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
ARHGAP39_chr8_144524179_144690846	144687249	G G	GGTGAGCA others(632): Show GGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCC ACCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTG ACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCG GTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACA TTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACT TCCCACCCCGTGACCACTCATTTACAGTGAACACTTCCCACCCCGTGACC ACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTG AGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCC CGTGACCACACACTAGCAGTGAGCACTTCCCACCCCCGTGACCACACACT AGCGGTGAGCACTTCCCACCCCCGTGACCACGCACTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0226 a0001c0002t0001g0226	1	221	0.0045	639	c.-16 others(650): Show c.-1646_-1645insTGCTAGTGCGTGGTCACGGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTAGTGTGTG GTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCA GTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGAGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGTTCAC TGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTC ACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACC GCCAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCA CGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTG CTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1404		chr8	TogoVar
AVL9_chr7_32490489_32593726	32571892	A A	AGTGGCTC others(632): Show AGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGG TCACAAGGTCAAGACATCGAGACCATCCTGGCTAACATGGTGAAATCCCA TCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCAGGTGCCTGTA ATCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGTG GCAGAGGTTGCAGGGAGCCGAGATCGTGCCACTGCACTCCAGCTTGGGCG ATAGAGTGAAATTCTGTCTCAAAAAAAAAAGAAAAAAAAAAAATTCAGCC ACACTGAGGTTTTTGTAGTTTCTGACAGAAAGTATGAAAACATGTTTCTT GGGTGAATGGTTATAATATAATGAAAGTCCAGGATTCAAAGATGTATTTA TTATAATCCCAAATTTGAAGAAGAAAAAGTATATACATTTTCCAAGACAG GAGGATACAGATGGGAGGACCATAAAGCTGCTTCAAGATTATTGGTTACA TTCTAGTTCTGTAGTTGGTTGGTGGGTTCATAGGAATTTCTTTTATTATT ATACTTCAAAACTAACCTGTAAGTTACATGTATTTTTTAGTATATCAAAT ATTACATAATAAGATATTCTAAAGTATCTGGCCGGGCACG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0252 a0001c0001t0071g0252	1	328	0.0030	639	c.135 others(656): Show c.1351-823_1351-822insAGATTATTGGTTACATTCTAGTTCTGTA GTTGGTTGGTGGGTTCATAGGAATTTCTTTTATTATTATACTTCAAAACT AACCTGTAAGTTACATGTATTTTTTAGTATATCAAATATTACATAATAAG ATATTCTAAAGTATCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCAAGGTGGGCGGGTCACAAGGTCAAGACATCGAGACC ATCCTGGCTAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTA GCTGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACGCGGGAGGCTGAG GCAGGAGAATCGCTTGAACCCGGGTGGCAGAGGTTGCAGGGAGCCGAGAT CGTGCCACTGCACTCCAGCTTGGGCGATAGAGTGAAATTCTGTCTCAAAA AAAAAAGAAAAAAAAAAAATTCAGCCACACTGAGGTTTTTGTAGTTTCTG ACAGAAAGTATGAAAACATGTTTCTTGGGTGAATGGTTATAATATAATGA AAGTCCAGGATTCAAAGATGTATTTATTATAATCCCAAATTTGAAGAAGA AAAAGTATATACATTTTCCAAGACAGGAGGATACAGATGGGAGGACCATA AAGCTGCTTCA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32572421	G G	GTAGGAAT others(632): Show GTAGGAATTTTTTTTATTATTATACTTCAAAACTAACCTGTACGTTACAT GTATTTTTTAGTATATCAAATATTACATAATAAGACATTCTAAAGTATCT GGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAA GGTGGGCGGGTCACAAGGTCAAGACATCGAGACCATCCTGGCTAACATGG TGAAATCCCATCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCA GGTGCCTGTAATCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATCGCTTG AACCCGGGTGGCAGAGGTTGCAGGGAGCCGAGATCGTGCCACTGCACTCC AGCTTGGGCGATAGAGTGAAATTCTGTCTCAAAAAAAAAAGAAAAAAAAA AAATTCAGCCACACTGAGGTTTTTGTAGTTTCTGACAGAAAGTATGAAAA CATGTTTCTTGGGTGAATGGTTATAATATAATGAAAGTCCAGGATTCAAA GATGTATTTATTATAATCCCAAATTTGAAGAAGAAAAAGTATATACATTT TCCAAGACAGGAGGATACAGATGGGAGGACCATAAAGCTGCTTCAACATT ATTGGTTACATTCTAGTTCTGTAGTTGGTTGGTGGGTTCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0240 a0001c0001t0103g0240	1	138	0.0072	639	c.135 others(656): Show c.1351-769_1351-768insTTTTTATTATTATACTTCAAAACTAACC TGTACGTTACATGTATTTTTTAGTATATCAAATATTACATAATAAGACAT TCTAAAGTATCTGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCAAGGTGGGCGGGTCACAAGGTCAAGACATCGAGACCATCC TGGCTAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCTG GACATGGTGGCAGGTGCCTGTAATCCCAGCTACGCGGGAGGCTGAGGCAG GAGAATCGCTTGAACCCGGGTGGCAGAGGTTGCAGGGAGCCGAGATCGTG CCACTGCACTCCAGCTTGGGCGATAGAGTGAAATTCTGTCTCAAAAAAAA AAGAAAAAAAAAAAATTCAGCCACACTGAGGTTTTTGTAGTTTCTGACAG AAAGTATGAAAACATGTTTCTTGGGTGAATGGTTATAATATAATGAAAGT CCAGGATTCAAAGATGTATTTATTATAATCCCAAATTTGAAGAAGAAAAA GTATATACATTTTCCAAGACAGGAGGATACAGATGGGAGGACCATAAAGC TGCTTCAACATTATTGGTTACATTCTAGTTCTGTAGTTGGTTGGTGGGTT CATAGGAATTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS5_chr2_169474494_169511655	169484989	T T	TAAAAATC others(632): Show TAAAAATCCTAGAGATTGTAGGAGATATACCAAGAGCAAAGAAAAAGGCA AACAGAGGTGGTTGGTGGTTTTATATGGCAAACCCTTCCCACTCCATAAT TTCTCCTGGGACCGACAGAAAAATATAAAAGAATCAATAGATGTCCTGAG CCCATAGCCCACTTGTAAAGATAAAATGTTGCCTAGGTAAAATGGCGTAA GGAAAACAGGTATATCTATATAAAAACCAAAAAAAGTTAAAAATGAGTTT GCAAAGGATTATTTTTTAAATAGCTATTATTTGGGGAATGTTTATTGACA GTCACTGTTCTGAATCTTTTATATAAATATAATCTCGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	372	0.0027	639	c.143 others(656): Show c.143-1745_143-1744insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATCCTAGAGATTGTAGGAGA TATACCAAGAGCAAAGAAAAAGGCAAACAGAGGTGGTTGGTGGTTTTATA TGGCAAACCCTTCCCACTCCATAATTTCTCCTGGGACCGACAGAAAAATA TAAAAGAATCAATAGATGTCCTGAGCCCATAGCCCACTTGTAAAGATAAA ATGTTGCCTAGGTAAAATGGCGTAAGGAAAACAGGTATATCTATATAAAA ACCAAAAAAAGTTAAAAATGAGTTTGCAAAGGATTATTTTTTAAATAGCT ATTATTTGGGGAATGTTTATTGACAGTCACTGTTCTGAATCTTTTATATA AATATAATCTC	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(632): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATG CTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGA TGGTGGTGATGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATG GTGGTGATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	86	0.0116	639	c.21 others(654): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCA CCATCACCACCATCACCACCATCACCACCATCATCACCACCACCACCACC ATCACCACCATCATCACCATCACCACCACCACCACCACCACCATCACCAT CACCACCACCATCACCACCATCACCGTCACCACCATCACCACCACCACCA TCACCACCAGCATCACCATCACCACCACCATCACCACCACCATCACCACC ATCATCACTATCACCACCATCACCACCATCATCACCACCACCACCACCAC CATCACCACCACCATCACCACCATCACCATCACCACCATCATCACCACCA CCGTCACCCCCATCATTACCATCACCACCACCACCACCACCACCATGACC ACCACCACCACCACTCTCACCATCATCATCACTGTCACCACCACCACCAC CACCACCACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCCA CCACTACCACCCCCACCACCACTCTCACCACCATCACCATCACCCCATCA TCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(632): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATG GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGA TGGTGGTGATGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATG GTGGTGATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp2 HG02897.hp1 others(8): Show HG01109.hp2 HG02615.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03579.hp1 NA18522.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0001 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0001t0001g0123 others(5): Show a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0184 a0001c0001t0009g0016 a0001c0001t0009g0171 a0001c0001t0009g0183 a0001c0001t0014g0044	11	96	0.1146	639	c.21 others(654): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCA CCATCACCACCATCACCACCATCACCACCATCATCACCACCACCACCACC ATCACCACCATCATCACCATCACCACCACCACCACCACCACCATCACCAT CACCACCACCATCACCACCATCACCGTCACCACCATCACCACCACCACCA TCACCACCACCATCACCATCACCACCACCATCACCACCACCATCACCACC ATCATCACTATCACCACCATCACCACCATCATCACCACCACCACCACCAC CATCACCACCACCATCACCACCATCACCATCACCACCATCATCACCACCA CCGTCACCCCCATCATTACCATCACCACCACCACCACCACCACCATGACC ACCACCACCACCACTCTCACCATCATCATCACTGTCACCACCACCACCAC CACCACCACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCCA CCACTACCACCCCCACCACCACTCTCACCACCATCACCATCACCCCATCA TCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
COL18A1_chr21_45400165_45518720	45501012	G G	GTTTGGTG others(632): Show GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0100 a0002c0100	a0002c0100t0001 a0002c0100t0001	a0002c0100t0001g0116 a0002c0100t0001g0116	1	127	0.0079	639	c.268 others(658): Show c.2684-2999_2684-2998insTTTGGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTT GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTTGGGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(632): Show GGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGG GCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18906.hp2 HG01891.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0030 a0001c0003 a0002c0030	a0001c0003t0001 a0002c0030t0003 a0001c0003t0001 a0002c0030t0003	a0001c0003t0001g0095 a0002c0030t0003g0186 a0001c0003t0001g0095 a0002c0030t0003g0186	2	172	0.0116	639	c.85- others(656): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTC CTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTG CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTGCCTGCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(632): Show GGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGG GCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0096 a0004c0005t0001g0096	1	171	0.0058	639	c.85- others(656): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTC CTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTG CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTGCCTGCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(632): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGA AGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAG GGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0189 a0001c0001t0040g0189	1	164	0.0061	639	c.923 others(658): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCC CCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTC CATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCCTC CCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK2_chr4_150073445_150262438	150251263	A A	ACCCCCAC others(632): Show ACCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCC CACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACAC CCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCC ACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATC CCCCACACCTCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCA CACCCCCCACACCCCCCACACCCCCCACACCCCCCACATCCCCCACACCC CCCACATCCCCCACACCCCCACACCCCCCACACCCCCCACACCCCCCACA CCCCCACACATCCCCCCACACCCCCACACATCCCCCACACCCACACATCC CCCACACCCCCCACATCCCCCACACCCCCCACACCCCCCACACCCCCCAC ACCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCC CCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACA CCCCCCACATCCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCC CCATACCCCTCACATCCCCCACATCCCCCACACCACACAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0032 a0002c0008t0006g0032	1	102	0.0098	639	c.207 others(658): Show c.2073+1579_2073+1580insCCCCCACACCCCCCACATCCCCCACA CCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCC CACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACAT CCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCC ACATCCCCCACACCCCCCACATCCCCCACACCTCCCACATCCCCCACACC CCCCACATCCCCCACACCCCCCACACCCCCCACACCCCCCACACCCCCCA CACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCACACCCC CCACACCCCCCACACCCCCCACACCCCCACACATCCCCCCACACCCCCAC ACATCCCCCACACCCACACATCCCCCACACCCCCCACATCCCCCACACCC CCCACACCCCCCACACCCCCCACACCCCCCACACCCCCCACATCCCCCAC ACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCC CCACACCCCCCACATCCCCCACACCCCCCACATCCCCCCACACCCCCCAC ATCCCCCACACCCCCCACATCCCCCATACCCCTCACATCCCCCACATCCC CCACACCACACAT	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(632): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	279	0.0036	639	c.-42 others(650): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(632): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCTCCT TCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACC ACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCTCCACCAT CATCACCACCTCCTTCACCACCACCACCATCTTCACCATCACCACCACCT CCACCATCACCACCACCTCCACTATCACCACCACCACCTCCATCACCACC ACCACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTAC CACCACCATCTTCACCATCACCACCACCTCCACCATCATCACCACCTCCT TCACCACCACCACCATCTTCACCATCACCACCACCTCCACCATCACCACC ACCTCCACTATCACCACCACCTCCATCACCACCACCACCACCTCCACCAC CACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCA TCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCGTC ACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCC CACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0107 a0002c0107	a0002c0107t0001 a0002c0107t0001	a0002c0107t0001g0073 a0002c0107t0001g0073	1	155	0.0065	639	c.323 others(658): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCTCCTCCAC CACCACCACCACCTCCACCACCACCTCCTCCACTACCACCACCATCTTCA CCATCACCACCACCTCCACCATCATCACCACCTCCTTCACCACCACCACC ATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACTATCAC CACCACCACCTCCATCACCACCACCACCTCCTCCACCACCACCACCACCT CCACCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACC TCCACCATCATCACCACCTCCTTCACCACCACCACCATCTTCACCATCAC CACCACCTCCACCATCACCACCACCTCCACTATCACCACCACCTCCATCA CCACCACCACCACCTCCACCACCACCACCACCTCCACCACCAGCACTTCC ACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCA CCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCT ATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(632): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCG TGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	224	0.0045	639	c.215 others(656): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAG GAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(632): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCG TGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	224	0.0045	639	c.215 others(656): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAG GAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGATGGT others(632): Show GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGATGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGATGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0250 a0001c0004t0005g0250	1	230	0.0043	639	c.190 others(658): Show c.1909+7133_1909+7134insATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGAGGTGGTG ATGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FGF21_chr19_48750524_48763330	48758867	T T	TCCCAGCA others(632): Show TCCCAGCACTTTGGGAGACCCAGGCGGGCAAATCACCTGAGGTCAGGAGT TCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATAC AAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATCGCTTGAATCCCGGAGGTGGAGGTTGCAGTGA GCTGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAA AAAGTCTCAAAATAAATAAATAAGTAAACAAATAAATAAAATAAGACCAG GCACCATGGCTTACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGG TGGATTGCCTGAGGTCAGGAGTTAGAGCAGCCTGGCCAACACAGTGAAAC CCCATCTCTACTAAAAATACAAAAACTAGCCAGACGTGGTGGCGGACGTC TGTTGTCCCAGCTACTCGGGGGGGGGCTGAGGCAGAAGAATCACTTGAAC CTGGGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCCACTGTCCTCCAGC CTGAGTAGTACAGCAAGACTCTGTCTCAAAAAAATAATAAGTTAATTTAA AAAATACAAATAGCCAGGCGCGGTGGCTCACGCCTGTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	123	0.0081	639	c.64 others(648): Show c.647_*648insCCCAGCACTTTGGGAGACCCAGGCGGGCAAATCACC TGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCT CTACCAAAAATACAAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAATC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCCGGAGGTG GAGGTTGCAGTGAGCTGAGATCGAGCCATTGCACTCCAGCCTGGGCGACA GAGCAAGACTCAAAAAGTCTCAAAATAAATAAATAAGTAAACAAATAAAT AAAATAAGACCAGGCACCATGGCTTACGCCTGTAATCCCAGCACTTTGGG AAGCTGAGGCAGGTGGATTGCCTGAGGTCAGGAGTTAGAGCAGCCTGGCC AACACAGTGAAACCCCATCTCTACTAAAAATACAAAAACTAGCCAGACGT GGTGGCGGACGTCTGTTGTCCCAGCTACTCGGGGGGGGGCTGAGGCAGAA GAATCACTTGAACCTGGGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCC ACTGTCCTCCAGCCTGAGTAGTACAGCAAGACTCTGTCTCAAAAAAATAA TAAGTTAATTTAAAAAATACAAATAGCCAGGCGCGGTGGCTCACGCCTGT AAA	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding		538		chr19	TogoVar
FGF21_chr19_48750524_48763330	48758867	T T	TCCCAGCA others(632): Show TCCCAGCACTTTGGGAGACCCAGGCGGGCAAATCACCTGAGGTCAGGAGT TCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATAC AAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATCGCTTGAATCCCGGAGGTGGAGGTTGCAGTGA GCTGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAA AAAGTCTCAAAATAAATAAATAAGTAAACAAATAAATAAAATAAGACCAG GCACCATGGCTTACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGG TGGATTGCCTGAGGTCAGGAGTTAGAGCAGCCTGGCCAACACAGTGAAAC CCCATCTCTACTAAAAATACAAAAACTAGCCAGACGTGGTGGCGGGCGTC TGTTGTCCCAGCTACTCGGGGGGGGGCTGAGGCAGAAGAATCACTTGAAC CTGGGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCCACTGTCCTCCAGC CTGAGTAGTACAGCAAGACTCTGTCTCAAAAAAATAATAAGTTAATTTAA AAAATACAAATAGCCAGGCGCGGTGGCTCACGCCTGTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(179): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19075.hp1 NA19075.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0003c0011 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0012t0001 a0003c0011t0001 a0004c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0003g0003 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0042 a0001c0012t0001g0004 a0003c0011t0001g0004 a0004c0009t0002g0001	182	304	0.5987	639	c.64 others(648): Show c.647_*648insCCCAGCACTTTGGGAGACCCAGGCGGGCAAATCACC TGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCT CTACCAAAAATACAAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAATC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCCGGAGGTG GAGGTTGCAGTGAGCTGAGATCGAGCCATTGCACTCCAGCCTGGGCGACA GAGCAAGACTCAAAAAGTCTCAAAATAAATAAATAAGTAAACAAATAAAT AAAATAAGACCAGGCACCATGGCTTACGCCTGTAATCCCAGCACTTTGGG AAGCTGAGGCAGGTGGATTGCCTGAGGTCAGGAGTTAGAGCAGCCTGGCC AACACAGTGAAACCCCATCTCTACTAAAAATACAAAAACTAGCCAGACGT GGTGGCGGGCGTCTGTTGTCCCAGCTACTCGGGGGGGGGCTGAGGCAGAA GAATCACTTGAACCTGGGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCC ACTGTCCTCCAGCCTGAGTAGTACAGCAAGACTCTGTCTCAAAAAAATAA TAAGTTAATTTAAAAAATACAAATAGCCAGGCGCGGTGGCTCACGCCTGT AAA	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding		538		chr19	TogoVar
FGF21_chr19_48750524_48763330	48758867	T T	TCCCAGCA others(632): Show TCCCAGCACTTTGGGAGACCCAGGCGGGCAAATCACCTGAGGTCAGGAGT TCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATAC AAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATCGCTTGAATCCCGGAGGTGGAGGTTGCAGTGA GCTGAGATCGAGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCAA AAAGTCTCAAAATAAATAAATAAGTAAACAAATAAATAAAATAAGACCAG GCACCATGGCTTACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGG TGGATTGCCTGAGGTCAGGAGTTAGAGCAGCCTGGCCAACACAGTGAAAC CCCATCTCTACTAAAAATACAAAAACTAGCCAGACGTGGTGGCGGGCGTC TGTTGTCCCAGCTACTCGGGGGGGGGCTGAGGCAGAAGAATCACTTGAAC CTGGGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCCACTGTCCTCCAGC CTGAGTAGTACAGCAAGACTCTGTCTCAAAAAAATAATAAGTTAATTTAA AAAATACAAATAGCCAGGCGCGGTGGCTCACGCCTGTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	123	0.0081	639	c.64 others(648): Show c.647_*648insCCCAGCACTTTGGGAGACCCAGGCGGGCAAATCACC TGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCT CTACCAAAAATACAAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAATC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCCGGAGGTG GAGGTTGCAGTGAGCTGAGATCGAGCCATTGCACTCCAGCCTGGGTGACA GAGCAAGACTCAAAAAGTCTCAAAATAAATAAATAAGTAAACAAATAAAT AAAATAAGACCAGGCACCATGGCTTACGCCTGTAATCCCAGCACTTTGGG AAGCTGAGGCAGGTGGATTGCCTGAGGTCAGGAGTTAGAGCAGCCTGGCC AACACAGTGAAACCCCATCTCTACTAAAAATACAAAAACTAGCCAGACGT GGTGGCGGGCGTCTGTTGTCCCAGCTACTCGGGGGGGGGCTGAGGCAGAA GAATCACTTGAACCTGGGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCC ACTGTCCTCCAGCCTGAGTAGTACAGCAAGACTCTGTCTCAAAAAAATAA TAAGTTAATTTAAAAAATACAAATAGCCAGGCGCGGTGGCTCACGCCTGT AAA	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding		538		chr19	TogoVar
FGF21_chr19_48750524_48763330	48758867	T T	TCCCAGCA others(632): Show TCCCAGCACTTTGGGAGACCCAGGCGGGCAAATCACCTGAGGTCAGGAGT TCGAGACCAGCCTGGGCCAACATGGTGAAACCCCATCTCTACCAAAAATA CAAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAATCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATCGCTTGAATCCCGGAGGTGAGGTTGCAGTGA GCTGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGGCAAGACTCAAA AAGTCTCAAAATTAAATAAAAGTAAACAAAGTAAATAAAATAAGACCAGG CACCATGGCTTACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGT GGATTGCCTGAGGTCAGGAGTTAGAGCAGCCTGGCCAACACAGTGAAACC CCATCTCTACTAAAAATACAAAAACTAAGCCAGACGTGGTGGCGGGCATC TGTTGTCCAGCTACTCGGGGGGGGGGGCTGAGGCAGAAGAATCACTTGAA CTGGGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCCACTGTCCTCCAGC CTGAGTAGTACAGCAAGACTCTGTCTCAAAAAAATAATAAGTTAATTTAA AAAATACAAATAGCCAGGCGCGGTGGCTCACGCCTGTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	123	0.0081	639	c.64 others(648): Show c.647_*648insCCCAGCACTTTGGGAGACCCAGGCGGGCAAATCACC TGAGGTCAGGAGTTCGAGACCAGCCTGGGCCAACATGGTGAAACCCCATC TCTACCAAAAATACAAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAAT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCCGGAGGT GAGGTTGCAGTGAGCTGAGATCGAGCCATTGCACTCCAGCCTGGGCGACA GGCAAGACTCAAAAAGTCTCAAAATTAAATAAAAGTAAACAAAGTAAATA AAATAAGACCAGGCACCATGGCTTACGCCTGTAATCCCAGCACTTTGGGA AGCTGAGGCAGGTGGATTGCCTGAGGTCAGGAGTTAGAGCAGCCTGGCCA ACACAGTGAAACCCCATCTCTACTAAAAATACAAAAACTAAGCCAGACGT GGTGGCGGGCATCTGTTGTCCAGCTACTCGGGGGGGGGGGCTGAGGCAGA AGAATCACTTGAACTGGGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCC ACTGTCCTCCAGCCTGAGTAGTACAGCAAGACTCTGTCTCAAAAAAATAA TAAGTTAATTTAAAAAATACAAATAGCCAGGCGCGGTGGCTCACGCCTGT AAA	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding		538		chr19	TogoVar
FGF21_chr19_48750524_48763330	48758867	T T	TCCCAGCA others(632): Show TCCCAGCACTTTGGGAGACCCAGGCGGGGCAAATCACCTGAGGTCAGGAG TTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATA CAAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAATCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATCGCTTGAATCCCGGAGGTGGAGGTTGCAGTG AGCTGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCA AAAAGTCTCAAAATAAATAATAAGTGAAACAAATAAATAAAATAAGACCA GGCACCATGGCTTACGCCTGTAATCCAGCACTTTGGGAGCTGAGGCAGGT GGATTGCCTGAGGTCAGGAGTTAGAGCAGCCTGGCCAACACAGTGAAACC CCATCTCTACTAAAAATACAAAAACTAGCCAGACGTGGTGGCCGGGCGTC TGTTGTCCCAGCTACTCGGGGGGGGGCTGAGGCAGAAGAATCACTTGAAC CTGGGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCCACTGTCCTCCAGC CTGAGTAGTACAGCAAGACTCTGTCTCAAAAAAATAATAAGTTAATTTAA AAAATACAAATAGCCAGGCGCGGTGGCTCACGCCTGTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	123	0.0081	639	c.64 others(648): Show c.647_*648insCCCAGCACTTTGGGAGACCCAGGCGGGGCAAATCAC CTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATC TCTACCAAAAATACAAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAAT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCCGGAGGT GGAGGTTGCAGTGAGCTGAGATCGAGCCATTGCACTCCAGCCTGGGCGAC AGAGCAAGACTCAAAAAGTCTCAAAATAAATAATAAGTGAAACAAATAAA TAAAATAAGACCAGGCACCATGGCTTACGCCTGTAATCCAGCACTTTGGG AGCTGAGGCAGGTGGATTGCCTGAGGTCAGGAGTTAGAGCAGCCTGGCCA ACACAGTGAAACCCCATCTCTACTAAAAATACAAAAACTAGCCAGACGTG GTGGCCGGGCGTCTGTTGTCCCAGCTACTCGGGGGGGGGCTGAGGCAGAA GAATCACTTGAACCTGGGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCC ACTGTCCTCCAGCCTGAGTAGTACAGCAAGACTCTGTCTCAAAAAAATAA TAAGTTAATTTAAAAAATACAAATAGCCAGGCGCGGTGGCTCACGCCTGT AAA	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding		538		chr19	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CAGGGGGG others(632): Show CAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGC CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCG GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGG AGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGA GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCCGGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0196 a0001c0001t0006g0196	1	242	0.0041	639	c.157 others(654): Show c.1576+54_1576+55insAGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCGGAGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTCAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTCAAAGGTAGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCGGAGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(632): Show TATATATAGTATATATTTTATATATATTATATATTTTATATATAGTATAT ATTTTATATATAATATATATTTTATATATAATATATATATTTTATATATA ATATATATTATATATATTATATAAAATATATAATATATATTATATATATA TTATATAAAATATATGATATATATTTTATATATATCATATATTTTATATA TAATATATATTTTATATATATCATATATTTTATATATAATATATATTATA TATACATTATATAATATATATTATATTATATACATTATATATTATATAAT ATATATTATATATTATACGTAATATATAATGTATATTATATATAATATAT TATGTATATAATGTATATTATATGTAATATACATTATATATAATGTATAT TATATGTAATATACACATTATATATAATGTATATTATATGTAATATACAC ATTATATATAATGTATATTATATGTAATATATACATTATATATAATGTAT ATTATATGTAATATATACATTATATATAATGTATATTATATGTAATATAT ACATTATATATAATGTATATTATATGTAATATATACATTATATAATGTAT ATTATATGTAATATATACATTATATAATGTATATTATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0310 a0001c0002t0004g0310	1	309	0.0032	639	c.94- others(652): Show c.94-790_94-789insGTATATATTTTATATATATTATATATTTTATA TATAGTATATATTTTATATATAATATATATTTTATATATAATATATATAT TTTATATATAATATATATTATATATATTATATAAAATATATAATATATAT TATATATATATTATATAAAATATATGATATATATTTTATATATATCATAT ATTTTATATATAATATATATTTTATATATATCATATATTTTATATATAAT ATATATTATATATACATTATATAATATATATTATATTATATACATTATAT ATTATATAATATATATTATATATTATACGTAATATATAATGTATATTATA TATAATATATTATGTATATAATGTATATTATATGTAATATACATTATATA TAATGTATATTATATGTAATATACACATTATATATAATGTATATTATATG TAATATACACATTATATATAATGTATATTATATGTAATATATACATTATA TATAATGTATATTATATGTAATATATACATTATATATAATGTATATTATA TGTAATATATACATTATATATAATGTATATTATATGTAATATATACATTA TATAATGTATATTATATGTAATATATACATTATATAATGTATATTATATA ATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(632): Show TATATATAGTATATATTTTATATATATTATATATTTTATATATAGTATAT ATTTTATATATAATATATATTTTATATATAATATATATATTTTATATATA ATATATATTATATATATTATATAAAATATATGATATATATTATATATATA TTATATAAAATATATGATATATATTTTATATATATCATATATTTTATATA TAATATATATTTTATATATATCATATATTTTATATATAATATATATTATA TATACATTATATAATATATATTATATTATATACATTATATATTATATAAT ATATATTATATATTATACGTAATATATAATGTATATTATATATAATATAT TATGTATATAATGTATATTATATGTAATATACATTATATATAATGTATAT TATATGTAATATACACATTATATATAATGTATATTATATGTAATATACAC ATTATATATAATGTATATTATATGTAATATACACATTATATATAATGTAT ATTATATGTAATATATACATTATATATAATGTATATTATATGTAATATAT ACATTATATATAATGTATATTATATGTAATATATACATTATATAATGTAT ATTATATGTAATATATACATTATATAATGTATATTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0309 a0001c0002t0004g0309	1	309	0.0032	639	c.94- others(652): Show c.94-790_94-789insGTATATATTTTATATATATTATATATTTTATA TATAGTATATATTTTATATATAATATATATTTTATATATAATATATATAT TTTATATATAATATATATTATATATATTATATAAAATATATGATATATAT TATATATATATTATATAAAATATATGATATATATTTTATATATATCATAT ATTTTATATATAATATATATTTTATATATATCATATATTTTATATATAAT ATATATTATATATACATTATATAATATATATTATATTATATACATTATAT ATTATATAATATATATTATATATTATACGTAATATATAATGTATATTATA TATAATATATTATGTATATAATGTATATTATATGTAATATACATTATATA TAATGTATATTATATGTAATATACACATTATATATAATGTATATTATATG TAATATACACATTATATATAATGTATATTATATGTAATATACACATTATA TATAATGTATATTATATGTAATATATACATTATATATAATGTATATTATA TGTAATATATACATTATATATAATGTATATTATATGTAATATATACATTA TATAATGTATATTATATGTAATATATACATTATATAATGTATATTATATA ATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(632): Show TAAGAAAAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAG AAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAAGAAAAGAAAAGAA AAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0106 a0002c0003t0001g0106	1	233	0.0043	639	c.127 others(658): Show c.1278+2116_1278+2117insTTCTTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTTCT TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCTTTTCTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTC TTTTCTTTTCTTTTCTTTCTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTC TTTCTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(632): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGAGGGAGAA AGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGGG ACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAA GGGGAGGAGGGAGAAGTGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAGG AGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGG GAGAAAGGAGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGAG GAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	5	0.2000	639	c.-46 others(650): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCTCC TTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTC CCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCACTTCTCCCTC CTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTC TTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCT CCTCCTTTCTCCCTCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTC CTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTC TTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTC CCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(632): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGGAC AAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAAGG GGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAGGA GGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGGG AGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGAG GAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0036	1	5	0.2000	639	c.-46 others(650): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTC CTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCT CCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCC TCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCC TCTTTTGTCCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTC CTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTC CTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTC TTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTC CCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(632): Show CCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCAC CACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCG AAAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCT CCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACC ACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGA AAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAA CCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCC GAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTC CACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACTC ACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATC CCTCTCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCTCTCCAC CCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0168 a0001c0001t0009g0168	1	341	0.0029	639	c.64+ others(656): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGTTT GGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTG GGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGG GATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGATGGG GAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCG GGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGG TGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTG GAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTT CGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTT GGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF25_chr6_167992671_168050091	167997457	G G	GGGGGGCG others(632): Show GGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0221 a0003c0004t0001g0221	1	357	0.0028	639	c.-20 others(650): Show c.-2012_-2011insGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATC TGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCA GAGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		213		chr6	TogoVar
LAMC1_chr1_183018420_183150592	183149942	C C	CCTCTCCT others(632): Show CCTCTCCTCACACACCACACAGGTCACACCCCTCTCCTCCTCACACACCA CACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCC TCCTCACACACCACACAGCTCACACCCCTCTTCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTGCTCACACACCACACAGCTCACACCCGTCTCC TCCTCCCACACCACACAGCTCACACCCCTCTATCCTCTCACACCAGACAG CTCACACCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTCTATCC TCACACACCACACAGCCCACACCCCTCTATCCTCACACACCACACAGCCC ACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACA CACCACACAGCTCACACCGCTCTCCTCCTCACACACCACACAGCCCACAC CCCTCTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACC ACACAGGTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCT CTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACAC AGCTCACACCCCTCTTCCTCCTCACACACCACACAGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG03540.hp1 HG02896.hp2 HG03540.hp1	a0002 a0004 a0002 a0004	a0002c0021 a0004c0007 a0002c0021 a0004c0007	a0002c0021t0001 a0004c0007t0006 a0002c0021t0001 a0004c0007t0006	a0002c0021t0001g0221 a0004c0007t0006g0122 a0002c0021t0001g0221 a0004c0007t0006g0122	2	40	0.0500	639	c.71 others(650): Show c.7152_*7153insCTCTCCTCACACACCACACAGGTCACACCCCTCT CCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAG CCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTTCCT CCTCACACACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAG CTCACACCCGTCTCCTCCTCCCACACCACACAGCTCACACCCCTCTATCC TCTCACACCAGACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCT CACACCCCTCTATCCTCACACACCACACAGCCCACACCCCTCTATCCTCA CACACCACACAGCCCACACCCCTCTCCTCACACACCACACAGCTCACACC CCTCTCCTCCTCACACACCACACAGCTCACACCGCTCTCCTCCTCACACA CCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCCCACACCC CTCTCCTCACACACCACACAGGTCACACCCCTCTCCTCCTCACACACCAC ACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCT CCTCACACACCACACAGCTCACACCCCTCTTCCTCCTCACACACCACACA GCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4351		chr1	TogoVar
LY75_chr2_159798355_159909756	159874329	T T	TATATATA others(632): Show TATATATAAATATATATATGTTTTGTAAATATATATAAATATATATATGT TTTGTAAATATATATAAATATATATGTTTTGTAAATATATATAAATATAT GTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATATAAATAT ATATATGTTTTGTAAATATATAAATATATATTTTGTAAATATATATATAT TTTGTAAATATATATATATTTTGTAAATATATATATATTTTGTAAATATA TATATATTTTGTAAATATATATATATTTTGTAAATATATATTGTAAATAT ATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATATATAT ATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGTATATA TATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAAT ATATACATTTTGTAAATATATAAATATATACATTTTGTAAATATATAAAA ATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATATAAAA ATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATATATAT ATATTTTGTAAATATATATAAATATATACATATTTTGTAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00597.hp1 others(8): Show HG00544.hp1 HG00558.hp1 HG00597.hp1 HG02071.hp2 HG02132.hp2 NA18747.hp1 NA18970.hp2 NA18981.hp1 NA18983.hp1 NA18990.hp2 NA19084.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004	a0001c0003t0001g0255 a0001c0003t0003g0248 a0001c0003t0003g0257 others(8): Show a0001c0003t0001g0255 a0001c0003t0003g0248 a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0003t0003g0259 a0001c0003t0003g0260 a0001c0003t0003g0267 a0001c0003t0003g0270 a0001c0003t0003g0273 a0001c0003t0003g0276 a0001c0003t0004g0256	11	320	0.0344	639	c.197 others(658): Show c.1974+1114_1974+1115insTTACAAAATATGTATATATTTATATA TATTTACAAAATATATATATATTTACAAAATATATATATTTATATATTTA CAAAATATATATATTTTTATATATTTACAACATATATTTTTATATATTTA CAAAATGTATATATTTTTATATATTTACAAAATGTATATATTTATATATT TACAAAATGTATATATTTACAAAATATATATACATATTTACAAAATATAT ATATTTACAAAATATATATACATATTTACAAAATATATATATTTACTATA TATATTTACAAAATATATATATAATTTACAATATATATATAATTCACAAA ATATATATTTATATATATTTACAATATATATTTACAAAATATATATATAT TTACAAAATATATATATATTTACAAAATATATATATATTTACAAAATATA TATATATTTACAAAATATATATATATTTACAAAATATATATTTATATATT TACAAAACATATATATATTTATATATATTTACAAAACATATATATTTATA TATATTTACAAAACATATATTTATATATATTTACAAAACATATATATTTA TATATATTTACAAAACATATATATATTTATATATATTTACAAAACATATA TATATTTATATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MICAL3_chr22_17782649_18029561	17876968	G G	GGTTAGGG others(632): Show GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAA GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTAT GGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGA GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0059 a0009c0014t0001g0084 a0009c0014t0001g0059 a0009c0014t0001g0084	2	251	0.0080	639	c.224 others(658): Show c.2242-4946_2242-4945insTTCCCTAACCTCCCTAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCC CTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAAC CTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTTCCC TAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACC TCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTC CCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877207	T T	TGGAGGTT others(632): Show TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	165	0.0061	639	c.224 others(658): Show c.2242-5185_2242-5184insCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877441	G G	GGGAGGTT others(632): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGG GAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGA TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	264	0.0038	639	c.224 others(658): Show c.2242-5419_2242-5418insATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAATCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC ATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACC TCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACTTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCC CTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAAC CTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500173	A A	AGGTGGCA others(632): Show AGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATG GTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGT GGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGT GGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTG GCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGA TGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGGGGT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	226	0.0044	639	c.748 others(656): Show c.748+1828_748+1829insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTG GTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTG GTGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGAT GGGGGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(632): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0181	1	261	0.0038	639	c.91+ others(652): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGG TGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(632): Show AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG GGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GTCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAACCCCCCGCCCGGCCA GCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGG GGGGGTCAGCCCCCTGCCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0105 a0001c0001t0015g0105	1	59	0.0169	639	c.155 others(658): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCACCTCCCTC CTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGAC CCCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(632): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGG GGCTCCTCTGCCCGGCCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGC CAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAG GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	59	0.0169	639	c.155 others(658): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGC CGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(632): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGTTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGC TCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCC AGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGG GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	59	0.0169	639	c.155 others(658): Show c.155-27627_155-27626insCCCGGACGGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGAACC CCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(632): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCT GCCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTC GCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAAACCCCCCGCCCGGCCAGC CGCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGG GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	59	0.0169	639	c.155 others(658): Show c.155-27627_155-27626insCCCGGACGGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTTGACCCCCCCCACCTCC CTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGC CGACCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PDGFC_chr4_156755454_156976799	156847740	A A	AAATCTAA others(632): Show AAATCTAAAGTTATTCCAAATCTTAAAGTTTAAGTTAAAACGAAGAATAA AAGCAGGAATAGGATAAAGGTATATACTAATTCAATCAACAACATAATAA GAGATAGAAAAGGAACAGTAAAAGACTCGGAAGAAAAAAATCTTTCTTCT CACAGACGATATCATCTTTTGCATAAATAAAATATAATTTCCACAACAAC TGTCAAAATAAATGAAAAAGCTTAACAAGTTTTCTAGACATAAGATCAAT ACTAAAAAATTGATTGCATTTCTAAACACCAGCAATATACAGTTAGAAAA TGTAGTGTCAAAAAAAGATTTTAGCAATAGCCTATAAGGAATCTAGAACT AACACTAAATAATGGATGTGCAACATCATTATGAATAAAATTTTAAAACC ATATAGACATTAAACAAGACTCCAATAAATGGAGCAATGTAAATAAAGTT CTCCATCTGTAAATAAAGCAATGTAAATAAAGCAATGTAAATAAAGGACA GAGTCATTATTACTGTGATGTCAGTTCTCTTCAAAATGATCTATACATTC AATGTTCTTACAATAAAAATAACAACAGTAGTTTTCAATGAACTTTACAA CTATTTCTCAAGGTTGAAAACAGTAGCTTTCAATGAACTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02897.hp1 HG03516.hp2 HG02717.hp2 HG02897.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0121 a0001c0001t0008g0122 a0001c0001t0008g0171 a0001c0001t0008g0121 a0001c0001t0008g0122 a0001c0001t0008g0171	3	73	0.0411	639	c.314 others(656): Show c.314+2480_314+2481insGAGTTCATTGAAAGCTACTGTTTTCAAC CTTGAGAAATAGTTGTAAAGTTCATTGAAAACTACTGTTGTTATTTTTAT TGTAAGAACATTGAATGTATAGATCATTTTGAAGAGAACTGACATCACAG TAATAATGACTCTGTCCTTTATTTACATTGCTTTATTTACATTGCTTTAT TTACAGATGGAGAACTTTATTTACATTGCTCCATTTATTGGAGTCTTGTT TAATGTCTATATGGTTTTAAAATTTTATTCATAATGATGTTGCACATCCA TTATTTAGTGTTAGTTCTAGATTCCTTATAGGCTATTGCTAAAATCTTTT TTTGACACTACATTTTCTAACTGTATATTGCTGGTGTTTAGAAATGCAAT CAATTTTTTAGTATTGATCTTATGTCTAGAAAACTTGTTAAGCTTTTTCA TTTATTTTGACAGTTGTTGTGGAAATTATATTTTATTTATGCAAAAGATG ATATCGTCTGTGAGAAGAAAGATTTTTTTCTTCCGAGTCTTTTACTGTTC CTTTTCTATCTCTTATTATGTTGTTGATTGAATTAGTATATACCTTTATC CTATTCCTGCTTTTATTCTTCGTTTTAACTTAAACTTTAAGATTTGGAAT AACTTTAGATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156847740	A A	AAATCTAA others(632): Show AAATCTAAAGTTATTCCAAATCTTAAAGTTTAAGTTAAAACGAAGAATAA AAGCAGGAATAGGATAAAGGTATATACTAATTCAATCAACAACATAATAA GAGATAGAAAAGGAACAGTAAAAGACTCGGAAGAAAAAAATCTTTCTTCT CACAGACGATATCATCTTTTGCATAAATAAAATATAATTTCCACAACAAC TGTCAAAATAAATGAAAAAGCTTAACAAGTTTTCTAGACATAAGATCAAT ACTAAAAAATTGATTGCATTTCTAAACACCAGCAATATACAGTTAGAAAA TGTAGTGTCAAAAAAAGATTTTAGCAATAGCCTATAAGGAATCTAGAACT AACACTAAATAATGGATGTGCAACATCATTATGAATAAAATTTTAAAACC ATATAGACATTAAACAAGACTCCAATAAATGGAGCAATGTAAATAAAGTT CTCCATTTGTAAATAAAGCAATGTAAATAAAGCAATGTAAATAAAGGACA GAGTCATTATTACTGTGATGTCAGTTCTCTTCAAAATGATCTATACATTC AATGTTCTTACAATAAAAATAACAACAGTAGTTTTCAATGAACTTTACAA CTATTTCTCAAGGTTGAAAACAGTAGCTTTCAATGAACTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02486.hp1 HG02622.hp2 others(4): Show HG01123.hp1 HG02486.hp1 HG02622.hp2 HG02723.hp2 HG02965.hp1 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0032 a0001c0001t0010 a0001c0001t0012 a0001c0001t0032	a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0010g0009 others(4): Show a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0011 a0001c0001t0012g0181 a0001c0001t0012g0183 a0001c0001t0032g0010	7	77	0.0909	639	c.314 others(656): Show c.314+2480_314+2481insGAGTTCATTGAAAGCTACTGTTTTCAAC CTTGAGAAATAGTTGTAAAGTTCATTGAAAACTACTGTTGTTATTTTTAT TGTAAGAACATTGAATGTATAGATCATTTTGAAGAGAACTGACATCACAG TAATAATGACTCTGTCCTTTATTTACATTGCTTTATTTACATTGCTTTAT TTACAAATGGAGAACTTTATTTACATTGCTCCATTTATTGGAGTCTTGTT TAATGTCTATATGGTTTTAAAATTTTATTCATAATGATGTTGCACATCCA TTATTTAGTGTTAGTTCTAGATTCCTTATAGGCTATTGCTAAAATCTTTT TTTGACACTACATTTTCTAACTGTATATTGCTGGTGTTTAGAAATGCAAT CAATTTTTTAGTATTGATCTTATGTCTAGAAAACTTGTTAAGCTTTTTCA TTTATTTTGACAGTTGTTGTGGAAATTATATTTTATTTATGCAAAAGATG ATATCGTCTGTGAGAAGAAAGATTTTTTTCTTCCGAGTCTTTTACTGTTC CTTTTCTATCTCTTATTATGTTGTTGATTGAATTAGTATATACCTTTATC CTATTCCTGCTTTTATTCTTCGTTTTAACTTAAACTTTAAGATTTGGAAT AACTTTAGATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGG GTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp1 HG00558.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0088 a0001c0001t0001g0063 a0001c0001t0001g0088	2	162	0.0123	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG GTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	161	0.0062	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	161	0.0062	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	161	0.0062	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	161	0.0062	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTTGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	161	0.0062	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	161	0.0062	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGG GCGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PPP6R2_chr22_50338327_50450090	50397832	A A	AGGGGGGC others(632): Show AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG CTTTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCT TGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGG GGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0094 a0001c0002t0017g0094	1	126	0.0079	639	c.227 others(656): Show c.227+3702_227+3703insGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAG CCCTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGGGGGC AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar

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