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
ATP10B_chr5_160558120_160857211	160653852	T T	TATACAAC others(96): Show TATACAACATAAATATATGTTGTATATACGTATATACAACATAAATATAT GTTGTATATACGTATATACAACATAAATATATGTTGTATATATGTATATA CAAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	159	0.0063	103	c.676 others(120): Show c.676-4597_676-4596insGTTGTATATACATATATACAACATATAT TTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTA TATACAACATATATTTATGTTGTAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112804110	T T	TTCCCTCC others(96): Show TTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCT CCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCC CTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0217 a0001c0022t0001g0217	1	248	0.0040	103	c.163 others(118): Show c.163-846_163-845insCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCC CTCTCTGCCCTCGTTCCCCTCCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(96): Show ATATATAGTATATATATATATATATATAGTTTATATATATATAGTTTATA TATATAAACTATATATATATAAACTATATATATATATATACTATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	164	0.0061	103	c.331 others(122): Show c.3314-1170_3314-1169insATATATATATATAGTATATATATATA TATAGTTTATATATATATAGTTTATATATATAAACTATATATATATAAAC TATATATATATATATATATACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(96): Show ATATATATAGTATATATATATATATATATAGTTTATATATATATAGTTTA TATATATAAACTATATATATATAAACTATATATATATATATACTATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	164	0.0061	103	c.331 others(122): Show c.3314-1170_3314-1169insATATATATATAGTATATATATATATA TAGTTTATATATATATAGTTTATATATATAAACTATATATATATAAACTA TATATATATATATATATACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362775	T T	TTCTTTCT others(96): Show TTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTCTTTCT TTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTC TCTC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0002 a0006c0004t0002	a0006c0004t0002g0229 a0006c0004t0002g0229	1	218	0.0046	103	c.385 others(118): Show c.385-139_385-138insGAGAGAAGAAAGAGAGAAAGAAAGAGAGAA AGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAGAGAA AGAAAGAGAGAAAGAAAGAAAGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707189	A A	ATATTATA others(96): Show ATATTATATATAATATTATATAATATAATATATATTATATATAATATAAT ATATTATATATAATATAATATTATATATAATATATTATATTATATAGAAT ATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00597.hp2 others(16): Show HG00323.hp1 HG00408.hp2 HG00597.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG02886.hp1 HG03098.hp1 HG04115.hp1 NA18968.hp1 NA18999.hp1 NA18999.hp2 NA19076.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0005 a0001c0007 others(6): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0002c0002 a0002c0003 a0003c0004 a0004c0018 a0008c0024	a0001c0001t0002 a0001c0001t0010 a0001c0005t0002 others(8): Show a0001c0001t0002 a0001c0001t0010 a0001c0005t0002 a0001c0007t0002 a0001c0010t0002 a0002c0002t0002 a0002c0003t0002 a0003c0004t0002 a0003c0004t0011 a0004c0018t0002 a0008c0024t0002	a0001c0001t0002g0151 a0001c0001t0002g0187 a0001c0001t0002g0199 others(16): Show a0001c0001t0002g0151 a0001c0001t0002g0187 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0240 a0001c0001t0002g0286 a0001c0001t0002g0331 a0001c0001t0010g0242 a0001c0005t0002g0359 a0001c0007t0002g0160 a0001c0010t0002g0363 a0002c0002t0002g0081 a0002c0002t0002g0189 a0002c0003t0002g0065 a0003c0004t0002g0354 a0003c0004t0011g0371 a0004c0018t0002g0094 a0008c0024t0002g0323 a0008c0024t0002g0324	19	337	0.0564	103	c.243 others(120): Show c.2430-473_2430-472insATATATTCTATATAATATAATATATTAT ATATAATATTATATTATATATAATATATTATATTATATATAATATATATT ATATTATATAATATTATATATAATA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707189	A A	ATATTATA others(96): Show ATATTATATATAATATTATATAATATAATATATATTATATATAATATTAT ATATTATATATAATATAATATTATATATAATATATTATATTATATAGAAT ATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	319	0.0031	103	c.243 others(120): Show c.2430-473_2430-472insATATATTCTATATAATATAATATATTAT ATATAATATTATATTATATATAATATATAATATTATATATAATATATATT ATATTATATAATATTATATATAATA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128864864	G G	GATAGATA others(96): Show GATAGATAGATCCGCCACATCCAGCCATTTTTTTTTTGTGTGTATATATA TAGATAGATAGATAGATCCGCCACATCCAGCCATTTTTTTGTGTGTGTAT ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0024 a0001c0001t0034g0024	1	440	0.0023	103	c.-15 others(114): Show c.-1546_-1545insATAGATAGATCCGCCACATCCAGCCATTTTTTTT TTGTGTGTATATATATAGATAGATAGATAGATCCGCCACATCCAGCCATT TTTTTGTGTGTGTATATAT	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding		1465		chr7	TogoVar
ATP6V1F_chr7_128857856_128870847	128864864	G G	GATAGATA others(96): Show GATAGATAGATCCGCCACATCCAGCCATTTTTTTTTTGTGTGTATATATA TAGATAGATAGATAGATCCGCCACATCCAGCCATTTTTTTGTGTGTGTAT ATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	440	0.0023	103	c.159 others(118): Show c.159-512_159-511insTAGATAGATCCGCCACATCCAGCCATTTTT TTTTTGTGTGTATATATATAGATAGATAGATAGATCCGCCACATCCAGCC ATTTTTTTGTGTGTGTATATATA	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
ATP8B1_chr18_57641426_57808315	57642321	G G	GAGTTGTT others(96): Show GAGTTGTTCGTTCCTTCCGGTGGGGTTCGTGGTCTCGCTAGCTTCAGGAG TGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCCGTTAAGGTGGCGCGT CTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0159 a0001c0001t0011g0159	1	306	0.0033	103	c.61 others(114): Show c.6166_*6167insGCAGACGCGCCACCTTAACGGCTGTAACACTCAC CGTGAAGGTCTGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCCA CCGGAAGGAACGAACAACT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4104		chr18	TogoVar
ATXN3_chr14_92053552_92111582	92060270	A A	ATATATAT others(96): Show ATATATATATATATATATATATACACACACATATATATATATATATATAT ATACACACATATATATATATATATATACACACATATATATATATATATAT ATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0017 a0003c0026t0017	a0003c0026t0017g0021 a0003c0026t0017g0022 a0003c0026t0017g0021 a0003c0026t0017g0022	2	113	0.0177	103	c.40 others(114): Show c.4049_*4050insAAATATATATATATATATATATGTGTGTATATAT ATATATATATATGTGTGTATATATATATATATATATATATGTGTGTGTAT ATATATATATATATATATA	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	11/11	4049		chr14	TogoVar
AVL9_chr7_32490489_32593726	32579411	A A	ATGTTATA others(96): Show ATGTTATATATAATATTATATATATAATAATATATATATAATATATAATA TTATATTATATTATATATTATATTATATATTATATATTATATATATAATA TATT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0025 a0001c0004t0025	a0001c0004t0025g0167 a0001c0004t0025g0167	1	311	0.0032	103	c.168 others(120): Show c.1689-808_1689-807insTGTTATATATAATATTATATATATAATA ATATATATATAATATATAATATTATATTATATTATATATTATATTATATA TTATATATTATATATATAATATATT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15			chr7	TogoVar
B3GALT1_chr2_167288001_167879045	167330204	T T	TGCAGTGG others(96): Show TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGCGCCCGCC ACCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0041 a0001c0003t0041	a0001c0003t0041g0115 a0001c0003t0041g0115	1	112	0.0089	103	c.-51 others(124): Show c.-511+36870_-511+36871insGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GCAGCTGGGACCACAGGCGCCCGCCACCG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4			chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167330204	T T	TGCAGTGG others(96): Show TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGCGCCCGCC ACCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG03225.hp1 others(1): Show HG02258.hp1 HG02922.hp1 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018	a0001c0001t0002g0094 a0001c0001t0011g0092 a0001c0001t0013g0091 others(1): Show a0001c0001t0002g0094 a0001c0001t0011g0092 a0001c0001t0013g0091 a0001c0001t0018g0093	4	115	0.0348	103	c.-51 others(124): Show c.-511+36870_-511+36871insGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGA GCAGCTGGGACCACAGGCGCCCGCCACCG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4			chr2	TogoVar
BBS4_chr15_72681207_72743473	72725774	T T	TCTTCCCC others(96): Show TCTTCCCCTTCCTCCTTCCCTCTTCCCCCATCCCCCTTCCCCCATCCCCC TTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTCCCCCT TCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03486.hp1 HG06807.hp1 HG02965.hp2 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0014 a0001c0003t0001g0017 a0001c0003t0001g0008 a0001c0003t0001g0014 a0001c0003t0001g0017	3	395	0.0076	103	c.587 others(120): Show c.587+1212_587+1213insCCCCCTTCCCCTTCCCCTTCCTCCTTCC CTCTTCCCCCATCCCCCTTCCCCCATCCCCCTTTCCCCATCCCCCTTTCC CCATCCCCCTTTCCCCATCCCCCTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BCHE_chr3_165767904_165842423	165797250	T T	TTCTTCCC others(96): Show TTCTTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCC TCCCTCCCTCCCCCCTCCCTTCCTCCCTTCCTTCCTTCTTCCCTCCCTCC TTCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	267	0.0037	103	c.151 others(124): Show c.1518-10940_1518-10939insGGAAGGAGGGAGGGAAGAAGGAAG GAAGGGAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAG GAAGGAAGGGAGGGGGGAGGGAGGGAAGA	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BDH1_chr3_197504783_197560968	197517623	A A	ATCAGTCA others(96): Show ATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCCCC TCATCAGTCATTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCC CCCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0040 a0004c0006t0040	a0004c0006t0040g0083 a0004c0006t0040g0083	1	296	0.0034	103	c.410 others(120): Show c.410-3208_410-3207insGGGGGGGTCGGCCTGAAGGGGGATGGAG ACCATAGAGCAGGAAATGACTGATGAGGGGGTCGGCCTGAGGGGGGATGG AGACCATAGAGCAGGAAGTGACTGA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197517779	C C	CCAGTCAC others(96): Show CCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCC CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACCCC CCCG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0033 a0001c0001t0029g0033	1	290	0.0034	103	c.410 others(120): Show c.410-3364_410-3363insCGGGGGGGTTGGCCTGAGGGGGGATGGA GACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGAAGGGGGATG GAGACCATAGAGCAGGAAGTGACTG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197517810	C C	CCCCCCTC others(96): Show CCCCCCTCAGGCCAACCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCC ATCCCCCTTCAGGCCGACCCCCCCATCAGTCACTTCCTGCTCTATGGTCT CCAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00642.hp1 others(56): Show HG00280.hp1 HG00423.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03688.hp2 HG03831.hp1 HG06807.hp1 NA18946.hp1 NA18955.hp2 NA18961.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp2 NA18992.hp1 NA19057.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0023 a0001c0001t0036 a0001c0001t0037 a0001c0001t0058 a0001c0001t0059 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0004t0002 a0001c0004t0015	a0001c0001t0001g0009 a0001c0001t0002g0008 a0001c0001t0002g0011 others(44): Show a0001c0001t0001g0009 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0266 a0001c0001t0005g0020 a0001c0001t0005g0059 a0001c0001t0005g0069 a0001c0001t0005g0114 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0252 a0001c0001t0009g0022 a0001c0001t0009g0215 a0001c0001t0023g0208 a0001c0001t0023g0234 a0001c0001t0036g0039 a0001c0001t0037g0046 a0001c0001t0058g0230 a0001c0001t0059g0231 a0001c0001t0071g0268 a0001c0001t0072g0267 a0001c0001t0073g0270 a0001c0004t0002g0003 a0001c0004t0002g0085 a0001c0004t0015g0084	59	272	0.2169	103	c.410 others(120): Show c.410-3395_410-3394insATGGAGACCATAGAGCAGGAAGTGACTG ATGGGGGGGTCGGCCTGAAGGGGGATGGAGACCATAGAGCAGGAAGTGAC TGATGGGGGGGTTGGCCTGAGGGGG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96216681	G G	GAGGAGGA others(96): Show GAGGAGGAGGAGGAAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGA GGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGG AGGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01256.hp2 HG02723.hp1 others(8): Show HG01255.hp2 HG01256.hp2 HG02723.hp1 HG03041.hp1 HG03130.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0024 a0001c0001t0034	a0001c0001t0004g0146 a0001c0001t0005g0052 a0001c0001t0006g0141 others(7): Show a0001c0001t0004g0146 a0001c0001t0005g0052 a0001c0001t0006g0141 a0001c0001t0007g0065 a0001c0001t0012g0014 a0001c0001t0012g0061 a0001c0001t0012g0066 a0001c0001t0014g0331 a0001c0001t0024g0233 a0001c0001t0034g0067	11	431	0.0255	103	c.-40 others(122): Show c.-40+11755_-40+11756insGGAGGAAGGAGGAGGAGGAAGGAGGA GGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGGAGGAAGGAGG AGGAGGAAGGAGGAGGAAGGAGGAGGA	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BEGAIN_chr14_100532147_100592417	100546339	A A	ACCCCGGC others(96): Show ACCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCCGCCCCGGCCCTCGCC CCGCCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCGCCCCGGCCCTCGC CCCG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	19	0.0526	103	c.233 others(118): Show c.233+161_233+162insCGGGGCGAGGGCCGGGGCGGGGCGAGGGCC GGGGCGGGGCGAGGGCCGGGGCGGGGCGAGGGCCGGGGCGGGGGCGAGGG CCGGGGCGGGGCGAGGGCCGGGG	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	3/6			chr14	TogoVar
BRCA1_chr17_43039295_43130364	43100644	A A	AACATATA others(96): Show AACATATATATAACATATATATATTATATATATATAACATATATATAACA TATATATTATATATATATACATATATATAACATATATATATGTTATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0122 a0003c0003t0003g0122	1	261	0.0038	103	c.442 others(118): Show c.442-765_442-764insATATATATATAACATATATATATGTTATAT ATATGTATATATATATAATATATATGTTATATATATGTTATATATATATA ATATATATATGTTATATATATGT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRF1_chr14_105204286_105306001	105232309	G G	GCAGCCCC others(96): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	66	0.0152	103	c.695 others(120): Show c.695-3397_695-3396insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGT TGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105233519	C C	CGGGGGAC others(96): Show CGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGC ATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGG GGCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	70	0.0143	103	c.695 others(120): Show c.695-4607_695-4606insCGCCCCCAGCTGGGCGACTACGCGGACA GTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTG CCACGGGGCTGCCAGGCTGTCCCCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105234131	C C	CGGGGGAC others(96): Show CGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGC ATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGG GGCG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	70	0.0143	103	c.695 others(120): Show c.695-5321_695-5219dupCGCCCCCAGCTGGGCGACTACGCGGACA GTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTG CCACGGGGCTGCCAGGCTGTCCCCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105234743	C C	CGGGGGAC others(96): Show CGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGC ATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGG GGCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	70	0.0143	103	c.695 others(120): Show c.695-5831_695-5830insCGCCCCCAGCTGGGCGACTACGCGGACA GTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTG CCACGGGGCTGCCAGGCTGTCCCCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105234895	A A	ATCTCAGG others(96): Show ATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGG GGCGGGGGACAGCCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTA GCAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	70	0.0143	103	c.695 others(120): Show c.695-5983_695-5982insATGCTAGGTTGTTGCTCCTGAGGGTGCC ACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACA GTGGTGTGGCCTCTCTCTCCTGAGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105236294	C C	CGTGGCAC others(96): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGGCCA CACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAG CCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	60	0.0167	103	c.694 others(120): Show c.694+4970_694+4971insAGGGCTGCCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCCTCTCTCTCCTGAGATGCT AGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105236375	C C	CGGGGGAC others(96): Show CGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGC ATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGG GGCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	70	0.0143	103	c.694 others(120): Show c.694+4889_694+4890insCGCCCCCAGCTGGGCGACTACGCGGACA GTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTG CCACGGGGCTGCCAGGCTGTCCCCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105236821	C C	CAACAACC others(96): Show CAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGT CGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGG AGCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03834.hp2 NA19030.hp2 HG02280.hp1 HG03834.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0002g0069 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0002g0069	3	14	0.2143	103	c.694 others(120): Show c.694+4443_694+4444insTGCTCCTGAGGGTGCCACGGGGCTGCCA GGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCT CTCTCTCCTGAGATGCTAGGTTGTT	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237394	C C	CGGGGGAC others(96): Show CGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGC ATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGG GGCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	70	0.0143	103	c.694 others(120): Show c.694+3870_694+3871insCGCCCCCAGCTGGGCGACTACGCGGACA GTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTG CCACGGGGCTGCCAGGCTGTCCCCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237802	C C	CGGGGGAC others(96): Show CGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGC ATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGG GGCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	70	0.0143	103	c.694 others(120): Show c.694+3462_694+3463insCGCCCCCAGCTGGGCGACTACGCGGACA GTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTG CCACGGGGCTGCCAGGCTGTCCCCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238032	C C	CACCCTCA others(96): Show CACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCAC TGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGT GGCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	69	0.0145	103	c.694 others(120): Show c.694+3130_694+3232dupTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGT	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238108	C C	CGGGGGAC others(96): Show CGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGC ATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGG GGCG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	70	0.0143	103	c.694 others(120): Show c.694+3054_694+3156dupCGCCCCCAGCTGGGCGACTACGCGGACA GTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTG CCACGGGGCTGCCAGGCTGTCCCCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
C10orf90_chr10_126419997_126675693	126565043	A A	AATATATA others(96): Show AATATATAATATATAAAATATAAAATATATATTATATATAATATATATAA TATTTATTATATATTATATAAAATATATAATATATAATATATAAAATATA TATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	199	0.0050	103	c.314 others(122): Show c.314-51105_314-51104insAATATATATTTTATATATTATATATT ATATATTTTATATAATATATAATAAATATTATATATATTATATATAATAT ATATTTTATATTTTATATATTATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C22orf42_chr22_32144006_32164303	32145637	A A	ATATTATA others(96): Show ATATTATATAATGATATATAATTTATTATATTATATAATGATATATAATT TATTATATTATATAATGATATATAATTTATTATATTATATAATGATATAT AATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01943.hp1 HG01261.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	328	0.0061	103	c.39 others(114): Show c.3902_*3903insAATTATATATCATTATATAATATAATAAATTATA TATCATTATATAATATAATAAATTATATATCATTATATAATATAATAAAT TATATATCATTATATAATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3368		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32145661	A A	ATTATATT others(96): Show ATTATATTATATAATGATATATAATTTATTATATTATATAATGATATATA ATTTATTATATTATATAATGATATATAATTTATTATATAATGATATATAA TTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	103	c.38 others(114): Show c.3878_*3879insCAAATTATATATCATTATATAATAAATTATATAT CATTATATAATATAATAAATTATATATCATTATATAATATAATAAATTAT ATATCATTATATAATATAA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3344		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32146653	A A	ATATTATA others(96): Show ATATTATATATATAGTATATAATATATATTATATATATAATATATAATAT AATCTATATTATATATTATATATATTTATATGTATATATTATATATATTT ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0047 a0002c0004t0003g0047	1	391	0.0026	103	c.28 others(114): Show c.2886_*2887insATATAAATATATATAATATATACATATAAATATA TATAATATATAATATAGATTATATTATATATTATATATATAATATATATT ATATACTATATATATAATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2352		chr22	TogoVar
CA10_chr17_51625320_52163714	51831667	A A	ACAGCAGC others(96): Show ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	37	0.0270	103	c.280 others(122): Show c.280-83850_280-83849insGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCTGCTG	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CACNA1C_chr12_2047987_2702950	2407255	C C	CACATCGT others(96): Show CACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCATGAC CCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCG GTGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0005 a0001c0001t0017g0005	1	94	0.0106	103	c.478 others(122): Show c.478-41623_478-41622insGGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTT TGATAATAGCCGTCCTGATAAGTGTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407294	C C	CTCATCAT others(96): Show CTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02922.hp2 HG03239.hp1 HG01496.hp1 HG02922.hp2 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0033 a0001c0003 a0001c0010 a0001c0033	a0001c0003t0010 a0001c0010t0008 a0001c0033t0020 a0001c0003t0010 a0001c0010t0008 a0001c0033t0020	a0001c0003t0010g0030 a0001c0010t0008g0069 a0001c0033t0020g0075 a0001c0003t0010g0030 a0001c0010t0008g0069 a0001c0033t0020g0075	3	97	0.0309	103	c.478 others(122): Show c.478-41579_478-41477dupTTCATCATGACCCAGTGGGAAGGAAC GTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCAGTGGACATCGTCTCC ACCGACACCATGTGGGTACTGGGGAGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407354	A A	AGTGGACA others(96): Show AGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCTTCATCA TGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTG TGCG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02523.hp1 HG02683.hp2 others(1): Show HG02040.hp2 HG02523.hp1 HG02683.hp2 HG03490.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0001c0014 others(1): Show a0001c0001 a0001c0005 a0001c0014 a0005c0030	a0001c0001t0002 a0001c0005t0010 a0001c0014t0039 others(1): Show a0001c0001t0002 a0001c0005t0010 a0001c0014t0039 a0005c0030t0001	a0001c0001t0002g0096 a0001c0005t0010g0089 a0001c0014t0039g0095 others(1): Show a0001c0001t0002g0096 a0001c0005t0010g0089 a0001c0014t0039g0095 a0005c0030t0001g0058	4	96	0.0417	103	c.478 others(122): Show c.478-41520_478-41519insGGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCTTCATCATGACCCAGTGGGAAGGAACGTCCTTT TGATAATAGCCGTCCTGATAAGTGTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407397	T T	TTCATCAT others(96): Show TTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02723.hp1 others(2): Show HG02451.hp1 HG02572.hp2 HG02723.hp1 HG03041.hp2 HG03209.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0040 others(1): Show a0001c0001 a0001c0005 a0002c0040 a0003c0035	a0001c0001t0004 a0001c0001t0013 a0001c0005t0026 others(2): Show a0001c0001t0004 a0001c0001t0013 a0001c0005t0026 a0002c0040t0016 a0003c0035t0025	a0001c0001t0004g0042 a0001c0001t0013g0013 a0001c0005t0026g0078 others(2): Show a0001c0001t0004g0042 a0001c0001t0013g0013 a0001c0005t0026g0078 a0002c0040t0016g0054 a0003c0035t0025g0077	5	75	0.0667	103	c.478 others(122): Show c.478-41416_478-41314dupAGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTT TGATAATAGCCGTCCTGATAAGTGTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407457	A A	AGTGGACA others(96): Show AGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCA TGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTG TGCG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03139.hp2 HG06807.hp2 others(1): Show HG02647.hp1 HG03139.hp2 HG06807.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0004 a0001c0001t0017 a0001c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0017 a0001c0002t0001 a0001c0006t0001	a0001c0001t0004g0104 a0001c0001t0017g0005 a0001c0002t0001g0093 others(1): Show a0001c0001t0004g0104 a0001c0001t0017g0005 a0001c0002t0001g0093 a0001c0006t0001g0102	4	83	0.0482	103	c.478 others(122): Show c.478-41417_478-41416insGGTGGACATCGTCTCCACCGACACCA TGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAACGTCCTTT TGATAATAGCCGTCCTGATAAGTGTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407706	C C	CTCATCAT others(96): Show CTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG03516.hp1 others(1): Show HG02922.hp1 HG03139.hp1 HG03516.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0011 a0001c0025 a0001c0026 others(1): Show a0001c0011 a0001c0025 a0001c0026 a0004c0039	a0001c0011t0030 a0001c0025t0007 a0001c0026t0003 others(1): Show a0001c0011t0030 a0001c0025t0007 a0001c0026t0003 a0004c0039t0009	a0001c0011t0030g0039 a0001c0025t0007g0014 a0001c0026t0003g0071 others(1): Show a0001c0011t0030g0039 a0001c0025t0007g0014 a0001c0026t0003g0071 a0004c0039t0009g0040	4	96	0.0417	103	c.478 others(122): Show c.478-41246_478-41245insCGTCCTTTTGATAATAGCCGTCCTGA TAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGA GCTTCATCATGACCCAGTGGGAAGGAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(96): Show TGGCGGGTGAATAGATGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0018 a0002c0008t0018	a0002c0008t0018g0030 a0002c0008t0018g0030	1	194	0.0052	103	c.300 others(120): Show c.300-9386_300-9385insATAGATGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(96): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG03017.hp1 HG00140.hp2 HG01109.hp1 HG03017.hp1	a0002 a0005 a0002 a0005	a0002c0013 a0005c0009 a0002c0013 a0005c0009	a0002c0013t0001 a0002c0013t0033 a0005c0009t0007 a0002c0013t0001 a0002c0013t0033 a0005c0009t0007	a0002c0013t0001g0160 a0002c0013t0033g0205 a0005c0009t0007g0154 a0002c0013t0001g0160 a0002c0013t0033g0205 a0005c0009t0007g0154	3	196	0.0153	103	c.300 others(120): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596304	C C	CGGAGGGA others(96): Show CGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGCAGGGCGGAGG GAGATGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGGGGAGCA GGGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	194	0.0052	103	c.237 others(120): Show c.237-1832_237-1831insAGCAGGACGGAGGGAGATGGGGGCAGGG CGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGG GGAGCAGGGTGGAGGGAGATGGGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82060168	A A	ATATATAT others(96): Show ATATATATAATATATATATATATTATATATATAATATATATATAATACAT ATATATATTATATATATATTATATATATATAATATATATATAATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	97	0.0103	103	c.879 others(118): Show c.879+259_879+260insATATATATATATTATATATATATTATATAT ATATAATATATATATAATATATATATGTATTATATATATATTATATATAT AATATATATATATATTATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82060211	A A	ATTATATA others(96): Show ATTATATATATATTATATATATATAATATATATATAATATATATATATTA TATATATATTATATATATAATATATATATAATATATATATATTATATATA TATT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp2 HG03239.hp2 HG01074.hp2 HG01123.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0005g0112 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0005g0112	3	87	0.0345	103	c.879 others(118): Show c.879+216_879+217insAATATATATATAATATATATATATTATATA TATATTATATATATAATATATATATAATATATATATATTATATATATATT ATATATATATAATATATATATAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar

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