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
CSF2RA_chrX_1263814_1314935	1297637	TCTCCTAC others(38): Show TCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTACTCAC	T T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	157	0.0064	-45	c.810 others(62): Show c.810+2182_810+2226delCTCCTACTCATGACCCCTGGAGTAACCC TACAGTCCCCTACTCAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12			chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1297738	AGGAGCCG others(38): Show AGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0009 a0007c0014t0009	a0007c0014t0009g0017 a0007c0014t0009g0017	1	157	0.0064	-45	c.810 others(62): Show c.810+2286_810+2330delGCCGTAGTGTGACCCTACAATCCCCTAC TCACAACCCCCGGTGGA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298068	AGGAGCCG others(38): Show AGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp2 HG03453.hp2 HG01884.hp1 HG02886.hp2 HG03453.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0007c0014 a0001c0001 a0002c0003 a0007c0014	a0001c0001t0002 a0002c0003t0001 a0007c0014t0009 a0001c0001t0002 a0002c0003t0001 a0007c0014t0009	a0001c0001t0002g0033 a0002c0003t0001g0003 a0007c0014t0009g0017 a0001c0001t0002g0033 a0002c0003t0001g0003 a0007c0014t0009g0017	3	157	0.0191	-45	c.811 others(62): Show c.811-2419_811-2375delGCCGTAGTGTGACCCTACAATCCCCTAC TCACAACCCCCGGTGGA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	4920897	AAAAGAAA others(38): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01123.hp2 HG02074.hp1 others(8): Show HG00438.hp1 HG01123.hp2 HG02074.hp1 HG02451.hp2 HG02683.hp1 HG02683.hp2 HG02965.hp2 HG03225.hp1 HG04204.hp2 NA18995.hp1 NA19060.hp2	a0001 a0002 a0016 others(1): Show a0001 a0002 a0016 a0025	a0001c0001 a0001c0003 a0001c0017 others(8): Show a0001c0001 a0001c0003 a0001c0017 a0001c0021 a0001c0079 a0001c0094 a0001c0109 a0002c0037 a0002c0048 a0016c0028 a0025c0066	a0001c0001t0002 a0001c0003t0008 a0001c0017t0005 others(8): Show a0001c0001t0002 a0001c0003t0008 a0001c0017t0005 a0001c0021t0005 a0001c0079t0070 a0001c0094t0002 a0001c0109t0037 a0002c0037t0009 a0002c0048t0011 a0016c0028t0024 a0025c0066t0010	a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0017t0005g0003 others(8): Show a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0017t0005g0003 a0001c0021t0005g0012 a0001c0079t0070g0113 a0001c0094t0002g0110 a0001c0109t0037g0013 a0002c0037t0009g0046 a0002c0048t0011g0015 a0016c0028t0024g0040 a0025c0066t0010g0032	11	109	0.1009	-45	c.85+ others(62): Show c.85+73390_85+73434delCTTTCTTTCTCTCTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112494461	CCTTTCTC others(38): Show CCTTTCTCTTTCTTTTCTTTTGTTTCTTTCTCTCCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG03688.hp1 HG00741.hp2 HG01074.hp2 HG03688.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0003 a0003c0002 a0009c0034 a0002c0003 a0003c0002 a0009c0034	a0002c0003t0002 a0003c0002t0001 a0009c0034t0002 a0002c0003t0002 a0003c0002t0001 a0009c0034t0002	a0002c0003t0002g0006 a0003c0002t0001g0075 a0009c0034t0002g0011 a0002c0003t0002g0006 a0003c0002t0001g0075 a0009c0034t0002g0011	3	71	0.0423	-45	c.508 others(64): Show c.5084-1823_5084-1779delAAAGAAAGAAAGGAGAGAAAGAAACA AAAGAAAAGAAAGAGAAAG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	30/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542645	TATATATA others(38): Show TATATATATATATATATATATATATATGTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	385	0.0026	-45	c.230 others(62): Show c.230+7385_230+7429delTATATATATATATATATACATATATATA TATATATATATATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542648	ATATATAT others(38): Show ATATATATATATATATATATATATGTATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03927.hp2 NA18940.hp1 others(1): Show HG01496.hp2 HG03927.hp2 NA18940.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0017g0014	4	383	0.0104	-45	c.230 others(62): Show c.230+7382_230+7426delATATATATATATATATATATACATATAT ATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CTAG1B_chrX_154612609_154624282	154621742	GGGAGGCC others(38): Show GGGAGGCCTCAGGAAAGTTACAATCATAGCGGAAGGCAAAGAGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	254	0.0039	-45	c.-25 others(56): Show c.-2569_-2525delTTCCTCTTTGCCTTCCGCTATGATTGTAACTTTC CTGAGGCCTCC	CTAG1B	ENSG00000184033.14	transcript	ENST00000328435.3	protein_coding		2461		chrX	TogoVar
CTBP1_chr4_1206445_1254130	1207524	TGCCGCGC others(38): Show TGCCGCGCTTACACATGCTCCAGAGGGTCCGGCTGCCTAACCATGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(77): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01255.hp1 HG01891.hp1 HG01975.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02155.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18947.hp2 NA18951.hp1 NA18971.hp2 NA18978.hp2 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA19003.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0004t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0057 a0001c0001t0002g0075 a0001c0001t0002g0167 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0137 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0013g0184 a0001c0001t0014g0139 a0001c0001t0021g0336 a0001c0004t0001g0073 a0001c0004t0001g0152 a0001c0009t0001g0331	80	284	0.2817	-45	c.46 others(56): Show c.4671_*4715delGCATGGTTAGGCAGCCGGACCCTCTGGAGCATGT GTAAGCGCGGC	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		3920		chr4	TogoVar
CTBP1_chr4_1206445_1254130	1230163	CAGTGTGG others(38): Show CAGTGTGGACGGGGTGAACCCTGGTGTACCACACTTGACCAGACGT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18966.hp2 HG02132.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0332 a0001c0001t0001g0096 a0001c0001t0001g0332	2	420	0.0048	-45	c.163 others(62): Show c.163-1865_163-1821delACGTCTGGTCAAGTGTGGTACACCAGGG TTCACCCCGTCCACACT	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar
CTBP2_chr10_124979317_125033071	125022456	TGGAAAGA others(38): Show TGGAAAGAAGGAAGAACAGCAGGGGTACAGGTCAATGAGGAAGGAA	T T	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0340 a0004c0008t0006g0340	1	378	0.0026	-45	c.167 others(64): Show c.1678+3581_1678+3625delTTCCTTCCTCATTGACCTGTACCCCT GCTGTTCTTCCTTCTTTCC	CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding	1/8			chr10	TogoVar
CTDP1_chr18_79674803_79759503	79732017	ACTAACAT others(38): Show ACTAACATCAGGAGTGCTCCCAAAATCACATAGACATGAGAACTCG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp2 HG02109.hp2 HG03130.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0005 a0005c0011t0005	a0005c0011t0005g0360 a0005c0011t0005g0361 a0005c0011t0005g0360 a0005c0011t0005g0361	2	376	0.0053	-45	c.258 others(64): Show c.2580+2972_2580+3016delATCACATAGACATGAGAACTCGCTAA CATCAGGAGTGCTCCCAAA	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYLC2_chr9_102990333_103023488	103014685	TATGTAAT others(38): Show TATGTAATATACGTATGTATATTATGCAATATACATATGTAATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp1 HG00735.hp2 others(39): Show HG00438.hp1 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01257.hp2 HG01934.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp1 HG02738.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03491.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 NA18612.hp2 NA18944.hp2 NA18954.hp1 NA18960.hp2 NA18977.hp2 NA18980.hp1 NA18988.hp2 NA18997.hp2 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19080.hp2 NA19082.hp2 NA19090.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0014c0015 a0001c0001 a0002c0002 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0041 a0002c0002t0030 a0014c0015t0001	a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 others(28): Show a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0002g0003 a0001c0001t0002g0041 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0007g0090 a0001c0001t0012g0010 a0001c0001t0012g0166 a0001c0001t0016g0144 a0001c0001t0041g0030 a0002c0002t0030g0227 a0014c0015t0001g0089	42	444	0.0946	-45	c.81 others(64): Show c.817-2202_*817-2158delATGTAATATACGTATGTATATTATGC AATATACATATGTAATATA	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7			chr9	TogoVar
CYP20A1_chr2_203234018_203311026	203284447	TGTTTTTT others(38): Show TGTTTTTTTCTCAACATGTAATTTCTTTACATTTTCATTTCTTCTG	T T	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	332	0.0030	-45	c.851 others(62): Show c.851-1124_851-1080delTTCTGGTTTTTTTCTCAACATGTAATTT CTTTACATTTTCATTTC	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP4F11_chr19_15907377_15939529	15929741	CGGTGTAT others(38): Show CGGTGTATTTCCAGAAGAGATTCACATTTGAATAGGTAAACTGAGG	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0229 a0001c0002t0015g0229	1	384	0.0026	-45	c.199 others(60): Show c.199-185_199-141delCCTCAGTTTACCTATTCAAATGTGAATCTC TTCTGGAAATACACC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15668994	CCAATTCT others(38): Show CCAATTCTCTCCAGTGAGATGTAATAGTCTGTAGACTTACAACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	408	0.0025	-45	c.-41 others(56): Show c.-4142_-4098delCAATTCTCTCCAGTGAGATGTAATAGTCTGTAGA CTTACAACACA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding		4092		chr19	TogoVar
DAAM1_chr14_59183667_59376403	59366103	CACTGGGG others(38): Show CACTGGGGCATGGTGGCATGTACCTATAGTCCCAGCTACTCAGGAG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01433.hp2 others(12): Show HG01257.hp1 HG01258.hp2 HG01433.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG03130.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp1 HG06807.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0010 a0001c0001 a0001c0003 a0004c0010	a0001c0001t0003 a0001c0001t0027 a0001c0001t0044 others(2): Show a0001c0001t0003 a0001c0001t0027 a0001c0001t0044 a0001c0003t0003 a0004c0010t0003	a0001c0001t0003g0002 a0001c0001t0003g0182 a0001c0001t0003g0183 others(11): Show a0001c0001t0003g0002 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0276 a0001c0001t0027g0181 a0001c0001t0027g0187 a0001c0001t0044g0186 a0001c0003t0003g0024 a0001c0003t0003g0025 a0004c0010t0003g0271	15	296	0.0507	-45	c.282 others(64): Show c.2827-1325_2827-1281delACTGGGGCATGGTGGCATGTACCTAT AGTCCCAGCTACTCAGGAG	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	23/24			chr14	TogoVar
DAB2IP_chr9_121646634_121790530	121668247	CAGTGGCA others(38): Show CAGTGGCACGATCTCCACTCACTGCAACCTCTGCCTCCCGGGTTCA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02129.hp2 HG02145.hp2 others(1): Show HG02040.hp1 HG02129.hp2 HG02145.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0013t0012 a0001c0001t0001 a0001c0001t0002 a0001c0013t0012	a0001c0001t0001g0194 a0001c0001t0002g0102 a0001c0001t0002g0166 others(1): Show a0001c0001t0001g0194 a0001c0001t0002g0102 a0001c0001t0002g0166 a0001c0013t0012g0193	4	218	0.0183	-45	c.125 others(64): Show c.125-10381_125-10337delGCACGATCTCCACTCACTGCAACCTC TGCCTCCCGGGTTCAAGTG	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
DACH1_chr13_71432966_71872204	71654413	ATAAAATA others(38): Show ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02109.hp2 HG02145.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0004 a0005c0008t0002 a0002c0002t0004 a0005c0008t0002	a0002c0002t0004g0060 a0005c0008t0002g0098 a0002c0002t0004g0060 a0005c0008t0002g0098	2	100	0.0200	-45	c.965 others(64): Show c.965-23741_965-23697delCTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	2/10			chr13	TogoVar
DACT2_chr6_168301904_168324777	168321862	TCTCCTTC others(38): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02630.hp2 HG02922.hp2 others(1): Show HG01099.hp2 HG02630.hp2 HG02922.hp2 HG03486.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0004 a0004c0006t0003 a0002c0002t0004 a0004c0006t0003	a0002c0002t0004g0126 a0004c0006t0003g0011 a0004c0006t0003g0122 others(1): Show a0002c0002t0004g0126 a0004c0006t0003g0011 a0004c0006t0003g0122 a0004c0006t0003g0124	4	452	0.0088	-45	c.-22 others(56): Show c.-2274_-2230delGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2086		chr6	TogoVar
DAPL1_chr2_158790317_158820990	158791948	TTTCTTTC others(38): Show TTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	358	0.0028	-45	c.-34 others(56): Show c.-3424_-3380delTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTC	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding		3368		chr2	TogoVar
DBH_chr9_133631363_133664329	133646636	GCCTCAGC others(38): Show GCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCGTGCCACCACA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02027.hp2 HG02451.hp1 others(12): Show HG01433.hp1 HG02027.hp2 HG02451.hp1 HG02451.hp2 HG02922.hp1 HG02970.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18941.hp2	a0003 a0004 a0003 a0004	a0003c0011 a0003c0019 a0003c0026 others(2): Show a0003c0011 a0003c0019 a0003c0026 a0004c0010 a0004c0012	a0003c0011t0002 a0003c0011t0003 a0003c0019t0002 others(4): Show a0003c0011t0002 a0003c0011t0003 a0003c0019t0002 a0003c0026t0002 a0004c0010t0001 a0004c0010t0003 a0004c0012t0002	a0003c0011t0002g0022 a0003c0011t0002g0096 a0003c0011t0002g0099 others(11): Show a0003c0011t0002g0022 a0003c0011t0002g0096 a0003c0011t0002g0099 a0003c0011t0003g0098 a0003c0019t0002g0095 a0003c0019t0002g0097 a0003c0026t0002g0212 a0004c0010t0001g0071 a0004c0010t0001g0090 a0004c0010t0001g0101 a0004c0010t0001g0113 a0004c0010t0003g0100 a0004c0012t0002g0069 a0004c0012t0002g0070	15	400	0.0375	-45	c.102 others(64): Show c.1025-1206_1025-1162delCAGCCTCCTGAGTAGCTGGGATTATA GGTGCGTGCCACCACACCT	DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCC_chr18_52335197_53540899	53086039	TCTCCCTC others(38): Show TCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01496.hp2 NA18948.hp1 others(1): Show HG01255.hp2 HG01496.hp2 NA18948.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0035 a0001c0002t0001 a0002c0001t0001 a0002c0001t0035	a0001c0002t0001g0060 a0001c0002t0001g0066 a0002c0001t0001g0054 others(1): Show a0001c0002t0001g0060 a0001c0002t0001g0066 a0002c0001t0001g0054 a0002c0001t0035g0085	4	109	0.0367	-45	c.126 others(66): Show c.1261+19878_1261+19922delCTCTCCTTCTCCTTCTCCTTCTCC CTCTCCTCCTCCTCCTCCTCC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53351338	TATATATA others(38): Show TATATATATATACACAGTATATATATATACTGTATATATATATACA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01496.hp2 HG01255.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0060 a0001c0002t0001g0066	2	114	0.0175	-45	c.235 others(66): Show c.2359+11432_2359+11476delATATATATATACACAGTATATATA TATACTGTATATATATATACA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	15/28			chr18	TogoVar
DEF8_chr16_89943755_89973060	89948839	TCGGGGCC others(38): Show TCGGGGCCGGCGGGGACGGGGCCGGCGGGGACGGGGCCGGCGGGGA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01081.hp1 others(2): Show HG00642.hp2 HG00738.hp1 HG01081.hp1 HG01433.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	5	305	0.0164	-45	c.-10 others(60): Show c.-108+31_-108+75delCCGGCGGGGACGGGGCCGGCGGGGACGGGG CCGGCGGGGACGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948865	GGGGACGG others(38): Show GGGGACGGGGCCGGCGGGGACGGGGTCGGCGGGGTCGGGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp2 HG03471.hp1 others(1): Show HG01261.hp1 HG01358.hp2 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0008	a0001c0001t0001g0002 a0001c0003t0008g0039 a0001c0003t0008g0146 a0001c0001t0001g0002 a0001c0003t0008g0039 a0001c0003t0008g0146	4	344	0.0116	-45	c.-10 others(61): Show c.-108+85_-108+129delTCGGGGCTGGGAGGGACGGGGCCGGCGGG GACGGGGTCGGCGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948899	TCGGGGCT others(38): Show TCGGGGCTGGGAGGGACGGGGCCGGCGGGGACGGGGTCGGCGGGGA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02572.hp1 HG02630.hp1 others(2): Show HG01256.hp2 HG02572.hp1 HG02630.hp1 HG02922.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0106 a0001c0001t0004g0120 a0001c0001t0001g0006 a0001c0001t0001g0106 a0001c0001t0004g0120	5	315	0.0159	-45	c.-10 others(62): Show c.-108+121_-108+165delTCGGCGGGGACGGGGCTGGGAGGGACGG GGCCGGCGGGGACGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89949064	ACGGGGCC others(38): Show ACGGGGCCGGCGGGGACGGGGCCGGCGGGGACGGGGCCGGCGAGGT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	376	0.0027	-45	c.-10 others(62): Show c.-108+272_-107-287delCGGCGGGGACGGGGCCGGCGAGGTCGGG GCCGGCGGGGACGGGGC	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFA1_chr8_6972649_6985092	6974223	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA18975.hp2 HG00408.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0009 a0001c0001t0001g0022	2	408	0.0049	-45	c.35 others(56): Show c.3502_*3546delAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAA	DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding		3425		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313660	GCCGCGCC others(38): Show GCCGCGCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 NA19065.hp1 HG02486.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0004 a0001c0001t0003g0005 a0001c0001t0002g0004 a0001c0001t0003g0005	2	300	0.0067	-45	c.28 others(56): Show c.2849_*2893delGCGCGGGGAGGCGGGGAGGCGGGGCGGGGAGGCG GGGCGGCGCGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		923		chr8	TogoVar
DGKB_chr7_14140049_14907751	14211981	TATTTACT others(38): Show TATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	116	0.0086	-45	c.212 others(66): Show c.2123-33875_2123-33831delTATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14868100	GTCCATGT others(38): Show GTCCATGTAACTAGACCTTCTTCTTCTGGCTCTGATGTAACCAAGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0055	1	146	0.0068	-45	c.-18 others(66): Show c.-187-26695_-187-26651delTCTTGGTTACATCAGAGCCAGAAG AAGAAGGTCTAGTTACATGGA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233397358	GCAGAGTG others(38): Show GCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02083.hp1 NA18964.hp1 others(4): Show HG00621.hp2 HG02083.hp1 NA18964.hp1 NA18970.hp1 NA18998.hp1 NA19002.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0007 a0001c0001t0002 a0001c0003t0007	a0001c0001t0002g0006 a0001c0001t0002g0041 a0001c0001t0002g0042 others(4): Show a0001c0001t0002g0006 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0053 a0001c0003t0007g0082 a0001c0003t0007g0084	7	316	0.0222	-45	c.348 others(62): Show c.348+6935_348+6979delTCCAGAGGGGACCAGGGTGGCTGGCAGA GGCCAGAGTGAGAGGAC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKH_chr13_42043648_42247896	42049052	CGGGAAGG others(38): Show CGGGAAGGCGGGGAAGGCGGGGAAGGCGGGGAAGGCGGGGAAGGCG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02976.hp1 HG03195.hp2 HG02622.hp2 HG02976.hp1 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0050 a0001c0003t0119 a0001c0004t0122 a0001c0003t0050 a0001c0003t0119 a0001c0004t0122	a0001c0003t0050g0311 a0001c0003t0119g0310 a0001c0004t0122g0312 a0001c0003t0050g0311 a0001c0003t0119g0310 a0001c0004t0122g0312	3	25	0.1200	-45	c.192 others(60): Show c.192+128_192+172delAGGCGGGGAAGGCGGGGAAGGCGGGGAAGG CGGGGAAGGCGGGGA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DHDH_chr19_48928699_48949969	48930515	ATATATAT others(38): Show ATATATATATTATATATATATATTTTTTTTTTTAGACCGGGTCTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG02145.hp2 others(9): Show HG00735.hp1 HG01070.hp1 HG02145.hp2 HG02257.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 NA18522.hp2 NA19240.hp1	a0003 a0005 a0016 a0003 a0005 a0016	a0003c0007 a0005c0006 a0016c0020 a0003c0007 a0005c0006 a0016c0020	a0003c0007t0001 a0005c0006t0001 a0016c0020t0001 a0003c0007t0001 a0005c0006t0001 a0016c0020t0001	a0003c0007t0001g0067 a0003c0007t0001g0091 a0005c0006t0001g0006 others(6): Show a0003c0007t0001g0067 a0003c0007t0001g0091 a0005c0006t0001g0006 a0005c0006t0001g0037 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0084 a0005c0006t0001g0085 a0016c0020t0001g0037	12	434	0.0276	-45	c.-32 others(56): Show c.-3206_-3162delTATATATATTATATATATATATTTTTTTTTTTAG ACCGGGTCTTC	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding		3183		chr19	TogoVar
DHRS12_chr13_51762993_51809163	51774973	AGTATTCT others(38): Show AGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG01255.hp2 others(15): Show HG01106.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02148.hp1 HG02293.hp1 HG02698.hp1 HG03453.hp2 HG03486.hp1 HG04184.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0013 a0002c0002t0003g0025 a0002c0002t0003g0051 others(11): Show a0002c0002t0003g0013 a0002c0002t0003g0025 a0002c0002t0003g0051 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0003g0150 a0002c0002t0003g0165 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0218 a0002c0002t0003g0246 a0002c0002t0003g0306	18	400	0.0450	-45	c.364 others(60): Show c.364-984_364-940delGTAGGAGAATACATGTACTGTAGGAGAATA CATGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS9_chr2_169064563_169101167	169091224	TATAAAAT others(38): Show TATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0262 a0001c0002t0002g0262	1	48	0.0208	-45	c.573 others(60): Show c.573-534_573-490delTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2485648	GGAGGGAG others(38): Show GGAGGGAGGGATGGGGGAAGGAGGGAGGGGAGGAAAGGGAGGCAGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0032 a0005c0008t0006g0032	1	48	0.0208	-45	c.109 others(64): Show c.109+15124_109+15168delTCTGCCTCCCTTTCCTCCCCTCCCTC CTTCCCCCATCCCTCCCTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97369451	ATATTACC others(38): Show ATATTACCTAGTGGCGTGAGGTTAATTTAAGGACCACCATGACCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(48): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG03017.hp1 HG03139.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG04199.hp1 HG04204.hp1 NA18940.hp1 NA18945.hp1 NA18948.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18994.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19070.hp1 NA19091.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0005t0001 a0001c0007t0005	a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0031 others(48): Show a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0091 a0001c0001t0002g0112 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0005g0038 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0008g0040 a0001c0001t0008g0108 a0001c0001t0010g0034 a0001c0001t0010g0104 a0001c0001t0013g0013 a0001c0001t0017g0106 a0001c0001t0022g0071 a0001c0005t0001g0060 a0001c0007t0005g0122	51	147	0.3469	-45	c.301 others(66): Show c.3010-14455_3010-14411delTTACCTAGTGGCGTGAGGTTAATT TAAGGACCACCATGACCACTA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	24/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2B_chr12_50499985_50753657	50579637	AAAAAAAA others(38): Show AAAAAAAAATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	281	0.0036	-45	c.101 others(64): Show c.101-46337_101-46293delAAAAAAATATATATATATATATATAT ATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579645	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG00621.hp2 others(5): Show HG00544.hp1 HG00621.hp1 HG00621.hp2 HG01261.hp1 HG02074.hp2 HG02083.hp2 NA19000.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0024 a0001c0001t0001g0059 a0001c0003t0002g0031 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0059 a0001c0003t0002g0031 a0001c0003t0002g0049 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0058 a0001c0003t0002g0069	8	240	0.0333	-45	c.101 others(64): Show c.101-46330_101-46286delTATATATATATATATATATATATATA TATATATATATATATATAT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37			chr12	TogoVar
DIP2C_chr10_269201_694668	666590	GGCCCGTG others(38): Show GGCCCGTGGCCTGTCTGCCCGTGGCCTGTCTGCCCGTGGCCTGTCT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0084 a0001c0002t0003g0084	1	17	0.0588	-45	c.85+ others(62): Show c.85+22859_85+22903delAGACAGGCCACGGGCAGACAGGCCACGG GCAGACAGGCCACGGGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1C_chr18_74429775_74462308	74460710	TTCGTCTG others(38): Show TTCGTCTGCTGTGATCTCCCAGCCATGTTCATTTTTCTGTAATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	482	0.0021	-45	c.-34 others(56): Show c.-3496_-3452delTTTATTACAGAAAAATGAACATGGCTGGGAGATC ACAGCAGACGA	DIPK1C	ENSG00000187773.9	transcript	ENST00000343998.8	protein_coding		3403		chr18	TogoVar
DISC1_chr1_231621790_232046272	231797990	ACAAAACT others(38): Show ACAAAACTGTCCAGTCACACAAAACACCTTTCTCTGTACTTTAAAC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	38	0.0263	-45	c.169 others(64): Show c.1690-2117_1690-2073delCAAAACTGTCCAGTCACACAAAACAC CTTTCTCTGTACTTTAAAC	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	7/12			chr1	TogoVar
DLGAP1_chr18_3491032_4460307	3728322	ATATATAC others(38): Show ATATATACATGTTTCATATGCACGCATTGTCATATATAGCCCACGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0034 a0001c0002t0024g0034	1	80	0.0125	-45	c.159 others(62): Show c.1591+768_1591+812delCCGTGGGCTATATATGACAATGCGTGCA TATGAAACATGTATATA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	802065	CCCTCCTG others(38): Show CCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02258.hp2 HG02818.hp2 others(3): Show HG02074.hp1 HG02258.hp2 HG02818.hp2 HG02976.hp2 HG03710.hp2 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0006 a0004c0008	a0001c0002t0001 a0001c0002t0010 a0001c0003t0006 others(3): Show a0001c0002t0001 a0001c0002t0010 a0001c0003t0006 a0002c0001t0020 a0002c0006t0021 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0010g0008 a0001c0003t0006g0033 others(3): Show a0001c0002t0001g0015 a0001c0002t0010g0008 a0001c0003t0006g0033 a0002c0001t0020g0024 a0002c0006t0021g0014 a0004c0008t0016g0028	6	22	0.2727	-45	c.18+ others(62): Show c.18+64281_18+64325delACACACCTCCTGGGCCCTCCGTCCTCAC GGCCTGGGGAATGGTCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1215405	AGGGTGCA others(38): Show AGGGTGCATCACCTGGAGACGTCCAGGTACCTGGATGGGTTCATTT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02818.hp2 HG02976.hp1 others(2): Show HG02071.hp1 HG02818.hp2 HG02976.hp1 HG03486.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0004 others(1): Show a0001c0002 a0002c0001 a0002c0004 a0002c0006	a0001c0002t0006 a0002c0001t0002 a0002c0001t0005 others(2): Show a0001c0002t0006 a0002c0001t0002 a0002c0001t0005 a0002c0004t0026 a0002c0006t0021	a0001c0002t0006g0011 a0002c0001t0002g0032 a0002c0001t0005g0035 others(2): Show a0001c0002t0006g0011 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0004t0026g0016 a0002c0006t0021g0014	5	22	0.2273	-45	c.74- others(62): Show c.74-43099_74-43055delGGATGGGTTCATTTGGGTGCATCACCTG GAGACGTCCAGGTACCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1405924	CCTCCTTG others(38): Show CCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03486.hp2 HG01361.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0023 a0001c0009t0012 a0001c0002t0023 a0001c0009t0012	a0001c0002t0023g0005 a0001c0009t0012g0006 a0001c0002t0023g0005 a0001c0009t0012g0006	2	40	0.0500	-45	c.107 others(64): Show c.107-95395_107-95351delTCCTTGTCCTCCGGAGTCGTGTATTG AGTGCTTACTGAGCGCCAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMPK_chr19_45764717_45787490	45770204	CCAGCAGC others(38): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(92): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03490.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18747.hp2 NA18947.hp1 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19030.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19082.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0007 a0001c0010 others(2): Show a0001c0001 a0001c0007 a0001c0010 a0001c0016 a0009c0018	a0001c0001t0001 a0001c0001t0014 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0007t0001 a0001c0010t0001 a0001c0016t0001 a0009c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0017 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0014g0095 a0001c0007t0001g0037 a0001c0007t0001g0102 a0001c0010t0001g0092 a0001c0010t0001g0106 a0001c0016t0001g0101 a0009c0018t0001g0103	95	100	0.9500	-45	c.23 others(54): Show c.239_*283delCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTG	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	15/15	239		chr19	TogoVar
DNAAF5_chr7_721699_791475	756074	CGGTGCAG others(38): Show CGGTGCAGAGGGGCTGGTGTGTGTGTGATCCACTGTGGAATCCCAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0318 a0001c0001t0003g0318	1	376	0.0027	-45	c.125 others(62): Show c.1258-677_1258-633delACTGTGGAATCCCATGGTGCAGAGGGGC TGGTGTGTGTGTGATCC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar

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