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
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(173): Show GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00140.hp2 HG00323.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0013 a0002c0004 a0004c0013	a0002c0004t0001 a0004c0013t0003 a0002c0004t0001 a0004c0013t0003	a0002c0004t0001g0151 a0004c0013t0003g0168 a0002c0004t0001g0151 a0004c0013t0003g0168	2	288	0.0069	180	c.303 others(199): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTC TCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882475	G G	GGGGGAGA others(173): Show GGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0163 a0001c0003t0003g0163	1	288	0.0035	180	c.303 others(199): Show c.303+23646_303+23647insGGCTTTCCTTTCCTTCTCCCCGGCTT TCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCN4_chr8_133186039_133236690	133213991	T T	TATACTAT others(173): Show TATACTATATATACACTATATATAGTAGTTATATATACTATATATACACT ATATATAGTTATATATACTATATATAACTATATATAGTAGTTATATATAG TATATATAACTATATATAGTATATATACACTATATATAGTAGTTATACAT ACTATATATACACTATATATAGTAGTTATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01358.hp1 HG02602.hp1 others(2): Show HG00741.hp1 HG01358.hp1 HG02602.hp1 NA18978.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0001t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0286 a0001c0002t0003g0169 a0001c0002t0003g0194 others(2): Show a0001c0001t0001g0286 a0001c0002t0003g0169 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0004g0082	5	396	0.0126	180	c.349 others(195): Show c.349+880_349+881insTATACTATATATACACTATATATAGTTATA TATACTATATATAACTATATATAGTAGTTATATATAGTATATATAACTAT ATATAGTATATATACACTATATATAGTAGTTATACATACTATATATACAC TATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133213991	T T	TATACTAT others(173): Show TATACTATATATACACTATATATAGTTATATATACTATATATAACTATAT ATAGTAGTTATATATAGTATATATAACTATATATAGTATATATACACTAT ATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTATACAT ACTATATATACACTATATATAGTAGTTATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp2 HG00738.hp2 others(3): Show HG00423.hp2 HG00735.hp2 HG00738.hp2 HG01175.hp2 HG01361.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0032 a0001c0001t0002 a0001c0002t0003 a0001c0002t0032	a0001c0001t0002g0338 a0001c0002t0003g0033 a0001c0002t0003g0048 others(3): Show a0001c0001t0002g0338 a0001c0002t0003g0033 a0001c0002t0003g0048 a0001c0002t0003g0191 a0001c0002t0003g0367 a0001c0002t0032g0202	6	396	0.0152	180	c.349 others(195): Show c.349+873_349+874insTATATATACTATATATAACTATATATAGTA GTTATATATAGTATATATAACTATATATAGTATATATACACTATATATAG TAGTTATACATACTATATATACACTATATATAGTAGTTATACATACTATA TATACACTATATATAGTAGTTATACATACTATATATACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCR9_chr3_45881543_45908174	45890308	T T	TATATATT others(173): Show TATATATTTATATAAATATATATATAACATATATATATTTATATAAATAT ATATATAACATATATATATTTATATAAATATATATATAACATATATATAT TTATATAAATATATATATAACATATATATTTATATAAATATATATATGTT ATATATATATTTATATAAATATATATATAAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	424	0.0024	180	c.-29 others(197): Show c.-29+3659_-29+3660insTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATAACATATATATATTTATATAAATATATATATAACATATATATTTATAT AAATATATATATGTTATATATATATTTATATAAATATATATATAACATAT AT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AATATATA others(173): Show AATATATATATATATATATATATATATATATATATACTCATATATATATA TATACTCATATATATATATATACTCATATATATATATATTCATATATATA TACTCATATATATATATATACTCATATATATATATATTCATATATATATA TATATATTCATATATATATATATATATATTC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	370	0.0027	180	c.232 others(201): Show c.2326-11590_2326-11589insTATATATATACTCATATATATATA TATACTCATATATATATATATACTCATATATATATATATTCATATATATA TACTCATATATATATATATACTCATATATATATATATTCATATATATATA TATATATTCATATATATATATATATATATTCATATATATATATATATATA TATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(173): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0256 a0002c0003t0006g0256	1	424	0.0024	180	c.774 others(195): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDC42BPB_chr14_102927380_103062549	103030539	T T	TACAAAAA others(173): Show TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0031 a0001c0022t0031	a0001c0022t0031g0177 a0001c0022t0031g0177	1	320	0.0031	180	c.176 others(199): Show c.176-18352_176-18351insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGT	CDC42BPB	ENSG00000198752.11	transcript	ENST00000361246.7	protein_coding	1/36			chr14	TogoVar
CDH8_chr16_61642250_62041438	61960089	G G	GTGCGTGC others(173): Show GTGCGTGCGTACACATACATACATACATATATGTGCGTGCGTACACATAC ATACATACATATGTGCGTGCGTACACATACATATATACATATGTGCGTGC GTACACATACATATATACATATGTGCGTGCGTACACATACATATATACAT ATGTGTGTGCGTACACATACATATATACATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0154 a0001c0001t0059g0154	1	168	0.0060	180	c.253 others(199): Show c.253-58617_253-58616insTATGTATATATGTATGTGTACGCACA CACATATGTATATATGTATGTGTACGCACGCACATATGTATATATGTATG TGTACGCACGCACATATGTATATATGTATGTGTACGCACGCACATATGTA TGTATGTATGTGTACGCACGCACATATATGTATGTATGTATGTGTACGCA CGCA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960099	A A	ACACATAC others(173): Show ACACATACATACATACATATATGTGCGTGCGTACACATACATACATACAT ATGTGCGTGCGTACACATACATATATACATATGTGCGTGCGTACACATAC ATATATACATATGTGCGTGCGTACACATACATATATACATATGTGCGTGC GTACACATACATATATACATATGTGCGTGCG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0126 a0001c0001t0013g0126	1	168	0.0060	180	c.253 others(199): Show c.253-58627_253-58626insCGCACGCACATATGTATATATGTATG TGTACGCACGCACATATGTATATATGTATGTGTACGCACGCACATATGTA TATATGTATGTGTACGCACGCACATATGTATATATGTATGTGTACGCACG CACATATGTATGTATGTATGTGTACGCACGCACATATATGTATGTATGTA TGTG	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CEMIP2_chr9_71678366_71773513	71752481	G G	GGGGAGGG others(173): Show GGGGAGGGTAGGGGGGAGGAGAGGGGGAGGGAGGGGAGGGAGGGGGAGGG GAGGGGAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGGAGAGAGG AGAGAAGGAAGTAAGGAAGTTAGGAGGGAAGGAGGAAGGAAGGAGGGAAG GGGAGGAAGGAGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	320	0.0031	180	c.-12 others(197): Show c.-12-2097_-12-2096insTTCCTTGCTTCCTTCCCTCCTCCTTCCT CCCCTTCCCTCCTTCCTTCCTCCTTCCCTCCTAACTTCCTTACTTCCTTC TCTCCTCTCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCTCCCCTCCCTCCCCCTCTCCTCCCCCCTACCCTC CC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTAGATAG others(173): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGACACATCTAGAT AGATATATAGACACATCTAGATAGATATATAGACACATCTAGATAGATAT ATAGACACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	440	0.0023	180	c.12 others(191): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTGTCTATATA TCTATCTAGATGTGTCTATATATCTATCTAGATGTGTCTATATATCTATC TAGATGTGTCTATATATCTATCTAGATGTATCTATATATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTAGATAG others(173): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGACACATCTAGATAGATATATAGACACATCTAGATAGATAT ATAGACACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	440	0.0023	180	c.12 others(191): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTGTCTATATA TCTATCTAGATGTGTCTATATATCTATCTAGATGTGTCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(173): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0263 a0001c0002t0001g0263	1	440	0.0023	180	c.12 others(191): Show c.1214_*1215insTATATAGATGTATCTATATATAGATGTATCTATA TATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATA TAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CERK_chr22_46679410_46743252	46680586	C C	CCATCCAC others(173): Show CCATCCACCCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCC ATCCATCCATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTAC CCACCCATCCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCC ATCCATCCATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01952.hp2 HG01981.hp2 HG00642.hp1 HG01952.hp2 HG01981.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0012 a0001c0004t0005 a0001c0004t0012	a0001c0004t0005g0105 a0001c0004t0005g0128 a0001c0004t0012g0218 a0001c0004t0005g0105 a0001c0004t0005g0128 a0001c0004t0012g0218	3	340	0.0088	180	c.65 others(191): Show c.6547_*6548insAATGGGTGGGTGGGTGGATGGATGGATGGATGGG TGGATGGATGGATGGACGGATGGATTGATGGATGGATGGATGGGTGGGTA GGTGGATGGATGGATGAATGGGTGGATGGGTGGGTGGATGGATGGATGGA AGGACGGATGGATGGATGAATGGGTGGGTGGGTGGGTGGGTGGATG	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3823		chr22	TogoVar
CERK_chr22_46679410_46743252	46680586	C C	CCATCCAC others(173): Show CCATCCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCCATCC ATCCATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTACCCAC CCATCCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCCATCC ATCCATCCATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18993.hp1 NA18993.hp2 NA18964.hp2 NA18993.hp1 NA18993.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0004 a0006c0015t0005 a0001c0001t0004 a0006c0015t0005	a0001c0001t0004g0152 a0006c0015t0005g0123 a0006c0015t0005g0136 a0001c0001t0004g0152 a0006c0015t0005g0123 a0006c0015t0005g0136	3	340	0.0088	180	c.65 others(191): Show c.6547_*6548insAATGGGTGGGTGGGTGGATGGATGGATGGATGGA TGGGTGGATGGATGGATGGACGGATGGATTGATGGATGGATGGATGGGTG GGTAGGTGGATGGATGGATGAATGGGTGGATGGGTGGGTGGATGGATGGA TGGAAGGACGGATGGATGGATGAATGGGTGGGTGGGTGGGTGGATG	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3823		chr22	TogoVar
CERK_chr22_46679410_46743252	46680586	C C	CCATCCAT others(173): Show CCATCCATCCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCC ATCCATCCATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTAC CCACCCATCCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCC ATCCATCCATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA18953.hp2 NA19240.hp2 HG03471.hp1 NA18953.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0034 a0001c0001 a0001c0010 a0001c0034	a0001c0001t0004 a0001c0010t0027 a0001c0034t0027 a0001c0001t0004 a0001c0010t0027 a0001c0034t0027	a0001c0001t0004g0137 a0001c0010t0027g0183 a0001c0034t0027g0207 a0001c0001t0004g0137 a0001c0010t0027g0183 a0001c0034t0027g0207	3	340	0.0088	180	c.65 others(191): Show c.6547_*6548insAATGGGTGGGTGGGTGGATGGATGGATGGATGGG TGGATGGATGGATGGACGGATGGATTGATGGATGGATGGATGGGTGGGTA GGTGGATGGATGGATGAATGGGTGGATGGGTGGGTGGATGGATGGATGGA AGGACGGATGGATGGATGAATGGGTGGGTGGGTGGGTGGATGGATG	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3823		chr22	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(173): Show TAATTTAAATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTAAATTTTT TGTTTAATTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0008 a0001c0002t0004g0008	1	336	0.0030	180	c.231 others(197): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTA ATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAA TT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(173): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTAAATGTTTAATTTA AATTAAACATTAAATTTTTTGTTTAATTTAAATTAAACATTTAAATTAAA TGTTTAATTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18941.hp2 NA18949.hp2 HG01884.hp2 NA18941.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0335 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0335	3	336	0.0089	180	c.231 others(197): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAATTTAATGTTTA ATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(173): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTAAATGTTTAATTTA AATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTAAATTTTT TGTTTAATTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01069.hp2 NA19065.hp1 HG00438.hp2 HG01069.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0002t0001g0078 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0002t0001g0078	3	336	0.0089	180	c.231 others(197): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTA ATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(173): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTAAATTTTTTGTTTAATTTAAATTAAACATTTAAATTAAA TGTTTAATTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	336	0.0030	180	c.231 others(197): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAATTTAATGTTTA ATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(173): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTAAATTTTT TGTTTAATTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp1 others(93): Show HG00099.hp1 HG00140.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01261.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 NA18522.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18964.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18988.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA19006.hp1 NA19009.hp1 NA19054.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0006t0006	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 others(93): Show a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0002g0005 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0239 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0269 a0001c0001t0003g0132 a0001c0001t0003g0192 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0246 a0001c0001t0006g0134 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0256 a0001c0001t0006g0308 a0001c0001t0007g0195 a0001c0001t0007g0224 a0001c0001t0007g0226 a0001c0001t0007g0228 a0001c0001t0010g0001 a0001c0001t0010g0002 a0001c0001t0010g0003 a0001c0001t0011g0230 a0001c0001t0012g0240 a0001c0001t0012g0241 a0001c0001t0013g0243 a0001c0001t0013g0258 a0001c0001t0014g0237 a0001c0001t0014g0238 a0001c0002t0001g0011 a0001c0002t0001g0248 a0001c0006t0006g0268	96	336	0.2857	180	c.231 others(197): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTA ATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CFAP299_chr4_80330730_80968750	80390588	T T	TATATGTA others(173): Show TATATGTATATATGTATACACACATATATGTATATATGTATATATGTATA CACACATATATGTATATATGTATATATGTATACACACATATATGTATATA TGTATATATGTATACACACATATATGTATATATGTATATATGTATACACA CATATGTATATATGTATATATGTATACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	96	0.0104	180	c.242 others(199): Show c.242+27730_242+27731insATGTATATATGTATATATGTATACAC ACATATATGTATATATGTATATATGTATACACACATATATGTATATATGT ATATATGTATACACACATATATGTATATATGTATATATGTATACACACAT ATGTATATATGTATATATGTATACACACATATGTATATATGTATACACAC ATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP46_chr10_132803392_132947570	132888467	A A	ACCCCTGC others(173): Show ACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCACCTTCACCCC TGCCACCTTCACCCCTGCCACCTGCACCCCTGCCGCCTTCACCCCTGCCA CCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCGCCTTCAC CCCTGCCGCCTTCACCCCTGCCACCTTCACC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0010 a0010	a0010c0072 a0010c0072	a0010c0072t0002 a0010c0072t0002	a0010c0072t0002g0004 a0010c0072t0002g0004	1	246	0.0041	180	c.330 others(199): Show c.3305-2509_3305-2508insGGTGAAGGTGGCAGGGGTGAAGGCGG CAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGT GCAGGTGGCAGGGGTGAAGGCGGCAGGGGTGCAGGTGGCAGGGGTGAAGG TGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCA GGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888510	A A	ACCCCTGC others(173): Show ACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCCCTGCCGCCTTCACCCC TGCCGCCTGCACCCCGCCGCCTTCACCCCTGCCGCCTGCACCCCGCCGCC TTCACCCCTGCCGCCTGCACCCCTGCCGCCTTCACCCCTGCCGCCTGCAC CCCTGCCGCCTTCACCCCTGCCGCCTGCACC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0007 a0012c0025t0002g0007	1	246	0.0041	180	c.330 others(199): Show c.3305-2552_3305-2551insGGTGCAGGCGGCAGGGGTGAAGGCGG CAGGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGG GTGAAGGCGGCGGGGTGCAGGCGGCAGGGGTGAAGGCGGCGGGGTGCAGG CGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGGGTGCAGGCGGCA GGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20296030	C C	CCTGCCTG others(173): Show CCTGCCTGCCTTCCTGCCTTCCTGCCTTCCTGCCTTCCCTTCCTCCCTCC CTCCCTACCTCCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTCCCTTCTT TACTTCCTTCCTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCTCCCTTCT TTCCTTTCTTCCTCCTGCCCTCCCTCCTTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19030.hp2 HG01109.hp1 NA19030.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0003 a0006c0011t0002 a0006c0011t0003	a0006c0011t0002g0117 a0006c0011t0003g0089 a0006c0011t0002g0117 a0006c0011t0003g0089	2	236	0.0085	180	c.321 others(199): Show c.3217-2151_3217-2150insCTGCCTGCCTTCCTGCCTTCCTGCCT TCCTGCCTTCCCTTCCTCCCTCCCTCCCTACCTCCCTCCCTCCTTCCTTC CCTTCCTCCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTT TCCTCCATCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCC TTCT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26			chr20	TogoVar
CFAP92_chr3_128904873_128999076	128955192	T T	TGGGGGGG others(173): Show TGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCTGCCCCATCCGCGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	342	0.0029	180	c.135 others(199): Show c.1354-9218_1354-9217insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGATGGGGCAGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCC CCCC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128955301	T T	TGCCCCAT others(173): Show TGCCCCATCCGCGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCTGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	342	0.0029	180	c.135 others(199): Show c.1354-9327_1354-9326insGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGATG GGGC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128955333	C C	CCCCCCGC others(173): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGCGAGGGAGGTGGGGGGGGTCAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01261.hp1 HG01175.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0186 a0001c0003t0001g0128 a0001c0001t0001g0186 a0001c0003t0001g0128	2	342	0.0059	180	c.135 others(199): Show c.1354-9359_1354-9358insCTGACCCCCCCCACCTCCCTCGCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(173): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGG GGAGGAGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAG GAGGGGAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGA GAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp1 HG02004.hp2 others(1): Show HG00741.hp2 HG01168.hp1 HG02004.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0338	4	384	0.0104	180	c.319 others(197): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCCTCTCC TCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCTCTCCTCTC CT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(173): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGG GGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAG GAGGGGAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGA GAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA21309.hp1 HG02109.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0161 a0001c0001t0001g0015 a0001c0001t0001g0161	2	384	0.0052	180	c.319 others(197): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCC TCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCTCTCCTCTC CT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(173): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGGAGGGGAGG GGAGGAGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGGGGAGAGGAGGG GAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGA GAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp1 HG01346.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0138 a0001c0001t0001g0043 a0001c0001t0001g0138	2	384	0.0052	180	c.319 others(197): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCC CTCCCCTCCTCTCCCCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCTCC TCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCCTCTCCTCTC CT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHL1_chr3_191763_414417	261929	C C	CAGATCTA others(173): Show CAGATCTACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACATAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0236 a0004c0004t0008g0236	1	290	0.0035	180	c.-95 others(199): Show c.-95+17253_-95+17254insTACAGGGCAGGATTCACACGTTTAAG CCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAG ATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTA CATAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAG TACT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262019	T T	TAGATCTA others(173): Show TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCCCAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	290	0.0035	180	c.-95 others(199): Show c.-95+17434_-95+17435insCCAGGGCAGGATTCACACGTTTAAGC CCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGA TCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTAC ACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGT ACTC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262441	C C	CACAGGGC others(173): Show CACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAG GGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAG GATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTC ACACGTTTAAGCCTAGATCTACACAGTACTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp1 HG03139.hp2 HG03471.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0004 a0004c0004t0049 a0002c0002t0004 a0004c0004t0049	a0002c0002t0004g0290 a0004c0004t0049g0012 a0002c0002t0004g0290 a0004c0004t0049g0012	2	290	0.0069	180	c.-95 others(199): Show c.-95+17776_-95+17777insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTTACAGGGCAGGATTCACACGTTTA AGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLEC10A_chr17_7069537_7085251	7077716	A A	ACCATCAA others(173): Show ACCATCAATCACTCCATCAGTGCCCTCTCCTCCATTCCCATCAATCACTC CATCAGTGCCCTCTCCTCCATTCCCATCAATCACTCCATCAGTGCCCTCT CCTCCATTCCCATCAATCACTCCATCAGTGCCCTCTCCTCCATTCCCATC AATCACTCCATCAGTGCCCTCTCCTCCATTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02717.hp2 HG03139.hp1 others(3): Show HG00323.hp2 HG02717.hp2 HG03139.hp1 NA19087.hp1 NA19088.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	6	458	0.0131	180	c.184 others(195): Show c.184+280_184+281insGAATGGAGGAGAGGGCACTGATGGAGTGAT TGATGGGAATGGAGGAGAGGGCACTGATGGAGTGATTGATGGGAATGGAG GAGAGGGCACTGATGGAGTGATTGATGGGAATGGAGGAGAGGGCACTGAT GGAGTGATTGATGGGAATGGAGGAGAGGGCACTGATGGAGTGATTGATGG	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding	3/8			chr17	TogoVar
CLN8_chr8_1758789_1791570	1785316	C C	CGGTTAGA others(173): Show CGGTTAGACAGGTACCGGTCAGATTACGGTGGCACAGGCGGCGTGGGGTT AGACAGGTACCGGTCAGTTTACGGTGGCACAGGCGGCGTGGGGTTAGACA GGTACCGGTCAGATTACGGTGGCACAGGCGGCGTGGGGTTAGACAGGTAC CGGTCAGATTACGGTGGCACAGGCGGCGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02895.hp2 others(3): Show HG02055.hp2 HG02257.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0057 a0001c0001t0065 a0001c0001t0014 a0001c0001t0057 a0001c0001t0065	a0001c0001t0014g0054 a0001c0001t0014g0160 a0001c0001t0014g0161 others(2): Show a0001c0001t0014g0054 a0001c0001t0014g0160 a0001c0001t0014g0161 a0001c0001t0057g0168 a0001c0001t0065g0167	6	413	0.0145	180	c.48 others(191): Show c.4815_*4816insTTTACGGTGGCACAGGCGGCGTGGGGTTAGACAG GTACCGGTCAGATTACGGTGGCACAGGCGGCGTGGGGTTAGACAGGTACC GGTCAGATTACGGTGGCACAGGCGGCGTGGGGTTAGACAGGTACCGGTCA GATTACGGTGGCACAGGCGGCGTGGGGTTAGACAGGTACCGGTCAG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding	3/3	4816	INFO_REALIGN_3_PRIME	chr8	TogoVar
CLN8_chr8_1758789_1791570	1785316	C C	CGGTTAGA others(173): Show CGGTTAGACAGGTACCGGTCAGATTATGGTGGCACAGGCGGCGTGGGGTT AGACAGGTACCGGTCAGTTTACGGTGGCACAGGCGGCGTGGGGTTAGACA GGTACCGGTCAGATTACGGTGGCACAGGCGGCGTGGGGTTAGACAGGTAC CGGTCAGATTACGGTGGCACAGGCGGCGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0171 a0001c0001t0067g0171	1	413	0.0024	180	c.47 others(191): Show c.4774_*4775insTGGTGGCACAGGCGGCGTGGGGTTAGACAGGTAC CGGTCAGTTTACGGTGGCACAGGCGGCGTGGGGTTAGACAGGTACCGGTC AGATTACGGTGGCACAGGCGGCGTGGGGTTAGACAGGTACCGGTCAGATT ACGGTGGCACAGGCGGCGTGGGGTTAGACAGGTACCGGTCAGATTA	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding	3/3	4775	INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136740	T T	TTTATATT others(173): Show TTTATATTATATTTATATTATATATAAATATATATATTTATATTATATAT AAATATATATATTTATATTATATATAAATATATATATTTATATTATATAT AAATATATATATTTATATATATATAAATATATATATTTATATTATATATA AATATATATATTTATATTATATATAAATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	152	0.0066	180	c.432 others(199): Show c.432-69252_432-69251insTATATTATATTTATATTATATATAAA TATATATATTTATATTATATATAAATATATATATTTATATTATATATAAA TATATATATTTATATTATATATAAATATATATATTTATATATATATAAAT ATATATATTTATATTATATATAAATATATATATTTATATTATATATAAAT ATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL17A1_chr10_104026286_104090880	104036094	G G	GTGTGTAT others(173): Show GTGTGTATGGGAGTGTGTGTATGGGAGTGTGTGTATGAGTGTGTGTGTAT GGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTTTATGGGAAT GCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAA GTGTGTGTATAGGAGTGTGTGTATGGGAGTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG01243.hp2 HG02109.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0009 a0006c0008t0003 a0006c0008t0009	a0006c0008t0003g0027 a0006c0008t0009g0298 a0006c0008t0003g0027 a0006c0008t0009g0298	2	336	0.0060	180	c.341 others(197): Show c.3418+397_3418+398insTACTCCCATACACACACTCCTATACACA CACTTCCATACTCAGACACACCCATACACACTCACATATGCATACACACA CGCATTCCCATAAACACTCCCATACTCCTGTACTCACACTCCCATACACT CCCATACACACACACTCATACACACACTCCCATACACACACTCCCATACA CA	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(173): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC GGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGG GGGGAGCGGGGCTGCGGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0018 a0018	a0018c0035 a0018c0035	a0018c0035t0040 a0018c0035t0040	a0018c0035t0040g0245 a0018c0035t0040g0245	1	290	0.0035	180	c.-11 others(195): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGCGGG GGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGG AAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL23A1_chr5_178232618_178595393	178525019	C C	CGGCTAAG others(173): Show CGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCC CAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGC GCGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATG GCGACACAGCGCGCAGACCCCGGGACCCGAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0156 a0003c0005t0003g0156	1	236	0.0042	180	c.361 others(199): Show c.361+35483_361+35662dupTTCGGGTCCCGGGGTCTGCGCGCTGT GTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCTGGGGTC TGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGG TCCTGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTT AGCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178547928	C C	CACCCACA others(173): Show CACCCACACCCACCCCCCACACACACCCACACACCTACACCCACATACCC ACACCCACCCCCCACACACACCCACACACCTACACCCACATACCCACACC CACCCCCCACACACACCCACACACCTACACCCACATACCCACACCCACCC CCCACACACACCCACACACCTACACCCACAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01952.hp2 HG01433.hp2 HG01952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0148 a0002c0003t0001g0004 a0001c0001t0002g0148 a0002c0003t0001g0004	2	236	0.0085	180	c.361 others(199): Show c.361+12753_361+12754insATGTGGGTGTAGGTGTGTGGGTGTGT GTGGGGGGTGGGTGTGGGTATGTGGGTGTAGGTGTGTGGGTGTGTGTGGG GGGTGGGTGTGGGTATGTGGGTGTAGGTGTGTGGGTGTGTGTGGGGGGTG GGTGTGGGTATGTGGGTGTAGGTGTGTGGGTGTGTGTGGGGGGTGGGTGT GGGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A2_chr13_110302284_110518209	110480932	G G	GTTGCTGG others(173): Show GTTGCTGGAGACACACAGTTCTGTCCTTCCATTGCTGGAGACACACTGTT CTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAG ACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCC GTTGCTGGAGACACACAGTTCTGTCCCTCCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02148.hp1 HG00544.hp1 HG02148.hp1	a0004 a0005 a0004 a0005	a0004c0009 a0005c0020 a0004c0009 a0005c0020	a0004c0009t0003 a0005c0020t0002 a0004c0009t0003 a0005c0020t0002	a0004c0009t0003g0055 a0005c0020t0002g0270 a0004c0009t0003g0055 a0005c0020t0002g0270	2	372	0.0054	180	c.275 others(197): Show c.2758+557_2758+558insAGTTCTGTCCTTCCATTGCTGGAGACAC ACTGTTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTG CTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCATTGCTGGAGACAC AC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481100	T T	TTCTGTCC others(173): Show TTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0066 a0002c0066	a0002c0066t0007 a0002c0066t0007	a0002c0066t0007g0181 a0002c0066t0007g0181	1	372	0.0027	180	c.275 others(197): Show c.2758+717_2758+718insCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACAC ACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134712166	T T	TCTTCTTC others(173): Show TCTTCTTCCTTTCCCCCCTCCTTCCTGCCCCCTTCTTCCTTTCCCCCCTC CTTCCTGCCCCCTTCTTCCTTTCCCCCCTCCTTCCTGCCCCCTTCTTCCT TTCCCCCCTCCTTCCTGCCCCCTTCTTCCTTTCCCCCCTCCTTCCTGCCC CCTTCTTCCTTTCCCCCCTCCTTCCTGCCCC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	272	0.0037	180	c.654 others(199): Show c.654+10900_654+10901insCTTTCCCCCCTCCTTCCTGCCCCCTT CTTCCTTTCCCCCCTCCTTCCTGCCCCCTTCTTCCTTTCCCCCCTCCTTC CTGCCCCCTTCTTCCTTTCCCCCCTCCTTCCTGCCCCCTTCTTCCTTTCC CCCCTCCTTCCTGCCCCCTTCTTCCTTTCCCCCCTCCTTCCTGCCCCCTT CTTC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A2_chr21_46093112_46134801	46134701	G G	GAGGGTGA others(173): Show GAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGA GGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGG GTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGT GAGGGTGAGGGTGAGGGTGAGGGTGAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0324 a0001c0002t0002g0324	1	372	0.0027	180	c.52 others(191): Show c.5210_*5211insAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGG TCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTC AGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAG GGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4901		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134701	G G	GAGGGTGA others(173): Show GAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGA GGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGG GTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGT GAGGGTGAGGGTGAGGGTGAGGGTGAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0321 a0001c0002t0002g0321	1	364	0.0028	180	c.21 others(191): Show c.2149_*2150insAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGG TCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTC AGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAG GGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1854		chr21	TogoVar
COLEC11_chr2_3590112_3649644	3592283	C C	CGGAGAGG others(173): Show CGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	378	0.0027	180	c.-29 others(191): Show c.-2912_-2911insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2828		chr2	TogoVar
COMMD10_chr5_116080025_116298287	116129424	A A	ATATATAT others(173): Show ATATATATACTATATACTAATGTAATATACATTAGTATATATATACTATA TACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATAT ACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATAT ATACTATATACTAATGTAATATACATTAGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0197 a0001c0001t0004g0197	1	350	0.0029	180	c.400 others(197): Show c.400-4465_400-4464insGTATATATACTATATACTAATGTAATAT ACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATAT ATACTATATACTAATGTAATATACATTAGTATATATATACTATATACTAA TGTAATATACATTAGTATATATATACTATATACTAATGTAATATACATTA GT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar

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