Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
CAMKK2_chr12_121232692_121301709	121300989	CTTTTTTT others(121): Show CTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGCTGCCTGGTCTC ACAGTTGCAATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGGTTTGCTCT TGCTGCCTGGTCTCACAGTTGCAATTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0017 a0001c0011t0017	a0001c0011t0017g0325 a0001c0011t0017g0325	1	330	0.0030	-128	c.-45 others(11): Show c.-4539_-4412del		CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding				4281		chr12	TogoVar
CBFA2T2_chr20_33485096_33655030	33536230	ATCCCAGT others(121): Show ATCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCATCTCCCAGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG02523.hp2 others(1): Show HG00735.hp1 HG01070.hp1 HG02523.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0187 others(1): Show a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0187 a0001c0002t0002g0204	4	298	0.0134	-128	c.34+ others(17): Show c.34+45965_34+46092del		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10				INFO_REALIGN_3_PRIME	chr20	TogoVar
CCDC126_chr7_23592382_23649708	23637270	CGCCCCGG others(121): Show CGCCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC CGCCTGGCCAGCCGCCCCTTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00673.hp2 others(7): Show HG00597.hp2 HG00621.hp1 HG00673.hp2 HG02080.hp2 NA18950.hp2 NA18972.hp1 NA18975.hp1 NA18995.hp2 NA19000.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0233 a0001c0001t0002g0234 others(7): Show a0001c0001t0002g0205 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0300	10	380	0.0263	-128	c.239 others(17): Show c.239-5656_239-5529del		CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC87_chr11_66585176_66598063	66588055	ATCTGGGA others(121): Show ATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCA TCCGGGAGGTGAGGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGTCGCCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02976.hp1 HG03579.hp2 others(1): Show HG02723.hp1 HG02976.hp1 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	386	0.0104	-128	c.22 others(11): Show c.2283_*2410del		CCDC87	ENSG00000182791.5	transcript	ENST00000333861.5	protein_coding				2120		chr11	TogoVar
CCKAR_chr4_26476396_26495484	26492587	CTTCCTTC others(121): Show CTTCCTTCCTTCCTTTCCTTTCTTCCCTCCCTTCCTCCTTTCTTTCTCTC TCTCTTTCTTTCCTTTCTTCCCTCCCTCCCTCCTTTCTTTTTCTCTTTCT TTCTTTCTCTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	454	0.0022	-128	c.-24 others(11): Show c.-2448_-2321del		CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding				2104		chr4	TogoVar
CDCP1_chr3_45077277_45151378	45108803	ATATGCAT others(121): Show ATATGCATGTATACATATATATGCATGTATATATATATATGCATGTATAC ATATATATGCATGTATATATATATATGCATGTATACATATATATATATAT GCATGTATACATATATATATATATGCATG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG03139.hp1 HG02630.hp2 HG02717.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0042 a0002c0002t0014 a0001c0001t0042 a0002c0002t0014	a0001c0001t0042g0256 a0002c0002t0014g0004 a0002c0002t0014g0005 a0001c0001t0042g0256 a0002c0002t0014g0004 a0002c0002t0014g0005	3	384	0.0078	-128	c.102 others(19): Show c.1024+1542_1024+1669del		CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8					chr3	TogoVar
CDH7_chr18_65746012_65895337	65782016	CTCTCTCT others(121): Show CTCTCTCTTTCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG06807.hp2 HG01891.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0008 a0002c0002t0096 a0001c0008t0008 a0002c0002t0096	a0001c0008t0008g0151 a0002c0002t0096g0150 a0001c0008t0008g0151 a0002c0002t0096g0150	2	208	0.0096	-128	c.210 others(19): Show c.210+18968_210+19095del		CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
CHML_chr1_241623851_241645369	241623987	TCCACGCC others(121): Show TCCACGCCAGGCCAGGCACTCTATGCTCCAGGCACTGTGGACCCTCTTCC ACCTGTCCTGCCTCTCCATGCCAGGCCAGGCACTCTATGCTCCAGGCACT GTGGACCCTCTTCCACCTGTCCTGCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	452	0.0022	-128	c.96 others(11): Show c.9681_*9808del		CHML	ENSG00000203668.3	transcript	ENST00000366553.3	protein_coding				4863		chr1	TogoVar
CLCN6_chr1_11801191_11848130	11829633	CCTGGCGT others(121): Show CCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGG AACCTGGGAACAACCCTGGCATCACAGAGGGGAACCTGGGAACGACCCTG GCGTCACAGAGGGGAACCTGGGAACGACA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02258.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	2	290	0.0069	-128	c.124 others(17): Show c.1248+349_1248+476del		CLCN6	ENSG00000011021.23	transcript	ENST00000346436.11	protein_coding	13/22				INFO_REALIGN_3_PRIME	chr1	TogoVar
CLDN4_chr7_73825996_73837690	73836530	TGGGGGGG others(121): Show TGGGGGGGTCAGCCCCCTGCCCGGCCAGCCCCCCCATCCGGGAAGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAGGTGGGGAGCCCCTCTGCCT GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02109.hp1 HG02486.hp2 others(1): Show HG00735.hp2 HG02109.hp1 HG02486.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	4	372	0.0108	-128	c.47 others(11): Show c.4700_*4827del		CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding				3841		chr7	TogoVar
CNGA1_chr4_47930977_48021681	47976153	ATATATAT others(121): Show ATATATATATATATATATACACATACATATATATATACATATATATGTAT ATATATATATACACATACATATATATATACATATATATGTATATATATAT ACACATACATATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01891.hp2 HG02257.hp1 others(10): Show HG00642.hp2 HG01891.hp2 HG02257.hp1 HG02559.hp2 HG02622.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0014 a0001c0001t0001g0297 a0001c0001t0003g0086 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0297 a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0003t0001g0338 a0001c0003t0003g0075 a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092	13	366	0.0355	-128	c.-15 others(17): Show c.-15+5112_-15+5239del		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10					chr4	TogoVar
CNTNAP2_chr7_146111801_148425998	146823091	ATATACTC others(121): Show ATATACTCATTCTTCAGCATATTTACATGGAAATATACTCATTCTTCAGC ATATTTACATGGAAATATACTCATTCTTCAGCATATTTACATGGAAATAT ACTCATTCTTCAGTATATTTAAATATGAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02486.hp1 others(6): Show HG00735.hp2 HG01891.hp2 HG02486.hp1 HG02976.hp2 HG03098.hp1 HG03540.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0019 a0002c0016	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0002t0010 a0001c0003t0020 a0001c0003t0023 a0001c0013t0003 a0001c0019t0006 a0002c0016t0004	a0001c0001t0001g0003 a0001c0001t0006g0009 a0001c0001t0007g0020 others(6): Show a0001c0001t0001g0003 a0001c0001t0006g0009 a0001c0001t0007g0020 a0001c0002t0010g0002 a0001c0003t0020g0017 a0001c0003t0023g0030 a0001c0013t0003g0039 a0001c0019t0006g0015 a0002c0016t0004g0024	9	40	0.2250	-128	c.209 others(19): Show c.209-16603_209-16476del		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	2/23				INFO_REALIGN_3_PRIME	chr7	TogoVar
COL18A1_chr21_45400165_45518720	45437738	ACTCACAC others(121): Show ACTCACACACTCAGACACAGGCACTCTCCTGCACACACACACACTCACTC ACACACAGACACACAGGCACTCTCCTGCACACACTCACACTCAGACAAGC ACTCTCCTGCACACACTCACACTCACACT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00621.hp2 others(41): Show HG00423.hp1 HG00609.hp1 HG00621.hp2 HG01346.hp1 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02273.hp2 HG02486.hp2 HG02698.hp2 HG02735.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp2 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18966.hp2 NA18977.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19074.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0010 a0029	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0035 a0001c0041 a0001c0087 a0001c0089 a0001c0090 a0001c0093 a0005c0023 a0006c0036 a0010c0014 a0029c0097	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(13): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0035t0001 a0001c0041t0001 a0001c0087t0001 a0001c0089t0001 a0001c0090t0002 a0001c0093t0001 a0005c0023t0002 a0006c0036t0001 a0010c0014t0001 a0029c0097t0001	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 others(41): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0001g0149 a0001c0002t0002g0111 a0001c0002t0002g0137 a0001c0004t0001g0022 a0001c0004t0001g0032 a0001c0004t0001g0071 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0174 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0222 a0001c0004t0001g0225 a0001c0004t0001g0267 a0001c0004t0001g0271 a0001c0004t0001g0274 a0001c0004t0001g0290 a0001c0005t0002g0070 a0001c0005t0002g0224 a0001c0005t0002g0232 a0001c0005t0002g0239 a0001c0005t0002g0280 a0001c0005t0003g0211 a0001c0005t0006g0173 a0001c0005t0006g0218 a0001c0035t0001g0072 a0001c0035t0001g0073 a0001c0041t0001g0155 a0001c0087t0001g0055 a0001c0089t0001g0119 a0001c0090t0002g0089 a0001c0093t0001g0251 a0005c0023t0002g0138 a0005c0023t0002g0163 a0006c0036t0001g0245 a0006c0036t0001g0292 a0010c0014t0001g0265 a0010c0014t0001g0275 a0010c0014t0001g0279 a0029c0097t0001g0036	44	292	0.1507	-128	c.107 others(19): Show c.107-30502_107-30375del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41				INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45495459	GGTGGCTG others(121): Show GGTGGCTGGGAGACCAGGACCTGGGAATGGCCTGGCCACAGCCTGGGGTC CTGCAGCTCCTCCCAGAGGCCACTTATAAGCAGCCCTGCCATGTGGCCAC ACAGCACTGGTCATGCCATACCCATGCAC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0215 a0001c0006t0003g0215	1	292	0.0034	-128	c.250 others(16): Show c.2508+28_2508+155del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	29/41					chr21	TogoVar
COL4A1_chr13_110143963_110312157	110253311	TTACATAT others(121): Show TTACATATACATATAATTATATGTATTACATATACATATAATTATATGTA TTACATATACATATAATTATATGTATTACATATACATATAATTATATGTA TTACATATACATATAATTATATGTATTAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02280.hp2 others(2): Show HG01891.hp1 HG02258.hp2 HG02280.hp2 HG03098.hp2 HG03139.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0002c0029 a0003c0009 others(2): Show a0002c0004 a0002c0029 a0003c0009 a0003c0038 a0003c0101	a0002c0004t0001 a0002c0029t0003 a0003c0009t0001 others(2): Show a0002c0004t0001 a0002c0029t0003 a0003c0009t0001 a0003c0038t0001 a0003c0101t0001	a0002c0004t0001g0226 a0002c0029t0003g0230 a0003c0009t0001g0229 others(2): Show a0002c0004t0001g0226 a0002c0029t0003g0230 a0003c0009t0001g0229 a0003c0038t0001g0228 a0003c0101t0001g0227	5	344	0.0145	-128	c.85- others(17): Show c.85-10705_85-10578del		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51					chr13	TogoVar
COL4A2_chr13_110302284_110518209	110497737	CAGTCAGG others(121): Show CAGTCAGGGGTGAGGATCTGGGGTCAGTCCAGCAGCACAGCCTCAGTCAG GGGTGAGGATCTGGGGTCAGTCCAGCAGCACAGCCTCAGTCAGGGGTGAG GATCTGGGGTCAGTCCACCAGCACAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00609.hp1 others(30): Show HG00544.hp2 HG00597.hp2 HG00609.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01433.hp2 HG02015.hp2 HG02155.hp2 HG02559.hp1 HG02647.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG04228.hp1 NA18945.hp1 NA18960.hp1 NA18963.hp1 NA18970.hp2 NA18979.hp1 NA18986.hp1 NA18989.hp2 NA19002.hp1 NA19056.hp2 NA19079.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0010 a0013	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0024 a0001c0029 a0001c0106 a0002c0006 a0002c0013 a0002c0017 a0002c0122 a0003c0007 a0004c0012 a0007c0031 a0010c0042 a0013c0088	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0003 a0001c0008t0003 a0001c0024t0003 a0001c0029t0001 a0001c0106t0001 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0006 a0002c0013t0001 a0002c0013t0002 a0002c0017t0002 a0002c0122t0003 a0003c0007t0002 a0004c0012t0001 a0004c0012t0003 a0007c0031t0002 a0007c0031t0009 a0010c0042t0002 a0013c0088t0002	a0001c0001t0001g0363 a0001c0001t0003g0064 a0001c0001t0003g0091 others(30): Show a0001c0001t0001g0363 a0001c0001t0003g0064 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0003g0124 a0001c0002t0003g0079 a0001c0004t0001g0150 a0001c0004t0002g0288 a0001c0004t0002g0359 a0001c0004t0003g0059 a0001c0004t0003g0140 a0001c0005t0003g0103 a0001c0008t0003g0081 a0001c0024t0003g0060 a0001c0029t0001g0161 a0001c0106t0001g0217 a0002c0006t0001g0228 a0002c0006t0001g0258 a0002c0006t0002g0024 a0002c0006t0003g0084 a0002c0006t0006g0090 a0002c0013t0001g0044 a0002c0013t0002g0265 a0002c0017t0002g0300 a0002c0122t0003g0020 a0003c0007t0002g0263 a0004c0012t0001g0199 a0004c0012t0003g0077 a0007c0031t0002g0364 a0007c0031t0009g0042 a0010c0042t0002g0313 a0010c0042t0002g0314 a0013c0088t0002g0160	33	372	0.0887	-128	c.376 others(19): Show c.3760+2271_3760+2398del		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	40/47					chr13	TogoVar
CSTPP1_chr11_46931761_47167247	47097468	CCCTGCCC others(121): Show CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0085 a0001c0005t0001g0085	1	224	0.0045	-128	c.281 others(19): Show c.281-40174_281-40047del		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8				INFO_REALIGN_3_PRIME	chr11	TogoVar
CTNND2_chr5_10966836_11909446	11880610	TACCACTA others(121): Show TACCACTACTACTGCTACTAGTACTACTACTACTACCACTACTACTATCA CCACTACTACTACTCTACCACTACTACTGCTACTAGTACTACCACTACTA CCACTACTACTACCACCACTACTACTACC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG03453.hp2 others(5): Show HG02258.hp1 HG02922.hp2 HG03453.hp2 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0002c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0002t0001g0001 a0001c0003t0001g0007 a0001c0004t0001g0019 a0002c0008t0001g0014	8	26	0.3077	-128	c.37+ others(17): Show c.37+23079_37+23206del		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21					chr5	TogoVar
CTNND2_chr5_10966836_11909446	11880755	GTACTACT others(121): Show GTACTACTACTACTACCACTACTACTATCACCACTACTACTACTCTACCA CTACTACTGCTACTAGTACTACCACTACTACCACTACTACTACCACCACT ACTACTACCACTACTACTGCTACTAGTAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02258.hp2 HG02647.hp2 others(6): Show HG00738.hp1 HG02258.hp2 HG02647.hp2 HG02922.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0001t0001 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0009t0001g0008	9	26	0.3462	-128	c.37+ others(17): Show c.37+22934_37+23061del		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21					chr5	TogoVar
CUL4A_chr13_113204613_113272108	113232147	CATTACTG others(121): Show CATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGCTGCCACCAC TACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATT ACTGCTGCCACCACTACCCGCCCACCACT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0345 a0001c0001t0020g0345	1	396	0.0025	-128	c.513 others(15): Show c.513-998_513-871del		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19				INFO_REALIGN_3_PRIME	chr13	TogoVar
CYTH1_chr17_78669048_78787273	78760379	ATATATAC others(121): Show ATATATACACACACATACATATATATATGTGTATATATATATATATACAC ATACATATATATATGTATATATATATACATACATATATATATGTATATAT ATGTATGTATATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00733.hp1 others(15): Show HG00280.hp1 HG00408.hp2 HG00733.hp1 HG01346.hp2 HG01361.hp2 HG02071.hp1 HG02132.hp2 HG02559.hp2 HG03669.hp1 HG03710.hp1 NA18943.hp1 NA18955.hp1 NA18957.hp1 NA18980.hp1 NA18983.hp1 NA19043.hp2 NA19081.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0032 a0001c0002t0010	a0001c0001t0002g0020 a0001c0001t0002g0245 a0001c0001t0002g0246 others(15): Show a0001c0001t0002g0020 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0289 a0001c0001t0002g0299 a0001c0001t0002g0308 a0001c0001t0002g0313 a0001c0001t0002g0316 a0001c0001t0003g0356 a0001c0001t0008g0264 a0001c0001t0008g0267 a0001c0001t0008g0269 a0001c0001t0008g0291 a0001c0001t0008g0322 a0001c0001t0032g0281 a0001c0002t0010g0358	18	378	0.0476	-128	c.22+ others(17): Show c.22+21695_22+21822del		CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13					chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051720	TGGGTGGG others(121): Show TGGGTGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGC CGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGG CGGGCGGGCGGGGCCGGGAGAGGTTGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00673.hp1 HG01516.hp1 others(7): Show HG00140.hp2 HG00673.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02004.hp2 HG03490.hp1 HG03704.hp1 HG03834.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0013 a0001c0001t0050 others(7): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0050 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0031 a0001c0002t0067	a0001c0001t0005g0187 a0001c0001t0013g0037 a0001c0001t0050g0188 others(7): Show a0001c0001t0005g0187 a0001c0001t0013g0037 a0001c0001t0050g0188 a0001c0002t0001g0012 a0001c0002t0005g0146 a0001c0002t0007g0113 a0001c0002t0009g0203 a0001c0002t0010g0143 a0001c0002t0031g0204 a0001c0002t0067g0205	10	408	0.0245	-128	c.-60 others(9): Show c.-602_-475del		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding				89		chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051763	GCGGGGCC others(121): Show GCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTT GGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGG GGCCGGGAGAGGTTGGGCGGGCGGGCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02922.hp2 NA18964.hp1 others(3): Show HG01934.hp2 HG02922.hp2 NA18964.hp1 NA18974.hp1 NA19087.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0002 a0001c0001t0018 a0001c0001t0024 others(1): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0024 a0005c0008t0002	a0001c0001t0002g0016 a0001c0001t0002g0213 a0001c0001t0002g0233 others(3): Show a0001c0001t0002g0016 a0001c0001t0002g0213 a0001c0001t0002g0233 a0001c0001t0018g0217 a0001c0001t0024g0015 a0005c0008t0002g0220	6	408	0.0147	-128	c.-64 others(9): Show c.-645_-518del		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding				132		chr17	TogoVar
DDX1_chr2_15586868_15636101	15611768	GTGGCTGG others(121): Show GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp1 HG02056.hp2 others(44): Show HG00673.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02135.hp1 HG02602.hp1 HG02717.hp2 HG02970.hp1 HG03209.hp1 HG03453.hp2 HG06807.hp2 NA18522.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp2 NA19062.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19091.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0007 others(1): Show a0001c0004 a0001c0006 a0001c0007 a0001c0012	a0001c0004t0003 a0001c0004t0007 a0001c0006t0004 others(2): Show a0001c0004t0003 a0001c0004t0007 a0001c0006t0004 a0001c0007t0004 a0001c0012t0003	a0001c0004t0003g0002 a0001c0004t0003g0019 a0001c0004t0003g0020 others(25): Show a0001c0004t0003g0002 a0001c0004t0003g0019 a0001c0004t0003g0020 a0001c0004t0003g0021 a0001c0004t0003g0043 a0001c0004t0003g0044 a0001c0004t0003g0045 a0001c0004t0003g0183 a0001c0004t0003g0184 a0001c0004t0003g0186 a0001c0004t0003g0187 a0001c0004t0003g0188 a0001c0004t0003g0189 a0001c0004t0003g0190 a0001c0004t0003g0191 a0001c0004t0003g0192 a0001c0004t0003g0193 a0001c0004t0003g0194 a0001c0004t0003g0195 a0001c0004t0003g0196 a0001c0004t0003g0197 a0001c0004t0003g0198 a0001c0004t0003g0201 a0001c0004t0007g0002 a0001c0006t0004g0199 a0001c0006t0004g0200 a0001c0007t0004g0046 a0001c0012t0003g0002	47	396	0.1187	-128	c.957 others(17): Show c.957-1455_957-1328del		DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25					chr2	TogoVar
DEAF1_chr11_639233_700222	665054	GAGGACAG others(121): Show GAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCA CACCGAGAGGAGGAGGACAGGGTGTCACACTCGGTCACTCTAAGTAAGTC CTGGCTCAGCTATTCACACCGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	345	0.0029	-128	c.150 others(19): Show c.1503+9354_1503+9481del		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11					chr11	TogoVar
DGKB_chr7_14140049_14907751	14211404	ATTTACTC others(121): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0067 a0001c0004t0003g0067	1	148	0.0068	-128	c.212 others(21): Show c.2123-33381_2123-33254del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25					chr7	TogoVar
DGKB_chr7_14140049_14907751	14211854	TTTTACTC others(121): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTC TCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTT TTGTGATTTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0064 a0001c0002t0009g0064	1	148	0.0068	-128	c.212 others(21): Show c.2123-33831_2123-33704del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25					chr7	TogoVar
DHRS12_chr13_51762993_51809163	51775390	TCTCCTAC others(121): Show TCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTA TTCTCCTACATGTATTCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01515.hp1 HG00741.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0318 a0001c0001t0002g0056 a0001c0001t0002g0318	2	420	0.0048	-128	c.364 others(17): Show c.364-1484_364-1357del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8					chr13	TogoVar
DLC1_chr8_13078361_13519851	13453387	GATATATA others(121): Show GATATATATATATATGTGTATATATATATATATATATGTGTATATATATA TGTATATATATACATATATATATGTATATATATACATATATATGTATATA TATACATATATATATGTATATATATATAC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG03139.hp2 others(2): Show HG02622.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03486.hp2	a0007 a0019 a0007 a0019	a0007c0009 a0007c0016 a0007c0031 others(1): Show a0007c0009 a0007c0016 a0007c0031 a0019c0028	a0007c0009t0026 a0007c0016t0005 a0007c0016t0021 others(2): Show a0007c0009t0026 a0007c0016t0005 a0007c0016t0021 a0007c0031t0005 a0019c0028t0022	a0007c0009t0026g0154 a0007c0016t0005g0005 a0007c0016t0021g0003 others(2): Show a0007c0009t0026g0154 a0007c0016t0005g0005 a0007c0016t0021g0003 a0007c0031t0005g0004 a0019c0028t0022g0002	5	212	0.0236	-128	c.102 others(21): Show c.1023+45534_1023+45661del		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17					chr8	TogoVar
DLC1_chr8_13078361_13519851	13453400	ATGTGTAT others(121): Show ATGTGTATATATATATATATATATGTGTATATATATATGTATATATATAC ATATATATATGTATATATATACATATATATGTATATATATACATATATAT ATGTATATATATATACATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp1 HG02809.hp2 HG02965.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0017 a0006c0007t0046 a0006c0007t0017 a0006c0007t0046	a0006c0007t0017g0029 a0006c0007t0046g0032 a0006c0007t0017g0029 a0006c0007t0046g0032	2	212	0.0094	-128	c.102 others(21): Show c.1023+45521_1023+45648del		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17					chr8	TogoVar
DNAH17_chr17_78418697_78582396	78434017	ACAGCCCC others(121): Show ACAGCCCCTCACCTTGGGGTTGGCCTCCAGGTAGTTGTAGAGCACGTTGA TGGAGATGGTGAGGTCCCCGTTGTTGAAGGGGTACGACCGGTTCCAGCCC TGGGCGCCGAACTTGCGCCTCTCTGCCAC	A A	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02976.hp2 HG02976.hp2	a0093 a0093	a0093c0019 a0093c0019	a0093c0019t0001 a0093c0019t0001	a0093c0019t0001g0127 a0093c0019t0001g0127	1	252	0.0040	-128	c.121 others(14): Show c.12109_12225+11del	p.Val others(15): Show p.Val4037_Lys4075del	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	75/81	12109/13389	4037/4462			chr17	TogoVar
DNAH9_chr17_11593470_11974748	11694646	CTCGCTTT others(121): Show CTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCT CGCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCT TTCTTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG02886.hp1 others(4): Show HG02559.hp1 HG02647.hp1 HG02886.hp1 HG03239.hp1 HG04184.hp2 NA19043.hp2 NA20752.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0011 a0040 a0062	a0001c0002 a0001c0012 a0002c0009 others(4): Show a0001c0002 a0001c0012 a0002c0009 a0007c0023 a0011c0068 a0040c0019 a0062c0031	a0001c0002t0001 a0001c0012t0001 a0002c0009t0001 others(4): Show a0001c0002t0001 a0001c0012t0001 a0002c0009t0001 a0007c0023t0001 a0011c0068t0001 a0040c0019t0001 a0062c0031t0001	a0001c0002t0001g0023 a0001c0012t0001g0108 a0002c0009t0001g0162 others(4): Show a0001c0002t0001g0023 a0001c0012t0001g0108 a0002c0009t0001g0162 a0007c0023t0001g0018 a0011c0068t0001g0099 a0040c0019t0001g0001 a0062c0031t0001g0085	7	178	0.0393	-128	c.487 others(17): Show c.4872+202_4872+329del		DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68				INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAJC25_chr9_111626334_111659345	111641677	GGGGGGGG others(121): Show GGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	412	0.0024	-128	c.337 others(17): Show c.337-5422_337-5295del		DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr9	TogoVar
DOC2B_chr17_137789_186650	141161	CTGGGGGG others(121): Show CTGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGGA GCCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATAGGGGGGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0024 a0001c0002t0023 a0001c0002t0024	a0001c0002t0023g0272 a0001c0002t0024g0273 a0001c0002t0023g0272 a0001c0002t0024g0273	2	339	0.0059	-128	c.61 others(11): Show c.6152_*6279del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding				1627		chr17	TogoVar
DOCK2_chr5_169632275_170088382	169664968	ATATCAGC others(121): Show ATATCAGCATATCTATATATGTTTATATATAAGTATCAGCATATCTATAT ATGTTTATATATAAGTATCAGCATATCTATATATGTTTATATATAAGTAT CAGCATATCTATATATGTTTATATATAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19074.hp2 HG00621.hp1 NA19074.hp2	a0001 a0001	a0001c0030 a0001c0032 a0001c0030 a0001c0032	a0001c0030t0002 a0001c0032t0003 a0001c0030t0002 a0001c0032t0003	a0001c0030t0002g0048 a0001c0032t0003g0053 a0001c0030t0002g0048 a0001c0032t0003g0053	2	184	0.0109	-128	c.128 others(17): Show c.128-4052_128-3925del		DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	2/51				INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK5_chr8_25179689_25420711	25216145	TATACAAT others(121): Show TATACAATATGTATATATGTATACAATATGTGCATACAATATGTATATAT GTATACAATATGTGCATACAATATGTATATATGTATACAATATGTGCATA CAATATGTATATATGTATACAATATGTGC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0154 a0001c0002t0028g0154	1	210	0.0048	-128	c.44- others(17): Show c.44-27226_44-27099del		DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51				INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216512	TATGTATA others(121): Show TATGTATACAATATGTGCATACAATATGTATATATGTATACAATATGTGC ATACAATATGTATAGATGTATACAATATGTGCATACAATATGTATAGATG TATACAATATGTGCATACAATATGTATAG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0077 a0002c0007t0077	a0002c0007t0077g0057 a0002c0007t0077g0057	1	210	0.0048	-128	c.44- others(17): Show c.44-27145_44-27018del		DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51				INFO_REALIGN_3_PRIME	chr8	TogoVar
DVL1_chr1_1330278_1354418	1350795	CTGGACCG others(121): Show CTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	344	0.0029	-128	c.-18 others(11): Show c.-1858_-1731del		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding				1378		chr1	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537906	TATATATA others(121): Show TATATATAATTTATATATATAATATATATATAATATATATATAATTTATA TATATAATATATATATATTTATATATAATATATATATATAATTTATATAT ATAATATATATATATAATTTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp1 HG02896.hp1 others(6): Show HG02559.hp1 HG02717.hp1 HG02896.hp1 HG02922.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011	a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0040 others(6): Show a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0046 a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0044 a0001c0001t0009g0045 a0001c0001t0011g0037	9	336	0.0268	-128	c.739 others(15): Show c.739-930_739-803del		DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12					chr3	TogoVar
EHD1_chr11_64846642_64883621	64855856	TTCAACCC others(121): Show TTCAACCCTCACCACGCATCACACACCCTCCGCTCAACCCTCACCACGCA TCACACACCCTCCGCTCAACCCTCACCACGCATCACACACCCTCCGCTCA ACCCTCACCACGCATCACACACCCTCCGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0140 a0001c0002t0015g0140	1	354	0.0028	-128	c.916 others(15): Show c.916-498_916-371del		EHD1	ENSG00000110047.18	transcript	ENST00000320631.8	protein_coding	3/4					chr11	TogoVar
EIF3B_chr7_2349827_2385745	2377503	TGTGTTGT others(121): Show TGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCACGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03688.hp1 HG02258.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0257 a0002c0002t0001g0271 a0002c0002t0001g0257 a0002c0002t0001g0271	2	384	0.0052	-128	c.215 others(17): Show c.2154+434_2154+561del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18				INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377548	ACGAGCGC others(121): Show ACGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCAAGGAGGAAGGAGCAGGCG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19002.hp1 NA18942.hp1 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0207 a0001c0003t0001g0213 a0001c0003t0001g0207 a0001c0003t0001g0213	2	384	0.0052	-128	c.215 others(17): Show c.2154+543_2154+670del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18				INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377631	CGTGTTCT others(121): Show CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 HG03453.hp2 others(1): Show HG02723.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0177 a0001c0001t0001g0197 a0001c0001t0001g0337 others(1): Show a0001c0001t0001g0177 a0001c0001t0001g0197 a0001c0001t0001g0337 a0001c0008t0001g0343	4	384	0.0104	-128	c.215 others(17): Show c.2154+584_2154+711del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18				INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378076	TGTGTTCT others(121): Show TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAAGCC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	384	0.0026	-128	c.215 others(17): Show c.2155-607_2155-480del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18				INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4G3_chr1_20801479_21181897	20981634	GCACATAC others(121): Show GCACATACTGTATGTATACATACATGTATACGCACATACTGTATGTATAC ATACATGTATACGCACATACTGTATGTATACATACATGTATACGCACATA CTGTATATACACATACATATATGTATACA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01358.hp2 HG01081.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0068 a0001c0001t0002g0072	2	312	0.0064	-128	c.199 others(15): Show c.199-535_199-408del		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	8/36					chr1	TogoVar
EXOC6B_chr2_72170984_72831033	72401516	CATATATA others(121): Show CATATATACATATATATATATATATATATGTGTATATATATATATATATA CATATATATATATATACATATATATATATATATATATGTGTATATATATA TATATACATATATATATATATACATATAT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0021 a0001c0009t0005g0021	1	104	0.0096	-128	c.198 others(21): Show c.1981-21774_1981-21647del		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21					chr2	TogoVar
FAM174B_chr15_92612448_92660775	92630822	CATATTAT others(121): Show CATATTATATATTATATATATTACATATTACATGTTACATATTACATATT ATATATTATATATTACGTATTACATATTACATATTATATATTATATATTA CGTATTACATATTACATATTATATATTAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0348 a0001c0001t0007g0348	1	394	0.0025	-128	c.345 others(15): Show c.345-605_345-478del		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2					chr15	TogoVar
FGL1_chr8_17859389_17900524	17882966	ATAATATA others(121): Show ATAATATATTAAATATATAATATATATCATATGTAATATATTAAATATAT AATATATATCATATGTAATATATTAAATATATAATATATATCATATGTAA TATATTAAATATATAATATATATCATATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01884.hp2 HG01891.hp1 others(11): Show HG00280.hp1 HG01884.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03516.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0008 a0004c0004 a0008c0008	a0004c0004t0001 a0008c0008t0002 a0004c0004t0001 a0008c0008t0002	a0004c0004t0001g0040 a0004c0004t0001g0042 a0004c0004t0001g0043 others(11): Show a0004c0004t0001g0040 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0044 a0004c0004t0001g0045 a0004c0004t0001g0046 a0004c0004t0001g0048 a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0051 a0004c0004t0001g0276 a0004c0004t0001g0311 a0004c0004t0001g0312 a0008c0008t0002g0167	14	366	0.0383	-128	c.64- others(13): Show c.64-915_64-788del		FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7					chr8	TogoVar
FHIT_chr3_59742277_61256452	60860362	ATACATCA others(121): Show ATACATCATATGTATACATGACATACATCATATGTATATATGACATACAT CATATGTATATATGATACATATATATCATGTATATATGATACATATGTAC ATATATATGTATATATGATACATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0018 a0001c0001t0010g0018	1	46	0.0217	-128	c.-11 others(21): Show c.-110-38479_-110-38352del		FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9					chr3	TogoVar
FUT9_chr6_96010974_96220612	96035847	TATTATGT others(121): Show TATTATGTTTATTATATTAATATAATATAATACATTATGTTTATTATATT AATATAATATAATACATTATGTTTATTATATTAATATAATATAATACATT ATGTTTATTATATTAATATAATATAATAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0188 a0001c0001t0053g0188	1	320	0.0031	-128	c.-98 others(19): Show c.-98+19733_-98+19860del		FUT9	ENSG00000172461.11	transcript	ENST00000302103.6	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr6	TogoVar

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