Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
ABR_chr17_998519_1184981	1159374	TAAGAATG others(203): Show TAAGAATGCGGTACTCACACACGGGAGAAGTAGGAATGCGGTACTCACAC ACGGGAGAGGTAAGAATGCGGTACTCACACACAAGGGAAGTAAGAATGCA GTACTCACGCACAAGGGAAGTATGCGGTACTCACACACAGGAGAAGTAGG AATGCGGTACTCACACACGGGAGAAGTAGGAATGCGGTACTCACACACGG GAGAAGTAAGA	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03927.hp1 HG03834.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0215 a0001c0001t0002g0084 a0001c0001t0001g0215 a0001c0001t0002g0084	2	302	0.0066	-210	c.61+ others(17): Show c.61+20083_61+20292del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTN4_chr19_38642649_38736589	38735707	GGGGGCGG others(203): Show GGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGG CGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCT GGGGGCGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	270	0.0037	-210	c.62 others(11): Show c.6276_*6485del	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4119		chr19	TogoVar
ADAP1_chr7_892900_959680	933889	ACCGGGGT others(203): Show ACCGGGGTCAGTGGTGCTGGAGAGCCGGGGGCCGGGGTCAGTGGTGGTGC AGAGCCGGGGACCGGGGTCAGTGGTGCTGGAGAGCCGGGGGCCGGGGTCA GTGGTGCTGGAGAGCCGGGGGCCGGGGTCAGTGGTGGTGCAGAGCCGGGG ACCGGGGTCAGTGGTGCTGGAGAGCCGGGGACTGGGGTCAGTGGTGCTGG AGAGCCGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	12	0.0833	-210	c.213 others(17): Show c.213+1276_213+1485del	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	2/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1700301	GCAATCCC others(203): Show GCAATCCCACTCTACCAGGAGACCGGGCACTCGCCAACACACACAATCCC ACTCCACCGGGAGACCAGGCGCTCGCCAATACACTCAATCCCACTCCACC GGGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCACCAGGAGACC GGGCACTCGCCAACACACACAATCCCACTCCACCGGGAGACCAGGCGCTC GTCAATACACT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp1 HG02615.hp1 others(4): Show HG00639.hp1 HG02145.hp1 HG02615.hp1 HG03139.hp1 HG04184.hp1 NA18945.hp1 NA19070.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0010	a0001c0001t0009 a0001c0001t0050 a0001c0001t0061 others(4): Show a0001c0001t0009 a0001c0001t0050 a0001c0001t0061 a0001c0003t0001 a0002c0002t0007 a0002c0002t0065 a0005c0010t0006	a0001c0001t0009g0054 a0001c0001t0050g0077 a0001c0001t0061g0087 others(4): Show a0001c0001t0009g0054 a0001c0001t0050g0077 a0001c0001t0061g0087 a0001c0003t0001g0052 a0002c0002t0007g0002 a0002c0002t0065g0086 a0005c0010t0006g0014	7	46	0.1522	-210	c.100 others(19): Show c.100+36540_100+36749del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1701563	TCAATCCC others(203): Show TCAATCCCACTCCACCAGGAGACCAGGCGCTAGTCAATACACGCAATCCC ACTCTACCAGGAGACCGGGCACTCGCCAACACACACAATCCCACTCCACC GGGAGACCAGGCGCTCGTCAATACACTCAATCCCACTCCACCGGGAGACC AGGCACTCGCCAATACACGCAATCCCACTCCACCGGGAGACCAGGCGCTA GTCAATACACG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18945.hp2 NA18988.hp2 others(3): Show HG02735.hp1 NA18945.hp2 NA18988.hp2 NA18995.hp2 NA19011.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0058 a0001c0001t0059 others(1): Show a0001c0001t0003 a0001c0001t0058 a0001c0001t0059 a0002c0002t0004	a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0058g0099 others(3): Show a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0058g0099 a0001c0001t0059g0092 a0002c0002t0004g0084 a0002c0002t0004g0088	6	80	0.0750	-210	c.100 others(19): Show c.100+35278_100+35487del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111477	CTCCCTCC others(203): Show CTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCC TAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCA CCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCC CCCGGGAACCA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02273.hp2 HG04228.hp1 HG02015.hp1 HG02273.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0007 a0001c0003t0004 a0001c0001t0002 a0001c0002t0007 a0001c0003t0004	a0001c0001t0002g0248 a0001c0002t0007g0285 a0001c0003t0004g0244 a0001c0001t0002g0248 a0001c0002t0007g0285 a0001c0003t0004g0244	3	366	0.0082	-210	c.401 others(17): Show c.401+8657_401+8866del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111555	GGACACCT others(203): Show GGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTA ATCCCACCAGACAACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACC AGACCACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCACCAGACAACC TGCCCGCCACA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03579.hp2 HG00438.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0002g0054 a0001c0006t0001g0079 a0001c0001t0002g0054 a0001c0006t0001g0079	2	255	0.0078	-210	c.401 others(17): Show c.401+8734_401+8943del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111625	AACCTGCC others(203): Show AACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCC CCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCCGCCACGG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCACAGACACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0035 a0001c0029t0035	a0001c0029t0035g0074 a0001c0029t0035g0074	1	233	0.0043	-210	c.401 others(17): Show c.401+8799_401+9008del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111783	CCCTCCAG others(203): Show CCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTG CCCACCACAGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCGCCGT GAGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATG	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	337	0.0030	-210	c.401 others(17): Show c.401+8967_401+9176del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
AK8_chr9_132720578_132883284	132821769	GTATATGT others(203): Show GTATATGTGTATGTATATACAAATATATACATATATGTGTATGTATATAC AAATATATACATATATGTGTATGTATATACAAATATATACATATATGTGT ATGTATATACAAATATATACATATATGTGTATGTATATACAAATATATAC ATATATGTGTATGTATATACAAATATATACATATATGTGTATGTATATAC AAATATATACA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	156	0.0064	-210	c.889 others(17): Show c.889+1226_889+1435del	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
ANKRD11_chr16_89262630_89495561	89429404	ACGTTCTA others(203): Show ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAG CAGGGACTCTCAACTCTCAGGCTCAGACGTTCTAGTACACAGCAGGGACT CTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTC TCAGGCTCAGT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG03130.hp1 others(2): Show HG02723.hp1 HG02896.hp2 HG03130.hp1 HG03486.hp2 NA20300.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0022 a0002c0002 a0012c0029 others(1): Show a0001c0022 a0002c0002 a0012c0029 a0012c0037	a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0012c0029t0001 a0012c0037t0001	a0001c0022t0001g0263 a0002c0002t0001g0220 a0002c0002t0002g0221 others(2): Show a0001c0022t0001g0263 a0002c0002t0001g0220 a0002c0002t0002g0221 a0012c0029t0001g0210 a0012c0037t0001g0139	5	303	0.0165	-210	c.-14 others(21): Show c.-144-11246_-144-11037del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89430279	GGCTCAGT others(203): Show GGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGA CGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAG TACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGC AGGGATTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTC TCAACTCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0242 a0002c0002t0002g0242	1	307	0.0033	-210	c.-14 others(21): Show c.-144-12121_-144-11912del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ASMTL_chrX_1398139_1457909	1408272	CTCCAGCC others(203): Show CTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAG GATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACA CTGCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGC AGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGA CAACACTGCAG	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0093 a0002c0004t0001g0093	1	179	0.0056	-210	c.164 others(19): Show c.1645+4250_1645+4459del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
B3GAT1_chr11_134373508_134417242	134375740	GACATGTG others(203): Show GACATGTGAGTCCTGGCAGAAGCCATGGCCCATGTCTGCACATCCAGGGA GGAGGACAGAAGGCCCAGCTCACATGTGAGTCCTGGCAGAAGCCATGGCC CATGTCTGCACATCCAGGGAGGAGGACAGAAGGCCCAGCTCACATGTGAG TCCTGGCAGAAGCCATGGCCCATGTCTGCACATCCAGGGAGGAGGACAGA AGGCCCAGCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(103): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02615.hp1 HG02717.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp1 HG03492.hp1 HG03688.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19054.hp2 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0051 a0001c0003t0048 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0003 a0001c0001t0002g0030 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0301 a0001c0001t0003g0166 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0234 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0050 a0001c0001t0006g0054 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0063 a0001c0001t0007g0010 a0001c0001t0007g0022 a0001c0001t0007g0101 a0001c0001t0007g0108 a0001c0001t0007g0126 a0001c0001t0007g0170 a0001c0001t0007g0182 a0001c0001t0007g0199 a0001c0001t0007g0208 a0001c0001t0009g0215 a0001c0001t0009g0219 a0001c0001t0016g0035 a0001c0001t0017g0040 a0001c0001t0020g0083 a0001c0001t0022g0233 a0001c0001t0023g0258 a0001c0001t0023g0272 a0001c0001t0024g0263 a0001c0001t0024g0280 a0001c0001t0025g0032 a0001c0001t0026g0033 a0001c0001t0028g0037 a0001c0001t0030g0043 a0001c0001t0032g0045 a0001c0001t0037g0064 a0001c0001t0040g0133 a0001c0001t0041g0107 a0001c0001t0051g0249 a0001c0003t0048g0243 a0003c0004t0001g0156	106	171	0.6199	-210	c.48 others(11): Show c.4812_*5021del	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding		2767		chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	83055240	AGAGGTTC others(203): Show AGAGGTTCCCTGCAGGTCCCCACGGACAGTGTTAGACTCGGTGCTGGGTG GGGAGGTTCCCAGCAGGTCCGCACGGACGGTGTTAGACTCGGTGCTGGGT GGGGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAGACTCGGTGCTGGG TGGGTTGACAGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAGACTGGG TGCTGGGTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0011 a0003c0023t0011	a0003c0023t0011g0020 a0003c0023t0011g0020	1	266	0.0038	-210	c.-36 others(11): Show c.-3699_-3490del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		3471		chr17	TogoVar
B4GALNT3_chr12_454939_568509	543366	AGGCATGG others(203): Show AGGCATGGGGTGCTCATCCTCCTGGAGCTGAGGAGCTGGGGCGGGCATGG GGTGCTCATCTTCCCGGAGCTGAGGAGCTGGGGCGGGCATGGGGTGCTCA TCTTCCTGGAGCTGAGGAGCTGGGACGGGCATGGGGTGCTCATCCTCCTG GAACTGAGGAGCTGGGACGGGCATGGGGTGCTCATCCTCCTGGAACTGAG GAGCTGGGATG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0190 a0001c0001t0087g0190	1	392	0.0026	-210	c.352 others(15): Show c.352-806_352-597del	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCL7A_chr12_122016884_122067044	122024153	GGCTGTAC others(203): Show GGCTGTACCTCTGCGCCTCCCTGGGTTTGGGGAAACAACACATCGTGTCC TCTGAAGACCTCAGGCTTTGGGATCTCATGGTCCAGCTTCCAGTTCACTT CGTTGCCGCGACCTTGGGCATATCATTGTCACTTCTCTAACCATGGTGAC CCGGGGTTTTGTGCTTGGCTTCCAGGTCCCCTCGGGTTATTGAGGACGAT TGAGGTCATGC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0011 a0001c0002t0062g0011	1	360	0.0028	-210	c.92+ others(15): Show c.92+1971_92+2180del	BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	1/5			chr12	TogoVar
BOP1_chr8_144257045_144296438	144281264	CCTCAGTT others(203): Show CCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTC TTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTC TCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01361.hp2 HG01891.hp2 others(9): Show HG01070.hp2 HG01361.hp2 HG01891.hp2 HG01975.hp2 HG02922.hp2 HG03225.hp2 HG03540.hp2 HG04204.hp2 HG06807.hp2 NA19056.hp2 NA19057.hp1 NA21309.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0012c0014	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0012c0014t0001	a0001c0001t0001g0083 a0001c0001t0001g0119 a0001c0001t0001g0120 others(9): Show a0001c0001t0001g0083 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0264 a0001c0003t0001g0358 a0001c0006t0001g0181 a0012c0014t0001g0219	12	355	0.0338	-210	c.310 others(17): Show c.310-5170_310-4961del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281273	AATACCAG others(203): Show AATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTT CTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGT CTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTT CATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTT CTCTCACTTTC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	287	0.0035	-210	c.310 others(17): Show c.310-5179_310-4970del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281286	CGGCCTTC others(203): Show CGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTT TGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCAT ACCAGGTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0328 a0001c0001t0001g0320 a0001c0001t0001g0328	2	288	0.0069	-210	c.310 others(17): Show c.310-5192_310-4983del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281303	CATACCAG others(203): Show CATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTT CCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGT CTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTT AATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTT CCCTCAGTTTA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	370	0.0027	-210	c.310 others(17): Show c.310-5209_310-5000del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281324	TCTCAGTT others(203): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTC ATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTC TCTCACTTTCATACCAGGTCTTTGGCCTTCCCTCAGTTTAATACCAGGTC TTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19082.hp1 HG02723.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0236 a0001c0001t0001g0224 a0001c0001t0001g0236	2	378	0.0053	-210	c.310 others(17): Show c.310-5230_310-5021del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281363	AATACCAG others(203): Show AATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTT CTCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGT CTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCCCTCAGTTT AATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTT CCCTCACTTTC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp1 others(27): Show HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00597.hp1 HG00673.hp2 HG00741.hp2 HG01109.hp2 HG01884.hp2 HG02015.hp1 HG02074.hp2 HG02155.hp2 HG02165.hp1 HG02523.hp2 HG03225.hp1 HG03704.hp1 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA19057.hp2 NA19070.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0020 others(5): Show a0001c0001 a0001c0002 a0001c0020 a0001c0027 a0004c0007 a0006c0009 a0007c0026 a0008c0024	a0001c0001t0001 a0001c0002t0001 a0001c0020t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0020t0001 a0001c0027t0001 a0004c0007t0001 a0006c0009t0001 a0007c0026t0001 a0008c0024t0001	a0001c0001t0001g0033 a0001c0001t0001g0065 a0001c0001t0001g0070 others(26): Show a0001c0001t0001g0033 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0238 a0001c0001t0001g0262 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0020t0001g0091 a0001c0027t0001g0092 a0004c0007t0001g0008 a0006c0009t0001g0293 a0007c0026t0001g0094 a0008c0024t0001g0150	30	376	0.0798	-210	c.310 others(17): Show c.310-5269_310-5060del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281389	GTTTAATA others(203): Show GTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGG CCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACC AGGTCTTTGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCA GTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGG CCTTCTCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	341	0.0029	-210	c.310 others(17): Show c.310-5295_310-5086del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
C1orf159_chr1_1076823_1121089	1076945	AGGCTGAG others(203): Show AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGG AGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTACGGGGACT CCGTGAGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	297	0.0034	-210	c.57 others(11): Show c.5738_*5947del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4877		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077121	GGGGAGGC others(203): Show GGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGG GACTCCGTGCGGGGAGGCTGAGTCTATGGGGACTCCGTGCGGGGTGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCTGTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0037 a0001c0002t0005g0037	1	168	0.0060	-210	c.55 others(11): Show c.5562_*5771del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4701		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077823	GCTACGGG others(203): Show GCTACGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCG GGAGGCTGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	308	0.0032	-210	c.48 others(11): Show c.4860_*5069del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3999		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078033	TCTATGGG others(203): Show TCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGA CTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAG GCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	89	0.0112	-210	c.46 others(11): Show c.4650_*4859del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3789		chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185655	TGCATAGG others(203): Show TGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGTGGGCAGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGCTGTGTACGGGGCGG GTGAGTAGACG	T T	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	333	0.0030	-210	c.300 others(17): Show c.300-9314_300-9105del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191000	CCCTGGCT others(203): Show CCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCT GGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTGACTCAGCAG GCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTGACTCAG CAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTTACT CAGCAGGCTGG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp2 others(40): Show HG00423.hp1 HG00438.hp2 HG00597.hp2 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01928.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02735.hp1 HG02735.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 NA18747.hp2 NA18948.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18979.hp1 NA18990.hp2 NA18998.hp1 NA19004.hp2 NA19087.hp1 NA19091.hp1 NA20805.hp2	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0007 a0014 a0016 a0023 a0032 a0045 a0055 a0056 a0070 a0073 a0074	a0001c0001 a0001c0086 a0001c0088 others(14): Show a0001c0001 a0001c0086 a0001c0088 a0001c0092 a0002c0002 a0004c0006 a0007c0004 a0014c0030 a0016c0018 a0023c0117 a0032c0089 a0045c0104 a0055c0090 a0056c0083 a0070c0095 a0073c0106 a0074c0103	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0086t0001 a0001c0088t0001 a0001c0092t0009 a0002c0002t0001 a0004c0006t0002 a0007c0004t0004 a0014c0030t0006 a0014c0030t0013 a0016c0018t0004 a0016c0018t0011 a0023c0117t0006 a0032c0089t0005 a0045c0104t0002 a0055c0090t0001 a0056c0083t0003 a0070c0095t0002 a0073c0106t0001 a0074c0103t0001	a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0052 others(40): Show a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0237 a0001c0001t0005g0267 a0001c0001t0014g0296 a0001c0001t0014g0302 a0001c0086t0001g0021 a0001c0088t0001g0015 a0001c0092t0009g0311 a0002c0002t0001g0239 a0004c0006t0002g0133 a0007c0004t0004g0020 a0007c0004t0004g0022 a0014c0030t0006g0010 a0014c0030t0013g0249 a0016c0018t0004g0033 a0016c0018t0004g0293 a0016c0018t0011g0073 a0023c0117t0006g0036 a0032c0089t0005g0262 a0045c0104t0002g0086 a0055c0090t0001g0240 a0056c0083t0003g0037 a0070c0095t0002g0188 a0073c0106t0001g0102 a0074c0103t0001g0061	43	331	0.1299	-210	c.300 others(17): Show c.300-3882_300-3673del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191090	GACTCAGC others(203): Show GACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTC TCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGT CTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGG GGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCG GGGTCTCTCTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18747.hp1 NA18951.hp2 HG00544.hp2 NA18747.hp1 NA18951.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0002 a0002c0010t0005 a0001c0001t0002 a0002c0010t0005	a0001c0001t0002g0186 a0001c0001t0002g0187 a0002c0010t0005g0271 a0001c0001t0002g0186 a0001c0001t0002g0187 a0002c0010t0005g0271	3	330	0.0091	-210	c.300 others(17): Show c.300-3850_300-3641del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191452	TTGGTGAC others(203): Show TTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTTGGG GTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGG GGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCG GGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGCACAC TCAGGGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0063 a0063	a0063c0113 a0063c0113	a0063c0113t0001 a0063c0113t0001	a0063c0113t0001g0213 a0063c0113t0001g0213	1	302	0.0033	-210	c.300 others(17): Show c.300-3519_300-3310del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNG8_chr19_53957937_53995215	53962358	GAGCGGTG others(203): Show GAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGA CTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTCATCTTATTTATTA ATTATTAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGG GACGACTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTCATCTTATT TATTAATTATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02735.hp2 NA18950.hp1 others(2): Show HG02559.hp1 HG02735.hp2 NA18950.hp1 NA18955.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0102 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0102 a0001c0001t0131	a0001c0001t0001g0004 a0001c0001t0001g0095 a0001c0001t0021g0193 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0095 a0001c0001t0021g0193 a0001c0001t0102g0004 a0001c0001t0131g0164	5	254	0.0197	-210	c.-78 others(9): Show c.-784_-575del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		578		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53962510	CGACTTTC others(203): Show CGACTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTCATCTTATTTA TTAATTATTAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGG TGGGACGACTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTCATCTT ATTTATTAATTATTAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGG GATGGTGGGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0191 a0001c0001t0119g0191	1	385	0.0026	-210	c.-63 others(9): Show c.-632_-423del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		426		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735707	GGGGGCGG others(203): Show GGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGG CGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCT GGGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	297	0.0034	-210	c.158 others(17): Show c.1583+193_1584-164del	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CCDC73_chr11_32597721_32799662	32756213	CTATATAT others(203): Show CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATAT ATATATCTATATATATATCTCCATATATATATCTATATATATATCTCCAT ATATATATCTA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp1 NA19030.hp2 HG02723.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212	3	308	0.0097	-210	c.135 others(17): Show c.135+3686_135+3895del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CELF4_chr18_37238040_37570798	37337987	CCATTGTC others(203): Show CCATTGTCATCACTACTGTCACTGCCACCACCACCACTGTCGCTGCCACC ATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATTGTCAC CACTATCATTGTCACCACTACTGTCACTGCCACCACCACCACTGTCGCTG CCACCATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATT GTCACCACTAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00642.hp1 others(38): Show HG00408.hp2 HG00423.hp1 HG00642.hp1 HG01070.hp1 HG01255.hp1 HG01258.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02897.hp1 HG02922.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 NA18906.hp1 NA18961.hp2 NA18964.hp2 NA18971.hp1 NA18982.hp1 NA19005.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19068.hp2 NA19240.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0024 a0001c0001t0033 a0001c0001t0034 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0002t0014 a0001c0002t0016 a0001c0002t0037	a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0083 others(38): Show a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0182 a0001c0001t0002g0074 a0001c0001t0002g0133 a0001c0001t0002g0151 a0001c0001t0002g0165 a0001c0001t0004g0008 a0001c0001t0004g0014 a0001c0001t0005g0091 a0001c0001t0006g0016 a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0008g0130 a0001c0001t0009g0015 a0001c0001t0011g0178 a0001c0001t0013g0003 a0001c0001t0019g0043 a0001c0001t0024g0049 a0001c0001t0033g0164 a0001c0001t0034g0087 a0001c0001t0038g0170 a0001c0001t0041g0062 a0001c0001t0042g0123 a0001c0002t0001g0114 a0001c0002t0001g0134 a0001c0002t0002g0166 a0001c0002t0003g0163 a0001c0002t0005g0067 a0001c0002t0013g0009 a0001c0002t0014g0002 a0001c0002t0016g0092 a0001c0002t0037g0056	41	167	0.2455	-210	c.370 others(19): Show c.370-16316_370-16107del	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CEP131_chr17_81184596_81227965	81209684	GGAGAAGC others(203): Show GGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCT AAGCGAGGATCAGACCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAG CGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGG ACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGAT CAGACCGCTCC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp1 HG01891.hp2 others(21): Show HG01255.hp2 HG01884.hp1 HG01891.hp2 HG02015.hp1 HG02109.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02723.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp2 HG03579.hp2 NA18906.hp2 NA18948.hp1 NA18969.hp1 NA18999.hp2 NA19240.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0008 a0015 a0024 a0026 a0028 a0029 a0039	a0001c0003 a0001c0004 a0001c0054 others(10): Show a0001c0003 a0001c0004 a0001c0054 a0002c0002 a0003c0008 a0003c0020 a0008c0010 a0015c0022 a0024c0035 a0026c0072 a0028c0073 a0029c0067 a0039c0029	a0001c0003t0002 a0001c0004t0001 a0001c0054t0001 others(10): Show a0001c0003t0002 a0001c0004t0001 a0001c0054t0001 a0002c0002t0002 a0003c0008t0003 a0003c0020t0003 a0008c0010t0001 a0015c0022t0001 a0024c0035t0003 a0026c0072t0001 a0028c0073t0001 a0029c0067t0001 a0039c0029t0001	a0001c0003t0002g0060 a0001c0004t0001g0282 a0001c0004t0001g0291 others(20): Show a0001c0003t0002g0060 a0001c0004t0001g0282 a0001c0004t0001g0291 a0001c0054t0001g0263 a0002c0002t0002g0043 a0003c0008t0003g0306 a0003c0008t0003g0308 a0003c0008t0003g0309 a0003c0008t0003g0310 a0003c0008t0003g0317 a0003c0008t0003g0328 a0003c0020t0003g0026 a0003c0020t0003g0318 a0008c0010t0001g0267 a0008c0010t0001g0286 a0015c0022t0001g0129 a0015c0022t0001g0130 a0015c0022t0001g0131 a0024c0035t0003g0312 a0026c0072t0001g0303 a0028c0073t0001g0132 a0029c0067t0001g0126 a0039c0029t0001g0301	24	382	0.0628	-210	c.178 others(15): Show c.178-872_178-663del	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP131_chr17_81184596_81227965	81209888	CCGCTCCG others(203): Show CCGCTCCGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCG GACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGA TCAGACCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAG AAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGC GAGGATCAGAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp2 HG02145.hp2 others(4): Show HG00642.hp1 HG01243.hp2 HG02145.hp2 HG02273.hp1 NA19057.hp2 NA19070.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0058 others(1): Show a0001c0003 a0001c0004 a0001c0058 a0002c0002	a0001c0003t0002 a0001c0004t0002 a0001c0058t0003 others(1): Show a0001c0003t0002 a0001c0004t0002 a0001c0058t0003 a0002c0002t0002	a0001c0003t0002g0105 a0001c0003t0002g0108 a0001c0004t0002g0039 others(4): Show a0001c0003t0002g0105 a0001c0003t0002g0108 a0001c0004t0002g0039 a0001c0004t0002g0045 a0001c0058t0003g0331 a0002c0002t0002g0038 a0002c0002t0002g0096	7	267	0.0262	-210	c.178 others(16): Show c.178-1076_178-867del	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CFAP77_chr9_132405211_132578319	132513903	GGGTGACT others(203): Show GGGTGACTGTGAGGAGATGACCCTTCCCCTGTACCCCTGACCACAGATGA CAGTGAGGAGATCTCCCTCCCGTGTCCCTGACCATGGGTGACAGTGAGAT GACCCTTCCCCTGTGTCACTGAACACGGGTGACAGTGAGGAGATCCCCCC GTCTTGTGTCCCTGACCACAGGTGATGGTGAGATGACCCTTCACCTATAT CCCTGAACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(50): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01928.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp1 HG02615.hp1 HG02738.hp1 HG03098.hp2 HG03486.hp2 HG03516.hp2 HG03831.hp2 NA18955.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18990.hp1 NA19004.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0006c0015 a0008c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0002c0003t0001 a0006c0015t0002 a0008c0018t0001	a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0036 others(50): Show a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0025 a0001c0001t0002g0098 a0001c0001t0002g0138 a0001c0001t0002g0264 a0001c0001t0002g0290 a0001c0001t0002g0320 a0001c0001t0004g0287 a0001c0001t0006g0296 a0001c0001t0011g0054 a0001c0002t0001g0047 a0001c0002t0001g0237 a0001c0002t0002g0148 a0001c0004t0002g0178 a0002c0003t0001g0215 a0002c0003t0001g0242 a0002c0003t0001g0269 a0002c0003t0001g0308 a0006c0015t0002g0216 a0008c0018t0001g0186	53	320	0.1656	-210	c.524 others(19): Show c.524+14310_524+14519del	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CHCHD6_chr3_126699240_126965420	126862753	TCCTCCTC others(203): Show TCCTCCTCCACCATCACCACCTCCTCCTCCTCCACCATCACCACCTTCCC CTCTACCACCATCACCAACTCCCCCTCCTCCACCATCACCACCTCCTCCT CCACCATCACCACCTCCTCCTCCACCATCACTACCTCCTCCTCCTCCACC ATCACCACCTCCTCCTCCTCCACCATCACCACCTTCCCCTCTACCACCAT CACCAACTCCC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01981.hp2 HG02055.hp2 others(3): Show HG01496.hp2 HG01981.hp2 HG02055.hp2 HG02257.hp2 HG03225.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0004 a0001c0001t0001 a0007c0007t0004	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(3): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0211 a0001c0001t0001g0212 a0007c0007t0004g0216	6	204	0.0294	-210	c.495 others(19): Show c.495+10053_495+10262del	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP1A_chr16_89639435_89662708	89647614	TGCGGGGT others(203): Show TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG04204.hp2 HG01069.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0006 a0001c0001t0016	a0001c0001t0006g0147 a0001c0001t0016g0115 a0001c0001t0006g0147 a0001c0001t0016g0115	2	286	0.0070	-210	c.253 others(15): Show c.253-493_253-284del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648110	GGACCCAG others(203): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0115 a0001c0001t0016g0115	1	212	0.0047	-210	c.253 others(15): Show c.253-989_253-780del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CLCN7_chr16_1439935_1480028	1459490	GCAGCACA others(203): Show GCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCG GGGCCCCAGGGAAGGGGAGAGCAGCACACATGTCGGGGCCTCAGGGAAGG GGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACA CTTCGGGGCCCCAGGGAAGGGGAGAGCGGCACACACGTCGGGGCCTCAGG GAAGGGGAGCT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02258.hp1 others(17): Show HG01243.hp2 HG02055.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0008 a0002c0009 others(4): Show a0001c0001 a0002c0008 a0002c0009 a0002c0011 a0002c0012 a0003c0016 a0005c0018	a0001c0001t0035 a0001c0001t0049 a0002c0008t0017 others(7): Show a0001c0001t0035 a0001c0001t0049 a0002c0008t0017 a0002c0008t0027 a0002c0009t0005 a0002c0009t0016 a0002c0011t0018 a0002c0012t0014 a0003c0016t0050 a0005c0018t0053	a0001c0001t0035g0035 a0001c0001t0049g0237 a0002c0008t0017g0010 others(16): Show a0001c0001t0035g0035 a0001c0001t0049g0237 a0002c0008t0017g0010 a0002c0008t0017g0159 a0002c0008t0027g0251 a0002c0008t0027g0252 a0002c0009t0005g0032 a0002c0009t0005g0283 a0002c0009t0016g0080 a0002c0009t0016g0081 a0002c0009t0016g0082 a0002c0011t0018g0253 a0002c0011t0018g0269 a0002c0011t0018g0270 a0002c0012t0014g0016 a0002c0012t0014g0017 a0002c0012t0014g0018 a0003c0016t0050g0153 a0005c0018t0053g0275	20	402	0.0498	-210	c.595 others(15): Show c.595-513_595-304del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	6/24			chr16	TogoVar
CNN2_chr19_1021608_1044065	1033688	CACGGTGT others(203): Show CACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTG TAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCT GGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGA GCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02451.hp2 HG02895.hp2 HG01943.hp1 HG02451.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0025 a0001c0001t0006 a0001c0001t0022 a0001c0001t0025	a0001c0001t0006g0054 a0001c0001t0022g0063 a0001c0001t0025g0061 a0001c0001t0006g0054 a0001c0001t0022g0063 a0001c0001t0025g0061	3	388	0.0077	-210	c.390 others(17): Show c.390+1084_390+1293del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1033780	GAGCGTGG others(203): Show GAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGA CGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGG TGTAGACCGGC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	376	0.0027	-210	c.390 others(17): Show c.390+1154_390+1363del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1033937	GGTGTCTG others(203): Show GGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGAC CGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTG GGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGT GTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTG GGTGGGACACA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18950.hp2 HG02080.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0145 a0001c0001t0001g0002 a0001c0001t0002g0145	2	388	0.0052	-210	c.390 others(17): Show c.390+1242_390+1451del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
CNN2_chr19_1021608_1044065	1033938	GTGTCTGG others(203): Show GTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGG GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACACAT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG02698.hp2 others(1): Show HG00639.hp1 HG00642.hp1 HG02698.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0174 others(1): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0174 a0001c0001t0027g0087	4	388	0.0103	-210	c.390 others(17): Show c.390+1257_390+1466del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
COLEC11_chr2_3590112_3649644	3605360	CGAGGAGG others(203): Show CGAGGAGGGGGCGGGGGAGTCACGTGGGTGCCGAGGAGGGGGAGGGGAGT CACGTGGGTGCCGAGGAGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGGG AGGGGAGTCACGTGGGTGCTGAGGAGGGGGAGGGGCGGCCACGTGGGTGC TGAGGAGGCGGGGGAGGGGAGTCACGTGGTTGATGAGGGGGAGGGGAGTC ACGTGGGTGCT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	376	0.0027	-210	c.130 others(16): Show c.130+900_130+1109del	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTDP1_chr18_79674803_79759503	79739776	AGGACGGG others(203): Show AGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCC GGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0351 a0001c0007t0003g0351	1	18	0.0556	-210	c.274 others(19): Show c.2747+3481_2747+3690del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results