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
ATP4B_chr13_113643804_113663198	113647669	CCTCGAGG others(32): Show CCTCGAGGACTCCGGGCTCACAGCCAACCTGCTGGCACGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02027.hp2 HG02145.hp1 others(10): Show HG01106.hp2 HG02027.hp2 HG02145.hp1 HG02615.hp1 HG03041.hp1 HG03471.hp1 HG04184.hp1 NA18747.hp1 NA18957.hp2 NA18979.hp1 NA18995.hp1 NA19076.hp2 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0006c0013	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0002c0005t0002 a0006c0013t0003	a0001c0001t0001g0068 a0001c0001t0001g0139 a0001c0001t0005g0117 others(10): Show a0001c0001t0001g0068 a0001c0001t0001g0139 a0001c0001t0005g0117 a0001c0002t0001g0050 a0001c0002t0001g0065 a0001c0002t0001g0094 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0186 a0001c0002t0001g0197 a0001c0002t0001g0203 a0002c0005t0002g0108 a0006c0013t0003g0109	13	454	0.0286	-39	c.16 others(50): Show c.1666_*1704delCCGTGCCAGCAGGTTGGCTGTGAGCCCGGAGTCC TCGAG	ATP4B	ENSG00000186009.5	transcript	ENST00000335288.5	protein_coding		1134		chr13	TogoVar
ATP5ME_chr4_667436_679276	669452	CACTACCC others(32): Show CACTACCCCATGCTATTCCCACTACGCCATGCTATTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG01358.hp2 others(2): Show HG00642.hp1 HG01261.hp1 HG01358.hp2 HG02622.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	5	391	0.0128	-39	c.30 others(50): Show c.3009_*3047delCGGGAATAGCATGGCGTAGTGGGAATAGCATGGG GTAGT	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		2983		chr4	TogoVar
ATP6V0A2_chr12_123707353_123766755	123728868	ACTCTGAT others(32): Show ACTCTGATCACTTGATTAGTTCCATTACTGGTCGTGGTCG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0158	1	208	0.0048	-39	c.648 others(55): Show c.648+998_648+1036delGCTCTGATCACTTGATTAGTTCCATTACT GGTCGTGGTC	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP6V1H_chr8_53710543_53848245	53755703	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18998.hp2 NA18991.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	282	0.0071	-39	c.127 others(56): Show c.1277+813_1277+851delTATATATATATATATATATATATATATA TATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP8B4_chr15_49853238_50124233	50086906	ATATTATT others(32): Show ATATTATTATATATAATAAAATAATATAGAGATCTATATT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG02630.hp2 others(3): Show HG01167.hp1 HG01884.hp1 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0002 a0001c0001t0019 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0019 a0002c0002t0002 a0004c0004t0011	a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0019g0026 others(3): Show a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0019g0026 a0002c0002t0002g0069 a0002c0002t0002g0070 a0004c0004t0011g0068	6	209	0.0287	-39	c.29- others(56): Show c.29-12760_29-12722delAATATAGATCTCTATATTATTTTATTAT ATATAATAATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79347399	CACAGGGC others(32): Show CACAGGGCTGGCCCATGTCAGATCATAGGGGTGTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02630.hp2 HG02922.hp2 HG01952.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0091 a0001c0004t0002g0092 a0001c0004t0002g0093 a0001c0004t0002g0091 a0001c0004t0002g0092 a0001c0004t0002g0093	3	296	0.0101	-39	c.268 others(56): Show c.2683-363_2683-325delTGGCCCATGTCAGATCATAGGGGTGTCT TCCGACAGGGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	23/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79378939	CCAGCGGA others(32): Show CCAGCGGAGGGACTGCCCAGCACCCACCCGCCCTCCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	296	0.0034	-39	c.15 others(50): Show c.1557_*1595delCAGCGGAGGGACTGCCCAGCACCCACCCGCCCTC CCCCG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding		657		chr18	TogoVar
AUTS2_chr7_69593475_70798506	70628332	ATATATAT others(32): Show ATATATATAGTATATATATATATGTATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(65): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00597.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02055.hp1 HG02055.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG04199.hp2 NA18612.hp1 NA18952.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0002c0002 a0002c0010 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0008 a0001c0003t0027 a0001c0004t0012 a0001c0004t0013 a0001c0005t0030 a0001c0007t0006 a0001c0008t0017 a0002c0002t0001 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033 a0003c0011t0007	a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0036 others(65): Show a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0072 a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0005g0028 a0001c0001t0006g0010 a0001c0001t0006g0038 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0010g0064 a0001c0001t0010g0065 a0001c0001t0011g0041 a0001c0001t0014g0070 a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0018g0001 a0001c0001t0019g0076 a0001c0001t0020g0029 a0001c0001t0021g0060 a0001c0001t0022g0031 a0001c0001t0023g0075 a0001c0001t0025g0050 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0008g0039 a0001c0003t0008g0069 a0001c0003t0027g0009 a0001c0004t0012g0025 a0001c0004t0013g0024 a0001c0005t0030g0013 a0001c0007t0006g0027 a0001c0008t0017g0046 a0002c0002t0001g0057 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014 a0003c0011t0007g0004	68	76	0.8947	-39	c.691 others(58): Show c.691-70231_691-70193delATAGTATATATATATATGTATATATA TATATATGTATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
B3GNT5_chr3_183248253_183278385	183269044	TATTCCTG others(32): Show TATTCCTGCCTTGTCTGGGGCAAGCCTTAATGGATTTTTA	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	388	0.0026	-39	c.-30 others(56): Show c.-301-453_-301-415delATTCCTGCCTTGTCTGGGGCAAGCCTTA ATGGATTTTTA	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1			chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	82971979	CAGAAGGA others(32): Show CAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01069.hp2 others(6): Show HG00639.hp1 HG00741.hp1 HG01069.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02148.hp1 HG02293.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172	9	257	0.0350	-39	c.460 others(56): Show c.460-6272_460-6234delAGCCCCTGTGGTGTGGTGTGGTCGGCAC CAGGTCCTTCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972109	CGACCACA others(32): Show CGACCACACCACACCACAGGGGATAGAAGGACCTGGTACT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0135 a0001c0002t0016g0135	1	261	0.0038	-39	c.460 others(56): Show c.460-6402_460-6364delAGTACCAGGTCCTTCTATCCCCTGTGGT GTGGTGTGGTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972334	GGTACTGA others(32): Show GGTACTGACCACACCACACCACAGGGGATAGAAGGACCCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19240.hp2 HG02886.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0016 a0001c0011t0010 a0001c0002t0016 a0001c0011t0010	a0001c0002t0016g0135 a0001c0011t0010g0147 a0001c0002t0016g0135 a0001c0011t0010g0147	2	266	0.0075	-39	c.460 others(56): Show c.460-6627_460-6589delTGGGTCCTTCTATCCCCTGTGGTGTGGT GTGGTCAGTAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALT4_chr3_119206742_119245878	119242880	GCCTCTGC others(32): Show GCCTCTGCCCAGCCGCCGCCCCGTCTGGGAGGTGGGGGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0062 a0002c0002t0005g0062	1	434	0.0023	-39	c.-24 others(50): Show c.-2433_-2395delGGCCCCCACCTCCCAGACGGGGCGGCGGCTGGGC AGAGG	B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding		2003		chr3	TogoVar
BAG4_chr8_38171855_38218301	38192220	GGATTAGT others(32): Show GGATTAGTTATTGGAGAAGGATAGAGGTGATCTAATGTCT	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	304	0.0033	-39	c.271 others(54): Show c.271-467_271-429delGATTAGTTATTGGAGAAGGATAGAGGTGAT CTAATGTCT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	1/4			chr8	TogoVar
BAIAP2_chr17_81030151_81122434	81110072	TGAACTCT others(32): Show TGAACTCTGGGGAATTGAGTGCAGGGCACAGCCCGGCTCA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00597.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0005t0002 a0002c0002t0002 a0002c0005t0002	a0002c0002t0002g0134 a0002c0005t0002g0326 a0002c0002t0002g0134 a0002c0005t0002g0326	2	374	0.0053	-39	c.153 others(58): Show c.1535+1565_1535+1603delAACTCTGGGGAATTGAGTGCAGGGCA CAGCCCGGCTCAG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANK1_chr4_101785730_102079812	102079390	GATATTTA others(32): Show GATATTTAAGTAATGATGTGAGCTGCAAATGCCTGGACTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0177 a0001c0002t0005g0177	1	282	0.0035	-39	c.53 others(50): Show c.5392_*5430delATATTTAAGTAATGATGTGAGCTGCAAATGCCTG GACTC	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding		4579		chr4	TogoVar
BCL11A_chr2_60452194_60558654	60467411	GTACTGGT others(32): Show GTACTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0067 a0001c0001t0037g0067	1	260	0.0038	-39	c.487 others(56): Show c.487+1282_487+1320delTTACCACCACCATCACTACCACCACCAC CATCACCAGTA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467636	GTGGTGAT others(32): Show GTGGTGATGGTGGTGATGATGGTGATGGTACTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA20129.hp1 HG00544.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0033 a0001c0001t0008 a0001c0001t0033	a0001c0001t0008g0133 a0001c0001t0033g0023 a0001c0001t0008g0133 a0001c0001t0033g0023	2	175	0.0114	-39	c.487 others(56): Show c.487+1057_487+1095delTCACCACCAGTACCATCACCATCATCAC CACCATCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52116546	GCATATTA others(32): Show GCATATTAATCCCTTAAATGTCTATCATTTGTGTTGGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0117 a0002c0002t0005g0117	1	456	0.0022	-39	c.-38 others(50): Show c.-3859_-3821delTTCCCAACACAAATGATAGACATTTAAGGGATTA ATATG	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		3772		chr15	TogoVar
BCL9_chr1_147536501_147631216	147541080	AGAGAAGA others(32): Show AGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG02280.hp2 others(3): Show HG00438.hp1 HG00544.hp2 HG02280.hp2 NA18968.hp2 NA19007.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0131 others(3): Show a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0131 a0001c0001t0004g0065 a0001c0001t0008g0226 a0001c0001t0014g0229	6	314	0.0191	-39	c.-10 others(50): Show c.-1071_-1033delGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGA GAGAG	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		420		chr1	TogoVar
BID_chr22_17729138_17779469	17754152	TGGGGGTG others(32): Show TGGGGGTGACATTCCCCCAGTCTCCAGGACTCTGCCGGGC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00639.hp1 others(41): Show HG00423.hp2 HG00621.hp2 HG00639.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01891.hp1 HG01975.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02148.hp1 HG02273.hp1 HG02572.hp1 HG02809.hp2 HG03195.hp2 HG03471.hp1 HG03492.hp2 NA18522.hp2 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18960.hp2 NA18975.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA19001.hp2 NA19005.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0035 others(40): Show a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0260 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0303 a0001c0001t0001g0318 a0001c0001t0001g0329 a0001c0001t0003g0155 a0001c0001t0004g0077 a0001c0001t0004g0274	44	358	0.1229	-39	c.-58 others(56): Show c.-58-4017_-58-3979delGCCCGGCAGAGTCCTGGAGACTGGGGGA ATGTCACCCCC	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BID_chr22_17729138_17779469	17754191	CGGGGGTG others(32): Show CGGGGGTGACATTCCCCCAGTCTCCAGGACTCTGCCGGAT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	358	0.0028	-39	c.-58 others(56): Show c.-58-4056_-58-4018delATCCGGCAGAGTCCTGGAGACTGGGGGA ATGTCACCCCC	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BID_chr22_17729138_17779469	17756410	CTCTTTCT others(32): Show CTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG02647.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0325 a0001c0001t0003g0094 a0001c0001t0003g0325	2	360	0.0056	-39	c.-58 others(56): Show c.-58-6275_-58-6237delAAGAAAGAAAGAAAGAAGAAAGAAAGAA AGAAAGAAAGA	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BLOC1S2_chr10_100268293_100291680	100276323	CTCTCTCT others(32): Show CTCTCTCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0047 a0001c0004t0015g0047	1	258	0.0039	-39	c.398 others(54): Show c.398-869_398-831delCGGGAGAGGGAGACGGGAGAGGGAGACGGG AGAGAGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BMP5_chr6_55748653_55880590	55766845	ATTTCATT others(32): Show ATTTCATTTCTACAACCTGAAATGGTTTCATCCATGTCTG	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	318	0.0031	-39	c.102 others(58): Show c.1028-6351_1028-6313delCAGACATGGATGAAACCATTTCAGGT TGTAGAAATGAAA	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	4/6			chr6	TogoVar
BMPR1A_chr10_86751619_86932969	86790177	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp1 HG02896.hp1 others(6): Show HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0014 a0001c0003t0032 others(2): Show a0001c0002t0006 a0001c0003t0014 a0001c0003t0032 a0001c0003t0055 a0001c0003t0057	a0001c0002t0006g0011 a0001c0003t0014g0002 a0001c0003t0014g0007 others(6): Show a0001c0002t0006g0011 a0001c0003t0014g0002 a0001c0003t0014g0007 a0001c0003t0014g0008 a0001c0003t0014g0010 a0001c0003t0032g0004 a0001c0003t0032g0009 a0001c0003t0055g0006 a0001c0003t0057g0003	9	274	0.0328	-39	c.-26 others(60): Show c.-268+33260_-268+33298delAAAAAAAAAAATATATATATATAT ATATATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790179	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0005 a0001c0003t0014g0005	1	274	0.0036	-39	c.-26 others(60): Show c.-268+33262_-268+33300delAAAAAAAAATATATATATATATAT ATATATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BNC2_chr9_16404503_16875670	16539619	AAGGGAGG others(32): Show AAGGGAGGGAGGGAGCGAGGGAGGGAGAGAGAGAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0122 a0001c0001t0076g0122	1	139	0.0072	-39	c.669 others(58): Show c.669+12872_669+12910delCTTCTCTCTCTCTCTCCCTCCCTCGC TCCCTCCCTCCCT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNIP1_chr5_173139531_173169387	173148076	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0135	1	350	0.0029	-39	c.177 others(56): Show c.177+1120_177+1158delAAAAAAATATATATATATATATATATAT ATATATATATA	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BPTF_chr17_67820503_67989378	67958608	AATCCTAG others(32): Show AATCCTAGCTAGTTGGGAGGCTGAGGCAGGAGAATCACTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	272	0.0037	-39	c.792 others(56): Show c.7927-932_7927-894delATCCTAGCTAGTTGGGAGGCTGAGGCAG GAGAATCACTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	23/27			chr17	TogoVar
BRAF_chr7_140714337_140929929	140840325	GAAAATAG others(32): Show GAAAATAGATAAATTGGAATTCCATCCACATTTAAACTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp1 others(101): Show HG00099.hp2 HG00408.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG01074.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01261.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18947.hp1 NA18956.hp2 NA18959.hp1 NA18963.hp2 NA18968.hp2 NA18986.hp2 NA19001.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0003t0002 a0001c0004t0009 a0001c0006t0002 a0003c0007t0001	a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0116 others(101): Show a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0174 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0006g0003 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0008g0113 a0001c0001t0008g0141 a0001c0001t0008g0143 a0001c0001t0008g0152 a0001c0001t0009g0115 a0001c0001t0009g0150 a0001c0001t0010g0126 a0001c0001t0010g0127 a0001c0001t0010g0139 a0001c0001t0011g0153 a0001c0001t0011g0163 a0001c0001t0011g0176 a0001c0001t0012g0107 a0001c0001t0014g0002 a0001c0001t0015g0112 a0001c0001t0016g0122 a0001c0001t0017g0151 a0001c0001t0018g0110 a0001c0001t0020g0130 a0001c0001t0021g0134 a0001c0001t0025g0160 a0001c0001t0026g0162 a0001c0001t0028g0158 a0001c0001t0031g0181 a0001c0001t0032g0180 a0001c0001t0033g0187 a0001c0003t0002g0089 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0004t0009g0128 a0001c0004t0009g0129 a0001c0006t0002g0104 a0003c0007t0001g0179	104	188	0.5532	-39	c.241 others(56): Show c.241-5492_241-5454delAAAGTTTAAATGTGGATGGAATTCCAAT TTATCTATTTT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	2/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140853577	GAATTTAC others(32): Show GAATTTACTATTCCTTCTGCCTGGAATGCTCTTCCCCTAA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0110 a0001c0001t0018g0110	1	188	0.0053	-39	c.139 others(56): Show c.139-3404_139-3366delTTAGGGGAAGAGCATTCCAGGCAGAAGG AATAGTAAATT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140840325	GAAAATAG others(32): Show GAAAATAGATAAATTGGAATTCCATCCACATTTAAACTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00558.hp1 others(104): Show HG00099.hp1 HG00408.hp1 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG01074.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01261.hp1 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18947.hp1 NA18956.hp2 NA18959.hp2 NA18963.hp1 NA18968.hp2 NA18986.hp1 NA19001.hp1 NA19007.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0003c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(37): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0003t0002 a0001c0004t0045 a0001c0004t0046 a0001c0006t0035 a0003c0007t0022	a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 others(104): Show a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0157 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0008g0136 a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0140 a0001c0001t0008g0142 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0009g0173 a0001c0001t0009g0174 a0001c0001t0009g0177 a0001c0001t0013g0002 a0001c0001t0013g0003 a0001c0001t0013g0139 a0001c0001t0016g0120 a0001c0001t0016g0121 a0001c0001t0021g0155 a0001c0001t0023g0128 a0001c0001t0024g0145 a0001c0001t0025g0115 a0001c0001t0026g0153 a0001c0001t0027g0147 a0001c0001t0028g0149 a0001c0001t0029g0154 a0001c0001t0030g0152 a0001c0001t0031g0156 a0001c0001t0032g0119 a0001c0001t0034g0169 a0001c0001t0036g0097 a0001c0001t0037g0159 a0001c0001t0038g0135 a0001c0001t0041g0134 a0001c0001t0042g0141 a0001c0001t0043g0164 a0001c0001t0044g0158 a0001c0001t0052g0150 a0001c0001t0055g0162 a0001c0001t0056g0114 a0001c0001t0057g0105 a0001c0001t0058g0185 a0001c0001t0059g0186 a0001c0001t0060g0195 a0001c0001t0061g0196 a0001c0003t0002g0092 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0004t0045g0132 a0001c0004t0046g0133 a0001c0006t0035g0108 a0003c0007t0022g0184	107	194	0.5515	-39	c.241 others(56): Show c.241-5492_241-5454delAAAGTTTAAATGTGGATGGAATTCCAAT TTATCTATTTT	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	2/17			chr7	TogoVar
BRAF_chr7_140725665_140929929	140853577	GAATTTAC others(32): Show GAATTTACTATTCCTTCTGCCTGGAATGCTCTTCCCCTAA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0114 a0001c0001t0056g0114	1	194	0.0052	-39	c.139 others(56): Show c.139-3404_139-3366delTTAGGGGAAGAGCATTCCAGGCAGAAGG AATAGTAAATT	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BRD4_chr19_15230519_15337539	15334888	AAAAAAAA others(32): Show AAAAAAAAAAGGAAAGCAAACTCAGTTCTAAAAAGTCTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0201 a0001c0001t0008g0201	1	206	0.0049	-39	c.-26 others(50): Show c.-2672_-2634delGTAGACTTTTTAGAACTGAGTTTGCTTTCCTTTT TTTTT	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding		2350		chr19	TogoVar
BRWD1_chr21_39180482_39318632	39217044	TATATATT others(32): Show TATATATTTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0296 a0001c0001t0003g0296	1	336	0.0030	-39	c.365 others(58): Show c.3659+1069_3659+1107delTATATATATATATATATATATATATA TATATAAATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217045	ATATATTT others(32): Show ATATATTTATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0003 a0001c0020t0003	a0001c0020t0003g0327 a0001c0020t0003g0327	1	332	0.0030	-39	c.365 others(58): Show c.3659+1068_3659+1106delATATATATATATATATATATATATAT ATATATAAATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39311048	TAGATGCC others(32): Show TAGATGCCATATGTCATAGCCAAATCACAGCCATATTATC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0027 a0004c0003t0027	a0004c0003t0027g0005 a0004c0003t0027g0005	1	336	0.0030	-39	c.198 others(56): Show c.198+1754_198+1792delGATAATATGGCTGTGATTTGGCTATGAC ATATGGCATCT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	4/40			chr21	TogoVar
BSND_chr1_54993933_55022172	55010529	GTTCTGGG others(32): Show GTTCTGGGTTGAGGCTGGGGTTCCCGGCCTAGGGAAGGGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0186 a0001c0001t0186	a0001c0001t0186g0158 a0001c0001t0186g0158	1	446	0.0022	-39	c.19 others(50): Show c.1905_*1943delTGGGTTGAGGCTGGGGTTCCCGGCCTAGGGAAGG GCTTC	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	4/4	1905	INFO_REALIGN_3_PRIME	chr1	TogoVar
BSPH1_chr19_47963046_47997170	47963898	TTTTCTTT others(32): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(15): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG02683.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0146 a0001c0001t0001g0229 a0001c0001t0002g0022 others(11): Show a0001c0001t0001g0146 a0001c0001t0001g0229 a0001c0001t0002g0022 a0001c0001t0002g0244 a0001c0001t0002g0259 a0001c0001t0002g0284 a0001c0001t0002g0328 a0001c0001t0002g0359 a0001c0001t0002g0373 a0002c0002t0001g0042 a0002c0002t0002g0045 a0002c0003t0001g0023 a0002c0003t0002g0004 a0002c0003t0002g0405	18	256	0.0703	-39	c.42 others(50): Show c.4275_*4313delGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAA	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding		4147		chr19	TogoVar
BTD_chr3_15596745_15658714	15650980	GGATGGCC others(32): Show GGATGGCCTCGATCTCCTGACCTCATGATCTGCCTGCCTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0004 a0001c0001t0056g0004	1	414	0.0024	-39	c.54 others(50): Show c.5493_*5531delGATGGCCTCGATCTCCTGACCTCATGATCTGCCT GCCTC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding	4/4	5493		chr3	TogoVar
C10orf62_chr10_97584721_97595934	97592620	AGACAATT others(32): Show AGACAATTTGATTATGAGTGTGTGTCAAAGTTTGATTATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	430	0.0023	-39	c.20 others(50): Show c.2052_*2090delGACAATTTGATTATGAGTGTGTGTCAAAGTTTGA TTATC	C10orf62	ENSG00000203942.5	transcript	ENST00000370640.5	protein_coding		1687		chr10	TogoVar
C19orf38_chr19_10843415_10874790	10871601	GGCGGCGG others(32): Show GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	377	0.0027	-39	c.22 others(50): Show c.2235_*2273delGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCA	C19orf38	ENSG00000214212.9	transcript	ENST00000397820.5	protein_coding		1812		chr19	TogoVar
C19orf53_chr19_13769456_13783773	13780209	CGTCTCTA others(32): Show CGTCTCTATTAAAAACACAAAAATTAGGCCAGGTGTGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	427	0.0023	-39	c.20 others(50): Show c.2012_*2050delGTCTCTATTAAAAACACAAAAATTAGGCCAGGTG TGGTG	C19orf53	ENSG00000104979.9	transcript	ENST00000588234.6	protein_coding		1437		chr19	TogoVar
C1QL1_chr17_44954693_44973303	44968309	CCGCGGCC others(32): Show CCGCGGCCGCCGCCTCCCGCCTCCCGCCTCCCGCCTGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	406	0.0025	-39	c.-30 others(48): Show c.-300_-262delCTGCAGGCGGGAGGCGGGAGGCGGGAGGCGGCGGCC GCG	C1QL1	ENSG00000131094.4	transcript	ENST00000253407.4	protein_coding		7		chr17	TogoVar
C1QTNF9_chr13_24304580_24327531	24324462	CACCAAAT others(32): Show CACCAAATCTTCTACAGTAATTATAAGGAAACAATGGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	464	0.0022	-39	c.26 others(50): Show c.2695_*2733delACCAAATCTTCTACAGTAATTATAAGGAAACAAT GGACT	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		1932		chr13	TogoVar
C1orf100_chr1_244347635_244394663	244386882	CCTCTTAT others(32): Show CCTCTTATAAGCTATGTATACTTGGGCAAATTAATCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	450	0.0022	-39	c.326 others(56): Show c.326-2068_326-2030delCTCTTATAAGCTATGTATACTTGGGCAA ATTAATCTTTT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	4/4			chr1	TogoVar
C1orf162_chr1_111468984_111483512	111476994	AAGTCAGT others(32): Show AAGTCAGTTTGTGATCTCAGGAGTATGGCTCTTAATTTGG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	474	0.0021	-39	c.107 others(54): Show c.107+128_107+166delAGTCAGTTTGTGATCTCAGGAGTATGGCTC TTAATTTGG	C1orf162	ENSG00000143110.12	transcript	ENST00000369718.4	protein_coding	3/5			chr1	TogoVar
C2orf16_chr2_27532386_27587722	27557878	CCCCCTCC others(32): Show CCCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00642.hp2 others(23): Show HG00544.hp1 HG00544.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01106.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01261.hp2 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG02074.hp1 HG02155.hp1 HG02165.hp2 HG02886.hp1 HG02922.hp1 NA18944.hp1 NA18966.hp2 NA18979.hp2 NA19007.hp2 NA19009.hp2 NA19066.hp1 NA19066.hp2 NA19078.hp1	a0001 a0004 a0009 others(2): Show a0001 a0004 a0009 a0017 a0028	a0001c0001 a0004c0004 a0009c0018 others(2): Show a0001c0001 a0004c0004 a0009c0018 a0017c0025 a0028c0052	a0001c0001t0001 a0004c0004t0001 a0009c0018t0001 others(2): Show a0001c0001t0001 a0004c0004t0001 a0009c0018t0001 a0017c0025t0001 a0028c0052t0001	a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0062 others(23): Show a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0158 a0004c0004t0001g0007 a0004c0004t0001g0012 a0004c0004t0001g0133 a0009c0018t0001g0121 a0017c0025t0001g0067 a0028c0052t0001g0105	26	324	0.0802	-39	c.145 others(56): Show c.145-7454_145-7416delTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C3_chr19_6672704_6725650	6700525	AATATGAT others(32): Show AATATGATATATTATATATGTAATATATAATATATGTAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0237 a0001c0029t0001g0237	1	314	0.0032	-39	c.244 others(58): Show c.2440+1563_2440+1601delATTACATATATTATATATTACATATA TAATATATCATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar

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