Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
CRTC3_chr15_90524923_90650345	90647500	C C	CCACACCC others(90): Show CCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACACCTTGTCCTC CTCCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACACCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0086 a0004c0005t0003g0086	1	232	0.0043	97	c.53 others(108): Show c.5360_*5361insCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCT CCACACCTTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCTCCTCCTC CTCCACACCCCTT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2156		chr15	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667097	A A	AAGAAAGA others(90): Show AAGAAAGAAAGAAAAGGAAAGGAAAAGAAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	140	0.0071	97	c.-39 others(118): Show c.-391-65233_-391-65232insCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTT TTCCTTTCCTTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3210458	A A	ATATATAT others(90): Show ATATATATAGGAATATACATATATATGACCTATATATATAGGAATATACA TATATATGACCTATATATATATAGGAATATACATATATATGACCTATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00735.hp2 others(72): Show HG00099.hp2 HG00423.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01255.hp1 HG01261.hp1 HG01884.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18995.hp1 NA18995.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0019 a0020 a0021 a0023 a0024 a0028 a0029 a0031 a0032 a0034 a0036 a0037 a0038 a0039	a0001c0001 a0001c0002 a0001c0004 others(69): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0017 a0001c0020 a0001c0021 a0001c0025 a0001c0026 a0001c0033 a0001c0039 a0001c0040 a0001c0043 a0001c0045 a0001c0046 a0001c0047 a0001c0050 a0001c0059 a0001c0068 a0001c0071 a0001c0073 a0001c0079 a0001c0080 a0001c0085 a0001c0090 a0001c0105 a0001c0108 a0001c0109 a0001c0111 a0001c0114 a0002c0012 a0002c0030 a0002c0031 a0002c0032 a0002c0035 a0002c0036 a0002c0037 a0002c0048 a0002c0051 a0002c0060 a0002c0070 a0002c0072 a0002c0077 a0002c0078 a0002c0084 a0002c0092 a0003c0056 a0004c0014 a0004c0034 a0005c0065 a0005c0107 a0006c0067 a0007c0083 a0008c0029 a0008c0088 a0010c0096 a0019c0082 a0020c0112 a0021c0038 a0023c0069 a0024c0052 a0028c0044 a0029c0027 a0031c0113 a0032c0024 a0034c0055 a0036c0095 a0037c0009 a0038c0104 a0039c0010	a0001c0001t0002 a0001c0002t0026 a0001c0004t0020 others(72): Show a0001c0001t0002 a0001c0002t0026 a0001c0004t0020 a0001c0005t0002 a0001c0005t0006 a0001c0006t0002 a0001c0006t0060 a0001c0007t0001 a0001c0007t0032 a0001c0017t0005 a0001c0020t0018 a0001c0021t0005 a0001c0025t0003 a0001c0026t0007 a0001c0033t0003 a0001c0039t0064 a0001c0040t0019 a0001c0043t0031 a0001c0045t0014 a0001c0046t0073 a0001c0047t0012 a0001c0050t0052 a0001c0059t0001 a0001c0068t0015 a0001c0071t0067 a0001c0073t0006 a0001c0079t0070 a0001c0080t0041 a0001c0085t0020 a0001c0090t0001 a0001c0105t0001 a0001c0108t0054 a0001c0109t0037 a0001c0111t0045 a0001c0114t0003 a0002c0012t0016 a0002c0030t0018 a0002c0031t0015 a0002c0032t0053 a0002c0035t0047 a0002c0036t0030 a0002c0037t0009 a0002c0048t0011 a0002c0051t0007 a0002c0060t0007 a0002c0070t0046 a0002c0072t0003 a0002c0077t0001 a0002c0078t0044 a0002c0084t0017 a0002c0092t0001 a0003c0056t0062 a0004c0014t0055 a0004c0034t0029 a0005c0065t0023 a0005c0107t0066 a0006c0067t0059 a0007c0083t0004 a0008c0029t0013 a0008c0088t0076 a0010c0096t0065 a0019c0082t0051 a0020c0112t0081 a0021c0038t0075 a0023c0069t0043 a0024c0052t0049 a0028c0044t0071 a0029c0027t0003 a0031c0113t0013 a0032c0024t0077 a0034c0055t0034 a0036c0095t0002 a0037c0009t0001 a0038c0104t0069 a0039c0010t0068	a0001c0001t0002g0125 a0001c0002t0026g0005 a0001c0004t0020g0086 others(72): Show a0001c0001t0002g0125 a0001c0002t0026g0005 a0001c0004t0020g0086 a0001c0005t0002g0111 a0001c0005t0006g0070 a0001c0006t0002g0109 a0001c0006t0060g0103 a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0020t0018g0065 a0001c0021t0005g0012 a0001c0025t0003g0077 a0001c0026t0007g0093 a0001c0033t0003g0059 a0001c0039t0064g0080 a0001c0040t0019g0123 a0001c0043t0031g0044 a0001c0045t0014g0010 a0001c0046t0073g0091 a0001c0047t0012g0024 a0001c0050t0052g0120 a0001c0059t0001g0036 a0001c0068t0015g0049 a0001c0071t0067g0115 a0001c0073t0006g0108 a0001c0079t0070g0113 a0001c0080t0041g0025 a0001c0085t0020g0060 a0001c0090t0001g0027 a0001c0105t0001g0029 a0001c0108t0054g0074 a0001c0109t0037g0013 a0001c0111t0045g0063 a0001c0114t0003g0119 a0002c0012t0016g0088 a0002c0030t0018g0122 a0002c0031t0015g0001 a0002c0032t0053g0061 a0002c0035t0047g0076 a0002c0036t0030g0009 a0002c0037t0009g0046 a0002c0048t0011g0015 a0002c0051t0007g0081 a0002c0060t0007g0094 a0002c0070t0046g0092 a0002c0072t0003g0066 a0002c0077t0001g0016 a0002c0078t0044g0064 a0002c0084t0017g0087 a0002c0092t0001g0011 a0003c0056t0062g0072 a0004c0014t0055g0056 a0004c0034t0029g0038 a0005c0065t0023g0050 a0005c0107t0066g0073 a0006c0067t0059g0079 a0007c0083t0004g0006 a0008c0029t0013g0054 a0008c0088t0076g0057 a0010c0096t0065g0116 a0019c0082t0051g0097 a0020c0112t0081g0090 a0021c0038t0075g0067 a0023c0069t0043g0100 a0024c0052t0049g0098 a0028c0044t0071g0085 a0029c0027t0003g0099 a0031c0113t0013g0043 a0032c0024t0077g0104 a0034c0055t0034g0047 a0036c0095t0002g0124 a0037c0009t0001g0002 a0038c0104t0069g0058 a0039c0010t0068g0084	75	126	0.5952	97	c.486 others(116): Show c.4867+4038_4867+4039insGATAGGTCATATATATGTATATTCCT ATATATATATAGGTCATATATATGTATATTCCTATATATATAGGTCATAT ATATGTATATTCCTATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	30/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3210470	A A	ATATACAT others(90): Show ATATACATATATATGACCTATATATATAGGAATATACATATATATGACCT ATATATATATAGGAATATACATATATATGACCTATCTATATATAGGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0072 a0012c0011t0072	a0012c0011t0072g0101 a0012c0011t0072g0101	1	126	0.0079	97	c.486 others(116): Show c.4867+4026_4867+4027insCTCCTATATATAGATAGGTCATATAT ATGTATATTCCTATATATATATAGGTCATATATATGTATATTCCTATATA TATAGGTCATATATATGTATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	30/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3448321	A A	AAGGGAGG others(90): Show AAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0086 a0001c0004t0020g0086	1	85	0.0118	97	c.156 others(118): Show c.1561+20390_1561+20391insCCCCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCTCCCTCCCTTCCTCCTCCCTCCCTCCCTTCTTCCTTCCTTC CTTCCTTCCCTCCCTCCCTCCCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4595371	T T	TCGATGCA others(90): Show TCGATGCATTCATTTTCTTTTTTTTTTTTTTTCTTTTTTTTTTTTATTAT ACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02129.hp2 NA18995.hp1 HG00423.hp2 HG02129.hp2 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0109 a0002c0089 a0001c0007 a0001c0109 a0002c0089	a0001c0007t0032 a0001c0109t0037 a0002c0089t0001 a0001c0007t0032 a0001c0109t0037 a0002c0089t0001	a0001c0007t0032g0033 a0001c0109t0037g0013 a0002c0089t0001g0037 a0001c0007t0032g0033 a0001c0109t0037g0013 a0002c0089t0001g0037	3	83	0.0361	97	c.302 others(116): Show c.302+41970_302+41971insTATGTAACTAACCTGCACAATGTGCA CATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAGAAAAAAAAAA AAAAAGAAAATGAATGCATCG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSNK1D_chr17_82237667_82278700	82254779	A A	AGCCTCGA others(90): Show AGCCTCGAGAAGCCAGTCAGCTGAGCCGCCGGGGCCTCGAGAAGCCAGTC AGCTGAGCCGCCGGGGCCTCGAGAAGCCAGTGTGCTGAGCCGCCGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	315	0.0032	97	c.336 others(112): Show c.336+553_336+649dupCCCCGGCGGCTCAGCACACTGGCTTCTCGA GGCCCCGGCGGCTCAGCTGACTGGCTTCTCGAGGCCCCGGCGGCTCAGCT GACTGGCTTCTCGAGGC	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	3/8			chr17	TogoVar
CYP4F3_chr19_15635897_15667825	15650824	T T	TTCTTCTT others(90): Show TTCTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCATCTTTCTTT CTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19087.hp1 HG02451.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0017 a0001c0002t0001 a0001c0002t0017	a0001c0002t0001g0311 a0001c0002t0017g0324 a0001c0002t0001g0311 a0001c0002t0017g0324	2	397	0.0050	97	c.918 others(112): Show c.918+645_918+646insCTTTCTTTCTTTCTTTCTTTCTTTTCCTTC CTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTTCTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DBNL_chr7_44039702_44074456	44042990	A A	ATATATAC others(90): Show ATATATACATGTGTATATATACACATATGCATATATATACATATATGTAT ATATATACATGTGCATATATACATATACATATGCATATATAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0107 a0001c0002t0048g0107	1	321	0.0031	97	c.-17 others(108): Show c.-1748_-1747insTATATACATGTGTATATATACACATATGCATATA TATACATATATGTATATATATACATGTGCATATATACATATACATATGCA TATATAATATATG	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1711		chr7	TogoVar
DCLK1_chr13_35763652_36136382	35826542	A A	AGGAAGGA others(90): Show AGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0144 a0001c0004t0002g0144	1	117	0.0085	97	c.140 others(116): Show c.1407+1092_1407+1093insCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CTTCCTTCCTTCCTTCCTTCC	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150175117	T T	TATATATT others(90): Show TATATATTTATATATATTTATATATTTATATATATATTTATATATATTTA TATATTTATATATTTGTATATATTTGTATATATTTATATATTTATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0109 a0002c0006t0006g0109	1	102	0.0098	97	c.757 others(116): Show c.757-18021_757-18020insATATATTTATATATATTTATATATTT ATATATATATTTATATATATTTATATATTTATATATTTGTATATATTTGT ATATATTTATATATTTATATA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	2/15			chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251241	A A	ACACACCA others(90): Show ACACACCACAAATCCTCCACACCCCCCAACACCCCCACACACCCCCCACA CCACACATCCCTCACACCCCCCAACACCCCCACACCTCCCACACCTCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0004 a0003c0004t0003g0004	1	70	0.0143	97	c.207 others(116): Show c.2073+1561_2073+1562insCCACAAATCCTCCACACCCCCCAACA CCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAACACCCCC ACACCTCCCACACCTCCCACA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX1_chr2_15586868_15636101	15611913	A A	AGCTGACC others(90): Show AGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGCTGGCCGGATGGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20905.hp1 HG02055.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0119 a0001c0001t0006g0234 a0001c0001t0001g0119 a0001c0001t0006g0234	2	82	0.0244	97	c.957 others(114): Show c.957-1295_957-1294insCCCTCCCAGATGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGCTGGCCGGATGG GGGGCTGACCCCCCCACCT	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611913	A A	AGCTGACC others(90): Show AGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGCTGGCCGGATGGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(130): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19075.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0015 a0002c0005 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 a0001c0015t0001 a0002c0005t0001 a0005c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 others(78): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0003g0183 a0001c0002t0001g0001 a0001c0002t0001g0022 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0235 a0001c0010t0001g0222 a0001c0015t0001g0130 a0002c0005t0001g0050 a0005c0011t0001g0232	133	213	0.6244	97	c.957 others(114): Show c.957-1295_957-1294insCCCTCCCGGATGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGCTGGCCGGATGG GGGGCTGACCCCCCCACCT	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DENND6B_chr22_50304030_50332012	50316922	G G	GGGGGGGC others(90): Show GGGGGGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCGGGGGGGCG GCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGCGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0154 a0001c0001t0013g0154	1	315	0.0032	97	c.453 others(112): Show c.453+370_453+371insGCCCCCCCCCCGCCCTGTCCTCGTGGCCCC CCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCTGTCCTCGCCGCCCCCCCG CCCTGTCCTCGCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(90): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGGG GGGGCCACGAGGACAGGGCGGGGGGGGGGGGCGGCGAGGACAGGGTGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG01928.hp2 others(5): Show HG00544.hp1 HG00642.hp2 HG01928.hp2 HG02056.hp2 HG02135.hp1 HG03239.hp2 NA18951.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0093 others(5): Show a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0093 a0001c0001t0003g0062 a0001c0001t0003g0125 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0009g0112	8	44	0.1818	97	c.453 others(112): Show c.453+356_453+357insCCACCCTGTCCTCGCCGCCCCCCCCCCCCG CCCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCT GTCCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(90): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGGG GGGGCCACGAGGACAGGGCGGGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG04204.hp2 NA18906.hp2 HG01255.hp1 HG04204.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0012t0003 a0001c0001t0002 a0001c0001t0003 a0001c0012t0003	a0001c0001t0002g0041 a0001c0001t0003g0126 a0001c0012t0003g0192 a0001c0001t0002g0041 a0001c0001t0003g0126 a0001c0012t0003g0192	3	39	0.0769	97	c.453 others(112): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCCCG CCCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCT GTCCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(90): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGGG GGGGGCCACGAGGACAGGGCGGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	37	0.0270	97	c.453 others(112): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCCGC CCTGTCCTCGTGGCCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCT GTCCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(90): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCAGGG GGGGGCCACGAGGACAGGGCGGGGGGGGGGGCGGCGAGGACAGGGTGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0058 a0001c0001t0042g0058	1	37	0.0270	97	c.453 others(112): Show c.453+356_453+357insCCACCCTGTCCTCGCCGCCCCCCCCCCCGC CCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCCGCCCT GTCCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(90): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCAGGG GGGGGCCACGAGGACAGGGCGGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02074.hp2 HG02486.hp2 others(8): Show HG01884.hp2 HG02074.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02683.hp2 HG02809.hp2 HG02970.hp2 HG02976.hp2 NA18962.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0001c0011t0012	a0001c0001t0002g0088 a0001c0001t0002g0141 a0001c0001t0003g0067 others(8): Show a0001c0001t0002g0088 a0001c0001t0002g0141 a0001c0001t0003g0067 a0001c0001t0003g0075 a0001c0001t0008g0153 a0001c0001t0009g0035 a0001c0001t0011g0076 a0001c0001t0020g0069 a0001c0001t0021g0051 a0001c0001t0033g0048 a0001c0011t0012g0149	11	47	0.2340	97	c.453 others(112): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCCGC CCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCCGCCCT GTCCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(90): Show CGGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGG GGGGGCCACGAGGACAGGGCGGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00639.hp1 others(1): Show HG00438.hp1 HG00597.hp1 HG00639.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0041 a0001c0001t0002 a0001c0001t0003 a0001c0001t0041	a0001c0001t0002g0042 a0001c0001t0002g0107 a0001c0001t0003g0055 others(1): Show a0001c0001t0002g0042 a0001c0001t0002g0107 a0001c0001t0003g0055 a0001c0001t0041g0095	4	40	0.1000	97	c.453 others(112): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCCGC CCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCTG TCCTCGCCGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(90): Show CGGGGGGGGCGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCAGG GGGGGGCCACGAGGACAGGGCGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0151 a0001c0001t0023g0151	1	37	0.0270	97	c.453 others(112): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCGCC CTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCCGCCCTG TCCTCGCCGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(90): Show CGGGGGGGGGGGGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCGG GGGGGGCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGTGGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0228 a0002c0008t0001g0228	1	37	0.0270	97	c.453 others(112): Show c.453+356_453+357insCCCACCCTGTCCTCGTGGCCCCCCCCTGCC CTGTCCTCGCCGCCCCCCCCGCCCTGTCCTCGCCGCCCCCCCGCCCTGTC CTCGCCCCCCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316957	G G	GCGGGGGG others(90): Show GCGGGGGGGCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGCGG GGGGGGGGGGCGGCGAGGACAGGGTGGGGGGGGCGGCGAGGACAGGGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02135.hp2 HG02818.hp2 HG01168.hp1 HG02135.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0102 a0001c0001t0003g0128 a0001c0001t0003g0068 a0001c0001t0003g0102 a0001c0001t0003g0128	3	307	0.0098	97	c.453 others(112): Show c.453+335_453+336insACCCTGTCCTCGCCGCCCCCCCCACCCTGT CCTCGCCGCCCCCCCCCCCCGCCCTGTCCTCGTGGCCCCCCCCTGCCCTG TCCTCGCCGCCCCCCCG	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(90): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCG CCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	26	0.0385	97	c.27 others(108): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGCGCG GGGAGGCGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG CGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DGKD_chr2_233349494_233477098	233397118	G G	GGCCAGAG others(90): Show GGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGC CAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0286 a0001c0001t0011g0286	1	257	0.0039	97	c.348 others(114): Show c.348+6689_348+6690insCGAGAGGACTCCAGAGGGGACCAGGGTG GCTGGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTG GCTGCGGGGGGGGCCAGAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397205	G G	GGGGGGGG others(90): Show GGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCT GCGGGGGGGGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0333 a0001c0001t0009g0333	1	322	0.0031	97	c.348 others(114): Show c.348+6732_348+6733insTGCCAGAGTGAGAGGACACCAGAGGGGA CCAGGGTGGCTGCGGGGGGGGGCCAGAGTGAGAGGACTCCAGAGGGGACC AGGGTGGCTGGGGGGGGGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKK_chrX_50360409_50475825	50463498	C C	CCCTCCCT others(90): Show CCCTCCCTCCCTTCTCCCCTCCTCCCTCTCTTCCTCTCTCTGTTTCTCTC CCTCCTTCTCCCTTCTCTTCCTTCTTTCTCCCTCTCTCCTTCTCCCCT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	246	0.0041	97	c.645 others(114): Show c.645+6439_645+6535dupAGGGGAGAAGGAGAGAGGGAGAAAGAAG GAAGAGAAGGGAGAAGGAGGGAGAGAAACAGAGAGAGGAAGAGAGGGAGG AGGGGAGAAGGGAGGGAGG	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DHX34_chr19_47344315_47387704	47382981	C C	CAAAAAAA others(90): Show CAAAAAAAAAAAAAAAAAAAATCAGGCTGAGGCAGGTGGTTTGCCTGAGC TCAGGAGTTTGAGACCAGCCTGGGCGACAAGAGTGAAACTCCATCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA19002.hp2 NA19079.hp2 NA18964.hp1 NA19002.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0010 a0001c0002t0003 a0001c0002t0010	a0001c0002t0003g0250 a0001c0002t0010g0037 a0001c0002t0010g0257 a0001c0002t0003g0250 a0001c0002t0010g0037 a0001c0002t0010g0257	3	179	0.0168	97	c.86 others(106): Show c.868_*869insAAAAAAAAAAAAAAAAAAAATCAGGCTGAGGCAGGT GGTTTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCGACAAGAGTGAA ACTCCATCTCA	DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding		278		chr19	TogoVar
DIP2C_chr10_269201_694668	337268	A A	ATGTGTGT others(90): Show ATGTGTGTGTGTGTTGTGGAGGCCTAGGCTGATGTGTGTGTGTGTTCTGT GGAGGCCCAGGCAGCTGTGTGTGTGTGTTCTGTGGAGGCCCAGGCAGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG00738.hp1 others(29): Show HG00597.hp2 HG00673.hp2 HG00738.hp1 HG01099.hp1 HG01099.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02300.hp2 HG02602.hp2 HG02647.hp1 HG03453.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 NA18962.hp1 NA19066.hp1 NA19074.hp2 NA19081.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0001c0012 a0001c0013 a0001c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0004t0001 a0001c0004t0003 a0001c0005t0002 a0001c0008t0001 a0001c0012t0002 a0001c0013t0002 a0001c0014t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0022 others(29): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0003g0008 a0001c0001t0003g0040 a0001c0001t0003g0075 a0001c0001t0004g0019 a0001c0001t0005g0023 a0001c0001t0010g0020 a0001c0004t0001g0061 a0001c0004t0001g0086 a0001c0004t0003g0048 a0001c0005t0002g0015 a0001c0005t0002g0016 a0001c0005t0002g0087 a0001c0008t0001g0017 a0001c0008t0001g0018 a0001c0012t0002g0047 a0001c0013t0002g0045 a0001c0014t0001g0032	32	76	0.4211	97	c.358 others(116): Show c.3584+3930_3584+3931insGCTGCCTGGGCCTCCACAGAACACAC ACACACAGCTGCCTGGGCCTCCACAGAACACACACACACATCAGCCTAGG CCTCCACAACACACACACACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	29/36			chr10	TogoVar
DIP2C_chr10_269201_694668	663905	C C	CCTCCCCA others(90): Show CCTCCCCACAAGGGCTCCGGGAGGCCACACCAGAGGGTGGGAGGCGGGGG TGACGCTCAGCACTGCAGGCACCGAGGACGGCCTCCTCCCAACAAATG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	87	0.0115	97	c.85+ others(114): Show c.85+25588_85+25589insCATTTGTTGGGAGGAGGCCGTCCTCGGT GCCTGCAGTGCTGAGCGTCACCCCCGCCTCCCACCCTCTGGTGTGGCCTC CCGGAGCCCTTGTGGGGAG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	663968	T T	TGCAGGCA others(90): Show TGCAGGCACCGAGGACAGCCTCCTCCCAACAAATGCTCCCCACAAGGGCT CCGGGAGGCCACACCAGAGGGTGGGAGGCAGGGGTGACGCTCAGCACC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18906.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0011 a0001c0002t0003g0012	2	88	0.0227	97	c.85+ others(114): Show c.85+25525_85+25526insGGTGCTGAGCGTCACCCCTGCCTCCCAC CCTCTGGTGTGGCCTCCCGGAGCCCTTGTGGGGAGCATTTGTTGGGAGGA GGCTGTCCTCGGTGCCTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1164217	A A	ATTTTGGT others(90): Show ATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCGTCGT TTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCTGTCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp1 HG02895.hp1 others(1): Show HG02258.hp2 HG02818.hp1 HG02895.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0027 a0001c0003t0001 a0001c0003t0006 others(1): Show a0001c0002t0027 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013	a0001c0002t0027g0023 a0001c0003t0001g0027 a0001c0003t0006g0033 others(1): Show a0001c0002t0027g0023 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0013g0007	4	21	0.1905	97	c.74- others(114): Show c.74-94597_74-94596insAGGGCCCGTCGTTTTGGTTTGTGGGGAC AGATTTTTCTGTGAGCCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGACA GATTTTTCTGTGAGCCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1508511	T T	TGCAAACC others(90): Show TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCCGCAAACCCCCGCCACCCCCCACCACCCCTCACCACCCCCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	11	0.0909	97	c.172 others(114): Show c.172+7096_172+7097insCCCTGCAAACGCCCACCACCCCCCACCC CTCACCACCCCCCGCAAACCCCCGCCACCCCCCACCACCCCTCACCACCC CCCGCAAACCCCCGCCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF3_chr19_55153665_55171613	55153732	A A	AAAAAAAA others(90): Show AAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAA AGATTACAGGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	393	0.0025	97	c.53 others(108): Show c.5329_*5330insGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCT TATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTTCCTTT TTTTTTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4932		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153732	A A	AAAAAAAA others(90): Show AAAAAAAAAAAAAAAAAGGAAATTAAAAAAAATTTTTTTTTAAACCTCAA AGATTACAGGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 NA18960.hp2 NA18981.hp2 HG01978.hp1 NA18960.hp2 NA18981.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0002 a0001c0004 a0003c0002	a0001c0004t0001 a0003c0002t0001 a0001c0004t0001 a0003c0002t0001	a0001c0004t0001g0003 a0001c0004t0001g0004 a0003c0002t0001g0002 a0001c0004t0001g0003 a0001c0004t0001g0004 a0003c0002t0001g0002	3	395	0.0076	97	c.53 others(108): Show c.5329_*5330insGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCT TATGCCTGTAATCTTTGAGGTTTAAAAAAAAATTTTTTTTAATTTCCTTT TTTTTTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4932		chr19	TogoVar
DNAH17_chr17_78418697_78582396	78424410	T T	TTTTCAGA others(90): Show TTTTCAGAGCCTCATCTGTCAGCCTTAATGTCAGTGGCAGGAAGTCATAA CTCCAGCTAAAAATTACAGAGTAAAGTTCCCTGATTCTTAATGTGTAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0060 a0060	a0060c0055 a0060c0055	a0060c0055t0001 a0060c0055t0001	a0060c0055t0001g0007 a0060c0055t0001g0007	1	250	0.0040	97	c.131 others(116): Show c.13142-354_13142-258dupTTACACATTAAGAATCAGGGAACTTT ACTCTGTAATTTTTAGCTGGAGTTATGACTTCCTGCCACTGACATTAAGG CTGACAGATGAGGCTCTGAAA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	80/80			chr17	TogoVar
DNAI7_chr12_25103289_25200160	25174573	G G	GATATATA others(90): Show GATATATATCATATATATGGGATATATATGATATATATATCATATATATG GGATATATATATGATATATATATCATATATATGGGATATATATATGAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG03579.hp1 HG01891.hp1 HG02451.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0171	3	315	0.0095	97	c.22- others(114): Show c.22-13377_22-13376insATCATATATATATCCCATATATATGATA TATATATCATATATATATCCCATATATATGATATATATATCATATATATC CCATATATATGATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(90): Show GAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	248	0.0040	97	c.29 others(108): Show c.2939_*2940insAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATAT ATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(90): Show GAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	248	0.0040	97	c.29 others(108): Show c.2939_*2940insAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATAT ATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(90): Show GAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	248	0.0040	97	c.29 others(108): Show c.2939_*2940insAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATAT ATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(90): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	248	0.0040	97	c.29 others(108): Show c.2939_*2940insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATAT ATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(90): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	248	0.0040	97	c.29 others(108): Show c.2939_*2940insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATAT ATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DOCK8_chr9_209865_470255	400157	C C	CCACCACC others(90): Show CCACCACCACCTCCACCATCACCACCTCCCACCACCTCCACCACCTCCAC CATCACCACCACCTCCACCATCACCATCACCACCACCACCGCCACCAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0114 a0002c0114	a0002c0114t0001 a0002c0114t0001	a0002c0114t0001g0015 a0002c0114t0001g0015	1	190	0.0053	97	c.323 others(114): Show c.3234+926_3234+927insCACCACCTCCACCACCTCCACCATCACC ACCACCTCCACCATCACCATCACCACCACCACCGCCACCATCACCACCAC CTCCACCATCACCACCTCC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPYD_chr1_97072743_97926034	97323455	T T	TGTGTATA others(90): Show TGTGTATATGTACACGTATGTATACATATGTGTATATGTACACGTATGTA TACACATGTGTATATGTACACGTATGTATACATATGTGTATATGTACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0021 a0008c0007t0001g0021	1	34	0.0294	97	c.205 others(118): Show c.2059-17159_2059-17158insTGTACATATACACATATGTATACA TACGTGTACATATACACATGTGTATACATACGTGTACATATACACATATG TATACATACGTGTACATATACAC	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	16/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97323455	T T	TGTGTATA others(90): Show TGTGTATATGTACACGTATGTATACATATGTGTATATGTACACGTATGTA TACATATGTGTATATGTACACGTATGTATACATATGTGTATATGTACA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18906.hp2 HG02976.hp1 NA18906.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0002 a0002c0002t0001 a0004c0004t0002	a0002c0002t0001g0008 a0004c0004t0002g0027 a0002c0002t0001g0008 a0004c0004t0002g0027	2	35	0.0571	97	c.205 others(118): Show c.2059-17159_2059-17158insTGTACATATACACATATGTATACA TACGTGTACATATACACATATGTATACATACGTGTACATATACACATATG TATACATACGTGTACATATACAC	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	16/22			chr1	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(90): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	122	0.0082	97	c.-49 others(108): Show c.-4989_-4988insAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(90): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	122	0.0082	97	c.-49 others(108): Show c.-4989_-4988insAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(90): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	122	0.0082	97	c.-49 others(108): Show c.-4989_-4988insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172139	C C	CGGGGGCG others(90): Show CGGGGGCGCGCGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCGCGGGGGCG GGGGCGCGCGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0358 a0001c0001t0002g0358	1	407	0.0025	97	c.-46 others(108): Show c.-4697_-4696insCGCCCCCGCGCGCCCCCGCCCCCGCGCGCCCCCG CCCCCGCGCGCCCCCGCCCCCGCGCGCCCCCGCCCCCGCGCGCCCCCGCC CCCGCGCGCCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4655		chr19	TogoVar

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