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
VAT1_chr17_43009607_43027385	43017098	G G	GAGGTTGC others(593): Show GAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTTCAGCCTGGGCAAAA AGAGCGAAACTCCGTCTCAAAAAAAAAAAACAAAACAAAACAAACAAAAA AACCCACAACAATACAAAAATTAGCCAGGTATGGTGGCGTGCGCCCGCAG TCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATTGCTTGAATCCGGGAGG TGGAGGTTGCAGTGAGCCGAGATCGTGTCACTGCACTCCAGCCTGGGTGA CAGCCAGACTCTGTCTCAAGAAAAAGAAAAAAAAAAAAGCCAGGCGTGGA GATGGGCACCTGTAATTCCAGCTACTCAGGAGCCTGAGGCAGAACTGCTT GAACCAGGGAGGTGGATGCTGCAGAGAGCCGAGGTTGCGCCACTGCACTC CAGGATGGGTAACAGAGTGATATTCTGTCTCAAAAAAAAAAAAAATTGCT CTAATCTTTATGTATTTGCTTGTTTGTTCATTTGTTTGAGTCAGGGTCTC GCTCTGTTGCCCAGGCTGGAGTACAGTGCCACCACACCTGGCTAATTTTT GTATTTTTTGTGGAGATAAGGTTACACCATGTTGACCAGGCTGGTCTCGA A	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	80	0.0125	600	c.857 others(615): Show c.857-551_857-550insTTCGAGACCAGCCTGGTCAACATGGTGTAA CCTTATCTCCACAAAAAATACAAAAATTAGCCAGGTGTGGTGGCACTGTA CTCCAGCCTGGGCAACAGAGCGAGACCCTGACTCAAACAAATGAACAAAC AAGCAAATACATAAAGATTAGAGCAATTTTTTTTTTTTTTGAGACAGAAT ATCACTCTGTTACCCATCCTGGAGTGCAGTGGCGCAACCTCGGCTCTCTG CAGCATCCACCTCCCTGGTTCAAGCAGTTCTGCCTCAGGCTCCTGAGTAG CTGGAATTACAGGTGCCCATCTCCACGCCTGGCTTTTTTTTTTTTCTTTT TCTTGAGACAGAGTCTGGCTGTCACCCAGGCTGGAGTGCAGTGACACGAT CTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTTCTGCCT CAGCCTCCCAAGTAGCTGGGACTGCGGGCGCACGCCACCATACCTGGCTA ATTTTTGTATTGTTGTGGGTTTTTTTGTTTGTTTTGTTTTGTTTTTTTTT TTTGAGACGGAGTTTCGCTCTTTTTGCCCAGGCTGAAGTGCAGTGGCGCG ATCTCGGCTCACTGCAACCT	VAT1	ENSG00000108828.16	transcript	ENST00000355653.8	protein_coding	4/5			chr17	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(593): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	177	0.0056	600	c.53+ others(615): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
WDR64_chr1_241647281_241807777	241674903	C C	CTTTCCTC others(593): Show CTTTCCTCCCTTTCTCCCTCCCTCTCTTCCTTCCTTTCTTCTTCCTTCCC TCCCTCCTTCTTCTTTCCTTCCTTTTCTCCCTTCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTC CCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCC T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	321	0.0031	600	c.483 others(615): Show c.483+156_483+157insTTTCCTCCCTTTCTCCCTCCCTCTCTTCCT TCCTTTCTTCTTCCTTCCCTCCCTCCTTCTTCTTTCCTTCCTTTTCTCCC TTCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTGCCTCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(594): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCTTTTCTTTTCTTTT CT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0184 a0001c0003t0001g0184	1	209	0.0048	601	c.49- others(616): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(594): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	209	0.0048	601	c.49- others(616): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172176	G G	GGGATGGA others(594): Show GGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGCA TAAATGAGTGGGTGGGATGCATAAATGAGGTGGGATGGATAAATGAGTGG GTGGGATAGATAAATGAGTGGGTGGGATGGATAAATGAGGGGGTGGGATG GATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATA AATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTG GGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTG GGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCT AAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATGGATAAAT GAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGT GGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGC TAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGG TGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGG AT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18971.hp2 NA18949.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0337 a0001c0001t0001g0313 a0001c0001t0001g0337	2	351	0.0057	601	c.278 others(620): Show c.2787+1107_2787+1108insATCCCACCCACTCATTTAGCCATCCC ACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACCC ATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCC ATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACC CACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCACT CATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTAGC CATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTATCCATCCATCCCACCCACTCATTTATCCATCCCACCCAC TCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAT CCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCAT CCCACCCACTCATTTATCTATCCCACCCACTCATTTATCCATCCCACCTC ATTTATGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTTATCC ATCCCACCCACTCATTTATCCATCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGTGGG others(594): Show TGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGG ATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGATGGATAAATG AGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGGTGGGA TGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGA TAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATGAG TGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGG ATGGATAAATGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGG GTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGGAATGGATAAATG AGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTG GGATGGCTAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGAT AA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0040 a0040	a0040c0040 a0040c0040	a0040c0040t0001 a0040c0040t0001	a0040c0040t0001g0031 a0040c0040t0001g0031	1	90	0.0111	601	c.278 others(618): Show c.2787+965_2787+966insTTATCCATCCCACCCACTCATTTAGCCA TCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCC ACTCATTTATCCATCCCACCCACTCATTTATCCATTCCACCCACCCATTT ATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAGCCATCC CACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACC CATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATC CATCCATCCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCAT TTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTATCCATCCATCCCACCCCATTTATCCATCCCACCC ACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCTCATTTATG CATCCCACCCACTCATTTATGCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(594): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATATACTATATATAT TTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATAGT ATATATACTGTATATACTATATATATTTTATGTATAGTATATATACTGTA TA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0020 a0001c0011t0001g0020	1	30	0.0333	601	c.505 others(620): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATGCAGTATATATACTATA CATAAAATATATATAGTACATACTATACATAAAATATATATATAGTATAT ACAATGTACATACTATACATAAAATATATATAGTACATACTATACATAAA ATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(594): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0130 a0001c0001t0002g0131 a0001c0001t0001g0130 a0001c0001t0002g0131	2	31	0.0645	601	c.505 others(620): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATGCAGTATATATACTATA CATAAAATATATATAGTACATACTATACATAAAATATATATATAGTATAT ACAATGTACATACTATACATAAAATATATATAGTACATACTATACATAAA ATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
AHRR_chr5_316714_443285	318071	C C	CCTTGCCC others(594): Show CCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCC CCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCT CCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTC ACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCT CCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCT GCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTG CACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCC CCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCA CCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTC CCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCA CCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCC CTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0028 a0003c0004t0028	a0003c0004t0028g0006 a0003c0004t0028g0006	1	266	0.0038	601	c.-37 others(612): Show c.-3759_-3758insCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTC ACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCAC CTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCC CTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCC CCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTAC CTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCT CTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCAC CACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACC CTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCT CCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTC CCCCCTCCACTCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3642		chr5	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(594): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA TCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCC TGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACT CACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCC CGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCAT CTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTC ATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCC TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01928.hp2 HG01993.hp2 others(2): Show HG01167.hp2 HG01928.hp2 HG01993.hp2 NA18960.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0011	a0001c0001t0002g0178 a0001c0001t0002g0196 a0001c0001t0003g0199 others(2): Show a0001c0001t0002g0178 a0001c0001t0002g0196 a0001c0001t0003g0199 a0001c0001t0005g0179 a0002c0002t0011g0022	5	67	0.0746	601	c.-36 others(612): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCC TGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAAC CCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCC ATCTGCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCC TCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCC TCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCT CCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCAC CTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACC CTGCACCTCCCACCCTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
AHRR_chr5_316714_443285	344542	T T	TGTGTGTG others(594): Show TGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGG TGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGG CTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCT GTGGGGGGCTGTGTGTGTGGGGTGTGTGTGTGAGGCTGTGTGTGCGCGGG GGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTG TGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGT GTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTG TGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG TGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGT GTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGG GGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGA GCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTG GG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0083 a0001c0010t0005g0083	1	263	0.0038	601	c.62+ others(614): Show c.62+637_62+638insAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGAGGCTGTGGGGGGCTGTGTGTGTGGGGTGTGTGTGTGAGGCTGTGTG TGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGG GGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAG CTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGG GGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGG TGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGA GGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCG CGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGC TGTGTGTGGGGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGT GTGTGTGGGTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(594): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGAGGGGAGGAGGGAGAGGGGAGGAGGAGGGAGGAGGAGGGGGAG GAGGGGGAGGAGGGGGAGGAGGAGGGGAGAGGGGAGGGAGGGGGGGAGGA GGGGGGGAGGAGGGAGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGAGG GGAGGGGGTGGAGGAGGGGGAGGAGGGGGTGGAGGGGGAGGGGGAGGGGA GGAGGGGGAGGAGGAGGGGGAGGGAGGAGGAGGGGGGAGGAGGAGGGGGA GGAGGAGGGGGGGGAGGAGGAGGGGGAGGAGGAGGGGGGGAGGAGGAGGG GGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGG AGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGA GGAGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGGG GA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0012 a0001c0001t0012g0012	1	183	0.0055	601	c.125 others(622): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCTCC TCCTCCCTCCCCCTCCTCCTCCCCCTCCTCCCCTCCCCCTCCCCCTCCAC CCCCTCCTCCCCCTCCTCCACCCCCTCCCCTCCCTCCTCCCCCTCCTCCT CCCCCTCCTCCCCTCCCTCCTCCCCCCCTCCTCCCCCCCTCCCTCCCCTC TCCCCTCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCTCCTC CTCCCCTCTCCCTCCTCCCCTCTCCTCCTCCTCCTCCCCCTCCTCCTCCC CTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCT CCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCAC CTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ARHGAP19_chr10_97217179_97297637	97251448	G G	GGAAGGGG others(594): Show GGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGAAGGGGAGGGGAAG GCAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAGGGGAAGGG GAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAGG GAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGG GGAGGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGAAGGGAAGGTGG AAGGAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAA AGGGAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAGGA AGGGGGAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGAAGGGAAGAGAA AGGAAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGGGAAAAGGAG AAGAAGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGAAGGAAGGGGGA GGGGAAAGGAAGGAAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGAAAGGGAAGGGGAAG AT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	224	0.0045	601	c.927 others(618): Show c.927+4869_927+4870insATCTTCCCCTTCCCTTTCCCTTCCCCTC CCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTC CCCTCCCCCTTCCTTCCTTTCCCCTCCCCCTTCCTTCCTTTCCCCTTCCC TTCCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCCTTCCCCTTCCCCTCC CCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCTTCCCCTTCCCTTCCC TTCCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCCCT TTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCC TTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCCTTT CCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCTT CTCCTTCCTTTTCCCTTCCCCTTCCCTTTCCCCTTCCCTTCCCCTTCCCT TCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCT CCCCCTTCCTTCCTTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTCTTC TCCTTCCTTTTCCCTTCCCCTTC	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144687691	C C	CGTGACCA others(594): Show CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGACCAC ACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGC ACTTCCCACCCCTGTGACCACACACTGGCAGTGAGCACTTCCCACCCCGT GACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCG GTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACAT TTACAGTGAGCACTTCCCACCCCTGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGAC CACACACTGGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0007 a0001c0014t0007	a0001c0014t0007g0239 a0001c0014t0007g0239	1	241	0.0041	601	c.-20 others(612): Show c.-2088_-2087insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACTGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACAGGGGT GGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCG CTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCCAGTGTGTG GTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAA ATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1846		chr8	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(594): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGAATATATATATCATATATGATATATATGAATA TATATATCATATATGATATATATGAATATATATATCATATATGATATATA TGAATATATATATCATATATGATATATATGAATATATATATCATATATGA TATATATGAATATATATCATATATGATATATATATGAATATATATCATAT ATGATATATATGATATATATATCATATATTATATATGAATATATATATCA TATATGATATATATGAATATATATATCATATATGATATATATGAATATAT ATATCATATATGATATATATGAATATATATATCATATATGATATATATAT TCATATATATCATATATGATATATATGAATATATATATCATATATGATAT ATATATTCATATATATCATATATGATATATATGAATATATATATCATATA TG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0128 a0002c0001t0002g0128	1	268	0.0037	601	c.924 others(618): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATGAATATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATTCATATATATCATATATGAT ATATATATTCATATATATCATATATGATATATATATTCATATATAATATA TGATATATATATCATATATATCATATATGATATATATTCATATATATATC ATATATGATATATATTCATATATATCATATATGATATATATATTCATATA TATCATATATGATATATATATTCATATATATCATATATGATATATATATT CATATATATCATATATGATATATATATTCATATATATCATATATGATATA TATATTCATATATATCATATATGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(594): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATATTTATATATATATATAATTATATATATATAAAATT ATATATATAATTATATATATATTATATATAATTATATATATAATTTTATA TATATAATTATATATATTTATATATATATATATAATTATATATATATATA AAATTATATATATAATTATATATATATTATATATAATTATATATATATAT TATATATAATTTTATATATATAATTATATATATAATTTTATATATATAAT TTTATATATATAATTTTATATATATAATTTTATATATATAATTATATATA TAATTTTATATATATATAATTATATATATAATTTTATATATATATAATTA TATATATAATTTTATATATATATAATTATATATATAATTATATATATATA TAATTATATATATAATTTTATATATATATAATTATATATATAATTATATA TATAATTTTATATATATAATTATATATATAATTTTATATATATATAATTA TATATATAATTTTATATATATAATTATATATATAATTTTATATATATATA AT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	94	0.0106	601	c.907 others(616): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATATAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATATAATTATATATATAATTTTATATATATATAATTATATATAT ATATAAATATATATATAATTATATATATATAAAATTATATATATAATTAT ATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88888547	G G	GGGAGGGG others(594): Show GGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGAGGAG GGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGGTGGGGT GGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGGGGGAAG GGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTGTGTGGG GCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGG AGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTAC TCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGG GTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGGA AGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGA GTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGG GTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTGG GTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGGTGGGG GA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	276	0.0036	601	c.712 others(618): Show c.712-2406_712-2405insTCCCCCACCCCACCCCCTCCCACCCCTC CCCACCCCTCCCACCCCACCCCACCCACACCCCTCCCCCACCCCACCCAC ACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCCCCA CCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCCACC CCACCCCTCCCCCACCCACACCCTTCCCCCACCCCACCCCTCCCTCCCCC ACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCA CCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTC CCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCC CACTCCACCCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCA ACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCC CCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCC ACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGC CCCCACTCCACCCCACCCCCTCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CDH4_chr20_61247261_61945617	61353603	A A	ACTGCCTT others(594): Show ACTGCCTTCCTCCCCCTCCTCCCCATCTTTCTCCCCTTCCCCCTCCCCCC TCCTCTGTCTTCCCCCTACTCCTCCCCTTCTCCCTCCCCCTTCTCCCCCT CTTCCTCCCCTTCCCCCGTCCTTTCCCCCCTCCTCCTCCTCCCCTTCCCC CTCCCATTACCCCTTCTCCTCCTCCTCTTCCTCCCCCTCCTCCTCTTCTT CCTCCTCTTCCCTCTCCTCCTCCTCCCCCTCCTCCCCCTCCCCCTGTTCC CCTTTTCCTCTGGAAGGCGATGAGAATACAGTATGATGATTCACCCTTCC CCTCCCCCTCCCCCTCCCTCCTCCTCCCCCTACTCTTCCTCCCCCCTCCT CCTCCCTCTCCCCTCCCTCTCCTCCCCTCCCTCCTCCTCCTCCCCCTCCC CTCCTCCTCCTCTTCCCCCTCCTCCTCTTCCCCCTCCTCCTCTTCTTCCT CCCTTCCCCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCCCTGTTCCCCTT TTCCTCTGGAAGGTGATGAGAGTACAGTATGATGATTCACCCTCCCCCTC CCCCCTCCTCCCTCCCCTCCCCTCCTCCTCCTCCTCTCCCCCTCCACCTC TT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0099 a0002c0005t0007g0099	1	4	0.2500	601	c.169 others(620): Show c.169+98668_169+98669insGCCTTCCTCCCCCTCCTCCCCATCTT TCTCCCCTTCCCCCTCCCCCCTCCTCTGTCTTCCCCCTACTCCTCCCCTT CTCCCTCCCCCTTCTCCCCCTCTTCCTCCCCTTCCCCCGTCCTTTCCCCC CTCCTCCTCCTCCCCTTCCCCCTCCCATTACCCCTTCTCCTCCTCCTCTT CCTCCCCCTCCTCCTCTTCTTCCTCCTCTTCCCTCTCCTCCTCCTCCCCC TCCTCCCCCTCCCCCTGTTCCCCTTTTCCTCTGGAAGGCGATGAGAATAC AGTATGATGATTCACCCTTCCCCTCCCCCTCCCCCTCCCTCCTCCTCCCC CTACTCTTCCTCCCCCCTCCTCCTCCCTCTCCCCTCCCTCTCCTCCCCTC CCTCCTCCTCCTCCCCCTCCCCTCCTCCTCCTCTTCCCCCTCCTCCTCTT CCCCCTCCTCCTCTTCTTCCTCCCTTCCCCCTCCTCCTCCTCCCTCTCCT CCTCCTCCCCCTGTTCCCCTTTTCCTCTGGAAGGTGATGAGAGTACAGTA TGATGATTCACCCTCCCCCTCCCCCCTCCTCCCTCCCCTCCCCTCCTCCT CCTCCTCTCCCCCTCCACCTCTTCT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL4A1_chr13_110143963_110312157	110255704	G G	GGGCAGGC others(594): Show GGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGG GCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAA GGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0059 a0001c0006t0001g0059	1	260	0.0038	601	c.85- others(618): Show c.85-12971_85-12970insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTC CCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCT GCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTT CCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTGCCTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232064	A A	ACTGCTGC others(594): Show ACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	341	0.0029	601	c.513 others(618): Show c.513-1110_513-1109insCTGCCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG CTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGCTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(594): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGAGGGAGGGGAGGGAG GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGAGGGGAGGGGT GAGGGGGAGGGGGAGTGGAAGGGGGAGGGGAGGGGAGGGGAGTGGGGAGG GGAGGGAGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGAGGAGGGAGGGGAGAGGGGGAGGGGGAGGGGAGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGAGGGGAGGGGAGGAGGGGGAGGGGGAGGGAGAGGGGAGGA GGTGGGGGAGGGAGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAG AGGGGGAGGGGGAGGGAGGGAGGAGGGAGGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGAAGAGGGGAGGGGGAGGAGGGAGGGGAAGGGGAGGGGGAGG GGGAGGGGAGGGGGAAGGGGAGGAGGGGGAGGGGAAGGGGAGGGGGAGGG GGAGGGGAAGGGGAGGGGGAGGGGGGAGGGGAAGGGGGAGACAGAGGGGA GG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0066 a0003c0003t0002g0066	1	97	0.0103	601	c.923 others(620): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCC CCTCCTCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCT CCTCCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTC CCTCCTCCCTCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCTCCCTCCCCCACCTCCTCCCCTCTCCCTCCCCCTCCC CCTCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCTCCC CCTCCCCCTCTCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCTCCCTCCCTCCCCTCCCCACTCCCCTCCCCTCCCC TCCCCCTTCCACTCCCCCTCCCCCTCACCCCTCCCCTCCCATCCCTCCAT TCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCCCTCCCTCCTTCATTC CTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(594): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	279	0.0036	601	c.-42 others(612): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DIP2C_chr10_269201_694668	556200	A A	ACCCCTCC others(594): Show ACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACA GCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCCAGGACA GCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCAC CCCCTCCCACAGCCGGATCCGAGGACGGCACCCACCCACCCCCTCCCACA GCCGGATCCCAGGACAGCACCCACCCACCCCCCCTCCCACAGCCGGATCC GAGGACAGCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACC CACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCCCCTCC CACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCCAG GACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCAC CCACCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGC CGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGA CGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCC AC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0046	1	77	0.0130	601	c.86- others(618): Show c.86-69671_86-69670insGTGGGTGGGTGCCGTCCTGGGATCCGGC TGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCTGGCTGTGGGAGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCT CGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTG TGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGG GTGCTGTCCTCGGATCCGGCTGTGGGAGGGGGGGTGGGTGGGTGCTGTCC TGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCT GTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGGGGTGG GTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGT CCTCGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCTGTCCTGGGATCCG GCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGG GTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTC CTGGGATCCGGCTGTGGGAGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	556343	C C	CCACCCAC others(594): Show CCACCCACCCCCTCCCACAGCCGGATCCGAGGACGGCACCCACCCACCCC CTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCCCCTCCCACAG CCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCCAGGACAG CACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACC CCCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCG GATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACA GCACCCACCCACCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCT CCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCAGA TCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGC ACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACC CCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCC GGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGAC GG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0083 a0001c0004t0001g0083	1	88	0.0114	601	c.86- others(618): Show c.86-69814_86-69813insCCGTCCTGGGATCCGGCTGTGGGAGGGG TGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCC GTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCC GGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAG GGGTGGGTGGGTGCCGTCCTGGGATCTGGCTGTGGGAGGGGTGGGTGGGT GCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCG GCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGG GTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTC CTCGGATCCGGCTGTGGGAGGGGGGGTGGGTGGGTGCTGTCCTGGGATCC GGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGG GGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGGGGTGGGTGGGTGC TGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTCGGAT CCGGCTGTGGGAGGGGGTGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DPEP1_chr16_89608642_89643433	89634802	C C	CCCTTTCT others(594): Show CCCTTTCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTACCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	236	0.0042	601	c.105 others(618): Show c.105-1104_105-1103insTTTCTTCCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTACCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP4_chr10_983434_1024932	1015564	G G	GCTGGGGT others(594): Show GCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGC TGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGG CTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCT GAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGC TGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTG AGCCTGGGAGTGGACCTGGGGTCCTGAGCTCTGAGCCTGGGAGCAGGGCT GGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGA GCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTG GGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAG CCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGG GGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAGC CTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCACTGAGCCTGGGAGTGG AC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0153 a0001c0002t0017g0153	1	342	0.0029	601	c.160 others(618): Show c.1609-175_1609-174insTCTGAGCCTGGGAGCGGGGCTGGGGTCC TGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGG AGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCT GAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGA GCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTG AGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCTCTGAGCCTGGGAG CAGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGA GCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGC GGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAG CGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCG GGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGC GCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCACTGAGCCTG GGAGTGGACCTGGGGTCCTGAGC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP6_chrX_299759_323796	322067	G G	GAAAAATT others(594): Show GAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGG GACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATG GGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAGAAAAGAA AAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGAC GCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGC AATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAAAAAAGAA AAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTC GGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCA TGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAGAAAAG AAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGC TCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAG CATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG06807.hp1 HG02615.hp2 HG06807.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0007c0011 a0001c0003 a0007c0011	a0001c0003t0003 a0007c0011t0003 a0001c0003t0003 a0007c0011t0003	a0001c0003t0003g0141 a0007c0011t0003g0140 a0001c0003t0003g0141 a0007c0011t0003g0140	2	148	0.0135	601	c.-32 others(612): Show c.-3281_-3280insTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGT CTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCT CCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGC CCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGTAGATAATGGG GTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATC CTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCAC GCCCGGCTAATTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGTAGATA ATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAG CAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACC ACCACGCCCGGCTAATTTTTCTTTTCTTTTTTTTTTTTTTGTAGATAATG GGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAA TCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACC ACGCCCGGCTAATTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3272		chrX	TogoVar
IDI2_chr10_1013910_1030859	1015564	G G	GCTGGGGT others(594): Show GCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGC TGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGG CTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCT GAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGC TGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTG AGCCTGGGAGTGGACCTGGGGTCCTGAGCTCTGAGCCTGGGAGCAGGGCT GGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGA GCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTG GGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAG CCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGG GGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAGC CTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCACTGAGCCTGGGAGTGG AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	397	0.0025	601	c.39 others(612): Show c.3952_*3953insGTCCACTCCCAGGCTCAGTGCTCAGCGCTCAGGA CCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGGTCCACTCCCA GGCTCAGCGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGAC CCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGGTCCACTCCCAG GCTCAGCGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACC CCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCCCAGG CTCAGAGCTCAGGACCCCAGCCCTGCTCCCAGGCTCAGAGCTCAGGACCC CAGGTCCACTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCCCAGGC TCAGCGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCC AGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCCCAGGCT CAGCGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCA GCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCCCAGGCTC AGAGCTCAGGACCCCAG	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding		3345		chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33323151	T T	TATATACG others(594): Show TATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATATGGAATATA TATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGG AATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAATAT ATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATG GAATATATATATGGAATATACATATGGAATATATATGTATGGAATATACA TATGGAATATATATGTATGGAATATACATATGGAATATATATGTTTGGAA TATATATATATGGAATATATATGTATGGAATATATATATATGGAATATAT GTATGGAATATATATATGGAATATATGTATGGAATATATATATATGGAAT ATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	302	0.0033	601	c.-19 others(612): Show c.-1905_-1904insATATACGTATGGAATATATATATGGAATATATAC GTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAAT ATATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATA TATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAATA TATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTAT GGAATATATATATGGAATATATATGTATGGAATATATATGTATGGAATAT ATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATG GAATATATATGTATGGAATATATATATGGAATATACATATGGAATATATA TGTATGGAATATACATATGGAATATATATGTATGGAATATACATATGGAA TATATATGTTTGGAATATATATATATGGAATATATATGTATGGAATATAT ATATATGGAATATATGTATGGAATATATATATGGAATATATGTATGGAAT ATATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTA TGGAATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1818		chr21	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(594): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0109 a0002c0003t0001g0109	1	233	0.0043	601	c.127 others(620): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(594): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCG GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGGG GAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGC GGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGG GGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCG GG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0045	1	100	0.0100	601	c.623 others(618): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGG GGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCT CTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGG CGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGG GGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGG CGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173125	C C	CCTCTCTC others(594): Show CCTCTCTCTCCCCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCTCCCC TCCCCCCTCTCTCCCCCTCCCCTCCCCCCTCCCCCCTCTGTCTCCCCCTC CCCTCCCCCCTCCCCCCTCTGTCTCCCCCTCCCCTCCCCCCCCTCCCCCT CCCCTCCCCCTCTCCCCCCTCCCCTCCCCCCCTCTCTCCCCCTCCCCTCC CCCCTCTCTCCCCGTCCCCTCCCCCCTCTCTCCCCCTCCCCCTCCCCCCT CTCTCCCCTCCCCCCTCTCTCCCCTCCCCCCTCTCTCCCCTCCCCCTCCT TCCCTCTCCCTCTCCCCCTCCCCTTCCTTCCCTCTCCCCCTCCCCCTCCT TCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCT CTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCT CTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTCCCTCT CTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTCCCTCT CT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0083 a0001c0006t0003g0083	1	153	0.0065	601	c.11 others(622): Show c.1103+4101_*1103+4102insCCCCCCTCCCCCCTCTCCCCTCCC CTCCCCCCTCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCCTCTCCCCT CCCCCTCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCTCCCC CCTCTGTCTCCCCCTCCCCTCCCCCCTCCCCCCTCTGTCTCCCCCTCCCC TCCCCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCTCCCCCCCTC TCTCCCCCTCCCCTCCCCCCTCTCTCCCCGTCCCCTCCCCCCTCTCTCCC CCTCCCCCTCCCCCCTCTCTCCCCTCCCCCCTCTCTCCCCTCCCCCCTCT CTCCCCTCCCCCTCCTTCCCTCTCCCTCTCCCCCTCCCCTTCCTTCCCTC TCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCC CCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCC CCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCC CCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCC CCCCCTCCTTCCCTCTCTCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
LBP_chr20_38341482_38382013	38378975	C C	CGCCTGGC others(594): Show CGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCGGGG AGGTGAGGGGCGCCTTTGCCTGGCCGCCCCTACTGGGAAGTGAGGTGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCCGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCGGGGAG GTGAGGGGCGCCTTTGCCTGGCCGCCCCTACTGGGAAGTGAGGTGCCCCT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03486.hp2 NA19240.hp1 HG02809.hp2 HG03486.hp2 NA19240.hp1	a0001 a0010 a0001 a0010	a0001c0014 a0010c0017 a0001c0014 a0010c0017	a0001c0014t0003 a0010c0017t0003 a0001c0014t0003 a0010c0017t0003	a0001c0014t0003g0084 a0010c0017t0003g0018 a0001c0014t0003g0084 a0010c0017t0003g0018	3	392	0.0077	601	c.23 others(612): Show c.2306_*2307insGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCA GCCGCCCCGTCGGGGAGGTGAGGGGCGCCTTTGCCTGGCCGCCCCTACTG GGAAGTGAGGTGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGC CGCCCCGTCGGGGAGGTGAGGGGCGCCTTTGCCTGGCCGCCCCTACTGGG AAGTGAGGTGCCCCTCT	LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding		1963		chr20	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTAT others(594): Show ATATTTATATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATATTTATATAT ATTTATATATATTTATATATATTTATATATATATTTATATATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATATATTTTT ATATATATTTATATATATTTTATATATAGTTATATATATTTATATATAGT TATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATAGT TATATATATAGTTATATATAGTTATATATATAGTTATATATATATATTTT TATATATATATTTATATATATATTTTTATATATATATTTATATATATTTA TATATATATTTATATATATAAATATATATATATTTATATATATATTTATA TATATATATATATATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATATTTATATATTTATATATGTATTTATATATATT TATATATGTATTTATATATATTTATATATAATTATATGTATTTATATATA TT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02559.hp1 HG01891.hp2 HG02145.hp1 HG02559.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0005 a0001c0001t0001 a0003c0003t0005	a0001c0001t0001g0247 a0003c0003t0005g0255 a0003c0003t0005g0256 a0001c0001t0001g0247 a0003c0003t0005g0255 a0003c0003t0005g0256	3	82	0.0366	601	c.125 others(618): Show c.125+9673_125+9674insTTATATATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATATATTTTTATATATATTTATATATATTTTATATATAGTTA TATATATTTATATATAGTTATATATATTTATGTATAGTTATATATAGTTA TGTATAGTTATATATAGTTATATATATAGTTATATATAGTTATATATATA GTTATATATATATATTTTTATATATATATTTATATATATATTTTTATATA TATATTTATATATATTTATATATATATTTATATATATAAATATATATATA TTTATATATATATTTATATATATATATATATATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATATTTATATATTTATA TATGTATTTATATATATTTATATATGTATTTATATATATTTATATATAAT TATATGTATTTATATATATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	903594	T T	TGGTGACC others(594): Show TGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGGGTG ACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGACCT CTGCATCGCCCACAGGACGCCTATCTCTGCTGTGTGGTGGTGACCTTTGC ACTGCCCGTGGGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACT GCCTGTGGGGACGCCCGTCTCTGCTGTGTGGTGGTGACCTCTGCATCGCC CACAGGACGCCTGTCTCTGCTGCGTGGGGTGACCTCTGCATCGCCCACAG GACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCCACAGGACG CCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCCACAGGACGCCTG TCTCTGCTGTGTGGTGGTGACCTTTGCACTGCCCGTGGGGACGCCTGTCT CTGCTGCGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCTGTCTCTG CTGTGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCCGTCTCTGCTG CGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTG GG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	171	0.0058	601	c.663 others(618): Show c.663+7336_663+7337insCCCACGCAGCAGAGACAGGCGTCCTGTG GGCGATGCAGAGGTCACCACCACGCAGCAGAGACGGGCGTCCCCACAGGC AGTGCAGAGGTCACCACCACACAGCAGAGACAGGCGTCCCCACAGGCAGT GCAGAGGTCACCACCACGCAGCAGAGACAGGCGTCCCCACGGGCAGTGCA AAGGTCACCACCACACAGCAGAGACAGGCGTCCTGTGGGCAGTGCAGAGG TCACCACCACGCAGCAGAGACAGGCGTCCTGTGGGCAGTGCAGAGGTCAC CACCACGCAGCAGAGACAGGCGTCCTGTGGGCGATGCAGAGGTCACCCCA CGCAGCAGAGACAGGCGTCCTGTGGGCGATGCAGAGGTCACCACCACACA GCAGAGACGGGCGTCCCCACAGGCAGTGCAGAGGTCACCACCACGCAGCA GAGACAGGCGTCCCCACGGGCAGTGCAAAGGTCACCACCACACAGCAGAG ATAGGCGTCCTGTGGGCGATGCAGAGGTCACCACCACGCAGCAGAGACAG GCGTCCTGTGGGCGATGCAGAGGTCACCCCACGCAGCAGAGACAGGCGTC CTGTGGGCGATGCAGAGGTCACC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	903594	T T	TGGTGACC others(594): Show TGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGGGTG ACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGACCT CTGCATCGCCCACAGGACGCCTATCTCTGCTGTGTGGTGGTGACCTTTGC ACTGCCCGTGGGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACT GCCTGTGGGGACGCCCGTCTCTGCTGTGTGGTGGTGACCTCTGCATCGCC CACAGGACGCCTGTCTCTGCTGCGTGGGGTGACCTCTGCATCGCCCACAG GACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCCACAGGACG CCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCCACAGGACGCCTG TCTCTGCTGTGTGGTGGTGACCTTTGCACTGCCCGTGGGGACGCCTGTCT CTGCTGCGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCTGTCTCTG CTGTGTGGTGGTGACCTCTGCACTGCCTGTGGGGGACGCCCGTCTCTGCT GCGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGT GG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	171	0.0058	601	c.663 others(618): Show c.663+7336_663+7337insCCACGCAGCAGAGACAGGCGTCCTGTGG GCGATGCAGAGGTCACCACCACGCAGCAGAGACGGGCGTCCCCCACAGGC AGTGCAGAGGTCACCACCACACAGCAGAGACAGGCGTCCCCACAGGCAGT GCAGAGGTCACCACCACGCAGCAGAGACAGGCGTCCCCACGGGCAGTGCA AAGGTCACCACCACACAGCAGAGACAGGCGTCCTGTGGGCAGTGCAGAGG TCACCACCACGCAGCAGAGACAGGCGTCCTGTGGGCAGTGCAGAGGTCAC CACCACGCAGCAGAGACAGGCGTCCTGTGGGCGATGCAGAGGTCACCCCA CGCAGCAGAGACAGGCGTCCTGTGGGCGATGCAGAGGTCACCACCACACA GCAGAGACGGGCGTCCCCACAGGCAGTGCAGAGGTCACCACCACGCAGCA GAGACAGGCGTCCCCACGGGCAGTGCAAAGGTCACCACCACACAGCAGAG ATAGGCGTCCTGTGGGCGATGCAGAGGTCACCACCACGCAGCAGAGACAG GCGTCCTGTGGGCGATGCAGAGGTCACCCCACGCAGCAGAGACAGGCGTC CTGTGGGCGATGCAGAGGTCACC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	903788	C C	CTGCACTG others(594): Show CTGCACTGCCTGTGGGGACGCCCGTCTCTGCTGTGTGGTGGTGACCTCTG CATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGGGTGACCTCTGCATCG CCCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCCA CAGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCCACAGG ACGCCTGTCTCTGCTGTGTGGTGGTGACCTTTGCACTGCCCGTGGGGACG CCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCT GTCTCTGCTGTGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCCGTC TCTGCTGCGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTG CTGCGTGGGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCG TGGTGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGT GGTGACCTCTGCATCGCCCACAGGACGCCTATCTCTGCTGTGTGGTGGTG ACCTTTGCACTGCCCGTGGGGACGCCTGTCTCTGCTGCGTGGTGGTGACC TG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01517.hp1 others(5): Show HG00099.hp1 HG00280.hp2 HG01517.hp1 NA18944.hp1 NA18950.hp2 NA18964.hp2 NA18970.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0019 a0001c0012t0001 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0012t0001 a0001c0012t0018	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 others(5): Show a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0019g0255 a0001c0012t0001g0084 a0001c0012t0018g0035	8	289	0.0277	601	c.663 others(618): Show c.663+7142_663+7143insCAGGTCACCACCACGCAGCAGAGACAGG CGTCCCCACGGGCAGTGCAAAGGTCACCACCACACAGCAGAGATAGGCGT CCTGTGGGCGATGCAGAGGTCACCACCACGCAGCAGAGACAGGCGTCCTG TGGGCGATGCAGAGGTCACCACCACGCAGCAGAGACAGGCGTCCTGTGGG CGATGCAGAGGTCACCCCACGCAGCAGAGACAGGCGTCCTGTGGGCGATG CAGAGGTCACCACCACGCAGCAGAGACGGGCGTCCCCACAGGCAGTGCAG AGGTCACCACCACACAGCAGAGACAGGCGTCCCCACAGGCAGTGCAGAGG TCACCACCACGCAGCAGAGACAGGCGTCCCCACGGGCAGTGCAAAGGTCA CCACCACACAGCAGAGACAGGCGTCCTGTGGGCAGTGCAGAGGTCACCAC CACGCAGCAGAGACAGGCGTCCTGTGGGCAGTGCAGAGGTCACCACCACG CAGCAGAGACAGGCGTCCTGTGGGCGATGCAGAGGTCACCCCACGCAGCA GAGACAGGCGTCCTGTGGGCGATGCAGAGGTCACCACCACACAGCAGAGA CGGGCGTCCCCACAGGCAGTGCA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	903958	T T	CGTGGTGG others(594): Show CGTGGTGGTGACCTCTGCACTGCCCACAGGACGCCTGTCTCTGCTGTGTG GTGGTGACCTTTGCACTGCCCGTGGGGACGCCTGTCTCTGCTGCGTGGTG GTGACCTCTGCACTGCCTGTGGGGACGCCTGTCTCTGCTGTGTGGTGGTG ACCTCTGCACTGCCTGTGGGGACGCCCGTCTCTGCTGCGTGGTGGTGACC TCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGGGTGACCTCTGC ATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCATCG CCCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCATCGCCCA CAGGACGCCTATCTCTGCTGTGTGGTGGTGACCTTTGCACTGCCCGTGGG GACGCCTGTCTCTGCTGCGTGGTGGTGACCTGTGCACTGCCTGTGGGGAC GCCCGTCTCTGCTGTGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCT GTCTCTGCTGCGTGGGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTC TGCTGCGTGGTGGTGACCTCTGCACTGCCCACAGGACGCCTGTCTCTGCT GT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp1 HG01361.hp1 others(4): Show HG00597.hp2 HG01074.hp1 HG01361.hp1 NA18952.hp2 NA18995.hp1 NA19012.hp1 NA19068.hp2	a0001 a0012 a0014 a0001 a0012 a0014	a0001c0001 a0001c0003 a0012c0037 others(1): Show a0001c0001 a0001c0003 a0012c0037 a0014c0062	a0001c0001t0001 a0001c0003t0001 a0012c0037t0005 others(1): Show a0001c0001t0001 a0001c0003t0001 a0012c0037t0005 a0014c0062t0008	a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0260 others(4): Show a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0003t0001g0248 a0012c0037t0005g0278 a0014c0062t0008g0214	7	150	0.0467	601	c.663 others(618): Show c.663+6973_663+6974insCAGCAGAGACAGGCGTCCTGTGGGCAGT GCAGAGGTCACCACCACGCAGCAGAGACAGGCGTCCTGTGGGCGATGCAG AGGTCACCCCACGCAGCAGAGACAGGCGTCCTGTGGGCGATGCAGAGGTC ACCACCACACAGCAGAGACGGGCGTCCCCACAGGCAGTGCACAGGTCACC ACCACGCAGCAGAGACAGGCGTCCCCACGGGCAGTGCAAAGGTCACCACC ACACAGCAGAGATAGGCGTCCTGTGGGCGATGCAGAGGTCACCACCACGC AGCAGAGACAGGCGTCCTGTGGGCGATGCAGAGGTCACCACCACGCAGCA GAGACAGGCGTCCTGTGGGCGATGCAGAGGTCACCCCACGCAGCAGAGAC AGGCGTCCTGTGGGCGATGCAGAGGTCACCACCACGCAGCAGAGACGGGC GTCCCCACAGGCAGTGCAGAGGTCACCACCACACAGCAGAGACAGGCGTC CCCACAGGCAGTGCAGAGGTCACCACCACGCAGCAGAGACAGGCGTCCCC ACGGGCAGTGCAAAGGTCACCACCACACAGCAGAGACAGGCGTCCTGTGG GCAGTGCAGAGGTCACCACCACG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LUC7L_chr16_183990_234449	186408	G G	GGAGGAAC others(594): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGAGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGG AACAGCGACACGGGAGGGAGGAACAGCGACACGGAGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGAGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGA ACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	294	0.0034	601	c.27 others(612): Show c.2789_*2790insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCC CGTGTCGCTGTTCCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC TCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTG TCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCT CCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2581		chr16	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(594): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATGTTTTGTAAATATATATAA ATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAATAT ATAAATATATATTTTGTAAATATATATATATTTTGTAAATATATATATAT TTTGTAAATATATATATATTTTGTAAATATATATTGTAAATATATATAAA TATATATTTTGTGAATTATATATATATTGTAAATTATATATATATTTTGT AAATATATATAGTAAATATATATATTTTGTAAATATGTATATATATTTTG TAAATATATATATTTTGTAAATATGTATATATATTTTGTAAATATATACA TTTTGTAAATATATAAATATATACATTTTGTAAATATATAAAAATATATA CATTTTGTAAATATATAAAAATATATGTTGTAAATATATAAAAATATATA TATTTTGTAAATATATAAATATATATATTTTGTAAATATATATATATTTT GTAAATATATATAAATATATACATATTTTGTAAATATATAAATATATACA TA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01433.hp2 HG01361.hp2 HG01433.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0293 a0008c0009t0002g0294 a0008c0009t0002g0293 a0008c0009t0002g0294	2	41	0.0488	601	c.197 others(620): Show c.1974+1124_1974+1125insTATGTATATATTTATATATTTACAAA ATATGTATATATTTATATATATTTACAAAATATATATATATTTACAAAAT ATATATATTTATATATTTACAAAATATATATATTTTTATATATTTACAAC ATATATTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAA ATGTATATATTTATATATTTACAAAATGTATATATTTACAAAATATATAT ACATATTTACAAAATATATATATTTACAAAATATATATACATATTTACAA AATATATATATTTACTATATATATTTACAAAATATATATATAATTTACAA TATATATATAATTCACAAAATATATATTTATATATATTTACAATATATAT TTACAAAATATATATATATTTACAAAATATATATATATTTACAAAATATA TATATATTTACAAAATATATATTTATATATTTACAAAACATATATATATT TATATATATTTACAAAACATATATATTTATATATATTTACAAAACATATA TTTATATATATTTACAAAACATATATATTTATATATATTTACAAAACATA TATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159874329	T T	TATATATA others(594): Show TATATATAAATATATATATGTTTTGTAAATATATATAAATATATATATGT TTTGTAAATATATATAAATATATATGTTTTGTAAATATATATAAATATAT GTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATATAAATAT ATATATGTTTTGTAAATATATAAATATATATTTTGTAAATATATATATAT TTTGTAAATATATATATATTTTGTAAATATATATATATTTTGTAAATATA TATTGTAAATATATATAAATATATATTTTGTGAATTATATATATATTGTA AATTATATATATATTTTGTAAATATATATAGTAAATATATATATTTTGTA AATATGTATATATATTTTGTAAATATATATATTTTGTAAATATGTATATA TATTTTGTAAATATATACATTTTGTAAATATATAAATATATACATTTTGT AAATATATAAAAATATATACATTTTGTAAATATATAAAAATATATGTTGT AAATATATAAAAATATATATATTTTGTAAATATATAAATATATATATTTT GTAAATATATATATATTTTGTAAATATATATAAATATATACATATTTTGT AA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19240.hp1 NA21309.hp1 NA18975.hp2 NA19240.hp1 NA21309.hp1	a0001 a0017 a0001 a0017	a0001c0015 a0017c0021 a0001c0015 a0017c0021	a0001c0015t0002 a0017c0021t0007 a0001c0015t0002 a0017c0021t0007	a0001c0015t0002g0301 a0017c0021t0007g0305 a0017c0021t0007g0306 a0001c0015t0002g0301 a0017c0021t0007g0305 a0017c0021t0007g0306	3	312	0.0096	601	c.197 others(620): Show c.1974+1114_1974+1115insTTACAAAATATGTATATATTTATATA TATTTACAAAATATATATATATTTACAAAATATATATATTTATATATTTA CAAAATATATATATTTTTATATATTTACAACATATATTTTTATATATTTA CAAAATGTATATATTTTTATATATTTACAAAATGTATATATTTATATATT TACAAAATGTATATATTTACAAAATATATATACATATTTACAAAATATAT ATATTTACAAAATATATATACATATTTACAAAATATATATATTTACTATA TATATTTACAAAATATATATATAATTTACAATATATATATAATTCACAAA ATATATATTTATATATATTTACAATATATATTTACAAAATATATATATAT TTACAAAATATATATATATTTACAAAATATATATATATTTACAAAATATA TATTTATATATTTACAAAACATATATATATTTATATATATTTACAAAACA TATATATTTATATATATTTACAAAACATATATTTATATATATTTACAAAA CATATATATTTATATATATTTACAAAACATATATATATTTATATATATTT ACAAAACATATATATATTTATATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1930243	C C	CCGCTGCC others(594): Show CCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCC CGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCT CGCCCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACGTC CCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCA CGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGC TGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCCTCGCCCCGT CCCCACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCCTCGCC CCGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCT CGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGT CCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCC ACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCATCCCCCA CTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACAACCCACCACCACGTC CA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	246	0.0041	601	c.180 others(620): Show c.1807+6443_1807+6444insTGGACGTGGTGGTGGGTTGTGGCAGT GGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTG GCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGA CGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGA GGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGCGGGGACGGG GCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGTGGA CGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGAGGGGGACGTGGCAGT GGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTG GCAGTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGG ACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGG TGGGTTGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGG GGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGG GATGGGGCGAGGGGACGTGGCAGCG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCCATCC others(594): Show CCCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCT GTCCACCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCAT CCACCCATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCT GCCCATCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCATCC ATCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATCCAT CCATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCC ACCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCAT CCACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCC ATCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGT CCACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCC AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	191	0.0052	601	c.55 others(612): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGTGC ATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGCAGGT GAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGATGA ATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAGGGT TGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGAACAGGTGGATGGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
NEU4_chr2_241804193_241822413	241806154	A A	ACCCTCCC others(594): Show ACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGATGTCTGCAGGCCACCCTCCCTCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCC TCCCTCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCA GGGACCTCCGCAGGCCACCCTCCCTCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	235	0.0043	601	c.-31 others(612): Show c.-3124_-3123insCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTC AACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAT GTCTGCAGGCCACCCTCCCTCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3038		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(594): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACTGTGTATATATACACAGTATGTAT ACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTA TGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGTAT ACTGTATATATACACAATACAGTATGTATACTGTATATATACACACAGTA TGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAG TA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0300 a0001c0005t0007g0300	1	118	0.0085	601	c.-75 others(620): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATATAT ACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGT GTATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATAC TGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGT ATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGTATGCAGTATACATACTGTGTATATATACACA GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACATACAGTATACATACATACAGTATACATACATACAGTATACATGCT GTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(594): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	261	0.0038	601	c.91+ others(614): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGCTGAGGGAGTC GGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(594): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAG TCCGTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCC CCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCC TCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCC ACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGC CCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCA GTCCCCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCC TCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGG CT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01074.hp2 others(25): Show HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp2 HG01243.hp2 HG01358.hp1 HG01496.hp2 HG02109.hp2 HG02273.hp2 HG02572.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03704.hp2 HG03942.hp2 HG06807.hp1 NA18906.hp2 NA19240.hp1 NA20905.hp1 NA21309.hp1	a0001 a0009 a0023 a0001 a0009 a0023	a0001c0001 a0001c0003 a0001c0005 others(10): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0016 a0001c0018 a0001c0019 a0001c0026 a0001c0035 a0001c0044 a0001c0058 a0009c0022 a0023c0046	a0001c0001t0012 a0001c0001t0019 a0001c0003t0001 others(16): Show a0001c0001t0012 a0001c0001t0019 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0005t0008 a0001c0008t0009 a0001c0016t0004 a0001c0016t0012 a0001c0016t0020 a0001c0018t0008 a0001c0019t0008 a0001c0026t0015 a0001c0035t0001 a0001c0044t0008 a0001c0058t0021 a0009c0022t0008 a0023c0046t0018	a0001c0001t0012g0001 a0001c0001t0019g0008 a0001c0003t0001g0199 others(24): Show a0001c0001t0012g0001 a0001c0001t0019g0008 a0001c0003t0001g0199 a0001c0003t0002g0049 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0003g0316 a0001c0003t0008g0011 a0001c0003t0008g0013 a0001c0005t0008g0009 a0001c0005t0008g0016 a0001c0005t0008g0026 a0001c0008t0009g0315 a0001c0016t0004g0042 a0001c0016t0012g0017 a0001c0016t0012g0021 a0001c0016t0020g0019 a0001c0018t0008g0027 a0001c0019t0008g0007 a0001c0026t0015g0023 a0001c0035t0001g0198 a0001c0044t0008g0022 a0001c0058t0021g0020 a0009c0022t0008g0024 a0009c0022t0008g0025 a0023c0046t0018g0018	28	35	0.8000	601	c.140 others(618): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(594): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAG TCCGTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCC CCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCC TCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCC ACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGC CCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCA GTCCCCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCC TCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGG CT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02572.hp2 others(7): Show HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp1	a0001 a0007 a0014 a0001 a0007 a0014	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0041 a0001c0052 a0001c0054 a0001c0055 a0007c0021 a0014c0042	a0001c0001t0004 a0001c0001t0013 a0001c0004t0028 others(7): Show a0001c0001t0004 a0001c0001t0013 a0001c0004t0028 a0001c0005t0002 a0001c0041t0004 a0001c0052t0022 a0001c0054t0017 a0001c0055t0017 a0007c0021t0004 a0014c0042t0002	a0001c0001t0004g0037 a0001c0001t0013g0033 a0001c0004t0028g0177 others(7): Show a0001c0001t0004g0037 a0001c0001t0013g0033 a0001c0004t0028g0177 a0001c0005t0002g0038 a0001c0041t0004g0036 a0001c0052t0022g0030 a0001c0054t0017g0031 a0001c0055t0017g0035 a0007c0021t0004g0032 a0014c0042t0002g0040	10	17	0.5882	601	c.140 others(618): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPBWR2_chr20_64098802_64112565	64105504	T T	TGGGTGGG others(594): Show TGGGTGGGGGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGG GGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGGGGGTGGGCGTGA TGGTGGATGTGATGGGGGTGGGCATGATGATGGGCGTGATGATGGGGGTG GTGGTGGGGGTGATGGTGGGGGTGGTGGTGGGCGTGATGATGGGGGTGAT GGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGG TGATGGGGGTGGGCGTGATGGTGGATGTGATGGGGGTGGGCATGATGATG GGCGTGATGATGGGGGTGGTGGTGGGGGTGATGGTGGGGGTGGTGGTGGG CGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGG TGGGGGGTGGGGGTGGGGGTGATGGGGGTGGGCGTGATGGTGGATGTGAT GGGGGTGGGCATGATGATGGGCGTGATGATGGGGGTGGTGGGGGTGGGCG TGATGGTGGATGTGATGGGGGTGGGCATGATGATGGGCATGATGATGGGC GTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGT GG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0082 a0001c0002t0082	a0001c0002t0082g0072 a0001c0002t0082g0072	1	352	0.0028	601	c.32 others(610): Show c.325_*326insCCACCATCACCCCCACCCCCACCACCACCCCCACCA TCACCCCCATCATCACGCCCATCATCATGCCCATCATCATGCCCACCCCC ATCACATCCACCATCACGCCCACCCCCACCACCCCCATCATCACGCCCAT CATCATGCCCACCCCCATCACATCCACCATCACGCCCACCCCCATCACCC CCACCCCCACCCCCCACCATCACCCCCACCCCCACCACCACCCCCACCAT CACCCCCATCATCACGCCCACCACCACCCCCACCATCACCCCCACCACCA CCCCCATCATCACGCCCATCATCATGCCCACCCCCATCACATCCACCATC ACGCCCACCCCCATCACCCCCACCCCCACCCCCACCATCACCCCCACCCC CACCACCACCCCCACCATCACCCCCATCATCACGCCCACCACCACCCCCA CCATCACCCCCACCACCACCCCCATCATCACGCCCATCATCATGCCCACC CCCATCACATCCACCATCACGCCCACCCCCATCACCCCCACCCCCACCCC CACCATCACCCCCACCCCCACCACCACCCCCACCATCACCCCCATCATCA CGCCCACCCCCACCC	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	325		chr20	TogoVar

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