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCT CCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCC CCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0043 a0001c0001t0095g0043	1	2	0.5000	482	c.162 others(503): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCC TCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCC TTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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