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
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(411): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGT GTATATATACATATATACGTATGTATGTGTATATATACATATATACGTAT GTATGTGTATATATACATATATACGTATGTATGTGTATATATACATATAT ACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATAC ATATATACGTATGTATGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01255.hp1 HG02300.hp2 others(17): Show HG01168.hp1 HG01255.hp1 HG02300.hp2 HG02622.hp1 HG02922.hp1 HG03041.hp2 HG03486.hp1 HG04228.hp2 NA18952.hp2 NA18968.hp1 NA18971.hp2 NA18972.hp1 NA18978.hp2 NA18982.hp1 NA18990.hp1 NA19004.hp2 NA19056.hp1 NA19070.hp1 NA19082.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0016 a0001c0001 a0006c0016	a0001c0001t0001 a0006c0016t0001 a0001c0001t0001 a0006c0016t0001	a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0218 others(17): Show a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0001g0313 a0006c0016t0001g0202	20	142	0.1408	418	c.273 others(435): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATATACACA TACATACGTATATATGTATATATACACATACATACGTATATATGTATATA TACACATACATACGTATATATGTATATATACACATACATACGTATATATG TATATATACACATACATACGTATATATGTATATATACACATACATACGTA TATATGTATATATACACATACATACGTATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(411): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCT CTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0214	1	12	0.0833	418	c.-45 others(439): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(411): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCT CTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	12	0.0833	418	c.-45 others(439): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(411): Show AAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGA AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAGGAAAGAAAGAAAGA GAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	209	0.0048	418	c.403 others(433): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTT CTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(411): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCC TCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCC TCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	8	0.1250	418	c.69 others(429): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(411): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCT CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCC TCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCC TCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	8	0.1250	418	c.69 others(429): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20320375	A A	ATATATAT others(411): Show ATATATATTATATATGTAATATAATATATGTAATATATATTATATATGTA ATATATAATATATGTAATATATATTATATATATTATATATGTAATATATA TTATATATATTATATATATTATATATGTAATATATATTATATATATTATA TATATTATATATGTAATATATATTATATATATTATATATATTATATATGC AATATATATTATATATATTATATATGCAATATATATTATATATTACATAT GTAATATATATATTATATATTACATATGTAATATATATTACATATGTAAT ATATATTATATATGTAATATATATTACATATATTATATATGTAATATATA ATATATATTATATATGTAATATATATTATATATGTAATATATAATATATA TGTAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0135 a0005c0008t0001g0135	1	228	0.0044	418	c.342 others(439): Show c.3423-21449_3423-21448insTATATATGTAATATAATATATGTA ATATATATTATATATGTAATATATAATATATGTAATATATATTATATATA TTATATATGTAATATATATTATATATATTATATATATTATATATGTAATA TATATTATATATATTATATATATTATATATGTAATATATATTATATATAT TATATATATTATATATGCAATATATATTATATATATTATATATGCAATAT ATATTATATATTACATATGTAATATATATATTATATATTACATATGTAAT ATATATTACATATGTAATATATATTATATATGTAATATATATTACATATA TTATATATGTAATATATAATATATATTATATATGTAATATATATTATATA TGTAATATATAATATATATGTAATATATAATATATATTATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(411): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGC AGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGA GGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAG GGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGG AGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGG AAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGG GAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19002.hp2 NA18950.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0267 a0001c0001t0001g0237 a0001c0001t0001g0267	2	184	0.0109	418	c.637 others(433): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGT CCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTC CCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTC CCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(411): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	270	0.0037	418	c.-52 others(435): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCA AGGTTGTATTTCTGTTTATAACTGGTGGGTGGGGGGGAGTTAAATTAATT TTGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGG CCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGG GCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(411): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01978.hp1 NA18943.hp1 HG00738.hp1 HG01978.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0003g0084 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0003g0084	3	272	0.0110	418	c.-52 others(435): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCA AGGTTGTATTTCTGTTTATAACTGGTGGGTGGGGGGGAGTTAAATTAATT TTGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGG CCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGG GCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(411): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTTCCAGCTGCTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0041	1	246	0.0041	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTTCCAGC TGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(411): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTGCTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0034 a0003c0003t0001g0034	1	246	0.0041	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGC TGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(411): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTCGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	246	0.0041	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTCGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(411): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTTCCAGCTGCTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0040 a0003c0003t0001g0040	1	246	0.0041	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTTCCAGC TGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(411): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	246	0.0041	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG02040.hp2 others(6): Show HG00558.hp1 HG00673.hp1 HG02040.hp2 HG02056.hp1 NA18951.hp2 NA18966.hp2 NA19007.hp2 NA19079.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0216 others(6): Show a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0316 a0001c0001t0002g0199 a0001c0001t0002g0215	9	39	0.2308	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00621.hp2 others(79): Show HG00280.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18985.hp1 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19070.hp2 NA19086.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0010	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0007 a0010c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0002c0002t0001 a0002c0002t0002 a0003c0003t0004 a0006c0007t0003 a0010c0008t0001	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0175 others(79): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0175 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0002g0007 a0001c0001t0002g0207 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0250 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0003g0086 a0001c0001t0003g0098 a0001c0001t0003g0221 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0266 a0001c0001t0003g0271 a0001c0001t0003g0290 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0017 a0001c0001t0004g0028 a0001c0001t0005g0025 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0174 a0001c0001t0010g0224 a0001c0001t0010g0225 a0001c0001t0010g0284 a0001c0001t0011g0220 a0001c0001t0020g0026 a0001c0001t0024g0270 a0001c0001t0025g0286 a0002c0002t0001g0269 a0002c0002t0002g0249 a0003c0003t0004g0160 a0006c0007t0003g0265 a0010c0008t0001g0159	82	112	0.7321	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGTGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0273 a0001c0001t0004g0273	1	31	0.0323	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGTGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG04204.hp1 HG02965.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0204 a0001c0001t0013g0194 a0001c0001t0003g0204 a0001c0001t0013g0194	2	32	0.0625	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGTGGTGGCTCAAGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCCCTGCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	31	0.0323	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGTGGTGGCTCA AGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCGGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	31	0.0323	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCGGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(411): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCAT GTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp1 NA20300.hp1 HG01884.hp2 HG02976.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0009g0012 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0009g0012	3	33	0.0909	418	c.-52 others(435): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(411): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GAGGGGGTGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0018 a0018	a0018c0042 a0018c0042	a0018c0042t0004 a0018c0042t0004	a0018c0042t0004g0004 a0018c0042t0004g0004	1	16	0.0625	418	c.416 others(439): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCACCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCCTCCCCTCCCCCT CCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCTCC CTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(411): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGG GGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAA GGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02735.hp1 HG00735.hp2 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0012 a0002c0002t0018g0063 a0002c0002t0018g0012 a0002c0002t0018g0063	2	98	0.0204	418	c.923 others(437): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCC CTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCC TCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTC CCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(411): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGAATGGAGGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAG TGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAAGGGGAG GGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAG GGGGAGGGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0006 a0002c0011t0006	a0002c0011t0006g0124 a0002c0011t0006g0124	1	197	0.0051	418	c.923 others(437): Show c.923-33078_923-33077insCTCCCCCCTCCCCCTCCCCCTCCCCC TCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCACTCCCCT CCCCCTCCCCTCACCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCA TCCCTCCATTCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCATTCCTT CCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK2_chr4_150073445_150262438	150251087	A A	ACACCCCC others(411): Show ACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAACACC CCCCAACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCA CACCCCCCACACCCCCCACATCTCCCCACACACCCCCCACACCACACATC CCCCACACCCCCCACACCCCCCACACCCCCCACATCTCCCCACACACCCC CACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACAT CCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCA CACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATCCC CACACCCCCCAACACCCCC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0076 a0001c0001t0009g0076	1	71	0.0141	418	c.207 others(437): Show c.2073+1403_2073+1404insCACCCCCACACACCCCCCACACCACA CATCCCTCACACCCCCCAACACCCCCCAACACCCCCACACACCCCCCACA CCACACATCCCCCACACCCCCCACACCCCCCACACCCCCCACATCTCCCC ACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACC CCCCACATCTCCCCACACACCCCCACACCACACATCCCCCACACCCCCCA CACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCC CACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACA CCCCCCACACCACACATCCCTCACACCCCCCAACACCCCCACACCCCCAC ACACCCCCCACACCACACATCCCCACACCCCCCAACACCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAACAACA others(411): Show CAACAACAAAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAA TGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCA TTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCA CTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAA TATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGC ATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCAC CAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATG TACCCTAAAACTTAGAGTATAATAAAAAAAAAAAATTAAAAAAAAAAATA AAAATAAAAATAAAAATAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18950.hp1 NA18954.hp2 others(8): Show HG02074.hp1 NA18950.hp1 NA18954.hp2 NA18961.hp2 NA18966.hp1 NA18986.hp1 NA18993.hp2 NA18999.hp2 NA19012.hp2 NA19077.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0106 a0001c0003t0006 a0001c0003t0106	a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 others(8): Show a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0261 a0001c0003t0006g0262 a0001c0003t0006g0295 a0001c0003t0006g0304 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0106g0133	11	159	0.0692	418	c.216 others(437): Show c.2168-1224_2168-1223insCAACAAAAAAAAAAATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAATTAAAAAAAAAAATAAAAATAAAAATAAAAATAAAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAACAACA others(411): Show CAACAACAACAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAA TGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCA TTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCA CTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAA TATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGC ATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCAC CAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATG TACCCTAAAACTTAGAGTATAATAAAAAAAAAAAATTAAAAAAAAAAATA AAAATAAAAATAAAAATAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0107 a0001c0003t0107	a0001c0003t0107g0058 a0001c0003t0107g0058	1	149	0.0067	418	c.216 others(437): Show c.2168-1224_2168-1223insCAACAACAAAAAAAATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAATTAAAAAAAAAAATAAAAATAAAAATAAAAATAAAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DIP2C_chr10_269201_694668	608490	C C	CCCACACA others(411): Show CCCACACACACGCCCCCCCCCCACACACATCCCCCCCCCCACACACACAT CCCCCCCCCCACACACACATCCCCCCCCCCACACACACATCCCCCCCCCC ACACACACATCCCCCCCCCCACACACACATCCCCCCCCACACACACACAT CCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCCACA CACACATCCCCCCCCACACACACATCCCCCCCCCACACACACATCCCCCC CCACACACACACATCCCCCCCACACACACACATCCCCCCCACACACACAC ATCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCACA CACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATC CCCCCCCACACACACACAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	61	0.0164	418	c.85+ others(435): Show c.85+81003_85+81004insATGTGTGTGTGTGGGGGGGGATGTGTGT GTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGG GATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTG TGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGATG TGTGTGTGGGGGGGGGATGTGTGTGTGGGGGGGGATGTGTGTGTGGGGGG GGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTG TGTGGGGGGGGATGTGTGTGTGGGGGGGGGGATGTGTGTGTGGGGGGGGG GATGTGTGTGTGGGGGGGGGGATGTGTGTGTGGGGGGGGGGATGTGTGTG TGGGGGGGGGGATGTGTGTGGGGGGGGGGCGTGTGTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522761	A A	ACCCAGCC others(411): Show ACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACC CAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGGCCCAGCGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0014 a0014	a0014c0046 a0014c0046	a0014c0046t0021 a0014c0046t0021	a0014c0046t0021g0019 a0014c0046t0021g0019	1	260	0.0038	418	c.236 others(437): Show c.2363-1172_2363-1171insAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522761	A A	ACCCAGCC others(411): Show ACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACC CAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGGCCCAGCGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0014 a0014	a0014c0045 a0014c0045	a0014c0045t0004 a0014c0045t0004	a0014c0045t0004g0020 a0014c0045t0004g0020	1	260	0.0038	418	c.236 others(437): Show c.2363-1172_2363-1171insAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAAGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP1_chr18_3491032_4460307	3741358	A A	ATCACCAT others(411): Show ATCACCATCACCACCACCACCACCATCACCTCACCACCACCACCACCATC ACCACCACCATCACCACCATCACCTCACCACCACCACCACCATCACCTCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACC ACCACCATCACCATCACCACCACCATCACCACCACCACCACATCACCATC ACCATCACCACCACCATCACCACCACATCACCACCACCACCACCACCACC ACCAAATCACCACCACCACCACCACATCACCATCACCACCACCACCATCA CCATCACCACCACAATCACCACCACCACCACATCACCATCACCACCACCA CCACCACCACATCACATCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02451.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0039 a0001c0006t0013 a0001c0001t0039 a0001c0006t0013	a0001c0001t0039g0056 a0001c0006t0013g0073 a0001c0001t0039g0056 a0001c0006t0013g0073	2	70	0.0286	418	c.135 others(435): Show c.1350+976_1350+977insGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGATGTGATGTGGTGGTGGTGGTGGTGG TGATGGTGATGTGGTGGTGGTGGTGATTGTGGTGGTGATGGTGATGGTGG TGGTGGTGATGGTGATGTGGTGGTGGTGGTGGTGATTTGGTGGTGGTGGT GGTGGTGGTGGTGATGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGAT GTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAGGTGAT GGTGGTGGTGGTGGTGAGGTGATGGTGGTGATGGTGGTGGTGATGGTGGT GGTGGTGGTGAGGTGATGGTGGTGGTGGTGGTGATGGTGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1470956	C C	CCTTTCCC others(411): Show CCTTTCCCGACCCCTGCAGCCTTTCCCGACCCCTGCAGCCTTTCCCGACC CCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTT CCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCC AGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCATCCTTTCCCGA CCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCT TTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCT CCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTGCAGCCTTTCCC GACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGC CTTTCCCGACCCCTCCAGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	39	0.0256	418	c.107 others(437): Show c.107-30396_107-30395insGCAGCCTTTCCCGACCCCTGCAGCCT TTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCT CCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGGCTTTCCC GACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCATC CTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGACCC CTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTC CCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTGCA GCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGAC CCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH9_chr17_11593470_11974748	11712086	G G	GTATATAT others(411): Show GTATATATATATAAATATATATATTTGTATATATATTTATATATAAATAT ATATATTTGTATATATATTTATATATAAATATATATATTTGTATATATAT ATAAATATATATATTTGTATATATATTTATATATATATATTTGTATATAT ATTTATATATAAATATATATATAAATATATATATTTATATATAAATACAT ATATTTATATATTTATATATAAATATATGTATTTATATAAATTTATATAT ATATATATTTATATATAAATATATATATATATAAATATATATATTTATAT ATATTTATATATAAATATATATATTTATATATATTTATATATAAATATAT ATATATAAATATATATATTTATATATATATATATTTATATATATTTATAT ATAAATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	142	0.0070	418	c.555 others(437): Show c.5552+6910_5552+6911insATAAATATATATATTTGTATATATAT TTATATATAAATATATATATTTGTATATATATTTATATATAAATATATAT ATTTGTATATATATATAAATATATATATTTGTATATATATTTATATATAT ATATTTGTATATATATTTATATATAAATATATATATAAATATATATATTT ATATATAAATACATATATTTATATATTTATATATAAATATATGTATTTAT ATAAATTTATATATATATATATTTATATATAAATATATATATATATAAAT ATATATATTTATATATATTTATATATAAATATATATATTTATATATATTT ATATATAAATATATATATATAAATATATATATTTATATATATATATATTT ATATATATTTATATATAAATATATATATATAAATATATATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	26/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DOCK1_chr10_126900428_127457516	127396913	G G	GAGTTACA others(411): Show GAGTTACACGGGCAGCGACTCCTATGTGATCTGAGCATGAGTTACATGGG CAGTGTCTCCTATGTGATCTGAGCATCAGTTACACGGGCAGTGTCTCCTA TGTGATCTGAGCATGAGTTACACGGGCGGTGTCTCCTATGTGATCTGAGC ATGAGTTACACGGGCAGCGACTCCTATGTGATCTGAGCATCAGTTACACG GGCAGCGACTCCTATGTGATCTGAGCATAAGTTACACGGGCAGTGTCTCC TATGTGATCTGAGCATGAGTTACACGGGCGGCGACTCCTATGTGAACTGA GCATGAGTTACATGGGCGGTGTCTCCTATGTGATCTGAGCATGAGTTACA CGGGTGGTGTCTCCTATGTGATCTGAGCATGAGTTACACGGGCAGTGTCT CCTATGTGATCTGAGCATC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0085 a0001c0007t0001g0085	1	134	0.0075	418	c.392 others(437): Show c.3928-6097_3928-6096insTGGGCAGTGTCTCCTATGTGATCTGA GCATCAGTTACACGGGCAGTGTCTCCTATGTGATCTGAGCATGAGTTACA CGGGCGGTGTCTCCTATGTGATCTGAGCATGAGTTACACGGGCAGCGACT CCTATGTGATCTGAGCATCAGTTACACGGGCAGCGACTCCTATGTGATCT GAGCATAAGTTACACGGGCAGTGTCTCCTATGTGATCTGAGCATGAGTTA CACGGGCGGCGACTCCTATGTGAACTGAGCATGAGTTACATGGGCGGTGT CTCCTATGTGATCTGAGCATGAGTTACACGGGTGGTGTCTCCTATGTGAT CTGAGCATGAGTTACACGGGCAGTGTCTCCTATGTGATCTGAGCATCAGT TACACGGGCAGCGACTCCTATGTGATCTGAGCATGAGTTACA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DUSP8_chr11_1549051_1577271	1551134	C C	CCCACCCC others(411): Show CCCACCCCATTCATCCCTCTACCCATTCATCCATCTGCCCATCCATCCAT CCACCCACCCGCCCACCCCACTCATCCCTCTACCCATTCATTCATCTGCC CATCCATCCATCCATCCACCCACCCACCCCACTCATCCCTCTACCCATTC GTCCATCTGCCCATCCATCCATCCATCCACCCACCCATCCACCCCACTCA TCCCTCTACCCATTCGTCCATCTGCCCATCCATCCATCCATCCACCCACC CATCCACCCCACTCATCCCTCTACCCATTCATCATCTGCCTATCCATCCA TCCAACCACCCACCCCACTCATCCCTCTACCCATTCATCCATTTGCTCAT CCATCCATCCACCCACCCACCCCACTCATCCCTCTACCCATTCATCCATC TGCCCATCCATCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01261.hp2 others(7): Show HG00741.hp2 HG01081.hp1 HG01261.hp2 HG01358.hp2 HG02148.hp2 HG02273.hp2 HG02602.hp2 HG03927.hp1 HG03942.hp2 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0019 a0001c0002t0003 a0001c0002t0019	a0001c0002t0003g0009 a0001c0002t0003g0024 a0001c0002t0003g0053 others(3): Show a0001c0002t0003g0009 a0001c0002t0003g0024 a0001c0002t0003g0053 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0019g0054	10	181	0.0552	418	c.53 others(429): Show c.5383_*5384insATGGATGGATGGATGGGCAGATGGATGAATGGGT AGAGGGATGAGTGGGGTGGGTGGGTGGATGGATGGATGAGCAAATGGATG AATGGGTAGAGGGATGAGTGGGGTGGGTGGTTGGATGGATGGATAGGCAG ATGATGAATGGGTAGAGGGATGAGTGGGGTGGATGGGTGGGTGGATGGAT GGATGGATGGGCAGATGGACGAATGGGTAGAGGGATGAGTGGGGTGGATG GGTGGGTGGATGGATGGATGGATGGGCAGATGGACGAATGGGTAGAGGGA TGAGTGGGGTGGGTGGGTGGATGGATGGATGGATGGGCAGATGAATGAAT GGGTAGAGGGATGAGTGGGGTGGGCGGGTGGGTGGATGGATGGATGGGCA GATGGATGAATGGGTAGAGGGATGAATGGGGTGG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2916		chr11	TogoVar
DYM_chr18_49031387_49465645	49440824	A A	AATATATG others(411): Show AATATATGACTATATATTATATATTTATATAATATATGACTATATATTAT ATATTTATATAATATATGACTATATATTATATATTTATATAATATATGAC TATATATTATATATTTATATAATATATGACTATATATTATATATTTTATA TAATATATGACTATATATTATATATTTATATAATATATGACTATATATTA TATATTTATATAATATATGACTATATATTATATATTTATATAATATATGA CTAATATATTATATATTTATATAATATATGACTATATATTATATATTTAT ATAATATATGACTATATATTATATATTTATATAATATATGACTATATATT ATATATTTATATAATATATTTATATAAATACATTATATTTTATATATTTA TATAAATACATTATATTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	273	0.0037	418	c.-53 others(437): Show c.-53-10378_-53-10377insAAAATATAATGTATTTATATAAATAT ATAAAATATAATGTATTTATATAAATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATATTATATAAATATATAATATATTAGTCATATA TTATATAAATATATAATATATAGTCATATATTATATAAATATATAATATA TAGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAAA TATATAATATATAGTCATATATTATATAAATATATAATATATAGTCATAT ATTATATAAATATATAATATATAGTCATATATTATATAAATATATAATAT ATAGTCATATATTATATAAATATATAATATATAGTCATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EHMT1_chr9_137614005_137841127	137819425	C C	CTGAGGGG others(411): Show CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCTGATTGAGGGGCGCC GTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGAC TGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAG ACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGG CCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGG CGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCG AGACCGTAGAGAGGCCGAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01169.hp1 NA20905.hp1 HG01106.hp2 HG01169.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0018 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0018	3	108	0.0278	418	c.354 others(437): Show c.3540+1298_3540+1299insGTGTACCGAGACCGTAGAGAGGCTGA TTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCC GTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCG CCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGG CGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3331307	T T	TTCAGCAG others(411): Show TTCAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTGAGCAGAGGC AGGTGTGTATACACTCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATAC ACTCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATACACTCATGAGATG GTGTCAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTCAGCAGAG GCAGGTGTGTATACACTCATGAGATGGTGTGAGCAGAGGCAGGTGTGTAT ACACTCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATACACTCATGAGA TGGTGTGAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTCAGCAG AGGCAGGTGTGTATACACTCATGAGATGGTGTCAGCAGAGGCAGGTGTGT ATACACTCATGAGATGGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03492.hp1 HG00741.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0069 a0001c0001t0003g0070 a0001c0001t0002g0069 a0001c0001t0003g0070	2	88	0.0227	418	c.259 others(435): Show c.259+6709_259+6710insCACCATCTCATGAGTGTATACACACCTG CCTCTGCTGACACCATCTCATGAGTGTATACACACCTGCCTCTGCTGACA CCATCTCATGAGTGTATACACACCTGCCTCTGCTCACACCATCTCATGAG TGTATACACACCTGCCTCTGCTCACACCATCTCATGAGTGTATACACACC TGCCTCTGCTCACACCATCTCATGAGTGTATACACACCTGCCTCTGCTGA CACCATCTCATGAGTGTATACACACCTGCCTCTGCTGACACCATCTCATG AGTGTATACACACCTGCCTCTGCTCACACCATCTCATGAGTGTATACACA CCTGCCTCTGCTCACACCATCTCATGAGTGTATACACACCTGCCTCTGCT CACACCATCTCATGAGTGTATACACACCTGCCTCTGCTGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(411): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT AATATGTTATATTATATATTATATTATATATAATAATATGTAATATATAA TTATATTATATACTATTATAATAATTATAATAATATTAATATTATATTAT AATTATAATAGACACATATAATAATAATTATAATTAGCAGATTATTTTAT AATAATATTATATAATATGTATTAATAACATATAATATAATATACAATCT ATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	4	0.2500	418	c.40 others(429): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATATTAA TATTATTATAATTATTATAATAGTATATAATATAATTATATATTACATAT TATTATATATAATATAATATATAATATAACATATTATATATTATTATATA TAATATAATATATAATATATTATTATATATAATATAATATATAATATATT ATATATTATAATAATATATATGTTATGTAATATATAATATATTATATATA ATAATATATAATATAATATATAATATATTAAGATTATATATGATATGTAA TATATATAATTATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(411): Show GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAG AGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0307 a0001c0001t0004g0307	1	224	0.0045	418	c.39 others(429): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGC CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCT CCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCCGTCTCCC TCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTC CCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLT3_chr13_27998274_28105576	27999069	G G	GTATATAA others(411): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACAAACATATAAA TATATATATTTATATACATATAATACATATACATATATACATATAAATAT ATATTTATATATATAAATATATATATTTATATATATAAATATATATATTT ATATATATATAAATATATATATTTATATATATATACATATAAATATATAT TTATATACATATAAATATATAATTATATACATATAAATATATATAATTAT ATACATATAAATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02723.hp2 HG02622.hp1 HG02723.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0041 a0002c0002 a0010c0041	a0002c0002t0002 a0010c0041t0002 a0002c0002t0002 a0010c0041t0002	a0002c0002t0002g0131 a0010c0041t0002g0184 a0002c0002t0002g0131 a0010c0041t0002g0184	2	169	0.0118	418	c.49 others(429): Show c.4982_*4983insAATATATATTTATATGTATATAATTATATATATT TATATGTATATAATTATATATTTATATGTATATAAATATATATTTATATG TATATATATATAAATATATATATTTATATATATATAAATATATATATTTA TATATATAAATATATATATTTATATATATAAATATATATTTATATGTATA TATGTATATGTATTATATGTATATAAATATATATATTTATATGTTTGTAA ATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATAT TTATATGTATATAATATACATACATATATATTATATACATATATATTTAT ATGTATATAATATACATACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4204		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71396963	T T	TACACACA others(411): Show TACACACATATATATGTGTGTATATATATATATACACACATATATGTGTG TGTATATATATATATACACATATATATGTGTGTGTATATATATATACACA TATATATGTGTATATATATATACATATATATGTGTATATATATATACATA TATATATGTGTATATATATATATACACACATATATATATGTGTATATATA TATACACATATATATGTGTATATATATACATATATATGTGTATATATATA CACATATATATATGTGTATATATATACATATATATGTGTATATACATATA CATATATGTGTATATACATATACATATATATATGTGTATATACATATACA TATATATATGTGTATATACATATACATATATGTGTATATACATATACATA TATATATATGTGTATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0080 a0001c0001t0061g0080	1	92	0.0109	418	c.-16 others(439): Show c.-167-37720_-167-37719insGTATATACACATATATATATATGT ATATGTATATACACATATATGTATATGTATATACACATATATATATGTAT ATGTATATACACATATATATATGTATATGTATATACACATATATGTATAT GTATATACACATATATATGTATATATATACACATATATATATGTGTATAT ATATACACATATATATGTATATATATACACATATATATGTGTATATATAT ATACACATATATATATGTGTGTATATATATATATACACATATATATATGT ATATATATATACACATATATATGTATATATATATACACATATATATGTGT ATATATATATACACACACATATATATGTGTATATATATATATACACACAC ATATATGTGTGTATATATATATATACACACATATATATGTGTGT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1317225	C C	CCCTCCCC others(411): Show CCCTCCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTC CCCCCGCCCACCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCA CCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCATC CCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCT CCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCC CCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCC CAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCT ACCCCTCCCCCCGCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCG CCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0000 a0004c0003t0001g0000	1	305	0.0033	418	c.33 others(429): Show c.3309_*3310insCCTCCCCCCCACCCATCCCTCCTCCCGCCCCCCC TCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCCTCCAGC CTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCC CTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCC CCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCC ACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTC CTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCC CGCCCCCTCCAGCCTACCCCTCCCCCCGCCACTTCTCCCGCCCCCCCAGC CTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2468		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(411): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCA TCCCTCCTCCCGCCCCACCCTCCAGCCTACCCCTCCCCCCGCCCACCCCC TCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCC GCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCCTCCCGCCCCC CTCCAGCCTACCCCTCCCCCCGCCCACCCCCCTCCTCCCGCCTCCCCCCC AGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCTA TCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCG CCCACCCCCCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	114	0.0088	418	c.33 others(429): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCACCCATCCCTCCTCCCGCCCCACCCTCCAGCCTACCCCTC CCCCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCA CCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCAC CCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCCTCC TCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCC GCCCCCTCCAGCCTATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGC CTACCCCTCCCCCCGCCCACCCCCCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(411): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACA CTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA TATAGTGTATATATACACTATATATACACTATATAGTGTATATATAGTAT ATATATACTGTATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03942.hp1 NA20805.hp1 HG02698.hp1 HG03942.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0055 a0001c0001t0001g0200 a0001c0001t0001g0018 a0001c0001t0001g0055 a0001c0001t0001g0200	3	57	0.0526	418	c.114 others(437): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATATATAGTGTATATATACACTATATATAC ATATACAGTGTATATATACACTATATATACACTATATATGTATATATATA CATATATAGTGTATATATAGTGTATATATACTATATATATAGTGTATATA TACTATATATATAGTGTATATACACTATATATATAGTGTATATATACTAT ATATAGTGTATATATACTATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(411): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCG CCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTC CCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCC CTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCC CTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGT CCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCC CTCCCCTCCTTCCCCCTTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0258 a0001c0001t0002g0259	2	224	0.0089	418	c.972 others(433): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCACCTT CCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCA CCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTC CCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(411): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCG CCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTC CCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCC CTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCT CCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCC TCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCC CTCCCCTCCTTCCCCCTTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01928.hp1 HG01934.hp2 others(11): Show HG00438.hp2 HG01928.hp1 HG01934.hp2 HG02135.hp1 HG02155.hp2 HG03688.hp1 HG03831.hp2 HG04204.hp1 NA18995.hp1 NA19011.hp1 NA19012.hp1 NA19067.hp2 NA19077.hp2 NA19082.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0004c0007t0002 a0001c0001t0002 a0004c0007t0002	a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 others(11): Show a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0004c0007t0002g0144	14	236	0.0593	418	c.972 others(433): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTC CCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(411): Show TCCCGTCCTTCCCCATCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCTTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC TCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0004 a0006c0009t0004	a0006c0009t0004g0167 a0006c0009t0004g0167	1	102	0.0098	418	c.972 others(433): Show c.972+266_972+267insGTCCTTCCCCATCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(411): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCTTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC TCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19004.hp1 NA18982.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0183 a0001c0001t0004g0163 a0001c0001t0004g0183	2	103	0.0194	418	c.972 others(433): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar

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