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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(458): Show GGCTTGGGAGCAAGGCTGGTGGTCTCCACGAGGCCCCCCAGCTCCACTGC GCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGT CTCCACGAGGCCCCCCAGCTCCACTGCACCCGCCCCAGCCTCATCGCGCC ACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCA CTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGC TGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCG CGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGC TCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCA AGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTC ATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0277 a0001c0001t0006g0277	1	392	0.0026	465	c.329 others(482): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGG GCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGG CTGGGGCGGGTGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCT CCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTG GGGGGCCTCGTGGAGACCACCAGCCTTGCTCCCAAGC		QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11						chr9	TogoVar
RAB11FIP3_chr16_420649_528011	468176	A A	AAGGGCGT others(458): Show AAGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGG GGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAG GAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTG CAGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAG GGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGA GGTCCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCT GGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGGTGCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0058 a0001c0006t0058	a0001c0006t0058g0111 a0001c0006t0058g0111	1	295	0.0034	465	c.809 others(482): Show c.809-3119_809-3118insAGGGCGTCAGGGAGGAGGAGGTCCTGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTCCTGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTCCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTCCTG GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCT		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13						chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504407	T T	TTCCTGTA others(458): Show TTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCCTCACCTCTTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT CACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTG CACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCAC CTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAACCC TCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCT GTACCCCCTCACCTCC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0012 a0012c0025t0002g0012	1	295	0.0034	465	c.139 others(484): Show c.1396-1112_1396-1111insTACCCGCCTCACCTCCTCCTGCACTC CCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCCCTCA CCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTA CCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCACCTC CTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT CACCTCCTTGTGCAACCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831014	T T	TCACCCCC others(458): Show TCACCCCCCCTCCCCCTCCCTTCCACCCTTCACCTCCCTTCCTCCCTTCC TCCCCTCCTTCCCCTCCTTCCCTTCCCTCCCTTCCCCCTCCCCTCCCTTC CCCTACCCTCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTC CTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCTCCCCTCCTTCCCCTCCCC TCCCCTTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCC TTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCC TACACTTCCCGTCCCCTCCCCTTCCCTACACTTCCTTCCCTCCCTCCCCT CCCTTTCCCTCCTCTTCCCTCCCCTCCCCTTCCCGTCCCCTTCCCTCCTT CCCCTCCCCCCACCCTCCCTTCCCTCCTTTCTTCTCTCCCCCTCCCCTCC CCTTCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0073 a0002c0006t0073	a0002c0006t0073g0119 a0002c0006t0073g0119	1	218	0.0046	465	c.80+ others(482): Show c.80+30465_80+30466insACCCCCCCTCCCCCTCCCTTCCACCCTT CACCTCCCTTCCTCCCTTCCTCCCCTCCTTCCCCTCCTTCCCTTCCCTCC CTTCCCCCTCCCCTCCCTTCCCCTACCCTCCTCTCCCCTCCCTCCCCTCC CCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTC CTCCCCTCCTTCCCCTCCCCTCCCCTTCCCCTCCCTTCCCCTCCCCTCCT CTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACAC TTCCCTCCCCTCCCCTTCCCTACACTTCCCGTCCCCTCCCCTTCCCTACA CTTCCTTCCCTCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCCT TCCCGTCCCCTTCCCTCCTTCCCCTCCCCCCACCCTCCCTTCCCTCCTTT CTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCC		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CCCCTCCT others(458): Show CCCCTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTC CCCTCCTCTCCCCTCCCCTCCCTCCCCTCCTTCCCCTCTCCTTCCTTCCC CTCCCCTCCCTTCCTCCCTTTCCCTCCCCTCCCTCTTCCCCTCCCCCTCC CCTTCCCCTCCCTTCCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCTCCC TTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCCTTC CCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCC CCTTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTC CCTTCCCCTCCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCTCCC CTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCCTCC CTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0057 a0001c0010t0057	a0001c0010t0057g0090 a0001c0010t0057g0090	1	218	0.0046	465	c.80+ others(482): Show c.80+30509_80+30510insCCCTCCTTCCCCTCCCCTTCCCTCCCTT CCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCCTCCCTCCCCTC CTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCTTCCTCCCTTTCCCTCCCC TCCCTCTTCCCCTCCCCCTCCCCTTCCCCTCCCTTCCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCTCCCTTTTTCTCCCTTCCCCTCCCATCCCCTAC ACTTCCCTCCCCTCCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTA CACTTCCCTTCCCTCCCCTCCCCTTCCCTTTCCCTCCTCTTCCCTCCCCT CCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCC TCCCTTCTTCTCTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCC CCTCCCTTTCCCTCCCCCTCCCTCCCCTCCCTTCCCA		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24						chr17	TogoVar
RFX2_chr19_5988164_6115500	6069986	T T	TGGATGGG others(458): Show TGGATGGGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGG ATGGAATGGGATGTGGATGGGATAGAATCGGATGTGAATGGGGTGGAATG GGATATGATGGGGTGGGATGGGATGTGGATGGGATGGGATGGGATGTGGA TGGGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGGATAG AATCGGATGTGAATGGGGTGGAATGGGATGTGAATGGGGTGGGATGGGAT GTGGATGGGGTGGGATGGGATGGGATGTGGATGGGATGGAATGGGATGTG GATGGGATGTGATGGGATGTGGATGGGGTGGAACGGGATGTGGATGGGGT GGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGG ATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGAT AGAGTGGGATGGGATG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	308	0.0033	465	c.-8- others(482): Show c.-8-22483_-8-22482insCATCCCATCCCACTCTATCCACATCCCT TTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCC CATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACA TCCCGTTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTC CATCCCATCCACATCCCATCCCATCCCACCCCATCCACATCCCATCCCAC CCCATTCACATCCCATTCCACCCCATTCACATCCGATTCTATCCCATCCA CATCCCATTCCATCCCATCCACATCCCATTCCATCCCATCCACATCCCAT CCCATCCCATCCACATCCCATCCCACCCCATCATATCCCATTCCACCCCA TTCACATCCGATTCTATCCCATCCACATCCCATTCCATCCCATCCACATC CCATTCCATCCCATCCACATCCCATTCCATCCCATCC		RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17						chr19	TogoVar
RGS12_chr4_3288021_3444913	3341470	C C	CGGGGGGA others(458): Show CGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGG AGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGG AGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTG GGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGG GTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGT GGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGA GATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGG GTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAG GGTGGAGAGATGGTGT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0007 a0007	a0007c0024 a0007c0024	a0007c0024t0001 a0007c0024t0001	a0007c0024t0001g0282 a0007c0024t0001g0282	1	312	0.0032	465	c.188 others(484): Show c.1882-1438_1882-1437insGTGGGCGGAGGGGAGGGTGGAGAGAT GGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAG GGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTG TGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAG GGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGG GGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAG GGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGG GCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGA GAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGT		RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(458): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA TAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATA TATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	426	0.0024	465	c.22 others(476): Show c.2236_*2237insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2042		chr13	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATGGT others(458): Show ATGATGGTGGTGGTGATGGTAGAGATGATGGTGATGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTAGAGA TGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGATGGTGATGGTAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGT GATGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGATGGTGATGA TGGAGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTG ATGATGGTGACGGTGATGGTAGAGATGATAGTGATGGTGGTGGTGATGAT GGTGGTGATGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGG TGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATGGTG GTGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG03209.hp2 others(4): Show HG01884.hp1 HG02109.hp1 HG03209.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0012 a0001c0067 others(3): Show a0001c0005 a0001c0012 a0001c0067 a0001c0072 a0001c0075 a0002c0062	a0001c0005t0026 a0001c0005t0067 a0001c0012t0018 others(4): Show a0001c0005t0026 a0001c0005t0067 a0001c0012t0018 a0001c0067t0068 a0001c0072t0006 a0001c0075t0012 a0002c0062t0018	a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0012t0018g0194 others(4): Show a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0012t0018g0194 a0001c0067t0068g0110 a0001c0072t0006g0108 a0001c0075t0012g0127 a0002c0062t0018g0191	7	196	0.0357	465	c.349 others(482): Show c.349-7097_349-7096insATGGTAGAGATGATGGTGATGGTGGTGG TGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATG GTAGAGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGATGGTGATGGTAGAGATGGTGATGGTGGTGATGATGATGG TCGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGATG GTGATGATGGAGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGT GGTGGTGATGATGGTGACGGTGATGGTAGAGATGATAGTGATGGTGGTGG TGATGATGGTGGTGATGGTGGTGGTGGTGATGATGGTGATGGTGATGGTA GAGATGGTGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGAT GATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RXRA_chr9_134321455_134445585	134369295	A A	ATGTGTGT others(458): Show ATGTGTGTGTGAGTGCAGGGGTTGTGTGTGTGTGGGGGTTGTGTGTGTGT GTGAGTGCGGGGGTTATGTGTGTGAGTGCAGGGGTTATGTGTGTGTGGGG GTTGTGTGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTGTGTGTGT GAGTGCGGGGCTTGTGTGTGTGTGTGTGGGGGGGGTTATGTGTGTGGGGG GGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGG GGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCGGGGG TTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTGTGTG CGTGGGGGGGTTATGTGTGTGTGTGGGGTTATGTGTGTATGGGGGGTTAT GTGTGGGGGGGTTATATGTGTGTAGGGGGGTTGTGTGTGTGGGGGGTTAT GTGTGTGTGTGGGGGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp1 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0057 a0001c0001t0008 a0001c0001t0057	a0001c0001t0008g0141 a0001c0001t0057g0143 a0001c0001t0008g0141 a0001c0001t0057g0143	2	232	0.0086	465	c.29- others(482): Show c.29-32306_29-32305insTGGGGGTTGTGTGTGTGTGTGAGTGCGG GGGTTATGTGTGTGAGTGCAGGGGTTATGTGTGTGTGGGGGTTGTGTGTG TGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTGTGTGTGTGAGTGCGGGG CTTGTGTGTGTGTGTGTGGGGGGGGTTATGTGTGTGGGGGGGGTTATGTG TGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGT GTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGT GGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTGTGTGCGTGGGGGGG TTATGTGTGTGTGTGGGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGG GTTATATGTGTGTAGGGGGGTTGTGTGTGTGGGGGGTTATGTGTGTGTGT GGGGGTTGTGTGTGTGAGTGCAGGGGTTGTGTGTGTG		RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
SART1_chr11_65956734_65985137	65970998	T T	TGCTGAGG others(458): Show TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0210 a0001c0002t0003g0210	1	384	0.0026	465	c.157 others(484): Show c.1572+3207_1572+3208insCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG		SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(458): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATAGAATATAATATATAATATATTA TATATTATAGAATATAATATATAATATATTATATATTATAGAATATAATA TATAATATATTATATATTATAGAATATAATATATAATATATTATATATTA TAGAATATAATATATAATATATTATATATTATAGAATATAATATATAATA TATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03471.hp1 HG02572.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0311 a0001c0001t0002g0289 a0001c0001t0002g0311	2	340	0.0059	465	c.17 others(484): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATATTC TATAATATATAATATATTATATATTATATTCTATAATATATAATATATTA TATATTATATTCTATAATATATAATATATTATATATTATATTCTATAATA TATAATATATTATATATTATATTCTATAATATATAATATATTATATATTA TATTCTATAATATATAATATATTATATATTATATTCTATAATATATAATA TATTATATATTATATTCTATAATATATAATATATTATATATTATATTCTA TAATATATAATATATTATATATTATAGAATATAATATATAATATATTATA TATTATAGAATATAATATATAACATAATATATATTATAG		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(458): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATAGAATATAATATATAATATATTA TATATTATAGAATATAATATATAATATATTATATATTATAGAATATAATA TATAATATATTATATATTATAGAATATAATATATAATATATTATATATTA TAGAATATAATATATAATATATTATATATTATAGAATATAATATATAATA TATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0327 a0001c0001t0002g0327	1	340	0.0029	465	c.17 others(484): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATATTC TATAATATATAATATATTATATATTATATTCTATAATATATAATATATTA TATATTATATTCTATAATATATAATATATTATATATTATATTCTATAATA TATAATATATTATATATTATAGAATATAATATATAATATATTATATATTA TATTCTATAATATATAATATATTATATATTATATTCTATAATATATAATA TATTATATATTATATTCTATAATATATAATATATTATATATTATATTCTA TAATATATAATATATTATATATTATAGAATATAATATATAATATATTATA TATTATAGAATATAATATATAACATAATATATATTATAG		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(458): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATATTCTATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATAGAATATAATATATAATATATTA TATATTATAGAATATAATATATAATATATTATATATTATAGAATATAATA TATAATATATTATATATTATAGAATATAATATATAATATATTATATATTA TAGAATATAATATATAATATATTATATATTATAGAATATAATATATAATA TATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	340	0.0029	465	c.17 others(484): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATATTC TATAATATATAATATATTATATATTATATTCTATAATATATAATATATTA TATATTATATTCTATAATATATAATATATTATATATTATATTCTATAATA TATAATATATTATATATTATATTCTATAATATATAATATATTATATATTA TATTCTATAATATATAATATATTATATATTATATTCTATAATATATAATA TATTATATATTATATTCTATAATATATAATATATTATATATTATAGAATA TAATATATAATATATTATATATTATAGAATATAATATATAATATATTATA TATTATAGAATATAATATATAACATAATATATATTATAG		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SNTG2_chr2_945849_1372613	965110	A A	ACCCCAGT others(458): Show ACCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCC CAATCCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0012 a0006c0010t0001g0012	1	190	0.0053	465	c.72+ others(482): Show c.72+14097_72+14098insGGACCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATC CTCCTCCTGGCCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTG GACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827465	A A	AATATATT others(458): Show AATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	302	0.0033	465	c.12+ others(480): Show c.12+4019_12+4020insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TAAAATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATAT		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17						chr6	TogoVar
SORCS2_chr4_7187538_7747827	7724480	G G	GTGGTGAT others(458): Show GTGGTGATGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGGTGGTGGT GACAATGGTGGTGGTGATGGTGGTGATAGGGTGGTGGTGATGGTGATAGT AGTGGTGGGAATGGATGGTGGTGGTGATGGTGATGGTGGTGGTGTTGGTG ATGATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGA GGTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGG TGTTGGTGATGGTGGTGATAGTGTTGGTGGGAATGGATGGTGGTAGTAGT GGTGATGGTGGTGGTGGTGATAGGGTGATGGTGATGATGGTAACAGTAGT GGTAGTAATGGTGATGATGGTGGTGATAGGGTGGTGGTGATGGTGATAGT AGTGGTGGGAATGGATGGTGGTGGTGATAATGGTGACAATGGTGGTGGTG ATGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG02976.hp1 others(3): Show HG01891.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03579.hp1 HG03579.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0002 a0003c0046 a0004c0007 others(2): Show a0001c0002 a0003c0046 a0004c0007 a0006c0008 a0006c0045	a0001c0002t0001 a0003c0046t0001 a0004c0007t0001 others(2): Show a0001c0002t0001 a0003c0046t0001 a0004c0007t0001 a0006c0008t0001 a0006c0045t0001	a0001c0002t0001g0123 a0003c0046t0001g0164 a0004c0007t0001g0026 others(3): Show a0001c0002t0001g0123 a0003c0046t0001g0164 a0004c0007t0001g0026 a0004c0007t0001g0126 a0006c0008t0001g0006 a0006c0045t0001g0148	6	168	0.0357	465	c.261 others(482): Show c.2611+599_2611+600insGTGATGGTGGTGGTGATGGTGATGGTGG TGATGATGGTGGTGGTGGTGACAATGGTGGTGGTGATGGTGGTGATAGGG TGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGGTGGTGGTGATGGT GATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTGGTGAGGATGG TGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGTG GTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGTTGGTGGG AATGGATGGTGGTAGTAGTGGTGATGGTGGTGGTGGTGATAGGGTGATGG TGATGATGGTAACAGTAGTGGTAGTAATGGTGATGATGGTGGTGATAGGG TGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGGTGGTGGTGATAAT GGTGACAATGGTGGTGGTGATGGTGATGGTGGTGATG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SRMS_chr20_63533489_63552749	63535975	C C	CCCCTCCT others(458): Show CCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCTCCTGGCCTCCCGCCCCC TCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCC TCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCAC CTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTG GCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCC TCCCGCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCC GCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCC CCCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCC TCCTCACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCACCCCGTCCT CACCTGGCCTCCCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0070 a0005c0007t0002g0070	1	356	0.0028	465	c.48 others(476): Show c.4842_*4843insTGCGGGAGGCCAGGTGAGGACGGGGTGGGAGGCC AGGTGAGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGT GAGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAG GGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGG CGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGG GAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAG GCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCC AGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGA GAGGAGGGGGCGGGAGGCCAGGTGAGGAGGG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2513		chr20	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(458): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAG GGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGAGGGAGGGGGGAGGGAGGGGGGAGAGGGAGGGGGGAGGGAGGGGGGAG AGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGG GAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0045 a0001c0004t0007g0045	1	276	0.0036	465	c.-18 others(484): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTC CCTCCCCCCTCCCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCCTCTCTC CCCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCTCCCTCC CTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTC TCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCT CTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC		SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8						chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(458): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGA GGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0188 a0001c0004t0014g0188	1	276	0.0036	465	c.-18 others(484): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCT CTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCTCTCCCC CCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCT CCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTC CCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTC		SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8						chr1	TogoVar
TECTA_chr11_121096243_121196490	121193174	T T	TAGATTGA others(458): Show TAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAGGAAGTAGACA TGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCCTCTGCCTTGG GATCCTGTTGATCTGTGACCTTACCCCCAACCCGGTGCTCTCTGAAACAT GTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGC TTTGTTAAACAGATGCTTGAAGGCAGCATGCTCCTTAAGAGTCATCACCA CTCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGG GTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTG ACCTTCCCTCCACTATTGTCCCATGACCCTGCCATATCCTCCTCTGTGAG AAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	348	0.0029	465	c.23 others(476): Show c.2368_*2369insAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGT AGAAGGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAA ATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCGG TGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGG CGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCCT TAAGAGTCATCACCACTCCCTAATCTCAAGTAATCAGGGACACAAACACT GCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCA CTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAT ATCCTCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding					1685		chr11	TogoVar
TEDC2_chr16_2455109_2469963	2466524	A A	ATACAAAA others(458): Show ATACAAAAAAATTAGCCCGGTGTGGTGGCATGCACCTGTGGTCCCAGTTA CCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTG CAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAG ACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCGGCGTGGTGTGTGCCT GCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAATGTACTCCAGCCTGG GCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAGGCAGG CACGGTGGCTCATGACTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGC GGATCACGAGGTCAGGAGATCAAGACCAGCCTGACCAACATGGTGAAACC TCGTCTCTACTAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG06807.hp1 HG02809.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0002g0014 a0001c0001t0002g0033	2	378	0.0053	465	c.18 others(476): Show c.1856_*1857insTACAAAAAAATTAGCCCGGTGTGGTGGCATGCAC CTGTGGTCCCAGTTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGAGGTTGCAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCT GGGCAACAGAGTGAGACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCG GCGTGGTGTGTGCCTGCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAA TGTACTCCAGCCTGGGCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAA AAAAAAAAAGGCAGGCACGGTGGCTCATGACTGTAATCCCAGCACTTTGG AAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGAC CAACATGGTGAAACCTCGTCTCTACTAAAAC		TEDC2	ENSG00000162062.15	transcript	ENST00000361837.9	protein_coding					1562		chr16	TogoVar
TMEM163_chr2_134450759_134724000	134607414	A A	ATGAAAAG others(458): Show ATGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGA CCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGT GAAAAGGACAGACCCCGAGAACTGTGCTGATGAAAAGGACAGACCCCGAG AACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACC CCGAGAACTGTGCTGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03942.hp2 HG04204.hp1 HG01934.hp1 HG03942.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0003g0067 a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0003g0067	3	222	0.0135	465	c.323 others(484): Show c.323-55324_323-55323insCCAGCACAGTTCTCGGGGTCTGTCCT TTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTC GGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACC AGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGTACAGTTCTCGGGGTCT GTCCTTTTCATCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGTACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGG GGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAG CACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT CCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCA		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7						chr2	TogoVar
TMEM163_chr2_134450759_134724000	134607414	A A	ATGAAAAG others(458): Show ATGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGA CCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGT GAAAAGGACAGACCCCGAGAACTGTGCTGATGAAAAGGACAGACCCCGAG AACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACC CCGAGAACTGTGCTGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	222	0.0045	465	c.323 others(484): Show c.323-55324_323-55323insCCAGCACAGTTCTCGGGGTCTGTCCT TTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTC GGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACC AGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGTACAGTTCTCGGGGTCT GTCCTTTTCATCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGG GGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAG CACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT CCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCA		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7						chr2	TogoVar
TPCN2_chr11_69043932_69095597	69077105	T T	TTGCCCTC others(458): Show TTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACTTGCCCTCCTGCCCTCC TGTTGTGTCTGTCCACTTTCCCTCCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCGTGTCCCTCCACTTGCCCTCCTGCCCTCCTGTTGTGTC TGTCCACTTTCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCT GCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCT GCCCTCCTGCCATGTCCCTCCACCTGCCCTCTTGCCACGTCCCTCCACCT GCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCTCTGCCACGTC CCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCTT GCCACGTCCCTCCACC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0230 a0002c0002t0001g0230	1	404	0.0025	465	c.123 others(484): Show c.1231-1332_1231-1331insATGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTCCACTTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCC TCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCC ACTTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCCTCCTGCCCT CCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCT CCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCA CCTGCCCTCTTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATG TCCCTCCACCTGCCCTCTCTGCCACGTCCCTCCACCTGCCCTCCTGCCCT CCTGCCATGTCCCTCCACCTGCCCTCTTGCCACGTCCCTCCACCTGCCCT CCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCC		TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507397	T T	TCTACATG others(458): Show TCTACATGTACACATGTATACATGTATACACGTGTATACGTATACACGTG TATACACGTGTATACGTGTATACGTGTATACACGTGTATACGTGTATACG TGTGTATACACGTGTATACGTGTATACGTGTGTATACACGTATACGTGTA TACGTGTGTATACACGTATACGTGTATACGTGTGTATACATGTATACGTG TATACGTGTGTATACATGTATACGTGTATACGTGTGTATACATGTATACG TGTATACGTGTGTATACATGTGTATACGTGTATACGTGTGTATACATGTG TATACGTGTATACGTGTGTATACATGTGTATACGTGTATACGTGTGTATA CATGTATACGTGTATACGTGTGTATACATGTATATGTGTATACGTGTGTA TACATGTATATGTGTATACGTGTGTATACATGTATGTATGTGTATATGTG TATACATGTATATATG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	388	0.0026	465	c.-23 others(482): Show c.-23+2650_-23+2651insCATATATACATGTATACACATATACACA TACATACATGTATACACACGTATACACATATACATGTATACACACGTATA CACATATACATGTATACACACGTATACACGTATACATGTATACACACGTA TACACGTATACACATGTATACACACGTATACACGTATACACATGTATACA CACGTATACACGTATACACATGTATACACACGTATACACGTATACATGTA TACACACGTATACACGTATACATGTATACACACGTATACACGTATACATG TATACACACGTATACACGTATACGTGTATACACACGTATACACGTATACG TGTATACACACGTATACACGTATACACGTGTATACACACGTATACACGTA TACACGTGTATACACGTATACACGTATACACGTGTATACACGTGTATACG TATACACGTGTATACATGTATACATGTGTACATGTAG		TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6						chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507397	T T	TCTACATG others(458): Show TCTACATGTACACATGTATACATGTATACACGTGTATACGTATACACGTG TATACACGTGTATACGTGTATACGTGTATACACGTGTATACGTGTATACG TGTGTATACACGTGTATACGTGTATACGTGTGTATACATGTATACGTGTA TACGTGTGTATACATGTATACGTGTATACGTGTGTATACATGTATACGTG TATACGTGTGTATACATGTATACGTGTATACGTGTGTATACATGTGTATA CGTGTATACGTGTGTATACATGTGTATACGTGTATACGTGTGTATACATG TGTATACGTGTATACGTGTGTATACATGTATACGTGTATACGTGTGTATA CATGTATACGTGTATACGTGTGTATACATGTATATGTGTATACGTGTGTA TACATGTATATGTGTATACGTGTGTATACATGTATGTATGTGTATATGTG TATACATGTATATATG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	388	0.0026	465	c.-23 others(482): Show c.-23+2650_-23+2651insCATATATACATGTATACACATATACACA TACATACATGTATACACACGTATACACATATACATGTATACACACGTATA CACATATACATGTATACACACGTATACACGTATACATGTATACACACGTA TACACGTATACATGTATACACACGTATACACGTATACACATGTATACACA CGTATACACGTATACACATGTATACACACGTATACACGTATACACATGTA TACACACGTATACACGTATACATGTATACACACGTATACACGTATACATG TATACACACGTATACACGTATACATGTATACACACGTATACACGTATACA TGTATACACACGTATACACGTATACACGTGTATACACACGTATACACGTA TACACGTGTATACACGTATACACGTATACACGTGTATACACGTGTATACG TATACACGTGTATACATGTATACATGTGTACATGTAG		TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6						chr11	TogoVar
TRIM28_chr19_58539064_58555715	58539096	C C	CCACACAC others(458): Show CCACACACACCCTGCTTCCCTGCTCAGACAGGATTCTCCCCACACAGAAC CTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGAACCTGCTTCCCTC CTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGA TTCTCCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACA CACACCCTGCTTCCCTCCTCAGACATGATTCTTCTCACACACACCCTGCT TCCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACA GGATTCTTCTCACACACACCCTGCTTCCCTGCTCAGACAGGATTCTCCCC ACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCT GCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTCCT CAGACAGGATTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	402	0.0025	465	c.-56 others(476): Show c.-5662_-5661insCACACACACCCTGCTTCCCTGCTCAGACAGGATT CTCCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACA GAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTC CCTCCTCAGACAGGATTCTCCCCACACAGAACCTGCTTCCCTCCTCAGAC AGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACATGATTCTTCT CACACACACCCTGCTTCCCTCAGACAGGATTCTCCCCACACACACCCTGC TTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTGCTCA GACAGGATTCTCCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCT CCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACA CCCTGCTTCCCTCCTCAGACAGGATTCTTCT		TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding					4967		chr19	TogoVar
TSPAN9_chr12_3072379_3291559	3198660	T T	TCACCACC others(458): Show TCACCACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTC ACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCAC CACCAGCACCATCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCAC AGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGG TCACACCAGCACAGCTCACCACCAGCACAGGTCACACCAGCACAGGCCAC CACCAGCACAGGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCA GCACAGGTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCA CAGGTCACCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAG GTCACCACCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGCT CACCACCAGCACAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03239.hp1 HG03704.hp2 others(4): Show HG00140.hp1 HG03239.hp1 HG03704.hp2 NA18945.hp2 NA18962.hp1 NA18966.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 others(3): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0067 a0001c0001t0076 a0001c0002t0098	a0001c0001t0006g0139 a0001c0001t0008g0085 a0001c0001t0011g0180 others(4): Show a0001c0001t0006g0139 a0001c0001t0008g0085 a0001c0001t0011g0180 a0001c0001t0011g0218 a0001c0001t0067g0094 a0001c0001t0076g0220 a0001c0002t0098g0198	7	288	0.0243	465	c.-17 others(482): Show c.-17-2486_-17-2485insCCACCACCAGCACAGGTCACCACCAGCA CAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACC ATCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGGCCACCAC CAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGTCACACCAGC ACAGCTCACCACCAGCACAGGTCACACCAGCACAGGCCACCACCAGCACA GGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCAGCACAGGTCA CACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACCA CCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGTCACCACCA GCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGCTCACCACCAGC ACAGGCCACCACCAGCACAGGCCACCACCAGCACAGG		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TWIST2_chr2_238843085_238915534	238870213	C C	CCCACACA others(458): Show CCCACACACACCACACACCCCACACACACCACACACCCCACACACACACC ACACCCCACACACACACACACACCACACACCCCCCACACACCACACCCCA CACACACCACACACCCCACACACACATCACATACCCCACACACCACACAC CCCACACACACCCACACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACACACCACACACACCACACACCCCCCACACAC CCACACCCCACACACACCACACACCCCACACACACATCACATACCCCACA CACCACACACCCCACACACACCACACACCCCCACACACCACACAACCCCA CACACACACCACACCCCACACACACCACACACCCCACACACACCACACAC CCCACACACACCACACAAACCACACACCCTACACACCCCACACACACCAC ACACACACATCACATA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	338	0.0030	465	c.35 others(484): Show c.35+21490_*35+21491insCACACACCCCACACACACCACACACC CCACACACACACCACACCCCACACACACACACACACCACACACCCCCCAC ACACCACACCCCACACACACCACACACCCCACACACACATCACATACCCC ACACACCACACACCCCACACACACCCACACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCACACACACCACACACACCACAC ACCCCCCACACACCCACACCCCACACACACCACACACCCCACACACACAT CACATACCCCACACACCACACACCCCACACACACCACACACCCCCACACA CCACACAACCCCACACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870350	A A	ACCCCATA others(458): Show ACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCATACACACCACACACACCACACACCCCAC ACACACCACACCCCACACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACACCACACCCCATACACACCACACCCCACACAC CCCCCACACACCACACCCCATACACACCACACCCCACACACCCCCCACAC ACCACACCCCATACACACCACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	338	0.0030	465	c.35 others(484): Show c.35+21618_*35+21619insCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCATACACA CCACACACACCACACACCCCACACACACCACACCCCACACACCCCACACA CACCACACCCCATACACACCACACCCCACACACACCACACACCACACCCC ATACACACCACACCCCACACACCCCCCACACACCACACCCCATACACACC ACACCCCACACACCCCCCACACACCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACCCCACACACACC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870354	C C	CCCCCCAC others(458): Show CCCCCCACACCACACCCCATACACACCACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACACCCCCCACACACCACACCCCATACACACCACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCCC ACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCAT ACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCACAC ACCACACCCCACACACACCACACACCACACACACCACACCCCATACACAC CACACCCCATACACACCACACCCCACACACACCACACCCCACACACCACA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCCCACACACCACA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	338	0.0030	465	c.35 others(484): Show c.35+21623_*35+21624insCCCACACCACACCCCATACACACCAC ACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACACCCCCCACACACCACACCCCATAC ACACCACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACACCCCCCACACACCACACCCCACACACACCACACAC CCCCCACACACCACACACCATACACACCACACCCCACACACACCACACCC CCCACACACCACACCCCACACACCACACCCCACACACACCACACACCACA CACACCACACCCCATACACACCACACCCCATACACACCACACCCCACACA CACCACACCCCACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCCCACACACCACACC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870566	C C	CCCCACAC others(458): Show CCCCACACACACACACCCCACACACACCACACACACCACACACCCCCCAC ACACCACACCCCACACACACCACACCCCCACACACACATCACATACCCCA CACACCACACACCGCACACACACCACACACCCCCCCACACACCACACACC CCACACACACCACACACCCCACACACCACACCCACACACACCACACACAC CACACACACACACACCCCCCACACACCACACCCCACACACACCACACACC CCACACACACATCACATACCCCACACACCACACACCCCACACACACCACA CACCCCCCACACACCACACACCCCACCACACACCACACCCCACACACACC ACACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTCACACCCCACACACACCACACACACACATCACATACCACCACACAT CACATACCACACACAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	338	0.0030	465	c.35 others(484): Show c.35+21833_*35+21834insCCCACACACACACACCCCACACACAC CACACACACCACACACCCCCCACACACCACACCCCACACACACCACACCC CCACACACACATCACATACCCCACACACCACACACCGCACACACACCACA CACCCCCCCACACACCACACACCCCACACACACCACACACCCCACACACC ACACCCACACACACCACACACACCACACACACACACACCCCCCACACACC ACACCCCACACACACCACACACCCCACACACACATCACATACCCCACACA CCACACACCCCACACACACCACACACCCCCCACACACCACACACCCCACC ACACACCACACCCCACACACACCACACACCCCACACACACCACACACCCC ACACACACCACACAAACCACACACCCTCACACCCCACACACACCACACAC ACACATCACATACCACCACACATCACATACCACACACAA		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1						chr2	TogoVar
UMODL1_chr21_42066317_42147996	42109038	G G	GACCCCAC others(458): Show GACCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGCTGGACCCCAC CCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCAGCG TGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCGCGGGAAGTT CATGTTATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTAT ACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCCGCT GGACCCCACCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCAC CCCCCGCGCGGGAAGTTCATGTTATACTCAGCTGGACCCCACCCCCTGCG CGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCCCCACGAGAGA AGTCCATGTTATACTCAGGCGGATCCCCACTCCTGGCGTGTAAAGCTGGT GTTATGCTCAGCTGGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03540.hp2 HG02486.hp2 HG03540.hp2	a0010 a0039 a0010 a0039	a0010c0054 a0039c0127 a0010c0054 a0039c0127	a0010c0054t0022 a0039c0127t0006 a0010c0054t0022 a0039c0127t0006	a0010c0054t0022g0377 a0039c0127t0006g0284 a0010c0054t0022g0377 a0039c0127t0006g0284	2	400	0.0050	465	c.152 others(482): Show c.1520-524_1520-523insACCCCACCCCCGGCGTGGGAAGTTCATG TTGTACTCAGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTC CGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGAC CCCACCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCC AGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCAGCGTGGG AAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCGCGGGAAGTTCATG TTATACTCCGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTC AGCTGGACCCCACCCCCTGCGCGGGAAGTTCATGTTGTACTCAGGCTGAC CCCCACCCCCCCCACGAGAGAAGTCCATGTTATACTCAGGCGGATCCCCA CTCCTGGCGTGTAAAGCTGGTGTTATGCTCAGCTGGA		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	9/22						chr21	TogoVar
VPS53_chr17_503668_719839	556879	A A	ACTGAAGG others(458): Show ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG GAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAG GGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCC TCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTG GCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGC TGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGA GGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGG GGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTC TCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGC CAGGAGGGCCTCTCTG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0044 a0001c0006t0044	a0001c0006t0044g0096 a0001c0006t0044g0096	1	232	0.0043	465	c.170 others(484): Show c.1705-3418_1705-3417insCAGAGAGGCCCTCCTGGCCACCCCCC TTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCC TGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCA GAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCAC CCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGC CCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTT CAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTG GCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGA GAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCC CCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAG		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	15/21						chr17	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCATAT others(458): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATATATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATACATATCACACATATCATATATAT CATACATATCACATATATCATATATATCATACATATCACATATATGATAT ATATCATATATATCACATATATCATATATATCATATATATCACATATATG ATATATATATCATATATATCACATATATGATATATATATCATATATATCA CATATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	350	0.0029	465	c.-36 others(476): Show c.-3672_-3671insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATATATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATACATATCAC ACATATCATATATATCATACATATCACATATATCATATATATCATACATA TCACATATATGATATATATCATATATATCACATATATCATATATATCATA TATATCACATATATGATATATATATCATATATATCACATATATGATATAT ATATCATATATATCACATATATGATATATAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3568		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(458): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATATCACATATATCATATATATGATATATATCACAT ATATCATATATATGATATATATCACATATATCATATATATGATATATATC ATATATCATATATATGATATATATCACATATATATATCATATATATCACA TATATATCATATATATCATATATATATCATATATATCATATATATCATAT ATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA19003.hp1 NA19065.hp2 HG00609.hp2 NA19003.hp1 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0013 a0002c0002t0001g0095 a0002c0002t0001g0001 a0002c0002t0001g0013 a0002c0002t0001g0095	3	350	0.0086	465	c.-34 others(476): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATATCACATATATCATATATA TGATATATATCACATATATCATATATATGATATATATCACATATATCATA TATATGATATATATCATATATCATATATATGATATATATCACATATATAT ATCATATATATCACATATATATCATATATATCATATATATATCATATATA TCATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(458): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATGTCACATAT ATCACATGTGATATATATCATATATATCATATATATGATATATATCATAT ATATCATATATATGATATATATCATATATATCATATATATGATATATATC ATATATCATATATATGATATATATCACATATATATATCATATATATCACA TATATATCATATATATCATATATATATCATATATATGATATATATCATAT ATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	350	0.0029	465	c.-34 others(476): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATGTCACATATATCACATGTGATATATATCATATATATCATATATA TGATATATATCATATATATCATATATATGATATATATCATATATATCATA TATATGATATATATCATATATCATATATATGATATATATCACATATATAT ATCATATATATCACATATATATCATATATATCATATATATATCATATATA TGATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(458): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATATATGATATATATCATAT ATATCATATATATGATATATATCATATATATCATATATATGATATATATC ATATATCATATATATGATATATATCACATATATATATCATATATATCACA TATATATCATATATATCATATATATATCATATATATCATATATATCATAT ATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	465	c.-34 others(476): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATATA TGATATATATCATATATATCATATATATGATATATATCATATATATCATA TATATGATATATATCATATATCATATATATGATATATATCACATATATAT ATCATATATATCACATATATATCATATATATCATATATATATCATATATA TCATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(458): Show CATATGTGATATATATTGTATATATGATATATATCATATATATCATATGT GATATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATATATGATATATATCACATATATCATATATATGATATATATCAT ATATATCATATATATGATATATATCATATATCATATATATGATATATATC ATATATCATATATATGATATATATCACATATATATATCATATATATCACA TATATATCATATATATCATATATATATCATATATATGATATATATCATAT ATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	350	0.0029	465	c.-34 others(476): Show c.-3494_-3493insATATGTGATATATATTGTATATATGATATATATC ATATATATCATATGTGATATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATATATGATATATATCACATATATCATATA TATGATATATATCATATATATCATATATATGATATATATCATATATCATA TATATGATATATATCATATATCATATATATGATATATATCACATATATAT ATCATATATATCACATATATATCATATATATCATATATATATCATATATA TGATATATATCATATATATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ZNF681_chr19_23734195_23763891	23753117	A A	AGCCAGGC others(458): Show AGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGA GGCAGGTGGATCATCTGAGGTCAAAAGTTCAAGACCAGCCTGGCCAACAT ACTGAAACCCCATCTATACTAAAAATACAAAAATTAGCCAGGCATGGGTG GCATGTGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGATAATTGC TTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCAGTGCAC TCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAATCTTATTT ACGATAGCATTAAAATAAATTTCTGAGAAGAAATTTAATCAAAGAGGTAG AAAATCTTTACAATGAAAGATATATCAATGAGAGAAATTAGAAAAGACAC AAATAAATTTAAAAATATTTCATGTCTATAGATTGAAAGAATAAATACTG TTAAAGTGCCATGTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(372): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0006 a0001c0015 others(12): Show a0001c0001 a0001c0006 a0001c0015 a0002c0002 a0003c0003 a0003c0013 a0005c0005 a0006c0007 a0008c0009 a0009c0017 a0010c0011 a0011c0016 a0012c0014 a0013c0010 a0014c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0006t0001 a0001c0015t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0014 a0002c0002t0017 a0002c0002t0034 a0003c0003t0001 a0003c0003t0003 a0003c0003t0026 a0003c0003t0032 a0003c0013t0001 a0005c0005t0010 a0006c0007t0001 a0008c0009t0007 a0009c0017t0005 a0010c0011t0007 a0011c0016t0004 a0012c0014t0001 a0013c0010t0020 a0014c0012t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(238): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0039 a0001c0001t0002g0056 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0195 a0001c0001t0003g0071 a0001c0001t0003g0095 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0110 a0001c0001t0003g0160 a0001c0001t0003g0193 a0001c0001t0003g0208 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0123 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0194 a0001c0001t0005g0013 a0001c0001t0005g0048 a0001c0001t0005g0183 a0001c0001t0005g0188 a0001c0001t0005g0190 a0001c0001t0006g0008 a0001c0001t0006g0090 a0001c0001t0006g0098 a0001c0001t0006g0119 a0001c0001t0011g0172 a0001c0001t0011g0173 a0001c0001t0011g0182 a0001c0001t0011g0191 a0001c0001t0013g0151 a0001c0001t0013g0162 a0001c0001t0013g0171 a0001c0001t0016g0241 a0001c0001t0016g0242 a0001c0001t0018g0157 a0001c0001t0019g0134 a0001c0001t0022g0082 a0001c0001t0023g0156 a0001c0001t0024g0186 a0001c0001t0025g0109 a0001c0001t0027g0101 a0001c0001t0028g0118 a0001c0001t0029g0150 a0001c0001t0030g0159 a0001c0001t0031g0136 a0001c0001t0033g0243 a0001c0006t0001g0252 a0001c0006t0001g0253 a0001c0006t0001g0254 a0001c0006t0001g0255 a0001c0015t0001g0099 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0003g0222 a0002c0002t0003g0227 a0002c0002t0003g0229 a0002c0002t0009g0052 a0002c0002t0009g0053 a0002c0002t0009g0218 a0002c0002t0009g0226 a0002c0002t0009g0238 a0002c0002t0012g0216 a0002c0002t0012g0217 a0002c0002t0012g0219 a0002c0002t0012g0234 a0002c0002t0014g0055 a0002c0002t0014g0237 a0002c0002t0017g0050 a0002c0002t0034g0221 a0003c0003t0001g0005 a0003c0003t0001g0027 a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0068 a0003c0003t0001g0070 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0094 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0247 a0003c0003t0003g0028 a0003c0003t0003g0067 a0003c0003t0026g0091 a0003c0003t0032g0083 a0003c0013t0001g0081 a0005c0005t0010g0035 a0005c0005t0010g0120 a0005c0005t0010g0170 a0005c0005t0010g0189 a0005c0005t0010g0192 a0006c0007t0001g0043 a0006c0007t0001g0155 a0006c0007t0001g0185 a0008c0009t0007g0250 a0009c0017t0005g0179 a0010c0011t0007g0251 a0011c0016t0004g0122 a0012c0014t0001g0105 a0013c0010t0020g0184 a0014c0012t0007g0209	375	394	0.9518	465	c.226 others(482): Show c.226+1705_226+1706insCAACATGGCACTTTAACAGTATTTATTC TTTCAATCTATAGACATGAAATATTTTTAAATTTATTTGTGTCTTTTCTA ATTTCTCTCATTGATATATCTTTCATTGTAAAGATTTTCTACCTCTTTGA TTAAATTTCTTCTCAGAAATTTATTTTAATGCTATCGTAAATAAGATTTT TTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCACTGGTGC AATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTATCCTG CCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACATGCCACCCATGCCTG GCTAATTTTTGTATTTTTAGTATAGATGGGGTTTCAGTATGTTGGCCAGG CTGGTCTTGAACTTTTGACCTCAGATGATCCACCTGCCTCAGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGC		ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding	3/3						chr19	TogoVar
ZNF681_chr19_23734195_23763891	23753117	A A	AGCCAGGC others(458): Show AGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGA GGCAGGTGGATCATCTGAGGTCAAAAGTTCAAGACCAGCCTGGCCAACAT ACTGAAACCCCATGTATACTAAAAATACAAAAATTAGCCAGGCATGGGTG GCATGTGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGATAATTGC TTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCAGTGCAC TCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAATCTTATTT ACGATAGCATTAAAATAAATTTCTGAGAAGAAATTTAATCAAAGAGGTAG AAAATCTTTACAATGAAAGATATATCAATGAGAGAAATTAGAAAAGACAC AAATAAATTTAAAAATATTTCATGTCTATAGATTGAAAGAATAAATACTG TTAAAGTGCCATGTTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	394	0.0025	465	c.226 others(482): Show c.226+1705_226+1706insCAACATGGCACTTTAACAGTATTTATTC TTTCAATCTATAGACATGAAATATTTTTAAATTTATTTGTGTCTTTTCTA ATTTCTCTCATTGATATATCTTTCATTGTAAAGATTTTCTACCTCTTTGA TTAAATTTCTTCTCAGAAATTTATTTTAATGCTATCGTAAATAAGATTTT TTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCACTGGTGC AATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTATCCTG CCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACATGCCACCCATGCCTG GCTAATTTTTGTATTTTTAGTATACATGGGGTTTCAGTATGTTGGCCAGG CTGGTCTTGAACTTTTGACCTCAGATGATCCACCTGCCTCAGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGC		ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding	3/3						chr19	TogoVar
ZNF681_chr19_23734195_23763891	23753138	C C	CCTGTAAT others(458): Show CCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGT CAAAAGTTCAAGACCAGCCTGGCCAACATACTGAAACCCCATCTATACTA AAAATACAAAAATTAGCCAGGCATGGGTGGCATGTGCCTATAGTCCCAGC TACTTGGGAGGCTGAGGCAGGATAATTGCTTGAACCCGGGAGGCAGAGGT TGCAGTGAGCCGAGATTGCACCAGTGCACTCCAGCCTGGGCAACAGAGCA AGACTCTGTCTCAAAAAAAAATCTTATTTACGATAGCATTAAAATAAATT TCTGAGAAGAAATTTAATCAAAGAGGTAGAAAATCTTTACAATGAAAGAT ATATCAATGAGAGAAATTAGAAAAGACACAAATAAATTTAAAAATATTTC ATGTCTATAGATTGAAAGAATAAATACTGTTAAAGTGCCATGTTGGCCAG GCACGGTGGCTCACGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp2 HG02630.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0210 a0001c0001t0001g0212	2	394	0.0051	465	c.226 others(482): Show c.226+1684_226+1685insACGTGAGCCACCGTGCCTGGCCAACATG GCACTTTAACAGTATTTATTCTTTCAATCTATAGACATGAAATATTTTTA AATTTATTTGTGTCTTTTCTAATTTCTCTCATTGATATATCTTTCATTGT AAAGATTTTCTACCTCTTTGATTAAATTTCTTCTCAGAAATTTATTTTAA TGCTATCGTAAATAAGATTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCC CAGGCTGGAGTGCACTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCC CGGGTTCAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATA GGCACATGCCACCCATGCCTGGCTAATTTTTGTATTTTTAGTATAGATGG GGTTTCAGTATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAGATGAT CCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAG		ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding	3/3						chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(458): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATACATAT ATACTATATATATACATATATACACATATATACGTATATATATGTATATA TACATATATACGTGTATATACGTATATACATGTATATACGTATATATACA CATATATACATGTATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATACATG TATATATACACATATATACATGTATATATATACGTATATATACATGTATA TATACGTACGTATATATACATGTATATATACGTACGTATATATATACGTA TATATACACATATATACATGTATATATATACGTATATATACATATATACG TATATATATATACGTATATATACATATATACGTATATATATACGTATATA TACATATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0037 a0001c0005t0001g0037	1	383	0.0026	465	c.-42 others(476): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATACATATATACTATATATATACATATATACACATATATACGT ATATATATGTATATATACATATATACGTGTATATACGTATATACATGTAT ATACGTATATATACACATATATACATGTATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATACATGTATATATACACATATATACATGTATATATATACGT ATATATACATGTATATATACGTACGTATATATACATGTATATATACGTAC GTATATATATACGTATATATACACATATATACATGTATATATATACGTAT ATATACATATATACGTATATATATATACGTATATATACATATATACGTAT ATATATACGTATATATACATATATATACACA		ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding					4081		chr19	TogoVar
ZNF880_chr19_52364923_52390795	52384797	A A	AACCTTAC others(458): Show AACCTTACAAATGTAATGAATTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAACAAACAAACAAACAAAAAA AAAACAAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTT GCACAACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGA CTGTGGCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAG TTCACACTGGAGAGAG	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG02027.hp1 HG02027.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0093 a0004c0018t0001g0093	1	458	0.0022	465	c.123 others(474): Show c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAACAAACAAACAAACAAAAAAAAAACAA ATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTTGCACAAC ATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGACTGTGGC AAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAGTTCACAC TGGAGAGAGACCTTACAAATGTAATGAAT	p.Glu others(478): Show p.Glu412_Cys413insPheGlyArgProArgArgValAspHisGluVa lArgArgSerArgProSerTrpLeuThrArgTerAsnProValSerThrL ysAsnThrLysAsnTerProGlyAlaValAlaGlyAlaCysSerProSer TyrSerGlyGlyTerGlyArgArgMetAlaTerThrArgGluAlaGluLe uAlaValSerArgAspCysAlaThrAlaValArgSerLeuAlaTrpAlaT hrGluArgAspSerValSerLysLysLysGlnThrAsnLysGlnLysLys AsnLysCysAsnGluCysGlyLysValPheSerTyrAsnSerHisLeuAl aGlnHisGlnArgIleHisThrGlyGluLysProTyrLysCysSerAspC ysGlyLysValPheSerArgLeuProCysLeuThrArgHisGlnArgVal HisThrGlyGluArgProTyrLysCysAsnGlu	ZNF880	ENSG00000221923.9	transcript	ENST00000422689.3	protein_coding	4/4	1281/2258	1238/1734	413/577		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAGATAA others(459): Show ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAAT ATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATAT AAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTAT ATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAA ATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTAT AAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTT ATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTT ATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATAT CAATATATAAATATTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0169 a0001c0002t0003g0169	1	306	0.0033	466	c.130 others(485): Show c.1308+1271_1308+1272insAAAATATTTATATATTGATATATTTA TCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATT TATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATATAAA AATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATA AAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATCTATA AATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATA TTTATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGA TATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTA TAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTTATA TATTTATCTATAAATATAAAAATATTTATATATTTATCTA		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABR_chr17_998519_1184981	1065226	G G	GTTGTTAT others(459): Show GTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGT GAACTGAGGGCTATGCATGTTGCTCTAGACACTGTTGTTACGTGAACTGA GGGCTATGCATGTTCCTCTAGACGCTGCTGTTATGTGAACTGAGGGCTAT GCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTT CCTCCAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAG ACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGT TGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGT GAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTGA GGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTAT GCATGTTCCTCTAGACA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19063.hp1 NA18955.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0293 a0001c0001t0006g0094 a0001c0001t0004g0293 a0001c0001t0006g0094	2	337	0.0059	466	c.118 others(485): Show c.1182+1850_1182+1851insTGTCTAGAGGAACATGCATAGCCCTC AGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCAC ATAACAACAGTGTCTGGAGGAACATGCATAGCCCTCAGTTCACGTAACAG CAGTGCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCT AGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAA CATGCATAGCCCTCAGTTCACATAACAACAGTGTCTGGAGGAACATGCAT AGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTC AGTTCACATAACAGCAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCAC GTAACAACAGTGTCTAGAGCAACATGCATAGCCCTCAGTTCACATAACAG TGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAA		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22						chr17	TogoVar
ABR_chr17_998519_1184981	1118420	G G	GTTCCTCC others(459): Show GTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCG TTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCC TCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCC CGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATC CCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCC AGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAG TTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGA GCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTCCCTCCCAGCGT TAACCCTGAGCCTGAGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	337	0.0030	466	c.246 others(483): Show c.246+6762_246+6763insACTCAGGCTCAGGGTTAACGCTGGGAGG GACTCAGGCTCAGGCAATAACGCTGGGAGGGACTCAGGCTCAGGGATAAC GCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAG GGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTC AGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTGG GAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGAT AACGCTGGGAGGAACTCGGGCTCAGGGATAATGCTGGGAGGAACTCGGGC TCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGA ACTCGGGTTCAGGGATAATGCTGGGAGGAACTCGGGCTCAGGGATAACGC TGGGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGAA		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22						chr17	TogoVar
ABR_chr17_998519_1184981	1118420	G G	GTTCCTCC others(459): Show GTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCT GAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCGGAGTTCCTCCCAGCA TTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCC TCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCC CGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATC CCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCC AGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAG TTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGA GCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTCCCTCCCAGCGT TAACCCTGAGCCTGAGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0014 a0001c0001t0035g0014	1	337	0.0030	466	c.246 others(483): Show c.246+6762_246+6763insACTCAGGCTCAGGGTTAACGCTGGGAGG GACTCAGGCTCAGGCAATAACGCTGGGAGGGACTCAGGCTCAGGGATAAC GCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAG GGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTC AGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTGG GAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGAT AACGCTGGGAGGAACTCGGGCTCAGGGATAATGCTGGGAGGAACTCGGGC TCAGGGATAACGCTGGGAGGAACTCGGGTTCAGGGATAATGCTGGGAGGA ACTCCGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGC TGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAA		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22						chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100058248	T T	TATCCCGG others(459): Show TATCCCGGCTCTAACACCCCTATCCCGGCTCTAACACCCCCTATCCCGGC TCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTTAACAC CCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCGTCCTATCCCG GCTCTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACA CCCCTATCCCGGCTCTAACCCTCCTATCCCAGCTCTAACACCCCATATCC CGGCTCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTTA ACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCCTCCTAT CCCGGCTCTAACCGTCCTATCCCGGCTCTAACACCCTTATCCCGGCTCTA ACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACCCTCCTA TCCCGGCTCTTAACACC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0094 a0002c0001t0007g0094	1	228	0.0044	466	c.213 others(485): Show c.2138-4195_2138-4194insGGTGTTAAGAGCCGGGATAGGAGGGT TAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGG GATAAGGGTGTTAGAGCCGGGATAGGACGGTTAGAGCCGGGATAGGAGGG TTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCG GGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATATGGG GTGTTAGAGCTGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAAGAG CCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGG ACGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGA GCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATA GGGGGTGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGAT		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21						chr15	TogoVar

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