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
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(194): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCCTTCCCCTCCCCCTCCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCTCCCCCTCCCCCTCCCC CT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	192	0.0052	201	c.102 others(218): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCCTTCCCCTCCCCCT CCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCTCCCCCTCC CCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(194): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	192	0.0052	201	c.102 others(218): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCC CCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(194): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCT CCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19240.hp2 HG01175.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0044 a0003c0003t0001g0222 a0003c0003t0001g0044 a0003c0003t0001g0222	2	73	0.0274	201	c.102 others(218): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(194): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCCCCCCTCC CCCTCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCCTCTCCCCCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CT	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA20805.hp1 HG01256.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0039 a0002c0002t0001g0041	2	73	0.0274	201	c.102 others(218): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCATCCCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCCCCTC CCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(194): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCA CCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCT CCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03225.hp2 HG02896.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0264 a0001c0001t0001g0034 a0001c0001t0001g0264	2	73	0.0274	201	c.102 others(218): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCACCTCCCCCTCCCGCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASCC1_chr10_72091032_72221276	72198308	A A	AGGGGAGG others(194): Show AGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGGAGGGGGA GGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGATGGGAGGGGGACGGGGAGGGGACGGGGAGG GGAGGGGAGATGGGAGGGGAGGGGAGGGGGAGGGGAGAGGAGGGGAGGGG AG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0164 a0006c0008t0002g0164	1	179	0.0056	201	c.311 others(218): Show c.311-1320_311-1319insCTCCCCTCCCCTCCTCTCCCCTCCCCCT CCCCTCCCCTCCCATCTCCCCTCCCCTCCCCGTCCCCTCCCCGTCCCCCT CCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCATCCCCCTC CCCTCCTCTTCCCTCCCCCTTCCCTCCCCCTCCCCCCTCCCGTCTGCCCT CCCCCATCTCCTTCCCCCTCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATP10B_chr5_160558120_160857211	160653831	C C	CAACATAA others(194): Show CAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTG TATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAAC ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACATATATAAATATATGTTGTATATACGTATATACAACAT AA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0016 a0001c0033t0016	a0001c0033t0016g0210 a0001c0033t0016g0210	1	227	0.0044	201	c.676 others(218): Show c.676-4576_676-4575insTTATGTTGTATATACGTATATACAACAT ATATTTATATATGTATATACGTATATACAACATATATTTATATATGTATA TACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATAT ATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATACG TATATACAACATATATTTATGTT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP13A3_chr3_194397677_194492002	194421151	A A	AGTTTATA others(194): Show AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATACTATATATATAGTTTATATATATACTATATATATAG TTTATATATATATACTATATATATAGTTTATATATATATACTATATATAT AG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	296	0.0034	201	c.331 others(220): Show c.3314-1185_3314-1184insCTATATATATAGTATATATATATAAA CTATATATATAGTATATATATATAAACTATATATATAGTATATATATAAA CTATATATATAGTATATATATAAACTATATATATAGTATATATATAAACT ATATATATAGTATATATATATAAACTATATATATAGTATATATATAAACT ATATATATAGTATATATATATAAAC	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
AXDND1_chr1_179360971_179559735	179429004	C C	CGTCTCTA others(194): Show CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCC GACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp2 HG01496.hp1 others(9): Show HG01106.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp1 HG02165.hp2 NA18943.hp2 NA18979.hp1 NA18989.hp2 NA19065.hp1 NA19079.hp1 NA20805.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0296 a0004c0005t0001g0297 a0004c0005t0001g0298 others(9): Show a0004c0005t0001g0296 a0004c0005t0001g0297 a0004c0005t0001g0298 a0004c0005t0001g0299 a0004c0005t0001g0300 a0004c0005t0001g0301 a0004c0005t0001g0302 a0004c0005t0001g0303 a0004c0005t0001g0304 a0004c0005t0001g0305 a0004c0005t0001g0307 a0004c0005t0001g0308	12	353	0.0340	201	c.123 others(218): Show c.1231-514_1231-513insGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25			chr1	TogoVar
B4GALNT3_chr12_454939_568509	511665	A A	ACCTTCCG others(194): Show ACCTTCCGCCTTCCGCCTTCCACCTTCCACCTTCCACCTTCCACCTTCCT TCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCCTT CCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCCAC CTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTC CG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0113 a0001c0001t0012g0113	1	176	0.0057	201	c.170 others(220): Show c.170-23475_170-23474insCACCTTCCACCTTCCACCTTCCTTCC ACCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCCTTCCA CCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCCACCTT CCACCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTCCGC CTTCCGCCTTCCGCCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCAS3_chr17_60672851_61397831	61045966	A A	ATATATAT others(194): Show ATATATATATAATATATATATTTATATATATATAATATATATATAATATA TATATTATATATATATAATATATATATAATATATATATTTATATATATAT AATATATATATTTATATATATATAATATATATATTTATATATATATTATA TATATTTATATATATATAATATATATATTTATATATATATAATATATATA TT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0074 a0002c0005t0002g0074	1	60	0.0167	201	c.202 others(220): Show c.2029+5084_2029+5085insATATATATATTTATATATATATAATA TATATATAATATATATATTATATATATATAATATATATATAATATATATA TTTATATATATATAATATATATATTTATATATATATAATATATATATTTA TATATATATTATATATATTTATATATATATAATATATATATTTATATATA TATAATATATATATTTATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BOK_chr2_241553745_241579131	241573135	T T	TGGTGAAG others(194): Show TGGTGAAGGGGCCCGGAACACCTGCTCTCACCTGAGCCCCAGGTGAAGGG GCCCGGAACACCTGCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGAACA CCTGCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGGAACACCTGCTCTC ACCTGAGCCCCTGGTGAAGGGGCCCGGAACACCTGCTCTCACCTGAGCCC CA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0003 a0001c0001t0036g0003	1	318	0.0031	201	c.73 others(210): Show c.733_*734insCTGCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGA ACACCTGCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGAACACCTGCTC TCACCTGAGCCCCAGGTGAAGGGGCCCGGGAACACCTGCTCTCACCTGAG CCCCTGGTGAAGGGGCCCGGAACACCTGCTCTCACCTGAGCCCCAGGTGA AGGGGCCCGGAACAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	5/5	734	INFO_REALIGN_3_PRIME	chr2	TogoVar
BSN_chr3_49549477_49676549	49605617	A A	ATATTTAT others(194): Show ATATTTATATATAATATATATTATATATTATATATATTTATATATAATAT ATATTATATATTATATATATTTATATATAATATATATTATATATTATATA TATTTATATATAATATATATTATATATTATATATATTTATATATAATATA TATTATATATTATATATAAATATAATATATATTACATATATGTAATATAT AT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	150	0.0067	201	c.225 others(220): Show c.225-19356_225-19355insTTTATATATAATATATATTATATATT ATATATATTTATATATAATATATATTATATATTATATATATTTATATATA ATATATATTATATATTATATATATTTATATATAATATATATTATATATTA TATATATTTATATATAATATATATTATATATTATATATAAATATAATATA TATTACATATATGTAATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
C19orf25_chr19_1468201_1484215	1480828	G G	GGTGGCTC others(194): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGAA TCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCAT CTCTACTAAAAAAGGAAGGAAAGAGAAGGAAGAAAGGAAGGAAAGAAGGA AGGAAGTAAAGAAAAGGAAGGAAGGGAGGGAGGGAGGAAAGGGCCAGGCA CA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	201	c.-16 others(212): Show c.-1669_-1668insTGTGCCTGGCCCTTTCCTCCCTCCCTCCCTTCCT TCCTTTTCTTTACTTCCTTCCTTCTTTCCTTCCTTTCTTCCTTCTCTTTC CTTCCTTTTTTAGTAGAGATGGGTTTCACCGTGTTGGCCAGGATGGTCTC GATCTCCTGACCTCGTGATTCGCCCACCTTGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCAC	C19orf25	ENSG00000119559.17	transcript	ENST00000585675.6	protein_coding		1614		chr19	TogoVar
C19orf25_chr19_1468201_1484215	1480926	A A	GTCTCTAC others(194): Show GTCTCTACTAAAAAAGGAAGGAAAGAGAAGGAAGAAAGGAAGGAAAGAAG GAAGGAAGTAAAGAAAAGGAAGGAAGGGAGGGAGGGAGGAAAGGGCCAGG CACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGC GAATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACACGGTGAAACC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	201	c.-17 others(212): Show c.-1766_-1765insGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATC TCCTGACCTCGTGATTCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGTGCCTGGCCCTTTCCTCCCTCCCTCCCTTCCTTCC TTTTCTTTACTTCCTTCCTTCTTTCCTTCCTTTCTTCCTTCTCTTTCCTT CCTTTTTTAGTAGAGAC	C19orf25	ENSG00000119559.17	transcript	ENST00000585675.6	protein_coding		1711		chr19	TogoVar
C1orf21_chr1_184382029_184634019	184410654	T T	TAATATAT others(194): Show TAATATATATATATTATATATATATAATATATATATATTATATATATATA TAATATATATATATTATATATATATATAATATATATATATTATATATATA TATAATATATATATATTATATATATATATAATATATATATATTATATATA TATAATATATATATATTATATATATATAATATATATATATTATATATATA TA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	135	0.0074	201	c.-12 others(222): Show c.-125+23287_-125+23288insATATATATATATTATATATATATA ATATATATATATTATATATATATATAATATATATATATTATATATATATA TAATATATATATATTATATATATATATAATATATATATATTATATATATA TATAATATATATATATTATATATATATAATATATATATATTATATATATA TAATATATATATATTATATATATATAA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410654	T T	TAATATAT others(194): Show TAATATATATATATTATATATATATATAATATATATATATTATATATATA TATAATATATATATATTATATATATATATAATATATATATATTATATATA TATATAATATATATATATTATATATATATAATATATATATATTATATATA TATAATATATATATATTATATATATATAATATATATATATTATATATATA TA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	135	0.0074	201	c.-12 others(222): Show c.-125+23287_-125+23288insATATATATATATTATATATATATA TAATATATATATATTATATATATATATAATATATATATATTATATATATA TATAATATATATATATTATATATATATATAATATATATATATTATATATA TATAATATATATATATTATATATATATAATATATATATATTATATATATA TAATATATATATATTATATATATATAA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C2CD4C_chr19_400445_414147	404678	C C	CGGGGTCC others(194): Show CGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGGTCCTGCCCTGAG GGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGG ATGGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGGATGGGGTCCTGCCCT GAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAA CG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0063 a0001c0001t0113g0063	1	163	0.0061	201	c.24 others(212): Show c.2417_*2418insCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCG TACCCCCTCAGACCCCTCAGGGCAGGACCCCATCCCCCCCCCCACACCCC TCAGGGCAGGACCCCCATCCCCCCCTCCACACCCCTCAGGGCAGGACCCC GTTCCCCCCTCCACACCCCTCAGGGCAGGACCCCCGTACCCCCTCAGACC CCTCAGGGCAGGACCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		766		chr19	TogoVar
C3_chr19_6672704_6725650	6700560	G G	GATATATT others(194): Show GATATATTATATATGTAATATATAATATATGATATATTATATATGTAATA TATAATATATGATATATTATATATGTAATATATAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATATAATATAT GATATATTATATATGTAATATATAATATATGATATATTATATATGTAATA TA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0183 a0001c0017t0001g0183	1	323	0.0031	201	c.244 others(220): Show c.2440+1566_2440+1567insTATATTACATATATAATATATCATAT ATTATATATTACATATATAATATATCATATATTATATATTACATATATAA TATATCATATATTATATATTACATATATAATATATCATATATTATATATT ACATATATAATATATCATATATTATATATTACATATATAATATATCATAT ATTATATATTACATATATAATATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
CA10_chr17_51625320_52163714	51831728	A A	AGCAGCAG others(194): Show AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCCGCCG CC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	151	0.0066	201	c.280 others(220): Show c.280-83911_280-83910insGGCGGCGGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCTGC	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(194): Show TTTCTTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCT CTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0001 a0020c0021t0001	a0020c0021t0001g0045 a0020c0021t0001g0045	1	90	0.0111	201	c.573 others(220): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGGAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(194): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTT CTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCT CTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0086 a0002c0003t0002g0086	1	90	0.0111	201	c.573 others(220): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(194): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0004 a0007c0004t0004	a0007c0004t0004g0175 a0007c0004t0004g0175	1	103	0.0097	201	c.300 others(218): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(194): Show GAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGG AAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAA GGGGGGAAGCGGGAGGAAGGGGGGGGAAGGGGGAGGAAGGGGGAGGAAGG GGGGAAGCGGGAGGAAGGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGG GT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0008 a0003c0011t0008	a0003c0011t0008g0001 a0003c0011t0008g0001	1	73	0.0137	201	c.207 others(218): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC CCCCCCTTCCTCCCGCTTCCCCCCTTCCCCCCCCTTCCTCCCGCTTCCCC CCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCC CTTCCTCCCACTTCCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(194): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGTGGGGACGGGAGTGGGGG GAAGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGG GA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0012 a0001c0002t0004g0012	1	66	0.0152	201	c.104 others(220): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCAC TCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCC TTCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCGTCTCC others(194): Show CCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCTCACATCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0340 a0001c0001t0002g0340	1	240	0.0042	201	c.-22 others(218): Show c.-22-1991_-22-1990insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACATCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGTCGTC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(194): Show CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0317 a0001c0008t0001g0317	1	240	0.0042	201	c.-22 others(218): Show c.-22-1979_-22-1978insTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGTCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGGG others(194): Show AAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAG GAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAA GG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	282	0.0035	201	c.234 others(218): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761482	A A	AAGAAGAA others(194): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAG GAGAGGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	338	0.0030	201	c.234 others(218): Show c.234+6825_234+6826insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTT CTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88950692	C C	CCACAGAG others(194): Show CCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGT CCCCTGGACCGGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTC CGGATCTGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAGAG TGTTGGCACCTGTCTTCCGGATCTGTTCACCCCTCCCCTGGATCGGCACC GG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03209.hp1 HG02145.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0251 a0001c0003t0002g0252 a0001c0003t0001g0251 a0001c0003t0002g0252	2	282	0.0071	201	c.151 others(220): Show c.151+25764_151+25964dupCCGGTGCCGATCCAGGGGAGGGGTGA ACAGATCCGGAAGACAGGTGCCAACACTCTGACCCTCTGTGGCGGTGCCG GTCCAGGGGACGGGTGAACAGATCCGGAAGACAGGTGCCAACACTCTGAC CCTCTGTGGCGGTGCCGGTCCAGGGGACGGGTGAACAGATCCGGAAGACA GGTGCCAACACTCTGACCCTCTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC127_chr5_191868_223153	209082	C C	CAGGACTC others(194): Show CAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACA CATCATTCCACAACACATAGGACTCCCCCACAAACACAGAAACAACCCTT CGCAGCCTGGCCACACACATCATTCCACAACACATAGGACTCCCCCACAA ACACAGAAACAACCCTTCGCAGCCTGGCCACACACATCATTCCACAACAC AT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0136 a0001c0001t0136	a0001c0001t0136g0064 a0001c0001t0136g0064	1	88	0.0114	201	c.122 others(218): Show c.122-3325_122-3125dupATGTGTTGTGGAATGATGTGTGTGGCCA GGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCTATGTGTTGTGG AATGATGTGTGTGGCCAGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGG AGTCCTATGTGTTGTGGAATGATGTGTGTGGCCAGGCTGCGAAGGGTTGT TTCTGTGTTTGTGGGGGAGTCCT	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC127_chr5_191868_223153	209086	A A	ACTCCCCC others(194): Show ACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACACATC ATTCCACAACACATAGGACTCCCCCACAAACACAGAAACAACCCTTCGCA GCCTGGCCACACACATCATTCCACAACACATAGGACTCCCCCACAAACAC AGAAACAACCCTTCGCAGCCTGGCCACACACATCATTCCACAACACATAG GG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0213 a0001c0001t0068g0213	1	404	0.0025	201	c.122 others(218): Show c.122-3129_122-3128insCCCTATGTGTTGTGGAATGATGTGTGTG GCCAGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCTATGTGTT GTGGAATGATGTGTGTGGCCAGGCTGCGAAGGGTTGTTTCTGTGTTTGTG GGGGAGTCCTATGTGTTGTGGAATGATGTGTGTGGCCAGGCTGCGAAGGG TTGTTTCTGTGTTTGTGGGGGAG	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC183_chr9_136791338_136812741	136803214	T T	TGGGGCCC others(194): Show TGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGC GGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	107	0.0093	201	c.666 others(216): Show c.666+432_666+433insCCCTCCAGGGCGGGCTCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGG GCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT GGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803215	G G	GGGGCCCT others(194): Show GGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	332	0.0030	201	c.666 others(216): Show c.666+432_666+433insCCCTCCAGGGCGGGCTCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803287	C C	CCCCCCAG others(194): Show CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	201	c.666 others(216): Show c.666+511_666+512insCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252002	T T	TCCACCCT others(194): Show TCCACCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCTGGGAAGGTCC AGGCAACCATCCCGCACAGCCGGCCGCCCACCCCGTCCACCAGGGGAAGG TCCAGGCGACCGTCCCGCAGAGCCGGCGCCCACCCTGTCCACCAGGGGAA GAGCCGGCCGCCCACCCGGTCCACCCCGGGAAGAGCCGGCCGCCCACCCG GC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp2 HG02129.hp2 HG02083.hp2 HG02129.hp2	a0091 a0094 a0091 a0094	a0091c0103 a0094c0123 a0091c0103 a0094c0123	a0091c0103t0118 a0094c0123t0117 a0091c0103t0118 a0094c0123t0117	a0091c0103t0118g0085 a0094c0123t0117g0270 a0091c0103t0118g0085 a0094c0123t0117g0270	2	398	0.0050	201	c.13 others(212): Show c.1391_*1591dupGCCGGGTGGGCGGCCGGCTCTTCCCGGGGTGGAC CGGGTGGGCGGCCGGCTCTTCCCCTGGTGGACAGGGTGGGCGCCGGCTCT GCGGGACGGTCGCCTGGACCTTCCCCTGGTGGACGGGGTGGGCGGCCGGC TGTGCGGGATGGTTGCCTGGACCTTCCCAGGGTGGACTGGGTGGGCGGCC GGCTCTTCCCAGGGTGG	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1591		chr9	TogoVar
CCDC30_chr1_42458286_42662190	42461713	A A	ATTTTTTT others(194): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0290 a0001c0004t0003g0290	1	321	0.0031	201	c.-22 others(212): Show c.-2277_-2276insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAAT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding		1572		chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(194): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCC TTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCT CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 NA19002.hp1 others(1): Show HG01256.hp1 HG01258.hp2 NA19002.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0092 others(1): Show a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0100	4	21	0.1905	201	c.-22 others(212): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(194): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCC TTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCT CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	18	0.0556	201	c.-22 others(212): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(194): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCC TTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCT CT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19091.hp2 NA19063.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0097 a0001c0001t0002g0024 a0001c0001t0002g0097	2	19	0.1053	201	c.-22 others(212): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882452	G G	GGGGGAGA others(194): Show GGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGG GAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAA GGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0103 a0001c0001t0002g0104	2	190	0.0105	201	c.303 others(220): Show c.303+23669_303+23670insGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882475	G G	GCGGGAGA others(194): Show GCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGG GAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAG CC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18612.hp1 HG00544.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0128 a0001c0001t0002g0129	2	245	0.0082	201	c.303 others(220): Show c.303+23646_303+23647insGGCTTTCCTTTCCTTCTCCCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTT CCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCN4_chr8_133186039_133236690	133213962	C C	CTATATAT others(194): Show CTATATATACACTATATATAGTTATATATACTATATATACACTATATATA GTATATATACTATATATAACTATATATAGTGTATATATACTATATATAAC TATATATAGTATATATACTATATATACACTATATATAGTGTATATATACT ATATATACACTATATATAGTAGTTATATATACTATATATACACTATATAT AG	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA18977.hp2 HG02897.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0073 a0001c0002t0003g0248 a0001c0001t0001g0073 a0001c0002t0003g0248	2	295	0.0068	201	c.349 others(216): Show c.349+840_349+841insTATATATACTATATATACACTATATATAGT ATATATACTATATATAACTATATATAGTGTATATATACTATATATAACTA TATATAGTATATATACTATATATACACTATATATAGTGTATATATACTAT ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TATATATACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133213998	T T	TATATACA others(194): Show TATATACACTATATATAGTTATATATACTATATATACACTATATATAGTT ATATATACTATATATACACTATATATAGTAGTTATATATACTATATATAC ACTATATATAGTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTAGTTATATATACACTATATAATAGTTATATATACT AC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02280.hp1 others(7): Show HG01109.hp2 HG02145.hp1 HG02280.hp1 HG02622.hp2 HG02723.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0010 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0010 a0001c0002t0012 a0001c0002t0021	a0001c0001t0001g0095 a0001c0001t0001g0260 a0001c0001t0001g0276 others(7): Show a0001c0001t0001g0095 a0001c0001t0001g0260 a0001c0001t0001g0276 a0001c0001t0001g0370 a0001c0001t0006g0261 a0001c0002t0010g0258 a0001c0002t0010g0259 a0001c0002t0010g0266 a0001c0002t0012g0106 a0001c0002t0021g0045	10	385	0.0260	201	c.349 others(216): Show c.349+873_349+874insTATATATACTATATATACACTATATATAGT TATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATATATAGTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTAGTTATATATACACTATATAATAGTTATATATAC TACATATACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(194): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT AT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	273	0.0037	201	c.487 others(218): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CEP72_chr5_607340_658553	628707	G G	GGACCCAG others(194): Show GGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCAGTC CCTGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGA GAACTCAGGTCACCGTCCCCGGGGAGTGGCCCCAGGACCCAGCCCCCTTC TTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCCCGGGGAGTGTTCCC AC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01517.hp1 HG01257.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0009 a0001c0001t0001g0011	2	88	0.0227	201	c.512 others(218): Show c.512+4170_512+4171insCGCAGTCCCTGGGGAGTGTTCCCAGGAC CCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCACCGTCCCCG GGGAGTGGCCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAAC TCAGGTTGCAGTCCCCGGGGAGTGTTCCCACGACCCAGCCCCCTTCTTTG TGCAGCTTCTGGAGAACTCAGGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GAAGGAAG others(194): Show GAAGGAAGAAAGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAAGAAAAAAAAGAAAGAAAAGAAAGAAAGAGGGAAGGAAGGAAAGA GA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0056 a0003c0003t0056	a0003c0003t0056g0190 a0003c0003t0056g0190	1	29	0.0345	201	c.-46 others(220): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCCTTCTTTCTTCCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COMMD10_chr5_116080025_116298287	116158474	C C	CCTCTCTC others(194): Show CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCCCCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCTCTCCCTCTC CT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	302	0.0033	201	c.510 others(220): Show c.510+24297_510+24298insTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTC TCCCTCTCCTCTCTCTCCCTCTCCTCTCTCCCCCTCTCCTCTCTCTCTCC CTCTCCTCTCTCTCTCCCTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158474	C C	CCTCTCTC others(194): Show CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTGTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCCCCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCTCTCCCTCTC CT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	302	0.0033	201	c.510 others(220): Show c.510+24297_510+24298insTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTGTCTCCCTCTCCTCTCTC TCCCTCTCCTCTCTCTCCCTCTCCTCTCTCCCCCTCTCCTCTCTCTCTCC CTCTCCTCTCTCTCTCCCTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCCGTGTC others(194): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCGCGTGTTACCCACAGATACACGGC CCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0217 a0001c0002t0004g0217	1	268	0.0037	201	c.927 others(216): Show c.927+684_927+685insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGT TACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTCACCCACAGATA CACGGCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

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